diff --git a/CHANGELOG.md b/CHANGELOG.md index 8e87562..78d7e78 100644 --- a/CHANGELOG.md +++ b/CHANGELOG.md @@ -7,6 +7,9 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0 ## Unreleased +## [v0.4.0](https://github.com/ivanwilliammd/iderare-pheno/releases/tag/v0.4.0) - 2024-04-07 +- Added export iderare.yml function + ## [v0.3.5](https://github.com/ivanwilliammd/iderare-pheno/releases/tag/v0.3.5) - 2024-04-07 - Updated pyproject.toml to recursively get the data inside the package diff --git a/Playbook.ipynb b/Playbook.ipynb index 0429620..c18b9bb 100644 --- a/Playbook.ipynb +++ b/Playbook.ipynb @@ -18,34 +18,16 @@ }, { "cell_type": "code", - "execution_count": 4, + "execution_count": 1, "metadata": {}, - "outputs": [ - { - "ename": "FileNotFoundError", - "evalue": "[Errno 2] No such file or directory: 'phenotype/subset/icd102omim_subset.tsv'", - "output_type": "error", - "traceback": [ - "\u001b[1;31m---------------------------------------------------------------------------\u001b[0m", - "\u001b[1;31mFileNotFoundError\u001b[0m Traceback (most recent call last)", - "Cell \u001b[1;32mIn[4], line 1\u001b[0m\n\u001b[1;32m----> 1\u001b[0m \u001b[38;5;28;01mfrom\u001b[39;00m \u001b[38;5;21;01miderare_pheno\u001b[39;00m\u001b[38;5;21;01m.\u001b[39;00m\u001b[38;5;21;01mconverter\u001b[39;00m \u001b[38;5;28;01mimport\u001b[39;00m term2omim, term2orpha, term2hpo, batchconvert\n", - "File \u001b[1;32md:\\Bioinformatics\\iderare-pheno\\iderare_pheno\\converter.py:21\u001b[0m\n\u001b[0;32m 18\u001b[0m clinical_data \u001b[38;5;241m=\u001b[39m \u001b[38;5;124m\"\u001b[39m\u001b[38;5;124mclinical_data.txt\u001b[39m\u001b[38;5;124m\"\u001b[39m\n\u001b[0;32m 20\u001b[0m \u001b[38;5;66;03m# Read the clinical data and parse the data\u001b[39;00m\n\u001b[1;32m---> 21\u001b[0m icd10omim_df \u001b[38;5;241m=\u001b[39m \u001b[43mpd\u001b[49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43mread_csv\u001b[49m\u001b[43m(\u001b[49m\u001b[43mphenotype_folder\u001b[49m\u001b[43m \u001b[49m\u001b[38;5;241;43m+\u001b[39;49m\u001b[43m \u001b[49m\u001b[38;5;124;43m\"\u001b[39;49m\u001b[38;5;124;43m/\u001b[39;49m\u001b[38;5;124;43m\"\u001b[39;49m\u001b[43m \u001b[49m\u001b[38;5;241;43m+\u001b[39;49m\u001b[43m \u001b[49m\u001b[43micd10omim\u001b[49m\u001b[43m,\u001b[49m\u001b[43m \u001b[49m\u001b[43msep\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[38;5;124;43m\"\u001b[39;49m\u001b[38;5;130;43;01m\\t\u001b[39;49;00m\u001b[38;5;124;43m\"\u001b[39;49m\u001b[43m)\u001b[49m\n\u001b[0;32m 22\u001b[0m loinc2hpo_df \u001b[38;5;241m=\u001b[39m pd\u001b[38;5;241m.\u001b[39mread_csv(phenotype_folder \u001b[38;5;241m+\u001b[39m \u001b[38;5;124m\"\u001b[39m\u001b[38;5;124m/\u001b[39m\u001b[38;5;124m\"\u001b[39m \u001b[38;5;241m+\u001b[39m loinc2hpo, sep\u001b[38;5;241m=\u001b[39m\u001b[38;5;124m\"\u001b[39m\u001b[38;5;130;01m\\t\u001b[39;00m\u001b[38;5;124m\"\u001b[39m)\n\u001b[0;32m 23\u001b[0m orpha2omim_df \u001b[38;5;241m=\u001b[39m pd\u001b[38;5;241m.\u001b[39mread_csv(phenotype_folder \u001b[38;5;241m+\u001b[39m \u001b[38;5;124m\"\u001b[39m\u001b[38;5;124m/\u001b[39m\u001b[38;5;124m\"\u001b[39m \u001b[38;5;241m+\u001b[39m orpha2omim, sep\u001b[38;5;241m=\u001b[39m\u001b[38;5;124m\"\u001b[39m\u001b[38;5;130;01m\\t\u001b[39;00m\u001b[38;5;124m\"\u001b[39m)\n", - "File \u001b[1;32mc:\\Users\\Ivan-RTX2080\\.conda\\envs\\iderare-pheno\\lib\\site-packages\\pandas\\io\\parsers\\readers.py:912\u001b[0m, in \u001b[0;36mread_csv\u001b[1;34m(filepath_or_buffer, sep, delimiter, header, names, index_col, usecols, dtype, engine, converters, true_values, false_values, skipinitialspace, skiprows, skipfooter, nrows, na_values, keep_default_na, na_filter, verbose, skip_blank_lines, parse_dates, infer_datetime_format, keep_date_col, date_parser, date_format, dayfirst, cache_dates, iterator, chunksize, compression, thousands, decimal, lineterminator, quotechar, quoting, doublequote, escapechar, comment, encoding, encoding_errors, dialect, on_bad_lines, delim_whitespace, low_memory, memory_map, float_precision, storage_options, dtype_backend)\u001b[0m\n\u001b[0;32m 899\u001b[0m kwds_defaults \u001b[38;5;241m=\u001b[39m _refine_defaults_read(\n\u001b[0;32m 900\u001b[0m dialect,\n\u001b[0;32m 901\u001b[0m delimiter,\n\u001b[1;32m (...)\u001b[0m\n\u001b[0;32m 908\u001b[0m dtype_backend\u001b[38;5;241m=\u001b[39mdtype_backend,\n\u001b[0;32m 909\u001b[0m )\n\u001b[0;32m 910\u001b[0m kwds\u001b[38;5;241m.\u001b[39mupdate(kwds_defaults)\n\u001b[1;32m--> 912\u001b[0m \u001b[38;5;28;01mreturn\u001b[39;00m \u001b[43m_read\u001b[49m\u001b[43m(\u001b[49m\u001b[43mfilepath_or_buffer\u001b[49m\u001b[43m,\u001b[49m\u001b[43m \u001b[49m\u001b[43mkwds\u001b[49m\u001b[43m)\u001b[49m\n", - "File \u001b[1;32mc:\\Users\\Ivan-RTX2080\\.conda\\envs\\iderare-pheno\\lib\\site-packages\\pandas\\io\\parsers\\readers.py:577\u001b[0m, in \u001b[0;36m_read\u001b[1;34m(filepath_or_buffer, kwds)\u001b[0m\n\u001b[0;32m 574\u001b[0m _validate_names(kwds\u001b[38;5;241m.\u001b[39mget(\u001b[38;5;124m\"\u001b[39m\u001b[38;5;124mnames\u001b[39m\u001b[38;5;124m\"\u001b[39m, \u001b[38;5;28;01mNone\u001b[39;00m))\n\u001b[0;32m 576\u001b[0m \u001b[38;5;66;03m# Create the parser.\u001b[39;00m\n\u001b[1;32m--> 577\u001b[0m parser \u001b[38;5;241m=\u001b[39m \u001b[43mTextFileReader\u001b[49m\u001b[43m(\u001b[49m\u001b[43mfilepath_or_buffer\u001b[49m\u001b[43m,\u001b[49m\u001b[43m \u001b[49m\u001b[38;5;241;43m*\u001b[39;49m\u001b[38;5;241;43m*\u001b[39;49m\u001b[43mkwds\u001b[49m\u001b[43m)\u001b[49m\n\u001b[0;32m 579\u001b[0m \u001b[38;5;28;01mif\u001b[39;00m chunksize \u001b[38;5;129;01mor\u001b[39;00m iterator:\n\u001b[0;32m 580\u001b[0m \u001b[38;5;28;01mreturn\u001b[39;00m parser\n", - "File \u001b[1;32mc:\\Users\\Ivan-RTX2080\\.conda\\envs\\iderare-pheno\\lib\\site-packages\\pandas\\io\\parsers\\readers.py:1407\u001b[0m, in \u001b[0;36mTextFileReader.__init__\u001b[1;34m(self, f, engine, **kwds)\u001b[0m\n\u001b[0;32m 1404\u001b[0m \u001b[38;5;28mself\u001b[39m\u001b[38;5;241m.\u001b[39moptions[\u001b[38;5;124m\"\u001b[39m\u001b[38;5;124mhas_index_names\u001b[39m\u001b[38;5;124m\"\u001b[39m] \u001b[38;5;241m=\u001b[39m kwds[\u001b[38;5;124m\"\u001b[39m\u001b[38;5;124mhas_index_names\u001b[39m\u001b[38;5;124m\"\u001b[39m]\n\u001b[0;32m 1406\u001b[0m \u001b[38;5;28mself\u001b[39m\u001b[38;5;241m.\u001b[39mhandles: IOHandles \u001b[38;5;241m|\u001b[39m \u001b[38;5;28;01mNone\u001b[39;00m \u001b[38;5;241m=\u001b[39m \u001b[38;5;28;01mNone\u001b[39;00m\n\u001b[1;32m-> 1407\u001b[0m \u001b[38;5;28mself\u001b[39m\u001b[38;5;241m.\u001b[39m_engine \u001b[38;5;241m=\u001b[39m \u001b[38;5;28;43mself\u001b[39;49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43m_make_engine\u001b[49m\u001b[43m(\u001b[49m\u001b[43mf\u001b[49m\u001b[43m,\u001b[49m\u001b[43m \u001b[49m\u001b[38;5;28;43mself\u001b[39;49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43mengine\u001b[49m\u001b[43m)\u001b[49m\n", - "File \u001b[1;32mc:\\Users\\Ivan-RTX2080\\.conda\\envs\\iderare-pheno\\lib\\site-packages\\pandas\\io\\parsers\\readers.py:1661\u001b[0m, in \u001b[0;36mTextFileReader._make_engine\u001b[1;34m(self, f, engine)\u001b[0m\n\u001b[0;32m 1659\u001b[0m \u001b[38;5;28;01mif\u001b[39;00m \u001b[38;5;124m\"\u001b[39m\u001b[38;5;124mb\u001b[39m\u001b[38;5;124m\"\u001b[39m \u001b[38;5;129;01mnot\u001b[39;00m \u001b[38;5;129;01min\u001b[39;00m mode:\n\u001b[0;32m 1660\u001b[0m mode \u001b[38;5;241m+\u001b[39m\u001b[38;5;241m=\u001b[39m \u001b[38;5;124m\"\u001b[39m\u001b[38;5;124mb\u001b[39m\u001b[38;5;124m\"\u001b[39m\n\u001b[1;32m-> 1661\u001b[0m \u001b[38;5;28mself\u001b[39m\u001b[38;5;241m.\u001b[39mhandles \u001b[38;5;241m=\u001b[39m \u001b[43mget_handle\u001b[49m\u001b[43m(\u001b[49m\n\u001b[0;32m 1662\u001b[0m \u001b[43m \u001b[49m\u001b[43mf\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 1663\u001b[0m \u001b[43m \u001b[49m\u001b[43mmode\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 1664\u001b[0m \u001b[43m \u001b[49m\u001b[43mencoding\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[38;5;28;43mself\u001b[39;49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43moptions\u001b[49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43mget\u001b[49m\u001b[43m(\u001b[49m\u001b[38;5;124;43m\"\u001b[39;49m\u001b[38;5;124;43mencoding\u001b[39;49m\u001b[38;5;124;43m\"\u001b[39;49m\u001b[43m,\u001b[49m\u001b[43m \u001b[49m\u001b[38;5;28;43;01mNone\u001b[39;49;00m\u001b[43m)\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 1665\u001b[0m \u001b[43m \u001b[49m\u001b[43mcompression\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[38;5;28;43mself\u001b[39;49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43moptions\u001b[49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43mget\u001b[49m\u001b[43m(\u001b[49m\u001b[38;5;124;43m\"\u001b[39;49m\u001b[38;5;124;43mcompression\u001b[39;49m\u001b[38;5;124;43m\"\u001b[39;49m\u001b[43m,\u001b[49m\u001b[43m \u001b[49m\u001b[38;5;28;43;01mNone\u001b[39;49;00m\u001b[43m)\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 1666\u001b[0m \u001b[43m \u001b[49m\u001b[43mmemory_map\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[38;5;28;43mself\u001b[39;49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43moptions\u001b[49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43mget\u001b[49m\u001b[43m(\u001b[49m\u001b[38;5;124;43m\"\u001b[39;49m\u001b[38;5;124;43mmemory_map\u001b[39;49m\u001b[38;5;124;43m\"\u001b[39;49m\u001b[43m,\u001b[49m\u001b[43m \u001b[49m\u001b[38;5;28;43;01mFalse\u001b[39;49;00m\u001b[43m)\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 1667\u001b[0m \u001b[43m \u001b[49m\u001b[43mis_text\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[43mis_text\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 1668\u001b[0m \u001b[43m \u001b[49m\u001b[43merrors\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[38;5;28;43mself\u001b[39;49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43moptions\u001b[49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43mget\u001b[49m\u001b[43m(\u001b[49m\u001b[38;5;124;43m\"\u001b[39;49m\u001b[38;5;124;43mencoding_errors\u001b[39;49m\u001b[38;5;124;43m\"\u001b[39;49m\u001b[43m,\u001b[49m\u001b[43m \u001b[49m\u001b[38;5;124;43m\"\u001b[39;49m\u001b[38;5;124;43mstrict\u001b[39;49m\u001b[38;5;124;43m\"\u001b[39;49m\u001b[43m)\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 1669\u001b[0m \u001b[43m \u001b[49m\u001b[43mstorage_options\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[38;5;28;43mself\u001b[39;49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43moptions\u001b[49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43mget\u001b[49m\u001b[43m(\u001b[49m\u001b[38;5;124;43m\"\u001b[39;49m\u001b[38;5;124;43mstorage_options\u001b[39;49m\u001b[38;5;124;43m\"\u001b[39;49m\u001b[43m,\u001b[49m\u001b[43m \u001b[49m\u001b[38;5;28;43;01mNone\u001b[39;49;00m\u001b[43m)\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 1670\u001b[0m \u001b[43m\u001b[49m\u001b[43m)\u001b[49m\n\u001b[0;32m 1671\u001b[0m \u001b[38;5;28;01massert\u001b[39;00m \u001b[38;5;28mself\u001b[39m\u001b[38;5;241m.\u001b[39mhandles \u001b[38;5;129;01mis\u001b[39;00m \u001b[38;5;129;01mnot\u001b[39;00m \u001b[38;5;28;01mNone\u001b[39;00m\n\u001b[0;32m 1672\u001b[0m f \u001b[38;5;241m=\u001b[39m \u001b[38;5;28mself\u001b[39m\u001b[38;5;241m.\u001b[39mhandles\u001b[38;5;241m.\u001b[39mhandle\n", - "File \u001b[1;32mc:\\Users\\Ivan-RTX2080\\.conda\\envs\\iderare-pheno\\lib\\site-packages\\pandas\\io\\common.py:859\u001b[0m, in \u001b[0;36mget_handle\u001b[1;34m(path_or_buf, mode, encoding, compression, memory_map, is_text, errors, storage_options)\u001b[0m\n\u001b[0;32m 854\u001b[0m \u001b[38;5;28;01melif\u001b[39;00m \u001b[38;5;28misinstance\u001b[39m(handle, \u001b[38;5;28mstr\u001b[39m):\n\u001b[0;32m 855\u001b[0m \u001b[38;5;66;03m# Check whether the filename is to be opened in binary mode.\u001b[39;00m\n\u001b[0;32m 856\u001b[0m \u001b[38;5;66;03m# Binary mode does not support 'encoding' and 'newline'.\u001b[39;00m\n\u001b[0;32m 857\u001b[0m \u001b[38;5;28;01mif\u001b[39;00m ioargs\u001b[38;5;241m.\u001b[39mencoding \u001b[38;5;129;01mand\u001b[39;00m \u001b[38;5;124m\"\u001b[39m\u001b[38;5;124mb\u001b[39m\u001b[38;5;124m\"\u001b[39m \u001b[38;5;129;01mnot\u001b[39;00m \u001b[38;5;129;01min\u001b[39;00m ioargs\u001b[38;5;241m.\u001b[39mmode:\n\u001b[0;32m 858\u001b[0m \u001b[38;5;66;03m# Encoding\u001b[39;00m\n\u001b[1;32m--> 859\u001b[0m handle \u001b[38;5;241m=\u001b[39m \u001b[38;5;28;43mopen\u001b[39;49m\u001b[43m(\u001b[49m\n\u001b[0;32m 860\u001b[0m \u001b[43m \u001b[49m\u001b[43mhandle\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 861\u001b[0m \u001b[43m \u001b[49m\u001b[43mioargs\u001b[49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43mmode\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 862\u001b[0m \u001b[43m \u001b[49m\u001b[43mencoding\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[43mioargs\u001b[49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43mencoding\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 863\u001b[0m \u001b[43m \u001b[49m\u001b[43merrors\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[43merrors\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 864\u001b[0m \u001b[43m \u001b[49m\u001b[43mnewline\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[38;5;124;43m\"\u001b[39;49m\u001b[38;5;124;43m\"\u001b[39;49m\u001b[43m,\u001b[49m\n\u001b[0;32m 865\u001b[0m \u001b[43m \u001b[49m\u001b[43m)\u001b[49m\n\u001b[0;32m 866\u001b[0m \u001b[38;5;28;01melse\u001b[39;00m:\n\u001b[0;32m 867\u001b[0m \u001b[38;5;66;03m# Binary mode\u001b[39;00m\n\u001b[0;32m 868\u001b[0m handle \u001b[38;5;241m=\u001b[39m \u001b[38;5;28mopen\u001b[39m(handle, ioargs\u001b[38;5;241m.\u001b[39mmode)\n", - "\u001b[1;31mFileNotFoundError\u001b[0m: [Errno 2] No such file or directory: 'phenotype/subset/icd102omim_subset.tsv'" - ] - } - ], + "outputs": [], "source": [ "from iderare_pheno.converter import term2omim, term2orpha, term2hpo, batchconvert" ] }, { "cell_type": "code", - "execution_count": null, + "execution_count": 2, "metadata": {}, "outputs": [ { @@ -68,7 +50,7 @@ }, { "cell_type": "code", - "execution_count": null, + "execution_count": 3, "metadata": {}, "outputs": [ { @@ -96,7 +78,7 @@ }, { "cell_type": "code", - "execution_count": null, + "execution_count": 4, "metadata": {}, "outputs": [ { @@ -124,7 +106,7 @@ }, { "cell_type": "code", - "execution_count": null, + "execution_count": 5, "metadata": {}, "outputs": [ { @@ -293,29 +275,16 @@ }, { "cell_type": "code", - "execution_count": 1, + "execution_count": 6, "metadata": {}, - "outputs": [ - { - "ename": "PanicException", - "evalue": "called `Result::unwrap()` on an `Err` value: CannotOpenFile(\"d:\\\\Bioinformatics\\\\phenotype\\\\data\\\\hp.obo\")", - "output_type": "error", - "traceback": [ - "\u001b[1;31m---------------------------------------------------------------------------\u001b[0m", - "\u001b[1;31mPanicException\u001b[0m Traceback (most recent call last)", - "Cell \u001b[1;32mIn[1], line 1\u001b[0m\n\u001b[1;32m----> 1\u001b[0m \u001b[38;5;28;01mfrom\u001b[39;00m \u001b[38;5;21;01miderare_pheno\u001b[39;00m\u001b[38;5;21;01m.\u001b[39;00m\u001b[38;5;21;01msimrec\u001b[39;00m \u001b[38;5;28;01mimport\u001b[39;00m hpo2omim_similarity\n", - "File \u001b[1;32md:\\Bioinformatics\\iderare-pheno\\iderare_pheno\\simrec.py:4\u001b[0m\n\u001b[0;32m 1\u001b[0m \u001b[38;5;28;01mimport\u001b[39;00m \u001b[38;5;21;01mos\u001b[39;00m\n\u001b[0;32m 2\u001b[0m \u001b[38;5;28;01mfrom\u001b[39;00m \u001b[38;5;21;01mpyhpo\u001b[39;00m \u001b[38;5;28;01mimport\u001b[39;00m HPOSet, Omim, Ontology, stats\n\u001b[1;32m----> 4\u001b[0m \u001b[43mOntology\u001b[49m\u001b[43m(\u001b[49m\u001b[43mos\u001b[49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43mpath\u001b[49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43mabspath\u001b[49m\u001b[43m(\u001b[49m\u001b[38;5;124;43m'\u001b[39;49m\u001b[38;5;124;43m../phenotype/data\u001b[39;49m\u001b[38;5;124;43m'\u001b[39;49m\u001b[43m)\u001b[49m\u001b[43m)\u001b[49m\n\u001b[0;32m 7\u001b[0m \u001b[38;5;66;03m# Convert OMIM code to OMIM Class Object\u001b[39;00m\n\u001b[0;32m 8\u001b[0m \u001b[38;5;28;01mdef\u001b[39;00m \u001b[38;5;21momim2object\u001b[39m(omim_set):\n", - "\u001b[1;31mPanicException\u001b[0m: called `Result::unwrap()` on an `Err` value: CannotOpenFile(\"d:\\\\Bioinformatics\\\\phenotype\\\\data\\\\hp.obo\")" - ] - } - ], + "outputs": [], "source": [ "from iderare_pheno.simrec import hpo2omim_similarity" ] }, { "cell_type": "code", - "execution_count": null, + "execution_count": 7, "metadata": {}, "outputs": [], "source": [ @@ -326,7 +295,7 @@ }, { "cell_type": "code", - "execution_count": null, + "execution_count": 8, "metadata": {}, "outputs": [ { @@ -388,7 +357,7 @@ }, { "cell_type": "code", - "execution_count": null, + "execution_count": 9, "metadata": {}, "outputs": [], "source": [ @@ -397,7 +366,7 @@ }, { "cell_type": "code", - "execution_count": null, + "execution_count": 10, "metadata": {}, "outputs": [], "source": [ @@ -408,7 +377,7 @@ }, { "cell_type": "code", - "execution_count": null, + "execution_count": 11, "metadata": {}, "outputs": [ { @@ -422,7 +391,7 @@ "Similarity analysis done.\n", "\n", "Object names sorted by the highest similarities:\n", - "['HSD3B7', 'LIPA', 'AKR1D1', 'PYGL', 'BAAT', 'CDAN1', 'CALR', 'MRPL3', 'TRMT10C', 'RUNX1', 'FAH', 'LARS1', 'STEAP3', 'MYO5B', 'SLC2A2', 'KIF23', 'SLC4A1', 'PKLR', 'RHAG', 'SCO1', 'PHKG2', 'VPS45', 'TKFC', 'SP110', 'RPS14', 'GALM', 'KLF1', 'MST1', 'GPR35', 'SEMA4D', 'LARS2', 'TFAM', 'MRPS7', 'UNC13D', 'KCNN4', 'ACAD9', 'HBB', 'FERMT3', 'ABCD3', 'LCAT', 'PCCB', 'PCCA', 'UQCRB', 'RHCE', 'MPI', 'HAMP', 'SMPD1', 'STXBP2', 'MMAB', 'UQCRFS1', 'STX11', 'RACGAP1', 'SLC25A13', 'FADD', 'DCDC2', 'DEF6', 'SCARB2', 'F5', 'STX5', 'EPB42', 'ABCB4', 'SRSF2', 'JAK2', 'ATP8B1', 'FECH', 'CDIN1', 'IARS1', 'IRF8', 'SAR1B', 'MPIG6B', 'KIF12', 'PHKA2', 'PHKB', 'HBG1', 'LYRM4', 'CCDC115', 'MRPL44', 'SLC7A7', 'SPTA1', 'GALT', 'PCK1', 'DLD', 'UNC45A', 'SPTB', 'PRF1', 'ALAS2', 'TMEM165', 'EPB41', 'TET2', 'GPD1', 'SARS2', 'COX4I2', 'ABCG8', 'CD55', 'NLRC4', 'MMAA', 'AMN', 'USP53', 'ATP6AP1', 'LPIN2', 'UMPS', 'PLEKHM1', 'ATP7B', 'MPL', 'NR1H4', 'VPS33B', 'TBXAS1', 'RHD', 'FARSB', 'TALDO1', 'PALLD', 'RABL3', 'TJP2', 'TRMU', 'GYS2', 'MTTP', 'ABCC2', 'DDOST', 'HMGCL', 'HMOX1', 'MYH9', 'HADH', 'GATC', 'QRSL1', 'HBG2', 'HMGCS2', 'EARS2', 'SLC51A', 'SLC30A10', 'CYC1', 'MECOM', 'ABCB11', 'MPV17', 'NFS1', 'PSMB4', 'PSMB9', 'TMEM199', 'RBCK1', 'ALG8', 'TNFSF15', 'MMEL1', 'POU2AF1', 'SPIB', 'PRKACG', 'GFI1B', 'ALDOB', 'THPO', 'ABCA1', 'TFRC', 'ALDOA', 'GPIHBP1', 'SLC51B', 'SEMA7A', 'BLVRA', 'GIMAP5', 'GPI', 'TF', 'APOB', 'ADK', 'ITK', 'LCK', 'SPINK1', 'CD46', 'DOCK2', 'GYPC', 'RINT1', 'IVD', 'MS4A1', 'CUBN', 'FBP1', 'SLC11A2', 'DAXX', 'PRSS2', 'PRSS1', 'TCN2', 'CTRC', 'OTC', 'ACSL5', 'TNFSF12', 'B4GALT1', 'SF3B1', 'DNASE2', 'UQCRC2', 'CPT1A', 'STAT2', 'NAF1', 'NEUROG3', 'LMO1', 'ALK', 'LIN28B', 'TOP2A', 'HAVCR2', 'SERPINA1', 'NBEAL2', 'SLC40A1', 'LPL', 'CYP7B1', 'SH2B3', 'EIF2AK3', 'COX10', 'ADAMTS13', 'SLC25A38', 'IRF2BP2', 'ASL', 'NPC1', 'ZNFX1', 'PIEZO1', 'SLC22A5', 'XIAP', 'MTHFD1', 'AMACR', 'FOCAD', 'CA2', 'HSCB', 'SH2D1A', 'NFKB1', 'GATB', 'IL12RB1', 'FTH1', 'ACAD8', 'HJV', 'ACSF3', 'GATA1', 'TNFRSF13B', 'ACADM', 'CSF3R', 'ZFYVE19', 'IKZF1', 'GATA2', 'ALG6', 'TNFRSF13C', 'GLRX5', 'CD81', 'G6PC1', 'RAG2', 'DHFR', 'CELA2A', 'SBDS', 'MTO1', 'BPGM', 'SLC4A2', 'EPOR', 'PSMB10', 'PKHD1', 'EPO', 'EFL1', 'XK', 'GP1BA', 'ICOS', 'RIPK1', 'OSTM1', 'CD27', 'GSS', 'PCK2', 'IL18BP', 'DPYS', 'ATP6V0A4', 'PGM1', 'TRNT1', 'RAG1', 'NHLRC2', 'MDM4', 'DGUOK', 'GCLC', 'CORIN', 'MRPS2', 'MICOS13', 'HELLPAR', 'HNF4A', 'BCS1L', 'IFT56', 'GALK1', 'YARS1', 'ITGA2B', 'HLA-DQA1', 'KRT18', 'AK2', 'TMPRSS6', 'UROD', 'ACAT1', 'ERCC6L2', 'MARS1', 'DGAT1', 'G6PC3', 'SLC9A3', 'CD19', 'TLR8', 'ETV6', 'TNPO3', 'AHCY', 'SLC37A4', 'APOE', 'CYP7A1', 'SUGCT', 'SMARCD2', 'EWSR1', 'CD36', 'PIK3CG', 'FARSA', 'HBA2', 'SLCO2A1', 'FOXP3', 'ABHD5', 'MMUT', 'LYST', 'SRC', 'SLC25A20', 'ACTN4', 'APOA1', 'NSMCE2', 'CBLIF', 'SRP54', 'HADHB', 'HBA1', 'ALB', 'SYK', 'RFX6', 'COA8', 'DNAJC19', 'PNPO', 'KIF20A', 'ASS1', 'GFM1', 'SNX10', 'NDUFB7', 'IGH', 'SLC25A3', 'UBR1', 'G6PD', 'HCK', 'PSTPIP1', 'CAD', 'SLC5A1', 'SURF1', 'SI', 'TMPRSS15', 'GALE', 'SLC25A15', 'MT-TN', 'DZIP1L', 'ABCD4', 'CFB', 'SERPINA6', 'IL21R', 'MYC', 'FYB1', 'HFE', 'PET100', 'CEACAM3', 'SLC11A1', 'CEACAM6', 'GSTM3', 'SLC6A14', 'DCTN4', 'SLC26A9', 'CLCA4', 'LMBRD1', 'ERBB3', 'USP18', 'MIF', 'RARA', 'NUMA1', 'IL37', 'F12', 'COG7', 'COG6', 'UROS', 'ASAH1', 'TPI1', 'COG4', 'SLC26A3', 'VWF', 'TNFSF11', 'WRAP53', 'ACADVL', 'PRKCSH', 'PFKM', 'THBD', 'AGXT', 'FCGR2A', 'ANKRD26', 'FTCD', 'HADHA', 'TFR2', 'FLT1', 'LACC1', 'VPS50', 'STAT5B', 'IRF5', 'TYMP', 'LIG3', 'APOA5', 'PUS1', 'ZBTB16', 'PML', 'NABP1', 'FIP1L1', 'KLKB1', 'MTRR', 'TRAC', 'PIGM', 'LAT', 'RNU7-1', 'YARS2', 'MRPS28', 'KHK', 'GBE1', 'UGT1A1', 'CYP27B1', 'NDUFB8', 'CYP2R1', 'AP1S3', 'CA5A', 'SHPK', 'BMP6', 'GDF2', 'LDLRAP1', 'FGA', 'CBL', 'MCEE', 'VKORC1', 'SKIC3', 'LCT', 'RPSA', 'RAB27A', 'F13B', 'STOX1', 'NR3C2', 'CP', 'FGF23', 'IL7R', 'NPC2', 'NDUFA2', 'MCCC2', 'RAC2', 'VIPAS39', 'NDUFAF1', 'TUFM', 'F13A1', 'PDSS2', 'NPM1', 'F2', 'GP9', 'SLC19A1', 'PHOX2B', 'APOC2', 'ACD', 'SAMD9', 'PLVAP', 'IL1RN', 'TIMM22', 'PEPD', 'COG8', 'SAMD9L', 'ALPL', 'OCLN', 'NT5C3A', 'PTPRJ', 'RPL27', 'ACTN1', 'UQCC3', 'PRDX1', 'POLG2', 'DNAJC21', 'WDR1', 'FMO3', 'CLPB', 'CFTR', 'TNFRSF4', 'SFXN4', 'GATM', 'TOM1', 'ITGB3', 'HLCS', 'MTR', 'ACOX2', 'MALT1', 'PERCC1', 'TEK', 'F11', 'JAGN1', 'TGFB1', 'LDLR', 'AP1B1', 'MMADHC', 'LIPC', 'CTSA', 'C2orf69', 'CLDN1', 'TCIRG1', 'TREH', 'AGGF1', 'ARPC1B', 'UQCRH', 'ADH5', 'LRRK1', 'LYZ', 'C3', 'LIPT1', 'CYP19A1', 'RFT1', 'PCSK9', 'CYB561', 'ABCG5', 'ANK1', 'NEK8', 'RPL35', 'PRKCD', 'TCF3', 'DCLRE1C', 'BCHE', 'MRM2', 'COX5A', 'SERAC1', 'ISCU', 'CUL3', 'CR2', 'MPO', 'TRMT5', 'FDX2', 'SLC34A1', 'ZAP70', 'ADA', 'LRBA', 'TPMT', 'JAK1', 'OPLAH', 'SLC52A1', 'NAGS', 'SLC17A5', 'MVK', 'REL', 'NHP2', 'CETP', 'SGO1', 'RHBDF2', 'CPS1', 'DGKE', 'ABL1', 'IL12A', 'CAT', 'HBD', 'CD3D', 'PC', 'HSD11B2', 'BTNL2', 'BCAT2', 'KIT', 'GAA', 'CBS', 'NOP10', 'MCM4', 'PNPLA2', 'RMND1', 'FAM111A', 'COX14', 'CD40LG', 'IL36RN', 'ELANE', 'STAT1', 'RFXANK', 'RFX5', 'RFXAP', 'SLC46A1', 'CLMP', 'PTPRC', 'USB1', 'C1GALT1C1', 'RPL18', 'ALG1', 'GSTZ1', 'CAVIN1', 'ELAC2', 'LMAN1', 'COX16', 'DDX41', 'SKIC2', 'RTEL1', 'ORAI1', 'IFNGR1', 'MCCC1', 'MRPS16', 'MIPEP', 'PARN', 'RPS27', 'SGMS2', 'SLC4A4', 'CPA1', 'RPS15A', 'CASR', 'EHHADH', 'ACVRL1', 'IL2RB', 'PPOX', 'GLIS3', 'BIRC3', 'ASXL1', 'CIITA', 'WIPF1', 'CLCN7', 'CFHR3', 'CFHR1', 'NSUN3', 'FH', 'CA12', 'MRPS23', 'TYMS', 'SCYL1', 'STING1', 'CPOX', 'TERC', 'SLC35A1', 'TPP2', 'UQCC2', 'RPL5', 'IL6', 'RPS24', 'MSMO1', 'TPM4', 'RPL11', 'ELMO2', 'SUCLG1', 'PAX4', 'CASP8', 'SOCS1', 'CYCS', 'PSMG2', 'FSHR', 'ITCH', 'RPS10', 'DPM2', 'LRPPRC', 'NFKB2', 'MLYCD', 'RPS17', 'RPL15', 'PDSS1', 'OTULIN', 'SLC10A1', 'SLC25A21', 'ARG1', 'CD70', 'NPHP3', 'COX6B1', 'COA6', 'POLRMT', 'SLC25A10', 'ENG', 'NAE1', 'RPL35A', 'DLL4', 'CYBC1', 'SC5D', 'RPS7', 'RASGRP1', 'HACE1', 'CTC1', 'COG2', 'B2M', 'PPARG', 'ELF4', 'CCND1', 'SEC63', 'ANKS6', 'EPHB4', 'ACVR1', 'MC4R', 'ALPK1', 'TCF4', 'AVP', 'STX3', 'STT3B', 'BCL10', 'SCNN1A', 'DMP1', 'ACACA', 'STIM1', 'SMC5', 'SCNN1B', 'TINF2', 'DSG1', 'NOTCH1', 'SCNN1G', 'P2RY12', 'MT-TV', 'AGK', 'GHSR', 'CSF2RA', 'SLC19A2', 'RPS29', 'PRIM1', 'SLC12A1', 'SCN11A', 'MPC1', 'CYP2C9', 'HIBCH', 'CFI', 'SLC25A19', 'NDUFB9', 'MOGS', 'TBX19', 'EDNRA', 'HPD', 'EPHB2', 'PLAU', 'HNF1A', 'BACH2', 'MRPS14', 'PALB2', 'PEX14', 'CRIPT', 'FLI1', 'COX15', 'WNT2B', 'RPS26', 'RPL26', 'SLC39A7', 'CPT2', 'CTNS', 'RNASEH2A', 'THRA', 'HPGD', 'PSMB8', 'SERPINF2', 'PLD1', 'MYCN', 'FGG', 'FGB', 'SCN10A', 'CREB3L3', 'GOT2', 'KCNJ1', 'ALG3', 'LYRM7', 'MYSM1', 'TNFRSF11A', 'ANO6', 'LDHA', 'SERPINE1', 'CFH', 'WRN', 'STN1', 'NHERF1', 'KARS1', 'YIPF5', 'PCSK1', 'ETFA', 'ETFB', 'ETFDH', 'SLC34A3', 'CARD11', 'ARFGEF2', 'ATPAF2', 'DPM1', 'IFNG', 'ADCY10', 'SLC25A26', 'BRCA1', 'ACADS', 'PTF1A', 'WAS', 'COQ9', 'POMC', 'IFIH1', 'DIAPH1', 'SEC61A1', 'HRG', 'PLA2G7', 'SUCLA2', 'CYP3A4', 'AP1S1', 'GK', 'LEMD2', 'NOS3', 'NDUFB10', 'FARS2', 'NDUFS4', 'MYD88', 'RPL13', 'PMM2', 'NDUFV1', 'NPHP4', 'TSFM', 'SLCO1B3', 'SLCO1B1', 'BCL2', 'BCL6', 'INS', 'RIT1', 'MET', 'CASP10', 'PSMC1', 'PLA2G4A', 'BCAP31', 'PROS1', 'MCM10', 'TARS2', 'TRAF3IP1', 'ETHE1', 'CD3E', 'NFKBIA', 'INVS', 'WNK1', 'NFU1', 'ATP5F1A', 'GP6', 'XPR1', 'RPS28', 'TP53', 'AGR2', 'ALAD', 'HELLS', 'SLC10A2', 'NDUFAF8', 'CYP24A1', 'NHEJ1', 'VPS33A', 'DMGDH', 'NDUFS3', 'CD247', 'BLK', 'IL12B', 'OGDH', 'HOXA11', 'IKZF5', 'AKT2', 'HEATR3', 'TNFRSF9', 'SMARCAL1', 'AQP2', 'CEL', 'ZNF668', 'REN', 'CYB5R3', 'C1QBP', 'GBA1', 'JAK3', 'FOS', 'TBXA2R', 'PHLDB1', 'FASLG', 'ANKRD55', 'PTPN2', 'SLFN14', 'LPIN1', 'GFI1', 'CEBPE', 'MRPS22', 'RPS19', 'MMACHC', 'MRPL12', 'IDH2', 'SRD5A3', 'NDUFAF4', 'KLF11', 'ABCC6', 'HAGH', 'NDUFA11', 'DNMT3B', 'AGPS', 'POU6F2', 'PDGFRA', 'SQOR', 'SMAD4', 'IRF4', 'DYRK1B', 'GCM2', 'SLC16A1', 'GTPBP3', 'ESR1', 'ISCA1', 'CDC40', 'NEUROD1', 'IL2RA', 'SAA1', 'ATP5F1B', 'NSMCE3', 'OBSCN', 'ADAR', 'BCKDHA', 'PEX2', 'TULP3', 'NCF4', 'NDUFB3', 'ZFP57', 'TMEM67', 'AGPAT2', 'ZNF699', 'NCF2', 'HSD17B4', 'NDUFS7', 'NDUFA9', 'CIDEC', 'P4HA2', 'LRRC8A', 'KIF3B', 'NDUFA8', 'MEF2A', 'AP3B1', 'CD3G', 'SLF2', 'PDX1', 'PAPPA2', 'COX20', 'NDUFA4', 'FBXL4', 'IL2RG', 'MCFD2', 'CYBA', 'LIAS', 'PDP1', 'PITRM1', 'TMEM126B', 'DBH', 'NGLY1', 'SOS2', 'AUH', 'ADA2', 'GPX1', 'ALG12', 'APPL1', 'RPL9', 'RPL31', 'RPL8', 'SLC39A8', 'NLRP1', 'COX4I1', 'XDH', 'FUT8', 'DNASE1', 'FCGR2B', 'EPAS1', 'POMP', 'ARF1', 'GCDH', 'PMPCB', 'F7', 'APRT', 'ALDH2', 'SLC12A3', 'SLC29A3', 'TRPV6', 'KNG1', 'DDRGK1', 'ENPP1', 'GNA14', 'SAMHD1', 'ARHGAP31', 'EPHX2', 'APOA2', 'PPP1R17', 'ANTXR2', 'NDUFS6', 'MBTPS1', 'RRM2B', 'ADAMTS19', 'POLD1', 'MYBPC3', 'CSF2RB', 'SAT1', 'AGL', 'SLC39A4', 'CEP83', 'NPHS1', 'CISD2', 'GCK', 'CDKN2A', 'ANO1', 'SASH3', 'BRCA2', 'TMEM70', 'RBPJ', 'HSPA9', 'NDUFS1', 'HLA-B', 'DPP9', 'DOLK', 'CREB3L1', 'KLHL3', 'SEC23B', 'SGSH', 'EOGT', 'RRAS2', 'AK1', 'NLRP3', 'MT-TK', 'NDUFA10', 'STAT3', 'GNMT', 'PRLR', 'NADK2', 'IL21', 'SLC25A4', 'IKBKB', 'C1QB', 'CYP2A6', 'RPGRIP1L', 'MUC1', 'MT-ND3', 'COG1', 'JAM2', 'IRAK1', 'SPP1', 'IGLL1', 'COX8A', 'LIPT2', 'GUCY1A1', 'NDUFA6', 'GCGR', 'NDUFS2', 'KIF1B', 'PRG4', 'SOS1', 'NDUFA13', 'IKZF3', 'MT-ND2', 'SPI1', 'MRAS', 'HLA-DQB1', 'TNFRSF11B', 'MT-TT', 'NLRP12', 'MEFV', 'RNASEH2C', 'NDUFV2', 'ESR2', 'SLC3A1', 'TSR2', 'LBR', 'HPS6', 'CARD9', 'HNRNPA2B1', 'FCHO1', 'CNOT1', 'CDCA7', 'DUT', 'ALG11', 'PEX13', 'CLPX', 'TIMMDC1', 'BTK', 'DKC1', 'TANGO2', 'F8', 'ADAMTSL2', 'AFP', 'CD79A', 'PNP', 'RNASEH2B', 'MT-TW', 'PEX12', 'NT5E', 'HGD', 'SRP72', 'NOD2', 'PIGA', 'LTC4S', 'STK11', 'RORC', 'ERBB2', 'TNFAIP3', 'PPA2', 'ALMS1', 'UPB1', 'CD109', 'ITGA2', 'PEX16', 'BLNK', 'GANAB', 'STAT6', 'NAB2', 'TNNI3', 'HYOU1', 'ACVR2B', 'LSM11', 'BLOC1S6', 'EGLN1', 'IGFBP7', 'CD79B', 'KCNJ16', 'GUCY2C', 'CACNA1S', 'PLIN1', 'CYP11B2', 'BCL11A', 'NUBPL', 'VPS51', 'STAT4', 'FCGR3B', 'FDFT1', 'ATM', 'CALCR', 'PDLIM4', 'MLX', 'NDUFAF3', 'SLC5A2', 'HNF1B', 'COQ4', 'TSHB', 'MPDU1', 'ZNF687', 'NCKAP1L', 'NDUFAF6', 'GEMIN4', 'PKD2', 'BMP2', 'ANAPC1', 'HPS4', 'COG5', 'TNNT2', 'MAD2L2', 'MT-ND4', 'TRPC6', 'REST', 'VDR', 'IGF1', 'XRCC4', 'GSR', 'LIPE', 'GDF1', 'AASS', 'SCO2', 'F10', 'PREPL', 'PEX26', 'PNPLA8', 'NDUFAF5', 'AARS2', 'NUP205', 'NDUFS8', 'BCR', 'MT-CO1', 'PHEX', 'KCNJ11', 'NCAPG2', 'MT-TS1', 'IGHM', 'AMPD1', 'GLA', 'CYP11A1', 'CDC73', 'MTX2', 'SMAD6', 'OXCT1', 'PBX1', 'HYMAI', 'PDHX', 'ADRB3', 'AGRP', 'CARTPT', 'UCP3', 'NR0B2', 'SDC3', 'GHRL', 'GNPAT', 'NPHS2', 'GLYCTK', 'JAZF1', 'ITGAM', 'UBE2L3', 'PXK', 'IGHG1', 'ETS1', 'TNIP1', 'BANK1', 'GNPTG', 'WFS1', 'PAX2', 'SLC35C1', 'UBE2T', 'MT-TC', 'COQ2', 'MYORG', 'EDNRB', 'PRSS12', 'HTRA2', 'SERPINC1', 'DPAGT1', 'GDNF', 'GNE', 'NDUFAF2', 'BMPR1A', 'SSR4', 'NPPA', 'MAGI2', 'TTC7A', 'ANGPTL3', 'PPCS', 'PSAP', 'PTH1R', 'BRIP1', 'MT-ND6', 'CTNNBL1', 'ZBTB24', 'NRXN1', 'MT-CO3', 'BMPR2', 'RB1', 'THSD1', 'OCRL', 'GGCX', 'PEX19', 'SLC25A36', 'SLC20A2', 'ABCC8', 'MCM6', 'TNFRSF1A', 'GATA6', 'FOXRED1', 'MT-TI', 'F9', 'PDHB', 'ALG13', 'NUP93', 'OAS1', 'TBL1XR1', 'NFE2L2', 'ECE1', 'ATRX', 'HPS3', 'RFWD3', 'UBA2', 'VARS2', 'C4B', 'RELB', 'DPM3', 'RRAS', 'RASA2', 'MT-ND5', 'EMP2', 'PTPRO', 'DUOXA2', 'LHX1', 'KCNE1', 'ARMC5', 'SUOX', 'CYBB', 'PTPN22', 'TAPT1', 'HS3ST6', 'MT-CO2', 'COX6A2', 'IYD', 'FAS', 'YY1AP1', 'NAGLU', 'PNLIP', 'ABCB6', 'RRAGD', 'TTC21B', 'FANCE', 'CARS2', 'FANCA', 'CCDC134', 'PEX11B', 'FANCC', 'MGAT2', 'CHRNA3', 'PLOD2', 'VPS13A', 'HEXB', 'COPB2', 'RIGI', 'KYNU', 'RBM8A', 'SMAD2', 'ABCB7', 'SLC25A42', 'GREM1', 'TLL1', 'NUP160', 'ANLN', 'VHL', 'BMS1', 'NEU1', 'SLC5A5', 'TTR', 'MT-TL1', 'TREX1', 'FASTKD2', 'MTHFR', 'MMP1', 'SETX', 'CLCNKB', 'BSND', 'C4A', 'MYLK', 'SRP19', 'EGFR', 'WNK4', 'CAV1', 'NDUFA12', 'LIG4', 'CCDC47', 'ARSB', 'MOCS1', 'ACOX1', 'ECHS1', 'SPRED2', 'CENPT', 'LAMC2', 'MT-TF', 'SLX4', 'RARS2', 'CIROP', 'MT-TQ', 'POLG', 'GH1', 'SIK3', 'DCXR', 'PLOD3', 'BANF1', 'KIAA0319L', 'SECISBP2', 'TLR7', 'MT-ND1', 'CCDC32', 'TPO', 'MED17', 'NUP214', 'LZTR1', 'IREB2', 'NKX2-6', 'NBAS', 'DAAM2', 'PLCE1', 'FANCF', 'RPS20', 'MAP2K1', 'PIGH', 'BOLA3', 'KL', 'RECQL', 'COX11', 'GGPS1', 'NOTCH2', 'FUCA1', 'NARS2', 'HSD17B10', 'ATP11C', 'TXNRD2', 'GLUD1', 'MMP14', 'HPS5', 'PDCD1', 'SMAD3', 'CEP19', 'SERPIND1', 'GALNT2', 'GINS1', 'SPRTN', 'DNASE1L3', 'THRB', 'FANCD2', 'CACNA1D', 'H19', 'IFT122', 'EPCAM', 'CD59', 'MYO1E', 'PET117', 'DIS3L2', 'SEMA3C', 'SEMA3D', 'NRTN', 'MRPS34', 'MT-CYB', 'CBFB', 'GFER', 'TMTC3', 'LAMB3', 'IRAK4', 'SLC31A1', 'TBC1D8B', 'DHCR24', 'FANCI', 'CYP27A1', 'POU1F1', 'HLA-DRB1', 'TSHR', 'MBL2', 'DUOX2', 'PEX3', 'PNPT1', 'NAXD', 'TRAPPC11', 'ALG2', 'PRKAG2', 'FANCG', 'AP2S1', 'SPARC', 'UCP2', 'GPR161', 'IDH1', 'IL6ST', 'PHF21A', 'BMP1', 'PRORP', 'JPH2', 'ACTG2', 'TG', 'NNT', 'CAV3', 'RARB', 'PLG', 'PTPN11', 'STAR', 'ATP5F1D', 'FANCL', 'TAOK1', 'DOCK6', 'STRA6', 'FKBP10', 'SFTPA2', 'MUC5B', 'RASGRP2', 'HMBS', 'DDC', 'MDH2', 'TBL1X', 'BBS12', 'RMRP', 'COQ8B', 'ARHGDIA', 'GP1BB', 'TRIM37', 'TERT', 'UBA1', 'TUBB1', 'NPR2', 'MT-TP', 'YME1L1', 'RASA1', 'KIF15', 'CD28', 'TNFRSF1B', 'FANCM', 'PIK3CD', 'MRAP', 'COQ7', 'DCLRE1B', 'CXCR4', 'TAFAZZIN', 'ERCC4', 'NOS1', 'LRP6', 'MT-TH', 'BAG5', 'STX16', 'TRPM7', 'PIGC', 'JAG1', 'DSG2', 'HK1', 'LAMA3', 'PLOD1', 'ALDH6A1', 'ADCY3', 'CEP164', 'CRAT', 'GET4', 'CLDN16', 'CTLA4', 'SERPING1', 'CAMKMT', 'PPM1B', 'BNC1', 'MT-TS2', 'LMOD2', 'TICAM1', 'TWNK', 'INF2', 'LEMD3', 'BTD', 'POLR3K', 'ATP7A', 'FCGR2C', 'SNIP1', 'DNAJC3', 'NUP37', 'USP8', 'GATA5', 'PEX10', 'LCP2', 'ATP5F1E', 'DTYMK', 'RAD51C', 'IER3IP1', 'IFT172', 'FAM111B', 'LTBP4', 'PRKG1', 'IL10', 'PRKACA', 'ZCCHC8', 'GGT1', 'FOXP1', 'IRX5', 'ATAD3A', 'UQCRQ', 'CXCR2', 'XRCC2', 'SDHA', 'GLB1', 'FN1', 'TXN2', 'INSR', 'COL4A5', 'NDUFC2', 'INPP5E', 'OTUD5', 'NDUFA1', 'NPHP1', 'GUSB', 'DYNC2LI1', 'MC2R', 'TRIM28', 'LHX4', 'TAB2', 'ERCC8', 'ERMARD', 'MAN2B1', 'WDPCP', 'GNPTAB', 'LMF1', 'CLCN2', 'CNTN1', 'RAD51', 'CDKN1B', 'KCNQ1', 'WNT1', 'BBIP1', 'ZBTB7A', 'RPA1', 'CCN6', 'IFT140', 'CLCNKA', 'MAGT1', 'FLAD1', 'GPHN', 'BMP15', 'COL7A1', 'CC2D2A', 'CASK', 'LRP5', 'SFTPC', 'WARS2', 'NKX2-5', 'IGF2BP2', 'PTPN1', 'RETN', 'PPP1R3A', 'HMGA1', 'TCF7L2', 'IRS2', 'MTNR1B', 'SLC30A8', 'IRS1', 'MAPK8IP1', 'GPD2', 'TGFB2', 'PTPN3', 'BBS5', 'SLC34A2', 'SOD1', 'PRKAR1A', 'BBS7', 'ATP5MK', 'HIKESHI', 'DTNBP1', 'RBM20', 'PIK3R5', 'ADAMTS3', 'ARL6IP6', 'VPS4A', 'GATAD1', 'BBS10', 'TRHR', 'CFC1', 'MFAP5', 'PSMC3IP', 'CYP21A2', 'P3H1', 'SHOC2', 'GNAS', 'MADD', 'TYROBP', 'CPSF3', 'TRDN', 'PGM3', 'SCN5A', 'PTRH2', 'TGFB3', 'CRB2', 'DYNC2I1', 'GTF2H5', 'ITGA3', 'ADAMTS2', 'TNFSF4', 'STT3A', 'COQ8A', 'CCBE1', 'PAX8', 'RETREG1', 'SDCCAG8', 'ENO3', 'RYR1', 'RNF213', 'CARD10', 'ACAT2', 'HNRNPA1', 'TIMM50', 'MAT1A', 'TLR3', 'ZIC3', 'UFSP2', 'WDR35', 'LAMA5', 'EDN3', 'LINS1', 'LBX1', 'CHEK2', 'SPIDR', 'BBS4', 'HSPD1', 'MYH11', 'HSD11B1', 'PHGDH', 'SGCD', 'AGA', 'XYLT2', 'KPTN', 'PEX6', 'ACTA2', 'NSF', 'PKD1', 'KCNJ5', 'STX1A', 'PROP1', 'C18orf32', 'EMG1', 'KRAS', 'POT1', 'NSUN2', 'RAF1', 'TOP3A', 'NEDD4L', 'BBS9', 'ATP6V0A1', 'MYL3', 'POC1A', 'PLN', 'COL5A2', 'DEGS1', 'UNC93B1', 'GALNS', 'GFM2', 'ARHGEF1', 'DIO1', 'NCAPH', 'SCN2B', 'COL1A2', 'COL1A1', 'MMP21', 'RNF168', 'AFG2A', 'ATP6AP2', 'CELSR1', 'TDP1', 'TGFBR1', 'ALG9', 'MTAP', 'VEZF1', 'CSRP3', 'PROC', 'NBN', 'MKKS', 'MIA3', 'ZBTB20', 'EPG5', 'CASQ2', 'TLR4', 'ERAP1', 'KLRC4', 'CCR1', 'IL23R', 'IL12A-AS1', 'UBAC2', 'MOCS2', 'ADAM17', 'GNAS-AS1', 'TCAP', 'SLC2A9', 'DES', 'ROBO4', 'NOS1AP', 'SLC39A13', 'NCF1', 'MT-ATP6', 'SIL1', 'ZPR1', 'COL4A3', 'EN1', 'TMEM38B', 'SH3BP2', 'TGFBR2', 'LAMA4', 'TNNC2', 'IL6R', 'SH2B1', 'TRAF3', 'NUP85', 'GPAA1', 'LHX3', 'IBA57', 'KRIT1', 'FAT4', 'COMT', 'PDHA1', 'TKT', 'PPIL1', 'DMPK', 'RPL3L', 'IFITM5', 'THSD4', 'PRDM16', 'MYL2', 'ACP5', 'FCSK', 'ZSWIM7', 'GOLGA2', 'DNM1L', 'TBX20', 'FKBP14', 'PIK3R1', 'PIGT', 'P4HB', 'VPS11', 'APTX', 'PEX5', 'DCHS1', 'TPK1', 'CITED2', 'ELP1', 'LOX', 'WT1', 'ITGB2', 'ERCC6', 'GHR', 'VPS53', 'IFT27', 'HMGA2', 'AVPR2', 'CTCF', 'SDHC', 'MYL4', 'SCN3B', 'PIGB', 'NR3C1', 'FLNC', 'SDHD', 'RNF125', 'KCNE2', 'HPDL', 'ITPR2', 'SLC25A11', 'IGHMBP2', 'SPINK5', 'PLAGL1', 'PTCD3', 'AMPD2', 'MYPN', 'PPFIBP1', 'MCM9', 'AIRE', 'CYP17A1', 'NRAS', 'LIG1', 'KCNE3', 'KLHDC8B', 'MYRF', 'TRPM4', 'TRIP13', 'TNNC1', 'H4C3', 'BSCL2', 'ST3GAL5', 'PLAG1', 'DNAJB11', 'SCN4B', 'CRLF1', 'SLC30A9', 'IGKC', 'NTRK1', 'DOHH', 'FOXF1', 'SCLT1', 'CD2AP', 'CHD7', 'DMD', 'PDGFRL', 'DLAT', 'PIGK', 'NCAPD2', 'GLI1', 'MED12', 'KMT5B', 'ADAMTS10', 'ITPR3', 'DLST', 'RARS1', 'NKX3-2', 'CDK5', 'SGPL1', 'GNB2', 'SLC2A1', 'MICU1', 'VCL', 'IL17RD', 'FBP2', 'TECTA', 'KDELR2', 'DHCR7', 'ABCA12', 'GAPVD1', 'ARHGAP24', 'ANKFY1', 'EXT2', 'IL1R1', 'ARL6', 'CALM3', 'OSGEP', 'CYB5A', 'PRPH', 'HIVEP2', 'PIK3C2A', 'LZTFL1', 'TDP2', 'SREBF1', 'SOST', 'CACNB2', 'PKP2', 'NUP155', 'SLC36A2', 'LMNB2', 'MSH4', 'MAP1B', 'HESX1', 'POLR2A', 'HAL', 'CIC', 'CD40', 'MNS1', 'GPD1L', 'HNRNPH1', 'TFE3', 'TMEM127', 'MAX', 'PRDM5', 'PLPBP', 'KCNA5', 'FLT4', 'EXOSC8', 'CST3', 'ANK2', 'MTFMT', 'CARD8', 'BUB1B', 'HTR1A', 'DSC2', 'DNM2', 'RIN2', 'PLEKHG5', 'ALG5', 'AKAP9', 'NEXN', 'CHRM3', 'SFRP4', 'KDM6A', 'KRT13', 'IPO8', 'MYH6', 'BLM', 'LETM1', 'KCNH2', 'APOL1', 'EPX', 'TENT5A', 'IQCB1', 'PYGM', 'BBS1', 'BCOR', 'TRAPPC2', 'NUP107', 'PARS2', 'SLC4A3', 'TBX1', 'KCNJ18', 'EXOSC3', 'TNNI3K', 'AMPD3', 'ARVCF', 'RREB1', 'JMJD1C', 'SEC24C', 'HIRA', 'UFD1', 'AGO2', 'GNA11', 'COL5A1', 'KISS1R', 'GRIA4', 'CD244', 'SLC22A4', 'NFKBIL1', 'SCAPER', 'TRIM32', 'NAT2', 'CES1', 'JPH1', 'CFAP418', 'ARCN1', 'INPPL1', 'FNIP1', 'MLIP', 'KCNK3', 'DZIP1', 'AP3D1', 'BICC1', 'ALPK3', 'CDKN1A', 'CDKN2C', 'PMS2', 'SNTA1', 'TPM1', 'SLC35A2', 'SARDH', 'ACTC1', 'MAPKAPK5', 'CD96', 'ABCA3', 'B4GALT7', 'DPP6', 'NPR3', 'NAGA', 'MSH2', 'CCM2', 'AICDA', 'NUDT2', 'ITGB4', 'NACC1', 'PEX1', 'ALDH7A1', 'ALDH1A2', 'CDKN1C', 'SDHAF2', 'CHST3', 'SDHB', 'ASXL2', 'DOCK8', 'ANKH', 'TRH', 'FBN2', 'ZNF341', 'CRLS1', 'PWRN1', 'IPW', 'NPAP1', 'PWAR1', 'SNORD116-1', 'SNORD115-1', '-', 'FANCB', 'MANBA', 'H3-3B', 'DYNC2I2', 'PEX7', 'CALCRL', 'SLC7A9', 'PTPN14', 'SOX18', 'MPEG1', 'CTSK', 'GET3', 'JAM3', 'IFT80', 'RNF13', 'PTH', 'FBXW7', 'CCDC28B', 'LYSET', 'LGI3', 'GTF2E2', 'PYCR1', 'ZNF469', 'STK4', 'C9orf72', 'DCTN1', 'ANGPT1', 'SEC31A', 'IDUA', 'HS6ST2', 'KRT10', 'TIE1', 'TAF13', 'FKBP6', 'HABP2', 'ATP6V1B1', 'EIF5A', 'TRIT1', 'RBM10', 'PKD1L1', 'ABCD1', 'MMP13', 'GALC', 'NAXE', 'KCNJ10', 'TBX2', 'DYM', 'PIGS', 'WDR19', 'ZNF335', 'VEGFC', 'FGFRL1', '-', 'KRT6B', 'AIMP1', 'MB', 'NCAPD3', 'TXNDC15', 'POLE', 'MYO1H', 'CALM2', 'MSH6', 'EPRS1', 'CYP2D6', 'PIGU', 'PGR', 'SLC2A10', 'RET', 'SPR', 'PDCD10', 'HACD1', 'STAG1', 'TUBA4A', 'CALM1', 'CARS1', 'PIGG', 'TTC8', 'FOXN1', 'WDR4', 'DNAJC30', 'HERC2', 'TFG', 'CFAP53', 'SPPL2A', 'ATPAF1', 'LRSAM1', 'MKRN3', 'TRIP11', 'HCN4', 'RNU4ATAC', 'SLC26A4', 'IFT74', 'ASPA', 'BGN', 'CSPP1', 'MUTYH', 'SUMF1', 'TMEM260', 'PMS1', 'TIA1', 'LIMS2', 'UNC80', 'AGTPBP1', 'SHOX', 'RNF2', 'BBS2', 'PLXND1', 'NEFH', 'ALDH4A1', 'RYR2', 'NAT8L', 'GUF1', 'TOR1A', 'ARPC4', 'NHLH2', 'CORO1A', 'TNPO2', 'TSPAN12', 'CSNK2A1', 'NR2F2', 'ESCO2', 'HPRT1', 'FHOD3', 'NGF', 'GORAB', 'KMT2E', 'TAC3', 'MT-TE', 'GNS', 'CDKN2B', 'PSPH', 'SPTBN4', 'CDC42', 'GLE1', 'USP48', 'SP7', 'SFTPB', 'ACVR1B', 'CFAP45', 'LMNA', 'BPTF', 'IL17F', 'FERMT1', 'MYL11', 'LONP1', 'FOXA2', 'RNF43', 'ACTN2', 'MATR3', 'MLXIPL', 'C19orf12', 'LMOD1', 'ALG10B', 'CNNM2', 'NAA20', 'PDGFRB', 'TARS1', 'UFM1', 'VRK1', 'TNF', 'PLIN4', 'FLRT3', 'DNAL1', 'MCM5', 'CRYBB3', 'ENAM', 'CEACAM16', 'METTL27', 'GTF2I', 'LIMK1', 'VPS37D', 'CLIP2', 'BUD23', 'GTF2IRD2', 'EIF4H', 'BAZ1B', 'TMEM270', 'RFC2', 'GTF2IRD1', 'BCL7B', 'TBL2', 'ELMOD3', 'HLA-DPA1', 'PRTN3', 'PCGF2', 'MYLK2', 'ATP9A', 'DNAJB4', 'MMP2', 'FAN1', 'FTO', 'KRT4', 'HNMT', 'APOC3', 'C5', 'CARMIL2', 'PRKACB', 'SCN9A', 'SLC12A5', 'IL10RA', 'CTBP1', 'CLEC7A', 'COL3A1', 'CPN1', 'NAA15', 'ITGA7', 'PDE11A', 'PACS2', 'NSMF', 'SKI', 'CTPS1', 'IDS', 'GNRHR', 'MEN1', 'KRT2', 'ABCC9', 'KISS1', 'PHYH', 'TUBA8', 'KLHL24', 'EYA4', '-', 'HPS1', 'MGME1', 'HEY2', 'MAT2A', 'AFF3', 'KRT1', 'TARDBP', 'TNXB', 'MKS1', 'CENATAC', 'NFASC', 'EVC2', 'EVC', 'WNT7B', 'RANBP2', 'MYL9', 'CEP57', 'STRADA', 'CNBP', 'MLH1', 'OPTN', 'UBTF', 'INPP5K', 'LEPR', 'ARL13B', 'CEP290', 'BUB1', 'WDR11', 'P4HTM', 'PAH', 'DTNA', 'BCO1', 'ELN', 'TECRL', 'IL17RA', 'CTDP1', 'PFN1', 'AEBP1', 'GATA4', 'PGAM2', 'PROK2', 'MYH8', 'UNG', 'PROKR2', 'SLC1A3', 'AIP', 'NSD2', 'VPS37A', 'PCNT', 'CRTAP', 'LEP', 'PAM16', 'TBCE', 'KRT5', 'RAD54L', 'IKBKG', 'MITF', 'ITPA', 'UBE3C', 'PSAT1', 'SLC44A1', 'SOX3', 'MLH3', 'TMEM43', 'POLR3H', 'KRT14', 'NFIA', 'BVES', 'MYOF', 'GYS1', 'TBX6', 'TMC1', 'BFSP1', 'ACO2', 'ANG', 'RBP4', 'RAB33B', 'NUP133', 'ATXN7', 'KCNQ1OT1', 'PDE3A', 'CTNNB1', 'CHIC2', 'LPP', 'SH3GL1', 'CEBPA', 'MLLT10', 'PICALM', 'TBX4', 'SYNE2', 'C2', 'TBK1', 'EPM2A', 'NDN', 'TBXT', 'GRB10', 'COCH', 'TRMT10A', 'CFAP43', 'EGR2', 'CCDC8', 'OTUD6B', 'ATP6V1E1', 'DYNC2H1', 'SLC1A1', 'KCNA4', 'ARHGAP26', 'PIGF', 'DUSP6', 'SPRY4', 'FGF17', 'SLC38A3', 'SEC24D', 'SHQ1', 'PGAP1', 'MYH2', 'GPC3', 'SULT2B1', 'BAG3', 'RECQL4', 'FLT3', 'FOXE3', 'PLCD1', 'SLC6A5', 'RYR3', 'MAP2K2', 'PDE10A', 'NDUFB11', 'PNPLA1', 'ABAT', 'PCBD1', 'SDR9C7', 'ARSK', 'ADCY5', 'GABRA2', 'SQSTM1', 'QDPR', 'CLCF1', 'B3GAT3', 'KRT6A', 'MDFIC', 'CLCN5', 'FHL1', 'CHCHD10', 'PLEC', 'PPM1K', 'SERPINH1', 'EFEMP2', 'TK2', 'HSPG2', 'MYL1', 'LAMTOR2', 'SLC22A18', 'ANXA11', 'RAD50', 'DCAF17', 'PRDM6', 'TRU-TCA1-1', 'FOXE1', 'IL31RA', 'MMP23B', 'UBE4B', 'LUZP1', 'CASZ1', 'KCNAB2', 'PDPN', 'PRKCZ', 'PTEN', 'ALDH5A1', 'FBLN5', 'DST', 'LINGO1', 'KIAA0586', 'GNRH1', 'DLX3', 'NFATC2', 'GSX2', 'PTS', 'MYOZ2', 'MTRFR', 'DSP', 'IL17RC', 'MTHFS', 'FBN1', 'MED23', 'STAMBP', 'SPG7', 'COPA', 'HPCA', 'BLOC1S5', 'IGF2', 'SLC35D1', 'MYO6', 'FXN', 'TUBB8', 'GABRA3', 'PSMD12', 'LIFR', 'GFAP', 'GJB3', 'MOG', 'USP7', 'CD320', 'HEPACAM', 'ANGPT2', 'PIBF1', 'TBX5', 'PLCB1', 'KY', 'DALRD3', 'HAX1', 'RNPC3', 'BMPER', 'ARSA', 'CCNF', 'SLC12A2', 'RXYLT1', 'GALNT3', 'CYP4F22', 'CPLX1', 'MARS2', 'TREM2', 'SLC6A3', 'TRAF3IP2', 'CCDC78', 'TRAPPC4', 'LDB3', 'PLAA', 'CLCN1', 'ERBB4', 'CIT', 'TLK2', 'CLN3', 'HTRA1', 'MAFA', 'PTPRQ', 'CD4', 'INAVA', 'RAD54B', 'POPDC3', 'ARHGEF10', 'ABCA2', 'FBXW11', 'MEGF10', 'MRPS25', 'CENPJ', 'MCOLN1', 'ANO5', 'LTBP2', 'MT-ATP8', 'MYH7', 'LDHD', 'CHD3', 'GRIA1', 'RNASEH1', 'DSE', 'GABRD', 'RAB23', 'GIGYF2', 'ACADSB', 'SPTBN1', 'STIL', 'BRAF', 'CHCHD2', 'LTBP3', 'EXOSC9', 'ATP6V0A2', 'TACR3', 'SLC30A2', 'HS6ST1', 'MECP2', 'HSD3B2', 'CCDC88A', 'NSRP1', 'ATP11A', 'ATP13A3', 'MTOR', 'NEK9', 'CERS3', 'MYMK', 'LAMB2', 'EGF', 'AGTR1', 'AGT', 'ALDH18A1', 'TRIP4', 'DHDDS', 'MAGEL2', 'KLHL7', 'PTDSS1', 'DLX5', 'TSPYL1', 'SH3KBP1', 'D2HGDH', 'PMPCA', 'TOR1AIP1', 'UNC45B', 'SPRED1', 'SNX14', 'LAMA2', 'GLMN', 'CFAP52', 'SPINT2', 'PABPN1', 'TRPM6', 'ASCL1', 'POMGNT2', 'FLNA', 'PPP1CB', 'POLR1D', 'DNMT3A', 'TTPA', 'MPLKIP', 'GPT2', 'B3GALT6', 'PLCH1', 'TCF12', 'QRICH1', 'HLA-DPB1', 'HPSE2', 'CHST14', 'NIPAL4', 'NEK10', 'UVSSA', 'CACNA1C', 'FXYD2', 'GYG1', 'MNX1', 'POLR3F', 'FAM20C', 'FLCN', 'COA3', 'PRX', 'KRT17', 'COL17A1', 'PRODH', 'NUAK2', 'PGK1', 'FRG1', 'CPA6', 'HHAT', 'KNSTRN', 'PIGY', 'PPIB', 'GLRA1', 'AGXT2', 'TRMT1', 'C1S', 'RHOH', 'COL4A2', 'SH3TC2', 'SLC35B2', 'COL6A1', 'PRDX3', 'TBR1', 'PHYKPL', 'OGDHL', 'IVNS1ABP', 'VPS35', 'COL4A1', 'POLR1B', 'CDH23', 'COL4A4', 'ALX4', 'TRAPPC2L', 'NUP62', 'LMAN2L', 'SFTPA1', 'CFAP410', 'MIEF2', 'EPB41L1', 'ZFHX2', 'XYLT1', 'CAPN3', 'KBTBD13', 'PNKP', 'SGCG', 'COLQ', 'REPS1', 'HGSNAT', 'ARSL', 'CRYAB', 'NAA10', 'TUBB6', 'CSF1R', 'SON', 'PPP2R3C', 'SORD', 'ADCY6', 'KMT2C', 'VAPB', 'BUB3', 'CNP', 'SLC4A11', 'NELFA', 'IGF1R', 'FCGR3A', 'WDR26', 'INTU', 'TONSL', 'VCP', 'CRELD1', 'WIPI2', 'TBCK', 'ZMPSTE24', 'XPNPEP3', 'NODAL', 'HNRNPK', 'IFT43', 'SIM1', 'COA5', 'SARS1', 'PIGL', 'CACNA2D1', 'ERCC3', 'GNAI1', 'COA7', 'ASCC1', 'CLCN6', 'MGP', 'RELA', 'AHDC1', 'EIF4G1', 'ERGIC1', 'SNAP29', 'IGSF3', 'KLF6', 'MT-TL2', 'MCPH1', 'SOX10', 'SZT2', 'TNNT1', 'PUS3', 'SGCA', 'CAMLG', 'KIF22', 'EXOC6B', 'CDK8', 'VANGL2', 'OTX2', 'CTNNA3', 'NUS1', 'ACY1', 'SEMA4A', 'EIF2AK4', 'TYK2', 'VPS35L', 'NIPBL', 'HTT', 'PHC1', 'RSPO4', 'PKP1', 'ISG15', 'FIG4', 'ATXN3', 'ANKLE2', 'GNAQ', 'ASNS', 'GJB4', 'PAK1', 'SLC28A1', 'FGF8', 'ERCC2', 'IRF9', 'YIF1B', 'SLC22A12', 'ZNHIT3', 'CDT1', 'NAPB', 'NEPRO', 'RSPRY1', 'PLXNA1', 'SYNJ1', 'DLL3', 'CYFIP2', 'SLC25A12', 'ATP2B2', 'NF1', 'SOX17', 'BAX', 'ANKRD11', 'SVIL', 'DNAAF4', 'PSEN2', 'FZD4', 'SELENON', 'SPRY2', 'RNF170', 'CDON', 'UMOD', 'TBX21', 'TGDS', 'ALOXE3', 'AARS1', 'NECAP1', 'HAAO', 'TRAK1', 'MRTFA', 'DHTKD1', 'ZNRF3', 'AMER1', 'CNKSR2', 'WDR73', 'NADSYN1', 'CASQ1', 'B4GAT1', 'SLC41A1', 'MESP2', 'CLDN10', 'MATN3', 'BLOC1S3', 'MIR140', 'ROBO1', 'CTH', 'GLRA2', 'GNB5', 'PANK2', 'PUS7', 'RAB3GAP1', 'SLC10A7', 'SEMA3A', 'SLC25A46', 'HOXD10', 'HECW2', 'TANC2', 'KCNE5', 'DHPS', 'VPS13B', 'MEG3', 'DLK1', 'RTL1', 'MECR', 'CDC45', 'CDC6', 'FTL', 'OCA2', 'GABRA5', 'CHKB', 'AIMP2', 'SLC16A12', 'ALOX12B', 'SEC23A', 'GNAI2', 'LRRK2', 'PDGFB', 'SH3PXD2B', 'SMAD9', 'CDK4', 'LRP4', 'KCNA2', 'CUL7', 'MBD4', 'CEP135', 'TET3', 'GABRB2', 'FKTN', 'FRMD5', 'COL9A3', 'SLC6A8', 'GRIN2D', 'RIMS2', 'IGFALS', 'NR0B1', 'SLITRK2', 'ARV1', 'FAM149B1', 'FUS', 'PLCG2', 'HR', 'MEOX1', 'IARS2', 'SDHAF1', 'ANTXR1', 'EMILIN1', 'PACS1', 'HCRT', 'RAC3', 'SCN4A', 'KIF1A', 'EXOSC5', 'KDSR', 'PISD', 'CYP26C1', 'PPM1D', 'SLC6A2', 'SCGB3A2', 'IL13', 'CCL11', 'HLA-G', 'MUC7', 'ALOX5', 'CCT5', 'NUTM2B-AS1', 'RELN', 'KCNQ5', 'DPYD', 'SCN1B', 'WDR62', 'GSN', 'FDXR', 'WDFY3', 'METTL5', 'SUPT16H', 'PNPLA6', 'B9D2', 'KCNJ8', 'MASP2', 'TTN', 'ATP2A1', 'DEAF1', 'GLI2', 'TPM3', 'DLL1', 'CCN2', 'CCR6', 'ORC4', 'TMC6', 'FOXC2', 'ACTL6B', 'DNAJB6', 'MOCOS', 'AGBL1', 'HEPHL1', 'CNTNAP2', 'UFC1', 'HNRNPDL', 'WASHC5', 'ANO10', 'IFT52', 'TGM1', 'CENPE', 'SLC6A6', 'DMXL2', 'TGIF1', 'WNT4', 'SLC33A1', 'AFF4', 'DSTYK', 'DNA2', 'B3GLCT', 'CAMK2B', 'OSMR', 'LRIG2', 'LTBP1', 'MIB1', 'VAC14', 'AIFM1', 'MTMR14', 'PPP3CA', 'DCAF8', 'ADH1C', 'SNORA31', 'YWHAG', 'PIGQ', 'SERPINF1', 'CANT1', 'H1-4', 'FOXJ1', 'IFNAR2', 'ACAN', 'COL2A1', 'CD8A', 'RUNX2', 'OBSL1', 'IRF1', 'GSC', 'ADARB1', 'B3GALNT2', 'NOVA2', 'OPA1', 'CEP63', 'POLR1A', 'ADGRE2', 'TH', 'RNU12', 'GOSR2', 'CELF2', 'CHKA', 'ATP5PO', 'PRKG2', 'RERE', 'BARD1', 'KCND3', 'MDM2', 'TMEM106B', 'CDK6', 'AQP4', 'PAPSS2', 'POGLUT1', 'IFNGR2', 'PPP1R15B', 'LARGE1', 'WNT3A', 'KCNJ2', 'ODAD4', 'C8A', 'MFF', 'ORC1', 'RGR', 'H4C9', 'TRAIP', 'HOXD13', 'SPOP', 'TPR', 'EHMT1', 'TRAPPC12', 'DGCR2', 'ESS2', 'DGCR8', 'DGCR6', 'COL10A1', 'ZNF148', 'ZC3H14', 'CYP26B1', 'DDX6', 'SGCB', 'KCNB1', 'GPX4', 'ODAD1', 'CFD', 'IL10RB', 'PSEN1', 'TRAF7', 'SLC12A6', 'GMNN', 'RBBP8', 'PMFBP1', 'TASP1', 'PANX1', 'KRT16', 'ERCC1', 'NEK1', 'FCN3', 'PRKDC', 'HSD17B3', 'GIPC1', 'RPIA', 'C8B', 'SLC26A2', 'DYRK1A', 'RSPO1', 'KCNQ2', 'UBE3B', 'TRIM71', 'ACTG1', 'SASS6', 'SNCAIP', 'SPEN', 'DARS2', 'CRY1', 'ADRB1', 'TIMELESS', 'POMK', 'CPE', 'NCSTN', 'RIPOR2', 'DRD5', 'TSC1', 'CIBAR1', 'TSC2', 'TIAM1', 'COL4A6', 'HOXA1', 'IL7', 'PYROXD1', 'PTPN23', 'NUP188', 'SYNE1', 'DYNLT2B', 'NME5', 'KDM3B', 'FOLR1', 'RNF113A', 'RAD21', 'MT-ND4L', 'MSTN', 'CRADD', 'CACNA1I', 'ACTA1', 'C6', 'TRAPPC14', 'ADAT3', 'SMARCC2', 'TTC12', 'FGF12', 'NRCAM', 'KIAA0753', 'GJA5', 'DNAAF2', 'IGHG2', 'SP6', 'TOGARAM1', 'ASPN', 'LMX1B', 'GLS', 'SETD2', 'MMP9', 'MAP3K20', 'PRPS1', 'KMT2D', 'NTRK2', 'LFNG', 'HCFC1', 'MTMR2', 'HOXA2', 'PPP1R21', 'TBC1D23', 'ACE', 'CAMSAP1', 'MAPK8IP3', 'SCN3A', 'POLR3A', 'ADGRL1', 'MDH1', 'DBR1', 'BRF1', 'CNGA1', 'CDK19', 'SIX3', 'ALKBH8', 'STAC3', 'GLUL', 'RIPPLY2', 'ZFHX4', 'EPS8L2', 'WBP2', 'POU4F3', 'TDRD7', 'SERPINB6', 'LMX1A', 'KHDC3L', 'UROC1', 'ARR3', 'SPNS2', 'OTOA', 'GRAP', 'GAB1', 'HOMER2', 'TBL1Y', 'PJVK', 'SLC26A5', 'GJA3', 'ING1', 'TNFRSF10B', 'SIPA1L3', 'GCNT2', 'CASP14', 'GSDME', 'ADCY1', 'HGF', 'C3orf52', 'TLE6', 'MST1R', 'A2ML1', 'ANXA5', 'TCTN1', 'ZIC2', 'MFN2', 'RILPL1', 'KAT8', 'RNF220', 'HOGA1', 'IRF7', 'ITGA6', 'GDAP1', 'NALCN', 'SYT2', 'ATP6V1A', 'CYP11B1', 'GHRHR', 'POLR1C', 'GAS2L2', 'HAND2', 'TAF1A', 'FHL2', 'TMPO', 'ANKRD1', 'CAP2', 'EXTL3', 'APP', 'NDNF', 'MYOCD', 'GCH1', 'SUN5', 'SLC13A5', 'TMEM107', 'DACT1', 'CHMP2B', 'GUCY2D', 'ORC6', 'MYBPC1', 'SLC5A6', 'CHRND', 'HEXA', 'PITX3', 'KCNK18', 'SMARCC1', 'KDR', 'JPH3', 'SPEF2', 'ATP2B1', 'GZF1', 'GAS8', 'C7', 'PLCB3', 'CLDN9', 'AP3B2', 'TRIM36', 'OFD1', 'PER3', 'AOPEP', 'PIGP', 'DRD4', 'EED', 'FGF20', 'ANK3', 'SOHLH1', 'TOPORS', 'EXT1', 'KLHL40', 'ODAPH', 'SCP2', 'WDR72', 'SLC25A32', 'ODAD2', 'KATNB1', 'CDH15', 'CRYBB1', 'ARNT2', 'FZR1', 'MSTO1', 'FUZ', 'WASF1', 'ACBD5', 'CHRNG', 'NFIX', 'PYCR2', 'CCNO', 'KIF2A', 'CNOT2', 'EDN1', 'SIK1', 'GPC4', 'MPZ', 'HES7', 'PTHLH', 'RDH5', 'SLC6A19', 'KLHL41', 'CCDC103', 'MYH14', 'RAI1', 'JAG2', 'VANGL1', 'GPRC5B', 'SOX5', 'KCNN3', 'TUSC3', 'PIKFYVE', 'MSX2', 'POGZ', 'AMT', 'CAPN5', 'MAP3K7', 'TNRC6A', 'TCOF1', 'JUP', 'CTSB', 'GFPT1', 'SASH1', 'DNAH5', 'HRAS', 'ERCC5', 'ALS2', 'CHST11', 'PRKD1', 'STK36', 'DNAJB13', 'DNAH9', 'GPR68', 'FLII', 'AMTN', 'PRUNE1', 'IMPA1', 'DCPS', 'CCDC141', 'RNF135', 'ATIC', 'C1QA', 'COLGALT1', 'LMNB1', 'BET1', 'TAT', 'SRRM2', 'NME8', 'PDE6G', 'CPLANE1', 'ANGPTL6', 'TGFBR3', 'TAF2', 'RSPH1', 'ASH1L', 'KANSL1', 'ROM1', 'RBP3', 'NEMF', 'TUBB4A', 'GRHL2', 'PER2', 'GFRA1', 'BCL11B', 'FLNB', 'NTHL1', 'LRRC56', 'NLGN4X', 'LMOD3', 'GDF3', 'LITAF', 'TSPOAP1', 'RAPGEF2', 'RAC1', 'CCDC88C', 'GBF1', 'COL11A2', 'BIN1', 'ASPRV1', 'ZEB2', 'DAG1', 'KCNH1', 'PIGV', 'VPS41', 'NDE1', 'TSEN34', 'SPTAN1', 'NQO2', 'RB1CC1', 'XRCC3', 'HMMR', 'PHB1', 'CFAP300', 'L2HGDH', 'PI4KA', 'MXI1', 'COX6A1', 'MCIDAS', 'DNAI2', 'MYH3', 'RTTN', 'RRP7A', 'DCX', 'DDHD2', 'CRYAA', 'SALL1', 'PADI6', 'ATP2C1', 'C9', 'TMIE', 'OSBPL2', 'PPIP5K2', 'CRYM', 'SLC17A8', 'PLS1', 'CLRN2', 'TMEM132E', 'CABP2', 'EPHA10', 'SCD5', 'PRIMPOL', 'MLC1', 'TRPA1', 'FGF5', 'MYO3A', 'UBIAD1', 'TOP6BL', 'EPS8', 'CPSF1', 'PRICKLE3', 'DNAAF1', 'ZNF644', 'SLC39A5', 'BDP1', 'DSG3', 'MINAR2', 'S1PR2', 'ROBO2', 'ACTL9', 'ZP2', 'PLCZ1', 'ACR', 'MARVELD2', 'RDX', 'ASTL', 'NLRP2', 'NLRP5', 'MYO15A', 'ZP3', 'TRIOBP', 'TMEM216', 'RNASEL', 'RSPH4A', 'DPYSL5', 'TPM2', 'RAB5IF', 'KIAA0825', 'CACNA1B', 'FOXD3', 'FGD4', 'ZNF408', 'ANKRD17', 'FLG', 'PCNA', 'FAM83H', 'SCYL2', 'LGR4', 'VPS13D', 'PIP5K1C', 'RSPH9', 'CAMK2A', 'EIF2B1', 'SLC1A2', 'NIN', 'GNB1', 'CYLD', 'GRHPR', 'NECTIN4', 'SETD1A', 'LARP7', 'IFNAR1', 'CACNG2', 'PTGER2', 'YY1', 'EDC3', 'ACTB', 'SNRPN', 'TLR2', 'ITGA8', 'SLC25A22', 'GJC2', 'SPAG1', 'CCDC65', 'DNAAF11', 'CFAP74', 'ZNF711', 'KMT2B', 'DNAI1', 'BRPF1', 'IQCE', 'TRIM2', 'RDH12', 'GPSM2', 'SMC3', 'SYT14', 'PDE8B', 'CCND2', 'H6PD', 'PDE6D', 'TRAPPC10', 'FOXP2', 'EMD', 'TPRN', 'TSHZ1', 'DKK1', 'RSPH3', 'COL12A1', 'PIK3R2', 'TELO2', 'PCLO', 'IRF3', 'KIRREL1', 'DNAAF3', 'IHH', 'NRROS', 'BICRA', 'TBX3', 'DDX3X', 'NHLRC1', 'AMHR2', 'AMH', 'SNRPB', 'CENPF', 'CSGALNACT1', 'DCC', 'CEP250', 'KRT3', 'FIBP', 'TPRKB', 'SMARCA4', 'GNB4', 'AUTS2', 'DNM1', 'DDB2', 'MMP20', 'DNAH1', 'TP53RK', 'TCF20', 'MAD1L1', 'CDK5RAP2', 'CCDC40', 'SLC26A1', 'ADD3', 'MCC', 'PTPN12', 'DLC1', 'AURKA', 'PLA2G2A', 'TPH2', 'RELT', 'RP1L1', 'ATR', 'MYF5', 'CLN5', 'RAPSN', 'CDSN', 'TM4SF20', 'GATA3', 'RP1', 'SMO', 'PINK1', 'SNCB', 'UBA5', 'SLC13A3', 'PIGW', 'IFT81', 'DHX16', 'NR2E3', 'OXR1', 'CCL2', 'TMEM218', 'BRAT1', 'LDHB', 'DNAH11', 'ZBTB42', 'TBCD', 'CHRNB1', 'ZNF750', 'GRN', 'PRCC', '-', 'PRRX1', 'GTPBP2', 'TECPR2', 'CHST6', 'GAN', 'NLGN1', 'SLC52A2', 'SPEG', 'CHRNA1', 'FMN2', 'LAMA1', 'CLCN3', 'RPGRIP1', 'LIPN', 'GPC6', 'POP1', 'PHIP', 'PLA2G5', 'LOXHD1', 'BFSP2', 'GRXCR1', 'KCNQ4', 'LHFPL5', 'CLDN14', 'MSRB3', 'PDE1C', 'LIM2', 'ATOH1', 'MEI1', 'NLRP7', 'HARS2', 'OTOGL', 'TMPRSS3', 'ILDR1', 'ESRP1', 'CSNK1D', 'INSL3', 'GREM2', 'CHMP4B', 'GLIS2', 'KPNA7', 'MOS', 'FYCO1', 'SPATA16', 'ZFP36L2', 'PRY2', 'CDY2A', 'HSFY1', 'PRY', 'XKRY', 'BPY2', 'KDM5D', 'RPS4Y2', 'VCY', 'CDY1', 'SLC26A8', 'DPY19L2', 'CCDC62', 'GGN', 'TSGA10', 'ZPBP', 'MPZL2', 'ZP1', 'CDC20', 'STUB1', 'SYN1', 'WARS1', 'ARL3', 'ZNF292', 'POLA1', 'HCN1', 'FOXG1', 'UGP2', 'DNAAF5', 'UBE3A', 'UBE4A', 'TMEM53', 'ODAD3', 'TMEM237', 'NR5A1', 'VPS13C', 'TCTN2', 'RBM28', 'CFL2', 'DLG4', 'GPR88', 'CEP120', 'CLTC', 'GRIN1', 'ROR1', 'PIGO', 'AMBN', 'OXGR1', 'GAS1', 'DISP1', 'FOXH1', 'CRIPTO', 'SLC6A4', 'SNCA', 'PIK3CA', 'HSPB8', 'WAC', 'UBR7', 'PLCB4', 'HCN2', 'WNT3', 'NEUROD2', 'REEP2', 'B9D1', 'SMN2', 'AKT3', 'SATB1', 'EP300', 'CLPP', 'AP5Z1', 'STAG2', 'PPP2R1A', 'INTS8', 'CFAP298', 'EIF2B5', 'TRAPPC6B', 'SLC16A2', 'MSH3', 'KCNC2', 'OTOG', 'EML1', 'HYAL1', 'GDF6', 'DRC1', 'EXOC2', 'GON7', 'PLA2G6', 'MYOD1', 'SHH', 'ASPM', 'APC', 'FLVCR1', 'SPG11', 'FRA10AC1', 'PRDM12', 'SHANK3', 'CTSC', 'HYDIN', 'KCNMA1', 'CDH2', 'ODC1', 'TECR', 'DAO', 'GLT8D1', 'PON2', 'PON3', 'PON1', 'PPARGC1A', 'EPHA4', 'UNC13A', 'ANAPC7', 'SLC25A24', 'WWOX', 'TRAPPC9', 'APOL2', 'DISC2', 'RTN4R', 'DAOA', 'APOL4', 'CHI3L1', 'SYN2', 'KIF5A', 'ZBTB18', 'OTOF', 'KNL1', 'XRCC1', 'MED13', 'SEPSECS', 'GNAO1', 'GLDN', 'MCTP2', 'ATP1A2', 'MACF1', 'AMMECR1', 'CHD4', 'SIGMAR1', 'CDK10', 'ATAD1', 'AQP5', 'ATG7', 'GLRB', 'MED27', 'HMCN1', 'GDF9', 'PRMT7', 'XPC', 'GRM1', 'SLITRK1', 'RAX2', 'CREBBP', 'TAF15', 'PLEKHG2', 'PARK7', 'PKDCC', 'SLC39A14', 'LRP12', 'TRPC3', 'NOTCH3', 'SRD5A2', 'KCNK9', 'C1R', 'TTBK2', 'CLN6', 'TCTN3', 'DYSF', 'OPCML', 'PPP2R1B', 'MAP3K8', 'SRGAP1', 'TNIK', 'PPT1', 'DNAJC5', 'ESRRB', 'ACKR3', 'CCDC50', 'DIP2B', 'LRPAP1', 'PNKD', 'MMP19', 'GRXCR2', 'MIR96', 'EPHA2', 'ABCC1', 'SOX2', 'TEAD1', 'LRTOMT', 'ASB10', 'SLC44A4', 'CLIC5', 'PI4KB', 'P2RX2', 'TNC', 'CD164', 'LOXL3', 'MCM2', 'AKR1C2', 'AKR1C4', 'TUBA3D', 'ADAM10', 'SERPINB8', 'SLITRK6', 'KRT6C', 'BTG4', 'SELENBP1', 'HSF2BP', 'CRYGB', 'MIP', 'VIM', 'AVIL', 'TMEM151A', 'SYCP2', 'BRDT', 'AURKC', 'SPINK2', 'SYNE4', 'SLC24A4', 'EIF2B3', 'PAK2', 'GRM7', 'PRKN', 'CCDC39', 'GDI1', 'MEIS2', 'MME', 'CHD8', 'FAT2', 'MAST1', 'PTCH2', 'FEZF1', 'CAPN15', 'SBF1', 'HERC1', 'TRIO', 'SCUBE3', 'CRB1', 'PGAP3', 'SSBP1', 'EFTUD2', 'CTSD', 'IQSEC1', 'CCNQ', 'CRPPA', 'ZBTB11', 'ADAMTSL4', 'CHMP1A', 'MED11', 'RBM12', 'CHUK', 'GRIN2B', 'KMT2A', 'ATP1A3', 'ZMYND10', 'KCNA1', 'SEMA3E', 'KCNJ6', 'SMOC1', 'SLC25A1', 'CC2D1A', 'LAMC3', 'KIF5C', 'COL9A2', 'PSMB1', 'CUX1', 'ZNF423', 'EBP', 'RGS9', 'MAB21L2', 'PAFAH1B1', 'KLK4', 'DPH1', 'SIN3A', 'GLDC', 'C1QC', 'COMP', 'ACP4', 'PPP2CA', 'ADAMTS17', 'CCDC22', 'PRPF3', 'KIDINS220', 'AP1G1', 'SERPINI1', 'LRRC32', 'MYT1L', 'AFG3L2', 'NR4A2', 'ZFYVE27', 'ZMIZ1', 'GDAP2', 'HNRNPH2', 'DNAL4', 'GAMT', 'POU4F1', 'WDR37', 'MFSD8', 'RAB7A', 'XPA', 'HFM1', 'PRDM13', 'POFUT1', 'VAX1', 'MYOT', 'BMP4', 'ISCA2', 'ZNF141', 'TRPV4', 'TUBB2A', 'FLVCR2', 'MFSD2A', 'C12orf57', 'PLD3', 'KCNT1', 'AMFR', 'CSNK2B', 'PUF60', 'ATL3', 'RPS6KA3', 'FXR1', 'ENTPD1', 'TSEN15', 'MCM3AP', 'NKX2-1', 'COLEC10', 'EDAR', 'AHSG', 'KITLG', 'TMX2', 'MYMX', 'YRDC', 'FGFR1', 'ALG14', 'SRCAP', 'CEP41', 'GREB1L', 'GIPC3', 'RORA', 'EXPH5', 'KAT6B', 'THOC1', 'MVD', 'MIR204', 'DIABLO', 'PANK4', 'MAPKAPK3', 'TCHH', 'HSF4', 'CRYBA1', 'CDC14A', 'CRYGS', 'SEPTIN12', 'CEP112', 'MAFB', 'TEKT3', 'CFAP70', 'DNAH2', 'M1AP', 'IQCN', 'KCNU1', 'REC114', 'CATSPER1', 'ACTL7A', 'DNALI1', 'CFAP44', 'CFAP69', 'MASP1', 'FBXO28', 'BICD2', 'EIF4A3', 'KIF26A', 'GCNA', 'NOTCH2NLC', 'CTSF', 'POF1B', 'HDC', 'NEK2', 'ERLIN2', 'VSX2', 'SLC6A9', 'NDST1', 'DDR2', 'WLS', 'PIEZO2', 'PERP', 'FAM50A', 'EEF1A2', 'AGO1', 'HNRNPR', 'CFHR5', 'CLN8', 'NARS1', 'LMBR1', 'TSEN2', 'DPH5', 'GABRB1', 'ATP5MC3', 'MEGF8', 'STEEP1', 'BLTP1', 'NEFL', 'WBP11', 'SLC19A3', 'HTR2A', 'CRBN', 'KDM5B', 'PSENEN', 'AR', 'KLF13', 'POMT2', 'ARL6IP1', 'ADAM9', 'GRHL3', 'KRT12', 'SLC35A3', 'FOXI1', 'TRIM8', 'EIF2B2', 'ASXL3', 'TTI2', 'CLDN19', 'ZSWIM6', 'KLC2', 'RAB11B', 'NCDN', 'COPB1', 'GJA8', 'NSDHL', 'PRKCG', 'UBQLN2', 'KCNJ3', 'PMP2', 'DIAPH3', 'GAL', 'SETBP1', 'COL9A1', 'CWC27', 'PCARE', 'AHR', 'FAM161A', 'PDE6A', 'GUCA1B', 'CNGB1', 'SNRNP200', 'FSCN2', 'NTN1', 'UCHL1', 'PRKRA', 'APC2', 'TTC19', 'PRKAR1B', 'THOC2', 'SIX6', 'TAP1', 'TAP2', 'TAPBP', 'DDHD1', 'KATNIP', 'EXOSC1', 'MAPKBP1', 'TMEM163', 'PCYT1A', 'ZNF462', 'FLG2', 'CTU2', 'PGAP2', 'ATP6V1B2', 'DDX11', 'RIC1', 'KRT9', 'ELOVL5', 'FAM13A', 'KDM1A', 'MAN2C1', 'TP73', 'TNRC6B', 'TSEN54', 'FAR1', 'RBL2', 'BAP1', 'BPNT2', 'DNAH7', 'HOXB1', 'MARK3', 'DPH2', 'CRYBA2', 'MED12L', 'GNAT1', 'DARS1', 'FGF9', 'CLEC3B', 'FRMD7', 'ARL2', 'MYF6', 'NONO', 'NOBOX', 'CFAP65', 'AKAP3', 'CFAP58', 'SPACA1', 'QRICH2', 'KAT6A', 'CEP104', 'CLP1', 'MEF2C', 'ARHGEF18', 'KCNK4', 'WNT7A', 'MLPH', 'CNOT3', 'ITGB6', 'FKRP', 'KANK2', 'SLC18A2', 'SMOC2', 'UNC119', 'CEP55', 'ARMC9', 'FMR1', 'CHAMP1', 'POLR3GL', 'PRNP', 'PRCD', 'CERKL', 'BHLHA9', 'SLC2A3', 'AKT1', 'FITM2', 'KCNC1', 'TBC1D7', 'ATXN2', 'SLC27A4', 'TACO1', 'LAMB1', 'IGF2R', 'MN1', 'CNTNAP1', 'CHRNE', 'MYO18B', 'AAGAB', 'IQSEC2', 'POMT1', 'NUP54', 'IRF2BPL', 'ARFGEF1', 'GNB3', 'HMGB3', 'TBC1D24', 'NEB', 'ZFPM2', 'TAF8', 'PTCH1', 'TUBG1', 'SEMA6B', 'AIPL1', 'CLCC1', 'GM2A', 'RGS9BP', 'FOXI3', 'FBXL3', 'HYCC1', 'CKAP2L', 'MESD', 'KDM5C', 'PDE6B', 'FERRY3', 'COL27A1', 'MAPK1', 'GABBR2', 'MCM8', 'EYS', 'IDH3B', 'CD151', 'CYP2U1', 'THG1L', 'ADNP', 'TMEM94', 'PTPA', 'ADSS1', 'DNMT1', 'LHCGR', 'TDO2', 'EIF2B4', 'ITM2B', 'ZEB1', 'ZFHX3', 'MED25', 'SUZ12', 'SEMA5A', 'TPP1', 'GRIP1', 'CRX', 'ZNF142', 'TENM4', 'DAB1', 'SET', 'PCDH12', 'DLG3', 'DICER1', 'RP9', 'TUBB', 'DRD3', 'HKDC1', 'TUFT1', 'SLC17A9', 'FZD6', 'DNMBP', 'FDPS', 'ELP4', 'HRURF', 'ADGRG2', 'CTNNA1', 'PATL2', 'VWA3B', 'ERAL1', 'TTC29', 'CFAP251', 'TTC21A', 'DNAH8', 'AK7', 'DSC3', 'GDF11', 'NOL3', 'GNAL', 'DLX4', 'SIAH1', 'POLH', 'SNORD118', 'KIAA1549', 'ATG5', 'VWA1', 'KIF7', 'ATCAY', 'NSD1', 'KCNJ13', 'GJA1', 'EIF2AK1', 'EIF2AK2', 'COL25A1', 'SOX9', 'TNNT3', 'CDHR1', 'AGBL5', 'SLC7A14', 'PRPF6', 'ZNF513', 'RNASET2', 'TMEM231', 'FAM20A', 'PAX7', 'PAICS', 'DNAJB2', 'DLEC1', 'FGFR2', 'SLC7A6OS', 'IFT57', 'ERLIN1', 'EXOC7', 'ROBO3', 'LRMDA', 'ZNF407', 'COQ6', 'SATB2', 'COL6A2', 'SPG21', 'ATXN8', 'POLR3B', 'ATXN8OS', 'GEMIN5', 'ELP2', 'DNAJC12', 'MYO5A', 'CDK13', 'PHKA1', 'MBOAT7', 'BMPR1B', 'CACNA1E', 'MINPP1', 'PPP2R5D', 'TRPS1', 'GMPPA', 'HNRNPU', 'ABHD16A', 'BNC2', 'MAK', 'PRPF4', 'MERTK', 'DHX38', 'NDRG1', 'UQCRC1', 'FGF13', 'NANS', 'UGDH', 'TMC8', 'SMG9', 'NANOS1', 'RNF212', 'SYCP3', 'TEX14', 'PRICKLE1', 'TMEM63A', 'CCDC174', 'PITX1', 'H4C5', 'AHI1', 'PCYT2', 'RSRC1', 'BEST1', 'SLC5A7', 'PRPF31', 'TXNL4A', 'CRYGD', 'GPNMB', 'ADAMTS18', 'VWA8', 'MIR184', 'PMVK', 'WEE2', 'DAZ3', 'DAZ1', 'DDX3Y', 'RBMY1A1', 'DAZ2', 'USP9Y', 'ARMC2', 'ATP1A1', 'DNAH17', 'SSX1', 'FSIP2', 'MAPT', 'TACSTD2', 'RBMX', 'COL11A1', 'TMCO1', 'CBX2', 'RCBTB1', 'CADM3', 'FBLN1', 'NLGN3', 'TGM5', 'POR', 'PDE4D', 'MAP3K1', 'LOXL1', 'KCNT2', 'REEP6', 'PDE6H', 'CLRN1', 'RNF6', 'MAST3', 'NDP', 'POMGNT1', 'RFX7', 'IMPG2', 'CEP152', 'EDEM3', 'CHD1', 'KIZ', 'KRT83', 'ATP8A2', 'VAMP2', 'DHODH', 'ADGRG1', 'DCN', 'DRAM2', 'OPN1SW', 'DCT', 'WNK3', 'SPART', 'ROGDI', 'AXIN1', 'DNAJC6', 'DOCK3', 'SHMT2', 'SEPTIN9', 'SLC1A4', 'FBXO7', 'NBEA', 'TUBGCP4', 'CACNA1A', 'IRF6', 'CNTN2', 'CA8', 'ADPRS', 'FREM1', 'IDH3A', 'HS2ST1', 'DNAJC13', 'LAMP2', 'SETD5', 'CAPN1', 'TERB2', 'MOV10L1', 'PNLDC1', 'TERB1', 'SPAG17', 'MEIOB', 'SF3B4', 'AP4E1', 'TMEM63C', 'GATAD2B', 'ACSL4', 'WDR45B', 'EXOC8', 'SLC9A6', 'HDAC9', 'HECTD4', 'SLC9A1', 'DHX30', 'DDX59', 'CHP1', 'SMG8', 'RAX', 'TRIM44', 'SMARCD1', 'CRYBA4', 'KERA', 'P3H2', 'CFAP91', 'FBXO11', 'COL8A2', 'CEP85L', 'METTL23', 'SAG', 'TAF4B', 'ARID2', 'DOK7', 'PSMC3', 'SPTLC1', 'HINT1', 'SOBP', 'RORB', 'PITX2', 'USP45', 'BEAN1', 'CTNNA2', 'TNNI2', 'HDAC8', 'ZMYND11', 'ARID1A', 'ZDHHC9', 'SHOC1', 'MAMLD1', 'SMPD4', 'USP9X', 'DONSON', 'SLMAP', 'RANGRF', 'REEP1', 'TUB', 'ARID1B', 'ABCA4', 'ACER3', 'KCNV2', 'KIF14', 'SALL4', 'RTN2', 'BRD4', 'COL6A3', 'HCCS', 'ECEL1', 'RSPO2', 'RD3', 'PMP22', 'GPR101', 'MUSK', 'COQ5', 'CHRNA7', 'NRL', 'PHACTR1', 'SACS', 'HYLS1', 'KLK11', 'VARS1', 'TMEM222', 'HSPB3', 'MRE11', 'THUMPD1', 'CNPY3', 'SLC45A1', 'HOXC13', 'IL11RA', 'SMARCA2', 'MBTPS2', 'FRMD4A', 'HDAC4', 'TWIST1', 'PRPF8', 'CTNND2', 'PGM2L1', 'ZFYVE26', 'STXBP1', 'WASHC4', 'SLURP1', 'KLHL10', 'PDHA2', 'RPL10L', 'TEX15', 'RTN4IP1', 'TMEM126A', 'TBP', 'MTSS2', 'SOX4', 'EMC10', 'RALGAPA1', 'PDCD6IP', 'EIF3F', 'STARD7', 'USP26', 'OAT', 'CERS1', 'POU3F3', 'PADI3', 'TGM3', 'LTV1', 'SALL2', 'SNRPE', 'CFAP61', 'ARX', 'EZH2', 'AXL', 'SRA1', 'OPA3', 'SCN8A', 'SETD1B', 'SPTBN2', 'H4C11', 'SPTLC2', 'ANOS1', 'FBXO38', 'ADAM22', 'KCNC3', 'ARL2BP', 'PROM1', 'SYT1', 'DSPP', 'FGFR3', 'TFAP2A', 'KDF1', 'WNT10B', 'PLK4', 'CST6', 'MPDZ', 'MAPRE2', 'HARS1', 'PITPNM3', 'SLC24A5', 'SRPX2', 'GRIA2', 'YEATS2', 'KCTD7', 'PUM1', 'C14orf39', 'KIF1C', 'TGM6', 'VAMP1', 'PDZD8', 'GNAI3', 'IMPDH1', 'SNAP25', 'GBA2', 'NR2F1', 'SLC52A3', 'TBC1D2B', 'ANO3', 'ZMYM2', 'NUP88', 'C2CD3', 'EEF2', 'SUFU', 'NFIB', 'TDRD9', 'ZIC1', 'CLDN11', 'LNPK', 'SYNGAP1', 'RPGR', 'BRWD1', 'ATN1', 'DYNC1I2', 'PDYN', 'PDXK', 'NOP56', 'CIB1', 'DHX37', 'NRIP1', 'PRSS56', 'TMEM98', 'KREMEN1', 'CRYBB2', 'CPAMD8', 'CAMK2G', 'QARS1', 'TTI1', 'TNR', 'THAP1', 'SAMD12', 'THOC6', 'SGCE', 'DPF2', 'KIFBP', 'COASY', 'NPTX1', 'ST3GAL3', 'DDB1', 'KPNA3', 'GJB2', 'PIGN', 'TUBGCP6', 'MYO7A', 'CTNND1', 'MYO9A', 'TRIP12', 'EFHC1', 'ZMYND15', 'CAMTA1', 'ITPR1', 'MYOC', 'CACNA2D2', 'FGD1', 'MFRP', 'TRRAP', 'VPS16', 'CFAP221', 'ROR2', 'SMARCE1', 'MARCHF6', 'TBX18', 'CT55', 'TMEM147', 'P2RY11', 'CTSH', 'CHAT', 'CDH1', 'UBE2A', 'TLCD3B', 'CDC42BPB', 'ABCA7', 'MBD5', 'GLI3', 'HSPB1', 'AAAS', 'RFC1', 'RUBCN', 'APCDD1', 'H3-3A', 'ADSL', 'SELENOI', 'VCAN', 'SLC38A8', 'PTPRF', 'COX7B', 'LRAT', 'LRP2', 'DUX4L1', 'DUX4', 'NTNG2', 'SVBP', 'CACNA1H', 'ADGRG6', 'ALDH3A2', 'PRDM8', 'INTS1', 'ATL1', 'CLTCL1', 'RAB28', 'TTLL5', 'ZNF365', 'TMEM138', 'GDF5', 'NF2', 'RPE65', 'CSTA', 'TULP1', 'HUWE1', 'SOX11', 'DHH', 'GRID2', 'TBX15', 'TBX22', 'USH2A', 'IMPG1', 'RP2', 'KCNQ3', 'GJB6', 'NT5C2', 'FBXO43', 'CCDC34', 'COLEC11', 'SF3B2', 'TSPEAR', 'RHO', 'RLBP1', 'AP4M1', 'LRP1', 'KCTD17', 'AGRN', 'CPT1C', 'NIPA1', 'KRT85', 'ATXN10', 'GMPPB', 'COL18A1', 'ADGRV1', 'UBAP1', 'SCN2A', 'AP4B1', 'MAN1B1', '-', 'PXDN', 'MICAL1', 'SERPINB7', 'CATSPER2', 'STRC', 'SPECC1L', 'CCNK', 'SMN1', 'CILK1', 'SMARCB1', 'RPL10', 'CHRNB2', 'EMC1', 'ELOVL4', 'RALA', 'CRYGC', 'SLC18A3', 'MSL3', 'GRIK2', 'CHD5', 'CLIC2', 'ALDH1A3', 'COL13A1', 'MSX1', 'SOX6', 'FGF10', 'TOE1', 'GABRG2', 'USF3', 'NECTIN1', 'DNAH10', 'BCAS3', 'AFG2B', 'ECM1', 'KIF11', 'TUBGCP2', 'STX1B', 'PHOX2A', 'TCEAL1', 'TAF6', 'PAX1', 'ERF', 'PPP2R2B', 'DNAAF6', 'PPP1R12A', 'NPRL2', 'LGI4', 'PDE2A', 'TRPM3', 'HOXA13', 'TBC1D20', 'DYNC1H1', 'RNF216', 'YAP1', 'EPS8L3', 'HID1', 'NPRL3', 'MSH5', 'ALX3', 'ALX1', 'NKX6-2', 'SRY', 'FA2H', 'SIX2', 'MAF', 'TAF1', 'FBXO31', 'LMBRD2', 'STAG3', 'RAB3GAP2', 'SLC32A1', 'SYCE1', 'CATIP', 'WDR81', 'AP4S1', 'TRANK1', 'ARHGEF2', 'NXN', 'VLDLR', 'EXOSC2', 'TUBB2B', 'USH1G', 'PIDD1', 'ABHD12', 'TUBB4B', 'DOCK7', 'ATP13A2', 'CAST', 'KLLN', 'OVOL2', 'GARS1', 'TYRP1', 'ATOH7', 'PCDHGC4', 'SCARF2', 'PQBP1', 'TFAP2B', 'DVL3', 'SBF2', 'POC1B', 'TUBB3', 'CHRNA4', 'RDH11', 'CERT1', 'SMC1A', 'RPS23', 'UPF3B', 'MTPAP', 'ESPN', 'ZNF526', 'KCTD1', 'XPNPEP2', 'DNHD1', 'SLC6A17', 'KLHL9', 'SMCHD1', 'NKAP', 'DSG4', 'KDM6B', 'LHB', 'GAD1', 'SLC24A1', 'ADD1', 'ATP1B1', 'CYP3A5', 'PTGIS', 'RGS5', 'PURA', 'FZD2', 'FREM2', 'SHROOM4', 'PLP1', 'CACNA1G', 'CNNM4', 'LAGE3', 'B4GALNT1', 'CWF19L1', 'TTC5', 'CLTRN', 'BRCC3', 'CRKL', 'KIF21A', 'CIB2', 'ST14', 'FOXC1', 'CUX2', 'ABCA5', 'ASPH', 'KRT74', 'FRAS1', 'CHM', 'DENND5A', 'PAX3', 'RPL21', 'SIX5', 'KRT25', 'TRPV3', 'CDKL5', 'TUBA1A', 'SMS', 'VSX1', 'CHSY1', 'FGF14', 'LSS', 'CDH11', 'PORCN', 'EIF2S3', 'CHRNA2', 'EDARADD', 'RUSC2', 'KRT71', 'ELOVL1', 'GPR179', 'FSHB', 'SPATA7', 'GRIN2A', 'SLC45A2', 'USH1C', 'NOG', 'MORC2', 'LORICRIN', 'MAB21L1', 'TENM3', 'CDH3', 'KAT5', 'KCNN2', 'CSTB', 'CYP4V2', 'CACNA1F', 'ATXN1', 'TRPM1', 'LRIT3', 'MAG', 'WHRN', 'NMNAT1', 'SCN1A', 'LGI1', 'CACNA2D4', 'MSN', 'SPAST', 'PCDH15', 'RHOBTB2', 'KRT86', 'KRT81', 'WDR45', 'ZFTA', 'CHN1', 'TMEM240', 'PDZD7', 'GNAT2', 'RAB18', 'TIMP3', 'GRM6', 'EFEMP1', 'DLG1', 'COBLL1', 'ARHGAP29', 'ARHGEF38', 'EBF3', 'MED13L', 'DVL1', 'GJB1', 'FGF3', 'FRRS1L', 'TWIST2', 'PHF6', 'CARD14', 'ATF6', 'GPR143', 'TGFBI', 'STS', 'KDM4B', 'VMA21', 'NEXMIF', 'MC1R', 'CACNB4', 'SMARCAD1', 'HDAC6', 'WNT5A', 'SLC6A1', 'PDE6C', 'ISL1', 'ARSG', 'PAX6', 'ATP10A', 'PRPH2', 'GUCA1A', 'CEP78', 'ATRIP', 'PODXL', 'NTNG1', 'CUL4B', 'SCNM1', 'NHS', 'AP2M1', 'GABRB3', 'DEPDC5', 'NUTM1', 'WNT9B', 'MID1', 'CBY1', 'LIPH', 'GRK1', 'RIPK4', 'MCM7', 'CYP1B1', 'MTM1', 'MAOA', 'CNGA3', 'ATP2A2', 'DMRT3', 'VAMP7', 'CEP126', 'AP1S2', 'CLCN4', 'IGBP1', 'JARID2', 'PCDH19', 'PRRT2', 'ZC4H2', 'RLIM', 'CABP4', 'PRR12', 'HMX1', 'CHD2', 'TP63', 'LPAR6', 'C1QTNF5', 'AXIN2', 'PAX9', 'LCA5', 'ALOX5AP', 'PRKCH', 'TYR', 'GABRA1', 'MGMT', 'TERF2IP', 'POU3F4', 'IMPDH2', 'EDA2R', 'CFP', 'UBB', 'SIX1', 'EYA1', 'NIPA2', 'DDIT3', 'BDNF', 'CNGB3', 'YWHAE', 'GRIA3', 'L1CAM', 'CA4', 'IFT88', 'EDA', 'HIC1', 'MIR17HG', 'HLA-C', 'EFNB1', 'REV3L', 'WNT10A', 'CTHRC1', 'MSR1', 'PDK3', 'FOXL2', 'TIMM8A', 'FRZB', 'COL14A1', 'LAS1L', 'TRAF6', 'GPKOW', 'SLC6A20', 'SLC6A18', 'MAGED2', 'BCKDK', 'FLRT1', 'ATP2B3', 'ADAMTSL1', 'RAB39B', 'FRA16E', 'ADORA2A', 'SIN3B', 'TAS2R16', 'ADH1B', 'AK9', 'RNF139', 'OGG1', 'PBRM1', 'IGSF1', 'TAL1', 'TAL2', 'TMLHE', 'PLEKHG4', 'RAD51D', 'CIZ1', 'AFF2', 'IFRD1', 'MACROH2A1', 'SLC9A7', 'IL1B', 'ARHGEF9', 'OPHN1', 'DISC1', 'EOMES', 'PAK3', 'FRMPD4', 'SNAI2', 'SORL1', 'TOMM40', 'BCORL1', 'MAPK10', 'WDR48', 'HLA-A', 'TMEM185A', 'ZFR', 'ZNF592', 'ABCB1', 'IRGM', 'MT-RNR1', 'SMPX', 'PHF8', 'SEM1', 'DLX6', 'BTRC', 'FBXW4', 'EPS15L1', 'OGT', 'SUMO1', 'RHOA', 'ARSI', 'KLHL15', 'CYSLTR2', 'BRWD3', 'MID2', 'KANK1', 'RS1', 'CRH', 'JRK', 'LRIF1', 'IL1RAPL1', 'FTSJ1', 'EMX2', 'PTCHD1', 'IRS4', 'DRD2', 'FGF16', 'ADRA2B', 'LZTS1', 'SMAD7', 'KIF4A', 'USP27X', 'NR4A3', 'SYP', 'KEAP1', 'AMELX', 'DIAPH2', 'TSPAN7', 'GPRASP2', 'ZFAT', 'TEX11', 'FIGLA', 'OPN1LW', 'OPN1MW', 'FKBP5', 'PLS3', 'CLDN2', 'TGFA', 'RIMS1', 'FOXO1', 'CFAP47', 'CHRDL1', 'NYX', 'CREB1', 'SSX2', 'ASPSCR1', 'HLA-DRA', 'WDR36', 'NTF4', 'DMRT1', 'TSPY1', 'DAZ4', 'SERPINA12', 'C2CD6']\n", + "['HSD3B7', 'LIPA', 'AKR1D1', 'PYGL', 'BAAT', 'CDAN1', 'CALR', 'MRPL3', 'TRMT10C', 'RUNX1', 'FAH', 'LARS1', 'STEAP3', 'MYO5B', 'SLC2A2', 'KIF23', 'SLC4A1', 'PKLR', 'RHAG', 'SCO1', 'PHKG2', 'VPS45', 'TKFC', 'SP110', 'RPS14', 'GALM', 'KLF1', 'GPR35', 'MST1', 'SEMA4D', 'LARS2', 'TFAM', 'MRPS7', 'UNC13D', 'KCNN4', 'ACAD9', 'HBB', 'FERMT3', 'ABCD3', 'LCAT', 'PCCA', 'PCCB', 'UQCRB', 'RHCE', 'MPI', 'HAMP', 'SMPD1', 'STXBP2', 'MMAB', 'UQCRFS1', 'STX11', 'RACGAP1', 'SLC25A13', 'FADD', 'DCDC2', 'DEF6', 'SCARB2', 'F5', 'STX5', 'EPB42', 'ABCB4', 'SRSF2', 'JAK2', 'ATP8B1', 'FECH', 'CDIN1', 'IARS1', 'IRF8', 'SAR1B', 'MPIG6B', 'KIF12', 'PHKA2', 'PHKB', 'HBG1', 'LYRM4', 'CCDC115', 'MRPL44', 'SLC7A7', 'SPTA1', 'GALT', 'PCK1', 'DLD', 'UNC45A', 'SPTB', 'PRF1', 'ALAS2', 'TMEM165', 'EPB41', 'TET2', 'GPD1', 'SARS2', 'COX4I2', 'ABCG8', 'CD55', 'NLRC4', 'MMAA', 'AMN', 'USP53', 'ATP6AP1', 'LPIN2', 'UMPS', 'PLEKHM1', 'ATP7B', 'MPL', 'NR1H4', 'VPS33B', 'TBXAS1', 'RHD', 'FARSB', 'TALDO1', 'PALLD', 'RABL3', 'TJP2', 'TRMU', 'GYS2', 'MTTP', 'ABCC2', 'DDOST', 'HMGCL', 'HMOX1', 'MYH9', 'HADH', 'GATC', 'QRSL1', 'HBG2', 'HMGCS2', 'EARS2', 'SLC51A', 'SLC30A10', 'CYC1', 'MECOM', 'ABCB11', 'MPV17', 'NFS1', 'PSMB9', 'PSMB4', 'TMEM199', 'RBCK1', 'ALG8', 'TNFSF15', 'POU2AF1', 'MMEL1', 'SPIB', 'PRKACG', 'GFI1B', 'ALDOB', 'THPO', 'ABCA1', 'TFRC', 'ALDOA', 'GPIHBP1', 'SLC51B', 'SEMA7A', 'BLVRA', 'GIMAP5', 'GPI', 'TF', 'APOB', 'ADK', 'ITK', 'LCK', 'SPINK1', 'CD46', 'DOCK2', 'GYPC', 'RINT1', 'IVD', 'MS4A1', 'CUBN', 'FBP1', 'SLC11A2', 'DAXX', 'PRSS1', 'PRSS2', 'TCN2', 'CTRC', 'OTC', 'ACSL5', 'TNFSF12', 'B4GALT1', 'SF3B1', 'DNASE2', 'UQCRC2', 'CPT1A', 'STAT2', 'NAF1', 'NEUROG3', 'LMO1', 'ALK', 'LIN28B', 'TOP2A', 'HAVCR2', 'SERPINA1', 'NBEAL2', 'SLC40A1', 'LPL', 'CYP7B1', 'SH2B3', 'EIF2AK3', 'COX10', 'ADAMTS13', 'SLC25A38', 'IRF2BP2', 'ASL', 'NPC1', 'ZNFX1', 'PIEZO1', 'SLC22A5', 'XIAP', 'MTHFD1', 'AMACR', 'FOCAD', 'CA2', 'HSCB', 'SH2D1A', 'NFKB1', 'GATB', 'IL12RB1', 'FTH1', 'ACAD8', 'HJV', 'ACSF3', 'GATA1', 'TNFRSF13B', 'ACADM', 'CSF3R', 'ZFYVE19', 'IKZF1', 'GATA2', 'ALG6', 'TNFRSF13C', 'GLRX5', 'CD81', 'G6PC1', 'RAG2', 'DHFR', 'CELA2A', 'SBDS', 'MTO1', 'BPGM', 'SLC4A2', 'EPOR', 'PSMB10', 'PKHD1', 'EPO', 'EFL1', 'XK', 'GP1BA', 'ICOS', 'RIPK1', 'OSTM1', 'CD27', 'GSS', 'PCK2', 'IL18BP', 'DPYS', 'ATP6V0A4', 'PGM1', 'TRNT1', 'RAG1', 'NHLRC2', 'MDM4', 'DGUOK', 'GCLC', 'CORIN', 'MRPS2', 'MICOS13', 'HELLPAR', 'HNF4A', 'BCS1L', 'IFT56', 'GALK1', 'YARS1', 'ITGA2B', 'HLA-DQA1', 'KRT18', 'AK2', 'TMPRSS6', 'UROD', 'ACAT1', 'ERCC6L2', 'MARS1', 'DGAT1', 'G6PC3', 'SLC9A3', 'CD19', 'TLR8', 'ETV6', 'TNPO3', 'AHCY', 'SLC37A4', 'APOE', 'CYP7A1', 'SUGCT', 'SMARCD2', 'EWSR1', 'CD36', 'PIK3CG', 'FARSA', 'HBA2', 'SLCO2A1', 'FOXP3', 'ABHD5', 'MMUT', 'LYST', 'SRC', 'SLC25A20', 'ACTN4', 'APOA1', 'NSMCE2', 'CBLIF', 'SRP54', 'HADHB', 'HBA1', 'ALB', 'SYK', 'RFX6', 'COA8', 'DNAJC19', 'PNPO', 'KIF20A', 'ASS1', 'GFM1', 'SNX10', 'NDUFB7', 'IGH', 'SLC25A3', 'UBR1', 'G6PD', 'HCK', 'PSTPIP1', 'CAD', 'SLC5A1', 'SURF1', 'SI', 'TMPRSS15', 'GALE', 'SLC25A15', 'MT-TN', 'DZIP1L', 'ABCD4', 'CFB', 'SERPINA6', 'IL21R', 'MYC', 'FYB1', 'HFE', 'PET100', 'CLCA4', 'SLC11A1', 'SLC6A14', 'DCTN4', 'SLC26A9', 'GSTM3', 'CEACAM3', 'CEACAM6', 'LMBRD1', 'ERBB3', 'USP18', 'MIF', 'RARA', 'NUMA1', 'IL37', 'F12', 'COG7', 'COG6', 'UROS', 'ASAH1', 'TPI1', 'COG4', 'SLC26A3', 'VWF', 'TNFSF11', 'WRAP53', 'ACADVL', 'PRKCSH', 'PFKM', 'THBD', 'AGXT', 'FCGR2A', 'ANKRD26', 'FTCD', 'HADHA', 'TFR2', 'FLT1', 'LACC1', 'VPS50', 'STAT5B', 'IRF5', 'TYMP', 'LIG3', 'APOA5', 'PUS1', 'PML', 'NABP1', 'FIP1L1', 'ZBTB16', 'KLKB1', 'MTRR', 'TRAC', 'PIGM', 'LAT', 'RNU7-1', 'YARS2', 'MRPS28', 'KHK', 'GBE1', 'UGT1A1', 'CYP27B1', 'NDUFB8', 'CYP2R1', 'AP1S3', 'CA5A', 'SHPK', 'BMP6', 'GDF2', 'LDLRAP1', 'FGA', 'CBL', 'MCEE', 'VKORC1', 'SKIC3', 'LCT', 'RPSA', 'RAB27A', 'F13B', 'STOX1', 'NR3C2', 'CP', 'FGF23', 'IL7R', 'NPC2', 'NDUFA2', 'MCCC2', 'RAC2', 'VIPAS39', 'NDUFAF1', 'TUFM', 'F13A1', 'PDSS2', 'NPM1', 'F2', 'GP9', 'SLC19A1', 'PHOX2B', 'APOC2', 'ACD', 'SAMD9', 'PLVAP', 'IL1RN', 'TIMM22', 'PEPD', 'COG8', 'SAMD9L', 'ALPL', 'OCLN', 'NT5C3A', 'PTPRJ', 'RPL27', 'ACTN1', 'UQCC3', 'PRDX1', 'POLG2', 'DNAJC21', 'WDR1', 'FMO3', 'CLPB', 'CFTR', 'TNFRSF4', 'SFXN4', 'GATM', 'TOM1', 'ITGB3', 'HLCS', 'MTR', 'ACOX2', 'MALT1', 'PERCC1', 'TEK', 'F11', 'JAGN1', 'TGFB1', 'LDLR', 'AP1B1', 'MMADHC', 'LIPC', 'CTSA', 'C2orf69', 'CLDN1', 'TCIRG1', 'TREH', 'AGGF1', 'ARPC1B', 'UQCRH', 'ADH5', 'LRRK1', 'LYZ', 'C3', 'LIPT1', 'CYP19A1', 'RFT1', 'PCSK9', 'CYB561', 'ABCG5', 'ANK1', 'NEK8', 'RPL35', 'PRKCD', 'TCF3', 'DCLRE1C', 'BCHE', 'MRM2', 'COX5A', 'SERAC1', 'ISCU', 'CUL3', 'CR2', 'MPO', 'TRMT5', 'FDX2', 'SLC34A1', 'ZAP70', 'ADA', 'LRBA', 'TPMT', 'JAK1', 'OPLAH', 'SLC52A1', 'NAGS', 'SLC17A5', 'MVK', 'REL', 'NHP2', 'CETP', 'SGO1', 'RHBDF2', 'CPS1', 'DGKE', 'ABL1', 'IL12A', 'CAT', 'HBD', 'CD3D', 'PC', 'HSD11B2', 'BTNL2', 'BCAT2', 'KIT', 'GAA', 'CBS', 'NOP10', 'MCM4', 'PNPLA2', 'RMND1', 'FAM111A', 'COX14', 'CD40LG', 'IL36RN', 'ELANE', 'STAT1', 'RFXAP', 'RFX5', 'RFXANK', 'SLC46A1', 'CLMP', 'PTPRC', 'USB1', 'C1GALT1C1', 'RPL18', 'ALG1', 'GSTZ1', 'CAVIN1', 'ELAC2', 'LMAN1', 'COX16', 'DDX41', 'SKIC2', 'RTEL1', 'ORAI1', 'IFNGR1', 'MCCC1', 'MRPS16', 'MIPEP', 'PARN', 'RPS27', 'SGMS2', 'SLC4A4', 'CPA1', 'RPS15A', 'CASR', 'EHHADH', 'ACVRL1', 'IL2RB', 'PPOX', 'GLIS3', 'BIRC3', 'ASXL1', 'CIITA', 'WIPF1', 'CLCN7', 'CFHR3', 'CFHR1', 'NSUN3', 'FH', 'CA12', 'MRPS23', 'TYMS', 'SCYL1', 'STING1', 'CPOX', 'TERC', 'SLC35A1', 'TPP2', 'UQCC2', 'RPL5', 'IL6', 'RPS24', 'MSMO1', 'TPM4', 'RPL11', 'ELMO2', 'SUCLG1', 'PAX4', 'CASP8', 'SOCS1', 'CYCS', 'PSMG2', 'FSHR', 'ITCH', 'RPS10', 'DPM2', 'LRPPRC', 'NFKB2', 'MLYCD', 'RPS17', 'RPL15', 'PDSS1', 'OTULIN', 'SLC10A1', 'SLC25A21', 'ARG1', 'CD70', 'NPHP3', 'COX6B1', 'COA6', 'POLRMT', 'SLC25A10', 'ENG', 'NAE1', 'RPL35A', 'DLL4', 'CYBC1', 'SC5D', 'RPS7', 'RASGRP1', 'HACE1', 'CTC1', 'COG2', 'B2M', 'PPARG', 'ELF4', 'CCND1', 'SEC63', 'ANKS6', 'EPHB4', 'ACVR1', 'MC4R', 'ALPK1', 'TCF4', 'AVP', 'STX3', 'STT3B', 'BCL10', 'SCNN1A', 'DMP1', 'ACACA', 'STIM1', 'SMC5', 'SCNN1B', 'TINF2', 'DSG1', 'NOTCH1', 'SCNN1G', 'P2RY12', 'MT-TV', 'AGK', 'GHSR', 'CSF2RA', 'SLC19A2', 'RPS29', 'PRIM1', 'SLC12A1', 'SCN11A', 'MPC1', 'CYP2C9', 'HIBCH', 'CFI', 'SLC25A19', 'NDUFB9', 'MOGS', 'TBX19', 'EDNRA', 'HPD', 'EPHB2', 'PLAU', 'HNF1A', 'BACH2', 'MRPS14', 'PALB2', 'PEX14', 'CRIPT', 'FLI1', 'COX15', 'WNT2B', 'RPS26', 'RPL26', 'SLC39A7', 'CPT2', 'CTNS', 'RNASEH2A', 'THRA', 'HPGD', 'PSMB8', 'SERPINF2', 'PLD1', 'MYCN', 'FGG', 'FGB', 'SCN10A', 'CREB3L3', 'GOT2', 'KCNJ1', 'ALG3', 'LYRM7', 'MYSM1', 'TNFRSF11A', 'ANO6', 'LDHA', 'SERPINE1', 'CFH', 'WRN', 'STN1', 'NHERF1', 'KARS1', 'YIPF5', 'PCSK1', 'ETFA', 'ETFDH', 'ETFB', 'SLC34A3', 'CARD11', 'ARFGEF2', 'ATPAF2', 'DPM1', 'IFNG', 'ADCY10', 'SLC25A26', 'BRCA1', 'ACADS', 'PTF1A', 'WAS', 'COQ9', 'POMC', 'IFIH1', 'DIAPH1', 'SEC61A1', 'HRG', 'PLA2G7', 'SUCLA2', 'CYP3A4', 'AP1S1', 'GK', 'LEMD2', 'NOS3', 'NDUFB10', 'FARS2', 'NDUFS4', 'MYD88', 'RPL13', 'PMM2', 'NDUFV1', 'NPHP4', 'TSFM', 'SLCO1B1', 'SLCO1B3', 'BCL6', 'BCL2', 'INS', 'RIT1', 'MET', 'CASP10', 'PSMC1', 'PLA2G4A', 'BCAP31', 'PROS1', 'MCM10', 'TARS2', 'TRAF3IP1', 'ETHE1', 'CD3E', 'NFKBIA', 'INVS', 'WNK1', 'NFU1', 'ATP5F1A', 'GP6', 'XPR1', 'RPS28', 'TP53', 'AGR2', 'ALAD', 'HELLS', 'SLC10A2', 'NDUFAF8', 'CYP24A1', 'NHEJ1', 'VPS33A', 'DMGDH', 'NDUFS3', 'CD247', 'BLK', 'IL12B', 'OGDH', 'HOXA11', 'IKZF5', 'AKT2', 'HEATR3', 'TNFRSF9', 'SMARCAL1', 'AQP2', 'CEL', 'ZNF668', 'REN', 'CYB5R3', 'C1QBP', 'GBA1', 'JAK3', 'FOS', 'TBXA2R', 'PHLDB1', 'FASLG', 'ANKRD55', 'PTPN2', 'SLFN14', 'LPIN1', 'GFI1', 'CEBPE', 'MRPS22', 'RPS19', 'MMACHC', 'MRPL12', 'IDH2', 'SRD5A3', 'NDUFAF4', 'KLF11', 'ABCC6', 'HAGH', 'NDUFA11', 'DNMT3B', 'AGPS', 'POU6F2', 'PDGFRA', 'SQOR', 'SMAD4', 'IRF4', 'DYRK1B', 'GCM2', 'SLC16A1', 'GTPBP3', 'ESR1', 'ISCA1', 'CDC40', 'NEUROD1', 'IL2RA', 'SAA1', 'ATP5F1B', 'NSMCE3', 'OBSCN', 'ADAR', 'BCKDHA', 'PEX2', 'TULP3', 'NCF4', 'NDUFB3', 'ZFP57', 'TMEM67', 'AGPAT2', 'ZNF699', 'NCF2', 'HSD17B4', 'NDUFS7', 'NDUFA9', 'CIDEC', 'P4HA2', 'LRRC8A', 'KIF3B', 'NDUFA8', 'MEF2A', 'AP3B1', 'CD3G', 'SLF2', 'PDX1', 'PAPPA2', 'COX20', 'NDUFA4', 'FBXL4', 'IL2RG', 'MCFD2', 'CYBA', 'LIAS', 'PDP1', 'PITRM1', 'TMEM126B', 'DBH', 'NGLY1', 'SOS2', 'AUH', 'ADA2', 'GPX1', 'ALG12', 'APPL1', 'RPL9', 'RPL8', 'RPL31', 'SLC39A8', 'NLRP1', 'COX4I1', 'XDH', 'FUT8', 'FCGR2B', 'DNASE1', 'EPAS1', 'POMP', 'ARF1', 'GCDH', 'PMPCB', 'F7', 'APRT', 'ALDH2', 'SLC12A3', 'SLC29A3', 'TRPV6', 'KNG1', 'DDRGK1', 'ENPP1', 'GNA14', 'SAMHD1', 'ARHGAP31', 'PPP1R17', 'APOA2', 'EPHX2', 'ANTXR2', 'NDUFS6', 'MBTPS1', 'RRM2B', 'ADAMTS19', 'POLD1', 'MYBPC3', 'CSF2RB', 'SAT1', 'AGL', 'SLC39A4', 'CEP83', 'NPHS1', 'CISD2', 'GCK', 'CDKN2A', 'ANO1', 'SASH3', 'BRCA2', 'TMEM70', 'RBPJ', 'HSPA9', 'NDUFS1', 'HLA-B', 'DPP9', 'DOLK', 'CREB3L1', 'KLHL3', 'SEC23B', 'SGSH', 'EOGT', 'RRAS2', 'AK1', 'NLRP3', 'MT-TK', 'NDUFA10', 'STAT3', 'GNMT', 'PRLR', 'NADK2', 'IL21', 'SLC25A4', 'IKBKB', 'C1QB', 'CYP2A6', 'RPGRIP1L', 'MUC1', 'MT-ND3', 'COG1', 'JAM2', 'IRAK1', 'SPP1', 'IGLL1', 'COX8A', 'LIPT2', 'GUCY1A1', 'NDUFA6', 'GCGR', 'NDUFS2', 'KIF1B', 'PRG4', 'SOS1', 'NDUFA13', 'IKZF3', 'MT-ND2', 'SPI1', 'MRAS', 'HLA-DQB1', 'TNFRSF11B', 'MT-TT', 'NLRP12', 'MEFV', 'RNASEH2C', 'NDUFV2', 'ESR2', 'SLC3A1', 'TSR2', 'LBR', 'HPS6', 'CARD9', 'HNRNPA2B1', 'FCHO1', 'CNOT1', 'CDCA7', 'DUT', 'ALG11', 'PEX13', 'CLPX', 'TIMMDC1', 'BTK', 'DKC1', 'TANGO2', 'F8', 'ADAMTSL2', 'AFP', 'CD79A', 'PNP', 'RNASEH2B', 'MT-TW', 'PEX12', 'NT5E', 'HGD', 'SRP72', 'NOD2', 'PIGA', 'LTC4S', 'STK11', 'RORC', 'ERBB2', 'TNFAIP3', 'PPA2', 'ALMS1', 'UPB1', 'CD109', 'ITGA2', 'PEX16', 'BLNK', 'GANAB', 'STAT6', 'NAB2', 'TNNI3', 'HYOU1', 'ACVR2B', 'LSM11', 'BLOC1S6', 'EGLN1', 'IGFBP7', 'CD79B', 'KCNJ16', 'GUCY2C', 'CACNA1S', 'PLIN1', 'CYP11B2', 'BCL11A', 'NUBPL', 'VPS51', 'STAT4', 'FCGR3B', 'FDFT1', 'ATM', 'PDLIM4', 'CALCR', 'MLX', 'NDUFAF3', 'SLC5A2', 'HNF1B', 'COQ4', 'TSHB', 'MPDU1', 'ZNF687', 'NCKAP1L', 'NDUFAF6', 'GEMIN4', 'PKD2', 'BMP2', 'ANAPC1', 'HPS4', 'COG5', 'TNNT2', 'MAD2L2', 'MT-ND4', 'TRPC6', 'REST', 'VDR', 'IGF1', 'XRCC4', 'GSR', 'LIPE', 'GDF1', 'AASS', 'SCO2', 'F10', 'PREPL', 'PEX26', 'PNPLA8', 'NDUFAF5', 'AARS2', 'NUP205', 'NDUFS8', 'BCR', 'MT-CO1', 'PHEX', 'KCNJ11', 'NCAPG2', 'MT-TS1', 'IGHM', 'AMPD1', 'GLA', 'CYP11A1', 'CDC73', 'MTX2', 'SMAD6', 'OXCT1', 'PBX1', 'HYMAI', 'PDHX', 'GHRL', 'SDC3', 'ADRB3', 'UCP3', 'AGRP', 'NR0B2', 'CARTPT', 'GNPAT', 'NPHS2', 'GLYCTK', 'ITGAM', 'TNIP1', 'ETS1', 'IGHG1', 'UBE2L3', 'PXK', 'BANK1', 'JAZF1', 'GNPTG', 'WFS1', 'PAX2', 'SLC35C1', 'UBE2T', 'MT-TC', 'COQ2', 'MYORG', 'EDNRB', 'PRSS12', 'HTRA2', 'SERPINC1', 'DPAGT1', 'GDNF', 'GNE', 'NDUFAF2', 'BMPR1A', 'SSR4', 'NPPA', 'MAGI2', 'TTC7A', 'ANGPTL3', 'PPCS', 'PSAP', 'PTH1R', 'BRIP1', 'MT-ND6', 'CTNNBL1', 'ZBTB24', 'NRXN1', 'MT-CO3', 'BMPR2', 'RB1', 'THSD1', 'OCRL', 'GGCX', 'PEX19', 'SLC25A36', 'SLC20A2', 'ABCC8', 'MCM6', 'TNFRSF1A', 'GATA6', 'FOXRED1', 'MT-TI', 'F9', 'PDHB', 'ALG13', 'NUP93', 'OAS1', 'TBL1XR1', 'NFE2L2', 'ECE1', 'ATRX', 'HPS3', 'RFWD3', 'UBA2', 'VARS2', 'C4B', 'RELB', 'DPM3', 'RRAS', 'RASA2', 'MT-ND5', 'EMP2', 'PTPRO', 'DUOXA2', 'LHX1', 'KCNE1', 'ARMC5', 'SUOX', 'CYBB', 'PTPN22', 'TAPT1', 'HS3ST6', 'MT-CO2', 'COX6A2', 'IYD', 'FAS', 'YY1AP1', 'NAGLU', 'PNLIP', 'ABCB6', 'RRAGD', 'TTC21B', 'FANCE', 'CARS2', 'FANCA', 'CCDC134', 'PEX11B', 'FANCC', 'MGAT2', 'CHRNA3', 'PLOD2', 'VPS13A', 'HEXB', 'COPB2', 'RIGI', 'KYNU', 'RBM8A', 'SMAD2', 'ABCB7', 'SLC25A42', 'GREM1', 'TLL1', 'NUP160', 'ANLN', 'VHL', 'BMS1', 'NEU1', 'SLC5A5', 'TTR', 'MT-TL1', 'TREX1', 'FASTKD2', 'MTHFR', 'MMP1', 'SETX', 'CLCNKB', 'BSND', 'C4A', 'MYLK', 'SRP19', 'EGFR', 'WNK4', 'CAV1', 'NDUFA12', 'LIG4', 'CCDC47', 'ARSB', 'MOCS1', 'ACOX1', 'ECHS1', 'SPRED2', 'CENPT', 'LAMC2', 'MT-TF', 'SLX4', 'RARS2', 'CIROP', 'MT-TQ', 'POLG', 'GH1', 'SIK3', 'DCXR', 'PLOD3', 'BANF1', 'KIAA0319L', 'SECISBP2', 'TLR7', 'MT-ND1', 'CCDC32', 'TPO', 'MED17', 'NUP214', 'LZTR1', 'IREB2', 'NKX2-6', 'NBAS', 'DAAM2', 'PLCE1', 'FANCF', 'RPS20', 'MAP2K1', 'PIGH', 'BOLA3', 'KL', 'RECQL', 'COX11', 'GGPS1', 'NOTCH2', 'FUCA1', 'NARS2', 'HSD17B10', 'ATP11C', 'TXNRD2', 'GLUD1', 'MMP14', 'HPS5', 'PDCD1', 'SMAD3', 'CEP19', 'SERPIND1', 'GALNT2', 'GINS1', 'SPRTN', 'DNASE1L3', 'THRB', 'FANCD2', 'CACNA1D', 'H19', 'IFT122', 'EPCAM', 'CD59', 'MYO1E', 'PET117', 'DIS3L2', 'NRTN', 'SEMA3C', 'SEMA3D', 'MRPS34', 'MT-CYB', 'CBFB', 'GFER', 'TMTC3', 'LAMB3', 'IRAK4', 'SLC31A1', 'TBC1D8B', 'DHCR24', 'FANCI', 'CYP27A1', 'POU1F1', 'HLA-DRB1', 'TSHR', 'MBL2', 'DUOX2', 'PEX3', 'PNPT1', 'NAXD', 'TRAPPC11', 'ALG2', 'PRKAG2', 'FANCG', 'AP2S1', 'SPARC', 'UCP2', 'GPR161', 'IDH1', 'IL6ST', 'PHF21A', 'BMP1', 'PRORP', 'JPH2', 'ACTG2', 'TG', 'NNT', 'CAV3', 'RARB', 'PLG', 'PTPN11', 'STAR', 'ATP5F1D', 'FANCL', 'TAOK1', 'DOCK6', 'STRA6', 'FKBP10', 'MUC5B', 'SFTPA2', 'RASGRP2', 'HMBS', 'DDC', 'MDH2', 'TBL1X', 'BBS12', 'RMRP', 'COQ8B', 'ARHGDIA', 'GP1BB', 'TRIM37', 'TERT', 'UBA1', 'TUBB1', 'NPR2', 'MT-TP', 'YME1L1', 'RASA1', 'KIF15', 'TNFRSF1B', 'CD28', 'FANCM', 'PIK3CD', 'MRAP', 'COQ7', 'DCLRE1B', 'CXCR4', 'TAFAZZIN', 'ERCC4', 'NOS1', 'LRP6', 'MT-TH', 'BAG5', 'STX16', 'TRPM7', 'PIGC', 'JAG1', 'DSG2', 'HK1', 'LAMA3', 'PLOD1', 'ALDH6A1', 'ADCY3', 'CEP164', 'CRAT', 'GET4', 'CLDN16', 'CTLA4', 'SERPING1', 'PPM1B', 'CAMKMT', 'BNC1', 'MT-TS2', 'LMOD2', 'TICAM1', 'TWNK', 'INF2', 'LEMD3', 'BTD', 'POLR3K', 'ATP7A', 'FCGR2C', 'SNIP1', 'DNAJC3', 'NUP37', 'USP8', 'GATA5', 'PEX10', 'LCP2', 'ATP5F1E', 'DTYMK', 'RAD51C', 'IER3IP1', 'IFT172', 'FAM111B', 'LTBP4', 'PRKG1', 'IL10', 'PRKACA', 'ZCCHC8', 'GGT1', 'FOXP1', 'IRX5', 'ATAD3A', 'UQCRQ', 'CXCR2', 'XRCC2', 'SDHA', 'GLB1', 'FN1', 'TXN2', 'INSR', 'COL4A5', 'NDUFC2', 'INPP5E', 'OTUD5', 'NDUFA1', 'NPHP1', 'GUSB', 'DYNC2LI1', 'MC2R', 'TRIM28', 'LHX4', 'TAB2', 'ERCC8', 'ERMARD', 'MAN2B1', 'WDPCP', 'GNPTAB', 'LMF1', 'CLCN2', 'CNTN1', 'RAD51', 'CDKN1B', 'KCNQ1', 'WNT1', 'BBIP1', 'ZBTB7A', 'RPA1', 'CCN6', 'IFT140', 'CLCNKA', 'MAGT1', 'FLAD1', 'GPHN', 'BMP15', 'COL7A1', 'CC2D2A', 'CASK', 'LRP5', 'SFTPC', 'WARS2', 'NKX2-5', 'MAPK8IP1', 'RETN', 'MTNR1B', 'SLC30A8', 'PPP1R3A', 'IGF2BP2', 'IRS2', 'HMGA1', 'TCF7L2', 'GPD2', 'PTPN1', 'IRS1', 'TGFB2', 'PTPN3', 'BBS5', 'SLC34A2', 'SOD1', 'PRKAR1A', 'BBS7', 'ATP5MK', 'HIKESHI', 'DTNBP1', 'RBM20', 'PIK3R5', 'ADAMTS3', 'ARL6IP6', 'VPS4A', 'GATAD1', 'BBS10', 'TRHR', 'CFC1', 'MFAP5', 'PSMC3IP', 'CYP21A2', 'P3H1', 'SHOC2', 'GNAS', 'MADD', 'TYROBP', 'CPSF3', 'TRDN', 'PGM3', 'SCN5A', 'PTRH2', 'TGFB3', 'CRB2', 'DYNC2I1', 'GTF2H5', 'ITGA3', 'ADAMTS2', 'TNFSF4', 'STT3A', 'COQ8A', 'CCBE1', 'PAX8', 'RETREG1', 'SDCCAG8', 'ENO3', 'RYR1', 'RNF213', 'CARD10', 'ACAT2', 'HNRNPA1', 'TIMM50', 'MAT1A', 'TLR3', 'ZIC3', 'UFSP2', 'WDR35', 'LAMA5', 'EDN3', 'LINS1', 'LBX1', 'CHEK2', 'SPIDR', 'BBS4', 'HSPD1', 'MYH11', 'HSD11B1', 'PHGDH', 'SGCD', 'AGA', 'XYLT2', 'KPTN', 'PEX6', 'ACTA2', 'NSF', 'PKD1', 'KCNJ5', 'STX1A', 'PROP1', 'C18orf32', 'EMG1', 'KRAS', 'POT1', 'NSUN2', 'RAF1', 'TOP3A', 'NEDD4L', 'BBS9', 'ATP6V0A1', 'MYL3', 'POC1A', 'PLN', 'COL5A2', 'DEGS1', 'UNC93B1', 'GALNS', 'GFM2', 'ARHGEF1', 'DIO1', 'NCAPH', 'SCN2B', 'COL1A2', 'COL1A1', 'MMP21', 'RNF168', 'AFG2A', 'ATP6AP2', 'CELSR1', 'TDP1', 'TGFBR1', 'ALG9', 'MTAP', 'VEZF1', 'CSRP3', 'PROC', 'NBN', 'MKKS', 'MIA3', 'ZBTB20', 'EPG5', 'CASQ2', 'CCR1', 'IL12A-AS1', 'ERAP1', 'TLR4', 'UBAC2', 'IL23R', 'KLRC4', 'MOCS2', 'ADAM17', 'GNAS-AS1', 'TCAP', 'SLC2A9', 'DES', 'ROBO4', 'NOS1AP', 'SLC39A13', 'NCF1', 'MT-ATP6', 'SIL1', 'ZPR1', 'COL4A3', 'EN1', 'TMEM38B', 'SH3BP2', 'TGFBR2', 'LAMA4', 'TNNC2', 'IL6R', 'SH2B1', 'TRAF3', 'NUP85', 'GPAA1', 'LHX3', 'IBA57', 'KRIT1', 'FAT4', 'COMT', 'PDHA1', 'TKT', 'PPIL1', 'DMPK', 'RPL3L', 'IFITM5', 'THSD4', 'PRDM16', 'MYL2', 'ACP5', 'FCSK', 'ZSWIM7', 'GOLGA2', 'DNM1L', 'TBX20', 'FKBP14', 'PIK3R1', 'PIGT', 'P4HB', 'VPS11', 'APTX', 'PEX5', 'DCHS1', 'TPK1', 'CITED2', 'ELP1', 'LOX', 'WT1', 'ITGB2', 'ERCC6', 'GHR', 'VPS53', 'IFT27', 'HMGA2', 'AVPR2', 'CTCF', 'SDHC', 'MYL4', 'SCN3B', 'PIGB', 'NR3C1', 'FLNC', 'SDHD', 'RNF125', 'KCNE2', 'HPDL', 'ITPR2', 'SLC25A11', 'IGHMBP2', 'SPINK5', 'PLAGL1', 'PTCD3', 'AMPD2', 'MYPN', 'PPFIBP1', 'MCM9', 'AIRE', 'CYP17A1', 'NRAS', 'LIG1', 'KCNE3', 'KLHDC8B', 'MYRF', 'TRPM4', 'TRIP13', 'TNNC1', 'H4C3', 'BSCL2', 'ST3GAL5', 'PLAG1', 'DNAJB11', 'SCN4B', 'CRLF1', 'SLC30A9', 'IGKC', 'NTRK1', 'DOHH', 'FOXF1', 'SCLT1', 'CD2AP', 'CHD7', 'DMD', 'PDGFRL', 'DLAT', 'PIGK', 'NCAPD2', 'GLI1', 'MED12', 'KMT5B', 'ADAMTS10', 'ITPR3', 'DLST', 'RARS1', 'NKX3-2', 'CDK5', 'SGPL1', 'GNB2', 'SLC2A1', 'MICU1', 'VCL', 'IL17RD', 'FBP2', 'TECTA', 'KDELR2', 'DHCR7', 'ABCA12', 'GAPVD1', 'ARHGAP24', 'ANKFY1', 'EXT2', 'IL1R1', 'ARL6', 'CALM3', 'OSGEP', 'CYB5A', 'PRPH', 'HIVEP2', 'PIK3C2A', 'LZTFL1', 'TDP2', 'SREBF1', 'SOST', 'CACNB2', 'PKP2', 'NUP155', 'SLC36A2', 'LMNB2', 'MSH4', 'MAP1B', 'HESX1', 'POLR2A', 'HAL', 'CIC', 'CD40', 'MNS1', 'GPD1L', 'HNRNPH1', 'TFE3', 'MAX', 'TMEM127', 'PRDM5', 'PLPBP', 'KCNA5', 'FLT4', 'EXOSC8', 'CST3', 'ANK2', 'MTFMT', 'CARD8', 'BUB1B', 'HTR1A', 'DSC2', 'DNM2', 'RIN2', 'PLEKHG5', 'ALG5', 'AKAP9', 'NEXN', 'CHRM3', 'SFRP4', 'KDM6A', 'KRT13', 'IPO8', 'MYH6', 'BLM', 'LETM1', 'KCNH2', 'APOL1', 'EPX', 'TENT5A', 'IQCB1', 'PYGM', 'BBS1', 'BCOR', 'TRAPPC2', 'NUP107', 'PARS2', 'SLC4A3', 'TBX1', 'KCNJ18', 'EXOSC3', 'TNNI3K', 'AMPD3', 'RREB1', 'ARVCF', 'UFD1', 'JMJD1C', 'HIRA', 'SEC24C', 'AGO2', 'GNA11', 'COL5A1', 'KISS1R', 'GRIA4', 'CD244', 'NFKBIL1', 'SLC22A4', 'SCAPER', 'TRIM32', 'NAT2', 'CES1', 'JPH1', 'CFAP418', 'ARCN1', 'INPPL1', 'FNIP1', 'MLIP', 'KCNK3', 'DZIP1', 'AP3D1', 'BICC1', 'ALPK3', 'CDKN2C', 'CDKN1A', 'PMS2', 'SNTA1', 'TPM1', 'SLC35A2', 'SARDH', 'ACTC1', 'MAPKAPK5', 'CD96', 'ABCA3', 'B4GALT7', 'DPP6', 'NPR3', 'NAGA', 'MSH2', 'CCM2', 'AICDA', 'NUDT2', 'ITGB4', 'NACC1', 'PEX1', 'ALDH7A1', 'ALDH1A2', 'CDKN1C', 'SDHAF2', 'CHST3', 'SDHB', 'ASXL2', 'DOCK8', 'ANKH', 'TRH', 'FBN2', 'ZNF341', 'CRLS1', 'SNORD116-1', 'NPAP1', '-', 'PWRN1', 'PWAR1', 'SNORD115-1', 'IPW', 'FANCB', 'MANBA', 'H3-3B', 'DYNC2I2', 'PEX7', 'CALCRL', 'SLC7A9', 'PTPN14', 'SOX18', 'MPEG1', 'CTSK', 'GET3', 'JAM3', 'IFT80', 'RNF13', 'PTH', 'FBXW7', 'CCDC28B', 'LYSET', 'LGI3', 'GTF2E2', 'PYCR1', 'ZNF469', 'STK4', 'C9orf72', 'DCTN1', 'ANGPT1', 'SEC31A', 'IDUA', 'HS6ST2', 'KRT10', 'TIE1', 'TAF13', 'FKBP6', 'HABP2', 'ATP6V1B1', 'EIF5A', 'TRIT1', 'RBM10', 'PKD1L1', 'ABCD1', 'MMP13', 'GALC', 'NAXE', 'KCNJ10', 'TBX2', 'DYM', 'PIGS', 'WDR19', 'ZNF335', 'VEGFC', 'FGFRL1', '-', 'KRT6B', 'AIMP1', 'MB', 'NCAPD3', 'TXNDC15', 'POLE', 'MYO1H', 'CALM2', 'MSH6', 'EPRS1', 'CYP2D6', 'PIGU', 'PGR', 'SLC2A10', 'RET', 'SPR', 'PDCD10', 'HACD1', 'STAG1', 'TUBA4A', 'CALM1', 'CARS1', 'PIGG', 'TTC8', 'FOXN1', 'WDR4', 'DNAJC30', 'HERC2', 'TFG', 'CFAP53', 'SPPL2A', 'ATPAF1', 'LRSAM1', 'MKRN3', 'TRIP11', 'HCN4', 'RNU4ATAC', 'SLC26A4', 'IFT74', 'ASPA', 'BGN', 'CSPP1', 'MUTYH', 'SUMF1', 'TMEM260', 'PMS1', 'TIA1', 'LIMS2', 'UNC80', 'AGTPBP1', 'SHOX', 'RNF2', 'BBS2', 'PLXND1', 'NEFH', 'ALDH4A1', 'RYR2', 'NAT8L', 'GUF1', 'TOR1A', 'ARPC4', 'NHLH2', 'CORO1A', 'TNPO2', 'TSPAN12', 'CSNK2A1', 'NR2F2', 'ESCO2', 'HPRT1', 'FHOD3', 'NGF', 'GORAB', 'KMT2E', 'TAC3', 'MT-TE', 'GNS', 'CDKN2B', 'PSPH', 'SPTBN4', 'CDC42', 'GLE1', 'USP48', 'SP7', 'SFTPB', 'ACVR1B', 'CFAP45', 'LMNA', 'BPTF', 'IL17F', 'FERMT1', 'MYL11', 'LONP1', 'FOXA2', 'RNF43', 'ACTN2', 'MATR3', 'MLXIPL', 'C19orf12', 'LMOD1', 'ALG10B', 'CNNM2', 'NAA20', 'PDGFRB', 'TARS1', 'UFM1', 'VRK1', 'TNF', 'PLIN4', 'FLRT3', 'DNAL1', 'MCM5', 'CRYBB3', 'ENAM', 'CEACAM16', 'VPS37D', 'GTF2IRD1', 'BCL7B', 'BAZ1B', 'GTF2I', 'LIMK1', 'TMEM270', 'EIF4H', 'METTL27', 'CLIP2', 'BUD23', 'TBL2', 'GTF2IRD2', 'RFC2', 'ELMOD3', 'HLA-DPA1', 'PRTN3', 'PCGF2', 'MYLK2', 'ATP9A', 'DNAJB4', 'MMP2', 'FAN1', 'FTO', 'KRT4', 'HNMT', 'APOC3', 'C5', 'CARMIL2', 'PRKACB', 'SCN9A', 'SLC12A5', 'IL10RA', 'CTBP1', 'CLEC7A', 'COL3A1', 'CPN1', 'NAA15', 'ITGA7', 'PDE11A', 'PACS2', 'NSMF', 'SKI', 'CTPS1', 'IDS', 'GNRHR', 'MEN1', 'KRT2', 'ABCC9', 'KISS1', 'PHYH', 'TUBA8', 'KLHL24', 'EYA4', '-', 'HPS1', 'MGME1', 'MAT2A', 'HEY2', 'AFF3', 'KRT1', 'TARDBP', 'TNXB', 'MKS1', 'CENATAC', 'NFASC', 'EVC', 'EVC2', 'WNT7B', 'RANBP2', 'MYL9', 'CEP57', 'STRADA', 'CNBP', 'MLH1', 'OPTN', 'UBTF', 'INPP5K', 'LEPR', 'ARL13B', 'CEP290', 'BUB1', 'WDR11', 'P4HTM', 'PAH', 'DTNA', 'BCO1', 'ELN', 'TECRL', 'IL17RA', 'CTDP1', 'PFN1', 'AEBP1', 'GATA4', 'PGAM2', 'PROK2', 'MYH8', 'UNG', 'PROKR2', 'SLC1A3', 'AIP', 'NSD2', 'VPS37A', 'PCNT', 'CRTAP', 'LEP', 'PAM16', 'TBCE', 'KRT5', 'RAD54L', 'IKBKG', 'MITF', 'ITPA', 'UBE3C', 'PSAT1', 'SLC44A1', 'SOX3', 'MLH3', 'TMEM43', 'POLR3H', 'KRT14', 'NFIA', 'BVES', 'MYOF', 'GYS1', 'TBX6', 'TMC1', 'BFSP1', 'ACO2', 'ANG', 'RBP4', 'RAB33B', 'NUP133', 'ATXN7', 'KCNQ1OT1', 'PDE3A', 'CTNNB1', 'PICALM', 'SH3GL1', 'LPP', 'MLLT10', 'CEBPA', 'CHIC2', 'TBX4', 'SYNE2', 'C2', 'TBK1', 'EPM2A', 'NDN', 'TBXT', 'GRB10', 'COCH', 'TRMT10A', 'CFAP43', 'EGR2', 'CCDC8', 'OTUD6B', 'ATP6V1E1', 'DYNC2H1', 'SLC1A1', 'KCNA4', 'ARHGAP26', 'PIGF', 'DUSP6', 'SPRY4', 'FGF17', 'SLC38A3', 'SEC24D', 'SHQ1', 'PGAP1', 'MYH2', 'GPC3', 'SULT2B1', 'BAG3', 'RECQL4', 'FLT3', 'FOXE3', 'PLCD1', 'SLC6A5', 'RYR3', 'MAP2K2', 'PDE10A', 'NDUFB11', 'PNPLA1', 'ABAT', 'PCBD1', 'SDR9C7', 'ARSK', 'ADCY5', 'GABRA2', 'SQSTM1', 'QDPR', 'CLCF1', 'B3GAT3', 'KRT6A', 'MDFIC', 'CLCN5', 'FHL1', 'CHCHD10', 'PLEC', 'PPM1K', 'SERPINH1', 'EFEMP2', 'TK2', 'HSPG2', 'MYL1', 'LAMTOR2', 'SLC22A18', 'ANXA11', 'RAD50', 'DCAF17', 'PRDM6', 'TRU-TCA1-1', 'FOXE1', 'IL31RA', 'PRKCZ', 'KCNAB2', 'PDPN', 'MMP23B', 'LUZP1', 'UBE4B', 'CASZ1', 'PTEN', 'ALDH5A1', 'FBLN5', 'DST', 'LINGO1', 'KIAA0586', 'GNRH1', 'DLX3', 'NFATC2', 'GSX2', 'PTS', 'MYOZ2', 'MTRFR', 'DSP', 'IL17RC', 'MTHFS', 'FBN1', 'MED23', 'STAMBP', 'SPG7', 'COPA', 'HPCA', 'BLOC1S5', 'IGF2', 'SLC35D1', 'MYO6', 'FXN', 'TUBB8', 'GABRA3', 'PSMD12', 'LIFR', 'GFAP', 'GJB3', 'MOG', 'USP7', 'CD320', 'HEPACAM', 'ANGPT2', 'PIBF1', 'TBX5', 'PLCB1', 'KY', 'DALRD3', 'HAX1', 'RNPC3', 'BMPER', 'ARSA', 'CCNF', 'SLC12A2', 'RXYLT1', 'GALNT3', 'CYP4F22', 'CPLX1', 'MARS2', 'TREM2', 'SLC6A3', 'TRAF3IP2', 'CCDC78', 'TRAPPC4', 'LDB3', 'PLAA', 'CLCN1', 'ERBB4', 'CIT', 'TLK2', 'CLN3', 'HTRA1', 'MAFA', 'PTPRQ', 'CD4', 'INAVA', 'RAD54B', 'POPDC3', 'ARHGEF10', 'ABCA2', 'FBXW11', 'MEGF10', 'MRPS25', 'CENPJ', 'MCOLN1', 'ANO5', 'LTBP2', 'MT-ATP8', 'MYH7', 'LDHD', 'CHD3', 'GRIA1', 'RNASEH1', 'DSE', 'GABRD', 'RAB23', 'GIGYF2', 'ACADSB', 'SPTBN1', 'STIL', 'BRAF', 'CHCHD2', 'LTBP3', 'EXOSC9', 'ATP6V0A2', 'TACR3', 'SLC30A2', 'HS6ST1', 'MECP2', 'HSD3B2', 'CCDC88A', 'NSRP1', 'ATP11A', 'ATP13A3', 'MTOR', 'NEK9', 'CERS3', 'MYMK', 'LAMB2', 'EGF', 'AGTR1', 'AGT', 'ALDH18A1', 'TRIP4', 'DHDDS', 'MAGEL2', 'KLHL7', 'PTDSS1', 'DLX5', 'TSPYL1', 'SH3KBP1', 'D2HGDH', 'PMPCA', 'TOR1AIP1', 'UNC45B', 'SPRED1', 'SNX14', 'LAMA2', 'GLMN', 'CFAP52', 'SPINT2', 'PABPN1', 'TRPM6', 'ASCL1', 'POMGNT2', 'FLNA', 'PPP1CB', 'POLR1D', 'DNMT3A', 'TTPA', 'MPLKIP', 'GPT2', 'B3GALT6', 'PLCH1', 'TCF12', 'QRICH1', 'HLA-DPB1', 'HPSE2', 'CHST14', 'NIPAL4', 'NEK10', 'UVSSA', 'CACNA1C', 'FXYD2', 'GYG1', 'MNX1', 'POLR3F', 'FAM20C', 'FLCN', 'COA3', 'PRX', 'KRT17', 'COL17A1', 'PRODH', 'NUAK2', 'PGK1', 'FRG1', 'CPA6', 'HHAT', 'KNSTRN', 'PIGY', 'PPIB', 'GLRA1', 'AGXT2', 'TRMT1', 'C1S', 'RHOH', 'COL4A2', 'SH3TC2', 'SLC35B2', 'COL6A1', 'PRDX3', 'TBR1', 'PHYKPL', 'OGDHL', 'IVNS1ABP', 'VPS35', 'COL4A1', 'POLR1B', 'CDH23', 'COL4A4', 'ALX4', 'TRAPPC2L', 'NUP62', 'LMAN2L', 'SFTPA1', 'CFAP410', 'MIEF2', 'EPB41L1', 'ZFHX2', 'XYLT1', 'CAPN3', 'KBTBD13', 'PNKP', 'SGCG', 'COLQ', 'REPS1', 'HGSNAT', 'ARSL', 'CRYAB', 'NAA10', 'TUBB6', 'CSF1R', 'SON', 'PPP2R3C', 'SORD', 'ADCY6', 'KMT2C', 'VAPB', 'BUB3', 'CNP', 'SLC4A11', 'NELFA', 'IGF1R', 'FCGR3A', 'WDR26', 'INTU', 'TONSL', 'VCP', 'CRELD1', 'WIPI2', 'TBCK', 'ZMPSTE24', 'XPNPEP3', 'NODAL', 'HNRNPK', 'IFT43', 'SIM1', 'COA5', 'SARS1', 'PIGL', 'CACNA2D1', 'ERCC3', 'GNAI1', 'COA7', 'ASCC1', 'CLCN6', 'MGP', 'RELA', 'AHDC1', 'EIF4G1', 'ERGIC1', 'SNAP29', 'IGSF3', 'KLF6', 'MT-TL2', 'MCPH1', 'SOX10', 'SZT2', 'TNNT1', 'PUS3', 'SGCA', 'CAMLG', 'KIF22', 'EXOC6B', 'CDK8', 'VANGL2', 'OTX2', 'CTNNA3', 'NUS1', 'ACY1', 'SEMA4A', 'EIF2AK4', 'TYK2', 'VPS35L', 'NIPBL', 'HTT', 'PHC1', 'RSPO4', 'PKP1', 'ISG15', 'FIG4', 'ATXN3', 'ANKLE2', 'GNAQ', 'ASNS', 'GJB4', 'PAK1', 'SLC28A1', 'FGF8', 'ERCC2', 'IRF9', 'YIF1B', 'SLC22A12', 'ZNHIT3', 'CDT1', 'NAPB', 'NEPRO', 'RSPRY1', 'PLXNA1', 'SYNJ1', 'DLL3', 'CYFIP2', 'SLC25A12', 'ATP2B2', 'NF1', 'SOX17', 'BAX', 'ANKRD11', 'SVIL', 'DNAAF4', 'PSEN2', 'FZD4', 'SELENON', 'SPRY2', 'RNF170', 'CDON', 'UMOD', 'TBX21', 'TGDS', 'ALOXE3', 'AARS1', 'NECAP1', 'HAAO', 'TRAK1', 'MRTFA', 'DHTKD1', 'ZNRF3', 'AMER1', 'CNKSR2', 'WDR73', 'NADSYN1', 'CASQ1', 'B4GAT1', 'SLC41A1', 'MESP2', 'CLDN10', 'MATN3', 'BLOC1S3', 'MIR140', 'ROBO1', 'CTH', 'GLRA2', 'GNB5', 'PANK2', 'PUS7', 'RAB3GAP1', 'SLC10A7', 'SEMA3A', 'SLC25A46', 'HOXD10', 'HECW2', 'TANC2', 'KCNE5', 'DHPS', 'VPS13B', 'DLK1', 'MEG3', 'RTL1', 'MECR', 'CDC45', 'CDC6', 'FTL', 'OCA2', 'GABRA5', 'CHKB', 'AIMP2', 'SLC16A12', 'ALOX12B', 'SEC23A', 'GNAI2', 'LRRK2', 'PDGFB', 'SH3PXD2B', 'SMAD9', 'CDK4', 'LRP4', 'KCNA2', 'CUL7', 'MBD4', 'CEP135', 'TET3', 'GABRB2', 'FKTN', 'FRMD5', 'COL9A3', 'SLC6A8', 'GRIN2D', 'RIMS2', 'IGFALS', 'NR0B1', 'SLITRK2', 'ARV1', 'FAM149B1', 'FUS', 'PLCG2', 'HR', 'MEOX1', 'IARS2', 'SDHAF1', 'ANTXR1', 'EMILIN1', 'PACS1', 'HCRT', 'RAC3', 'SCN4A', 'KIF1A', 'EXOSC5', 'KDSR', 'PISD', 'CYP26C1', 'PPM1D', 'SLC6A2', 'SCGB3A2', 'MUC7', 'ALOX5', 'CCL11', 'IL13', 'HLA-G', 'CCT5', 'NUTM2B-AS1', 'RELN', 'KCNQ5', 'DPYD', 'SCN1B', 'WDR62', 'GSN', 'FDXR', 'WDFY3', 'METTL5', 'SUPT16H', 'PNPLA6', 'B9D2', 'KCNJ8', 'MASP2', 'TTN', 'ATP2A1', 'DEAF1', 'GLI2', 'TPM3', 'DLL1', 'CCN2', 'CCR6', 'ORC4', 'TMC6', 'FOXC2', 'ACTL6B', 'DNAJB6', 'MOCOS', 'AGBL1', 'HEPHL1', 'CNTNAP2', 'UFC1', 'HNRNPDL', 'WASHC5', 'ANO10', 'IFT52', 'TGM1', 'CENPE', 'SLC6A6', 'DMXL2', 'TGIF1', 'WNT4', 'SLC33A1', 'AFF4', 'DSTYK', 'DNA2', 'B3GLCT', 'CAMK2B', 'OSMR', 'LRIG2', 'LTBP1', 'MIB1', 'VAC14', 'AIFM1', 'MTMR14', 'PPP3CA', 'DCAF8', 'ADH1C', 'SNORA31', 'YWHAG', 'PIGQ', 'SERPINF1', 'CANT1', 'H1-4', 'FOXJ1', 'IFNAR2', 'ACAN', 'COL2A1', 'CD8A', 'RUNX2', 'OBSL1', 'IRF1', 'GSC', 'ADARB1', 'B3GALNT2', 'NOVA2', 'OPA1', 'CEP63', 'POLR1A', 'ADGRE2', 'TH', 'RNU12', 'GOSR2', 'CELF2', 'CHKA', 'ATP5PO', 'PRKG2', 'RERE', 'BARD1', 'KCND3', 'MDM2', 'TMEM106B', 'CDK6', 'AQP4', 'PAPSS2', 'POGLUT1', 'IFNGR2', 'PPP1R15B', 'LARGE1', 'WNT3A', 'KCNJ2', 'ODAD4', 'C8A', 'MFF', 'ORC1', 'RGR', 'H4C9', 'TRAIP', 'HOXD13', 'SPOP', 'TPR', 'EHMT1', 'TRAPPC12', 'DGCR8', 'DGCR6', 'DGCR2', 'ESS2', 'COL10A1', 'ZNF148', 'ZC3H14', 'CYP26B1', 'DDX6', 'SGCB', 'KCNB1', 'GPX4', 'ODAD1', 'CFD', 'IL10RB', 'PSEN1', 'TRAF7', 'SLC12A6', 'GMNN', 'RBBP8', 'PMFBP1', 'TASP1', 'PANX1', 'KRT16', 'ERCC1', 'NEK1', 'FCN3', 'PRKDC', 'HSD17B3', 'GIPC1', 'RPIA', 'C8B', 'SLC26A2', 'DYRK1A', 'RSPO1', 'KCNQ2', 'UBE3B', 'TRIM71', 'ACTG1', 'SASS6', 'SNCAIP', 'SPEN', 'DARS2', 'CRY1', 'TIMELESS', 'ADRB1', 'POMK', 'CPE', 'NCSTN', 'RIPOR2', 'DRD5', 'TSC1', 'CIBAR1', 'TSC2', 'TIAM1', 'COL4A6', 'HOXA1', 'IL7', 'PYROXD1', 'PTPN23', 'NUP188', 'SYNE1', 'DYNLT2B', 'NME5', 'KDM3B', 'FOLR1', 'RNF113A', 'RAD21', 'MT-ND4L', 'MSTN', 'CRADD', 'CACNA1I', 'ACTA1', 'C6', 'TRAPPC14', 'ADAT3', 'SMARCC2', 'TTC12', 'FGF12', 'NRCAM', 'KIAA0753', 'GJA5', 'DNAAF2', 'IGHG2', 'SP6', 'TOGARAM1', 'ASPN', 'LMX1B', 'GLS', 'SETD2', 'MMP9', 'MAP3K20', 'PRPS1', 'KMT2D', 'NTRK2', 'LFNG', 'HCFC1', 'MTMR2', 'HOXA2', 'PPP1R21', 'TBC1D23', 'ACE', 'CAMSAP1', 'MAPK8IP3', 'SCN3A', 'POLR3A', 'ADGRL1', 'MDH1', 'DBR1', 'BRF1', 'CNGA1', 'CDK19', 'SIX3', 'ALKBH8', 'STAC3', 'GLUL', 'RIPPLY2', 'ZFHX4', 'WBP2', 'POU4F3', 'EPS8L2', 'TDRD7', 'LMX1A', 'SERPINB6', 'KHDC3L', 'UROC1', 'ARR3', 'HOMER2', 'GAB1', 'GRAP', 'PJVK', 'OTOA', 'TBL1Y', 'SPNS2', 'SLC26A5', 'GJA3', 'ING1', 'TNFRSF10B', 'GCNT2', 'SIPA1L3', 'CASP14', 'GSDME', 'ADCY1', 'HGF', 'C3orf52', 'TLE6', 'MST1R', 'A2ML1', 'ANXA5', 'TCTN1', 'ZIC2', 'MFN2', 'RILPL1', 'KAT8', 'RNF220', 'HOGA1', 'IRF7', 'ITGA6', 'GDAP1', 'NALCN', 'SYT2', 'ATP6V1A', 'CYP11B1', 'GHRHR', 'POLR1C', 'GAS2L2', 'HAND2', 'TMPO', 'FHL2', 'TAF1A', 'ANKRD1', 'CAP2', 'EXTL3', 'APP', 'NDNF', 'MYOCD', 'GCH1', 'SUN5', 'SLC13A5', 'TMEM107', 'DACT1', 'CHMP2B', 'GUCY2D', 'ORC6', 'MYBPC1', 'SLC5A6', 'CHRND', 'HEXA', 'PITX3', 'KCNK18', 'SMARCC1', 'KDR', 'JPH3', 'SPEF2', 'ATP2B1', 'GZF1', 'GAS8', 'C7', 'PLCB3', 'CLDN9', 'AP3B2', 'TRIM36', 'OFD1', 'PER3', 'AOPEP', 'PIGP', 'DRD4', 'EED', 'FGF20', 'ANK3', 'SOHLH1', 'TOPORS', 'EXT1', 'KLHL40', 'ODAPH', 'SCP2', 'WDR72', 'SLC25A32', 'ODAD2', 'KATNB1', 'CDH15', 'CRYBB1', 'ARNT2', 'FZR1', 'MSTO1', 'FUZ', 'WASF1', 'ACBD5', 'CHRNG', 'NFIX', 'PYCR2', 'CCNO', 'KIF2A', 'CNOT2', 'EDN1', 'SIK1', 'GPC4', 'MPZ', 'HES7', 'PTHLH', 'RDH5', 'SLC6A19', 'KLHL41', 'CCDC103', 'MYH14', 'RAI1', 'JAG2', 'VANGL1', 'GPRC5B', 'SOX5', 'KCNN3', 'TUSC3', 'PIKFYVE', 'MSX2', 'POGZ', 'AMT', 'CAPN5', 'MAP3K7', 'TNRC6A', 'TCOF1', 'JUP', 'CTSB', 'GFPT1', 'SASH1', 'DNAH5', 'HRAS', 'ERCC5', 'ALS2', 'CHST11', 'PRKD1', 'STK36', 'DNAJB13', 'DNAH9', 'GPR68', 'FLII', 'AMTN', 'PRUNE1', 'IMPA1', 'DCPS', 'CCDC141', 'RNF135', 'ATIC', 'C1QA', 'COLGALT1', 'LMNB1', 'BET1', 'TAT', 'SRRM2', 'NME8', 'PDE6G', 'CPLANE1', 'TGFBR3', 'ANGPTL6', 'TAF2', 'RSPH1', 'ASH1L', 'KANSL1', 'ROM1', 'RBP3', 'NEMF', 'TUBB4A', 'GRHL2', 'PER2', 'GFRA1', 'BCL11B', 'FLNB', 'NTHL1', 'LRRC56', 'NLGN4X', 'LMOD3', 'GDF3', 'LITAF', 'TSPOAP1', 'RAPGEF2', 'RAC1', 'CCDC88C', 'GBF1', 'COL11A2', 'BIN1', 'ASPRV1', 'ZEB2', 'DAG1', 'KCNH1', 'PIGV', 'VPS41', 'NDE1', 'TSEN34', 'SPTAN1', 'XRCC3', 'NQO2', 'PHB1', 'RB1CC1', 'HMMR', 'CFAP300', 'L2HGDH', 'PI4KA', 'MXI1', 'COX6A1', 'MCIDAS', 'DNAI2', 'MYH3', 'RTTN', 'RRP7A', 'DCX', 'DDHD2', 'CRYAA', 'SALL1', 'PADI6', 'ATP2C1', 'C9', 'TMIE', 'OSBPL2', 'TMEM132E', 'PLS1', 'CLRN2', 'CRYM', 'SLC17A8', 'PPIP5K2', 'CABP2', 'EPHA10', 'SCD5', 'PRIMPOL', 'MLC1', 'TRPA1', 'FGF5', 'MYO3A', 'UBIAD1', 'TOP6BL', 'EPS8', 'CPSF1', 'PRICKLE3', 'DNAAF1', 'ZNF644', 'SLC39A5', 'BDP1', 'MINAR2', 'DSG3', 'S1PR2', 'ROBO2', 'ACTL9', 'ZP2', 'PLCZ1', 'ACR', 'MARVELD2', 'NLRP5', 'MYO15A', 'ZP3', 'RDX', 'NLRP2', 'ASTL', 'TRIOBP', 'TMEM216', 'RNASEL', 'RSPH4A', 'DPYSL5', 'TPM2', 'RAB5IF', 'KIAA0825', 'CACNA1B', 'FOXD3', 'FGD4', 'ZNF408', 'ANKRD17', 'FLG', 'PCNA', 'FAM83H', 'SCYL2', 'LGR4', 'VPS13D', 'PIP5K1C', 'RSPH9', 'CAMK2A', 'EIF2B1', 'SLC1A2', 'NIN', 'GNB1', 'CYLD', 'GRHPR', 'NECTIN4', 'SETD1A', 'LARP7', 'IFNAR1', 'CACNG2', 'PTGER2', 'YY1', 'EDC3', 'ACTB', 'SNRPN', 'TLR2', 'ITGA8', 'SLC25A22', 'GJC2', 'SPAG1', 'CCDC65', 'DNAAF11', 'CFAP74', 'ZNF711', 'KMT2B', 'DNAI1', 'BRPF1', 'IQCE', 'TRIM2', 'RDH12', 'GPSM2', 'SMC3', 'SYT14', 'PDE8B', 'CCND2', 'H6PD', 'PDE6D', 'TRAPPC10', 'FOXP2', 'EMD', 'TPRN', 'TSHZ1', 'DKK1', 'RSPH3', 'COL12A1', 'PIK3R2', 'TELO2', 'PCLO', 'IRF3', 'KIRREL1', 'DNAAF3', 'IHH', 'NRROS', 'BICRA', 'TBX3', 'DDX3X', 'NHLRC1', 'AMHR2', 'AMH', 'SNRPB', 'CENPF', 'CSGALNACT1', 'DCC', 'CEP250', 'KRT3', 'FIBP', 'TPRKB', 'SMARCA4', 'GNB4', 'AUTS2', 'DNM1', 'DDB2', 'MMP20', 'DNAH1', 'TP53RK', 'TCF20', 'MAD1L1', 'CDK5RAP2', 'CCDC40', 'SLC26A1', 'ADD3', 'AURKA', 'PLA2G2A', 'PTPN12', 'MCC', 'DLC1', 'TPH2', 'RELT', 'RP1L1', 'ATR', 'MYF5', 'CLN5', 'RAPSN', 'CDSN', 'TM4SF20', 'GATA3', 'RP1', 'SMO', 'PINK1', 'SNCB', 'UBA5', 'SLC13A3', 'PIGW', 'IFT81', 'DHX16', 'NR2E3', 'OXR1', 'CCL2', 'TMEM218', 'BRAT1', 'LDHB', 'DNAH11', 'ZBTB42', 'TBCD', 'CHRNB1', 'ZNF750', 'GRN', 'PRCC', '-', 'PRRX1', 'GTPBP2', 'TECPR2', 'CHST6', 'GAN', 'NLGN1', 'SLC52A2', 'SPEG', 'CHRNA1', 'FMN2', 'LAMA1', 'CLCN3', 'RPGRIP1', 'LIPN', 'GPC6', 'POP1', 'PHIP', 'PLA2G5', 'LOXHD1', 'BFSP2', 'GRXCR1', 'KCNQ4', 'LHFPL5', 'CLDN14', 'MSRB3', 'PDE1C', 'LIM2', 'ATOH1', 'MEI1', 'NLRP7', 'HARS2', 'OTOGL', 'TMPRSS3', 'ILDR1', 'ESRP1', 'CSNK1D', 'INSL3', 'GREM2', 'CHMP4B', 'GLIS2', 'KPNA7', 'MOS', 'FYCO1', 'SPATA16', 'ZFP36L2', 'KDM5D', 'PRY2', 'XKRY', 'CDY2A', 'CDY1', 'VCY', 'HSFY1', 'BPY2', 'PRY', 'RPS4Y2', 'SLC26A8', 'DPY19L2', 'CCDC62', 'ZPBP', 'TSGA10', 'GGN', 'MPZL2', 'ZP1', 'CDC20', 'STUB1', 'SYN1', 'WARS1', 'ARL3', 'ZNF292', 'POLA1', 'HCN1', 'FOXG1', 'UGP2', 'DNAAF5', 'UBE3A', 'UBE4A', 'TMEM53', 'ODAD3', 'TMEM237', 'NR5A1', 'VPS13C', 'TCTN2', 'RBM28', 'CFL2', 'DLG4', 'GPR88', 'CEP120', 'CLTC', 'GRIN1', 'ROR1', 'PIGO', 'AMBN', 'OXGR1', 'CRIPTO', 'FOXH1', 'DISP1', 'GAS1', 'SLC6A4', 'SNCA', 'PIK3CA', 'HSPB8', 'WAC', 'UBR7', 'PLCB4', 'HCN2', 'WNT3', 'NEUROD2', 'REEP2', 'B9D1', 'SMN2', 'AKT3', 'SATB1', 'EP300', 'CLPP', 'AP5Z1', 'STAG2', 'PPP2R1A', 'INTS8', 'CFAP298', 'EIF2B5', 'TRAPPC6B', 'SLC16A2', 'MSH3', 'KCNC2', 'OTOG', 'EML1', 'HYAL1', 'GDF6', 'DRC1', 'EXOC2', 'GON7', 'PLA2G6', 'MYOD1', 'SHH', 'ASPM', 'APC', 'FLVCR1', 'SPG11', 'FRA10AC1', 'PRDM12', 'SHANK3', 'CTSC', 'HYDIN', 'KCNMA1', 'CDH2', 'ODC1', 'TECR', 'PPARGC1A', 'UNC13A', 'EPHA4', 'DAO', 'PON3', 'GLT8D1', 'PON2', 'PON1', 'ANAPC7', 'SLC25A24', 'WWOX', 'TRAPPC9', 'DISC2', 'APOL4', 'APOL2', 'CHI3L1', 'RTN4R', 'DAOA', 'SYN2', 'KIF5A', 'ZBTB18', 'OTOF', 'KNL1', 'XRCC1', 'MED13', 'SEPSECS', 'GNAO1', 'GLDN', 'MCTP2', 'ATP1A2', 'MACF1', 'AMMECR1', 'CHD4', 'SIGMAR1', 'CDK10', 'ATAD1', 'AQP5', 'ATG7', 'GLRB', 'MED27', 'HMCN1', 'GDF9', 'PRMT7', 'XPC', 'GRM1', 'SLITRK1', 'RAX2', 'CREBBP', 'TAF15', 'PLEKHG2', 'PARK7', 'PKDCC', 'SLC39A14', 'LRP12', 'TRPC3', 'NOTCH3', 'SRD5A2', 'KCNK9', 'C1R', 'TTBK2', 'CLN6', 'TCTN3', 'DYSF', 'OPCML', 'PPP2R1B', 'MAP3K8', 'SRGAP1', 'TNIK', 'PPT1', 'DNAJC5', 'ESRRB', 'ACKR3', 'CCDC50', 'DIP2B', 'LRPAP1', 'PNKD', 'MMP19', 'GRXCR2', 'MIR96', 'EPHA2', 'ABCC1', 'SOX2', 'TEAD1', 'LRTOMT', 'ASB10', 'SLC44A4', 'CLIC5', 'PI4KB', 'P2RX2', 'CD164', 'TNC', 'LOXL3', 'MCM2', 'AKR1C4', 'AKR1C2', 'TUBA3D', 'ADAM10', 'SERPINB8', 'SLITRK6', 'KRT6C', 'BTG4', 'SELENBP1', 'HSF2BP', 'CRYGB', 'MIP', 'VIM', 'AVIL', 'TMEM151A', 'SYCP2', 'BRDT', 'AURKC', 'SPINK2', 'SYNE4', 'SLC24A4', 'EIF2B3', 'PAK2', 'GRM7', 'PRKN', 'CCDC39', 'GDI1', 'MEIS2', 'MME', 'CHD8', 'FAT2', 'MAST1', 'PTCH2', 'FEZF1', 'CAPN15', 'SBF1', 'HERC1', 'TRIO', 'SCUBE3', 'CRB1', 'PGAP3', 'SSBP1', 'EFTUD2', 'CTSD', 'IQSEC1', 'CCNQ', 'CRPPA', 'ZBTB11', 'ADAMTSL4', 'CHMP1A', 'MED11', 'RBM12', 'CHUK', 'GRIN2B', 'KMT2A', 'ATP1A3', 'ZMYND10', 'KCNA1', 'SEMA3E', 'KCNJ6', 'SMOC1', 'SLC25A1', 'CC2D1A', 'LAMC3', 'KIF5C', 'COL9A2', 'PSMB1', 'CUX1', 'ZNF423', 'EBP', 'RGS9', 'MAB21L2', 'PAFAH1B1', 'KLK4', 'DPH1', 'SIN3A', 'GLDC', 'C1QC', 'COMP', 'ACP4', 'PPP2CA', 'ADAMTS17', 'CCDC22', 'PRPF3', 'KIDINS220', 'AP1G1', 'SERPINI1', 'LRRC32', 'MYT1L', 'AFG3L2', 'NR4A2', 'ZFYVE27', 'ZMIZ1', 'GDAP2', 'HNRNPH2', 'DNAL4', 'GAMT', 'POU4F1', 'WDR37', 'MFSD8', 'RAB7A', 'XPA', 'HFM1', 'PRDM13', 'POFUT1', 'VAX1', 'MYOT', 'BMP4', 'ISCA2', 'ZNF141', 'TRPV4', 'TUBB2A', 'FLVCR2', 'MFSD2A', 'C12orf57', 'PLD3', 'KCNT1', 'AMFR', 'CSNK2B', 'PUF60', 'ATL3', 'RPS6KA3', 'FXR1', 'ENTPD1', 'TSEN15', 'MCM3AP', 'NKX2-1', 'COLEC10', 'EDAR', 'AHSG', 'KITLG', 'TMX2', 'MYMX', 'YRDC', 'FGFR1', 'ALG14', 'SRCAP', 'CEP41', 'GREB1L', 'GIPC3', 'RORA', 'EXPH5', 'KAT6B', 'THOC1', 'MVD', 'MIR204', 'DIABLO', 'PANK4', 'MAPKAPK3', 'TCHH', 'HSF4', 'CRYBA1', 'CDC14A', 'CRYGS', 'SEPTIN12', 'CEP112', 'MAFB', 'TEKT3', 'CFAP70', 'DNAH2', 'IQCN', 'M1AP', 'KCNU1', 'REC114', 'CATSPER1', 'ACTL7A', 'DNALI1', 'CFAP44', 'CFAP69', 'MASP1', 'FBXO28', 'BICD2', 'EIF4A3', 'KIF26A', 'GCNA', 'NOTCH2NLC', 'CTSF', 'POF1B', 'HDC', 'NEK2', 'ERLIN2', 'VSX2', 'SLC6A9', 'NDST1', 'DDR2', 'WLS', 'PIEZO2', 'PERP', 'FAM50A', 'EEF1A2', 'AGO1', 'HNRNPR', 'CFHR5', 'CLN8', 'NARS1', 'LMBR1', 'TSEN2', 'DPH5', 'GABRB1', 'ATP5MC3', 'MEGF8', 'STEEP1', 'BLTP1', 'NEFL', 'WBP11', 'SLC19A3', 'HTR2A', 'CRBN', 'KDM5B', 'PSENEN', 'AR', 'KLF13', 'POMT2', 'ARL6IP1', 'ADAM9', 'GRHL3', 'KRT12', 'SLC35A3', 'FOXI1', 'TRIM8', 'EIF2B2', 'ASXL3', 'TTI2', 'CLDN19', 'ZSWIM6', 'KLC2', 'RAB11B', 'NCDN', 'COPB1', 'GJA8', 'NSDHL', 'PRKCG', 'UBQLN2', 'KCNJ3', 'PMP2', 'DIAPH3', 'GAL', 'SETBP1', 'COL9A1', 'CWC27', 'PCARE', 'AHR', 'FAM161A', 'PDE6A', 'GUCA1B', 'CNGB1', 'SNRNP200', 'FSCN2', 'NTN1', 'UCHL1', 'PRKRA', 'APC2', 'TTC19', 'PRKAR1B', 'THOC2', 'SIX6', 'TAP2', 'TAP1', 'TAPBP', 'DDHD1', 'KATNIP', 'EXOSC1', 'MAPKBP1', 'TMEM163', 'PCYT1A', 'ZNF462', 'FLG2', 'CTU2', 'PGAP2', 'ATP6V1B2', 'DDX11', 'RIC1', 'KRT9', 'ELOVL5', 'FAM13A', 'KDM1A', 'MAN2C1', 'TP73', 'TNRC6B', 'TSEN54', 'FAR1', 'RBL2', 'BAP1', 'BPNT2', 'DNAH7', 'HOXB1', 'MARK3', 'DPH2', 'CRYBA2', 'MED12L', 'GNAT1', 'DARS1', 'FGF9', 'CLEC3B', 'FRMD7', 'ARL2', 'MYF6', 'NONO', 'NOBOX', 'CFAP65', 'AKAP3', 'CFAP58', 'SPACA1', 'QRICH2', 'KAT6A', 'CEP104', 'CLP1', 'MEF2C', 'ARHGEF18', 'KCNK4', 'WNT7A', 'MLPH', 'CNOT3', 'ITGB6', 'FKRP', 'KANK2', 'SLC18A2', 'SMOC2', 'UNC119', 'CEP55', 'ARMC9', 'FMR1', 'CHAMP1', 'POLR3GL', 'PRNP', 'PRCD', 'CERKL', 'BHLHA9', 'SLC2A3', 'AKT1', 'FITM2', 'KCNC1', 'TBC1D7', 'ATXN2', 'SLC27A4', 'TACO1', 'LAMB1', 'IGF2R', 'MN1', 'CNTNAP1', 'CHRNE', 'MYO18B', 'AAGAB', 'IQSEC2', 'POMT1', 'NUP54', 'IRF2BPL', 'ARFGEF1', 'GNB3', 'HMGB3', 'TBC1D24', 'NEB', 'ZFPM2', 'TAF8', 'PTCH1', 'TUBG1', 'SEMA6B', 'AIPL1', 'CLCC1', 'GM2A', 'RGS9BP', 'FOXI3', 'FBXL3', 'HYCC1', 'CKAP2L', 'MESD', 'KDM5C', 'PDE6B', 'FERRY3', 'COL27A1', 'MAPK1', 'GABBR2', 'MCM8', 'EYS', 'IDH3B', 'CD151', 'CYP2U1', 'THG1L', 'ADNP', 'TMEM94', 'PTPA', 'ADSS1', 'DNMT1', 'LHCGR', 'TDO2', 'EIF2B4', 'ITM2B', 'ZEB1', 'ZFHX3', 'MED25', 'SUZ12', 'SEMA5A', 'TPP1', 'GRIP1', 'CRX', 'ZNF142', 'TENM4', 'DAB1', 'SET', 'PCDH12', 'DLG3', 'DICER1', 'RP9', 'TUBB', 'DRD3', 'HKDC1', 'TUFT1', 'SLC17A9', 'FZD6', 'DNMBP', 'FDPS', 'ELP4', 'HRURF', 'ADGRG2', 'CTNNA1', 'PATL2', 'VWA3B', 'ERAL1', 'TTC29', 'TTC21A', 'DNAH8', 'CFAP251', 'AK7', 'DSC3', 'GDF11', 'NOL3', 'GNAL', 'DLX4', 'SIAH1', 'POLH', 'SNORD118', 'KIAA1549', 'ATG5', 'VWA1', 'KIF7', 'ATCAY', 'NSD1', 'KCNJ13', 'GJA1', 'EIF2AK1', 'EIF2AK2', 'COL25A1', 'SOX9', 'TNNT3', 'CDHR1', 'AGBL5', 'SLC7A14', 'PRPF6', 'ZNF513', 'RNASET2', 'TMEM231', 'FAM20A', 'PAX7', 'PAICS', 'DNAJB2', 'DLEC1', 'FGFR2', 'SLC7A6OS', 'IFT57', 'ERLIN1', 'EXOC7', 'ROBO3', 'LRMDA', 'ZNF407', 'COQ6', 'SATB2', 'COL6A2', 'SPG21', 'ATXN8', 'POLR3B', 'ATXN8OS', 'GEMIN5', 'ELP2', 'DNAJC12', 'MYO5A', 'CDK13', 'PHKA1', 'MBOAT7', 'BMPR1B', 'CACNA1E', 'MINPP1', 'PPP2R5D', 'TRPS1', 'GMPPA', 'HNRNPU', 'ABHD16A', 'BNC2', 'MAK', 'PRPF4', 'MERTK', 'DHX38', 'NDRG1', 'UQCRC1', 'FGF13', 'NANS', 'UGDH', 'TMC8', 'SMG9', 'NANOS1', 'RNF212', 'SYCP3', 'TEX14', 'PRICKLE1', 'TMEM63A', 'CCDC174', 'PITX1', 'H4C5', 'AHI1', 'PCYT2', 'RSRC1', 'BEST1', 'SLC5A7', 'PRPF31', 'TXNL4A', 'CRYGD', 'GPNMB', 'ADAMTS18', 'VWA8', 'MIR184', 'PMVK', 'WEE2', 'RBMY1A1', 'DAZ2', 'DDX3Y', 'DAZ1', 'DAZ3', 'USP9Y', 'ARMC2', 'ATP1A1', 'DNAH17', 'SSX1', 'FSIP2', 'MAPT', 'TACSTD2', 'RBMX', 'COL11A1', 'TMCO1', 'CBX2', 'RCBTB1', 'CADM3', 'FBLN1', 'NLGN3', 'TGM5', 'POR', 'PDE4D', 'MAP3K1', 'LOXL1', 'KCNT2', 'REEP6', 'PDE6H', 'CLRN1', 'RNF6', 'MAST3', 'NDP', 'POMGNT1', 'RFX7', 'IMPG2', 'CEP152', 'EDEM3', 'CHD1', 'KIZ', 'KRT83', 'ATP8A2', 'VAMP2', 'DHODH', 'ADGRG1', 'DCN', 'DRAM2', 'OPN1SW', 'DCT', 'WNK3', 'SPART', 'ROGDI', 'AXIN1', 'DNAJC6', 'DOCK3', 'SHMT2', 'SEPTIN9', 'SLC1A4', 'FBXO7', 'NBEA', 'TUBGCP4', 'CACNA1A', 'IRF6', 'CNTN2', 'CA8', 'ADPRS', 'FREM1', 'IDH3A', 'HS2ST1', 'DNAJC13', 'LAMP2', 'SETD5', 'CAPN1', 'TERB2', 'PNLDC1', 'MOV10L1', 'TERB1', 'SPAG17', 'MEIOB', 'SF3B4', 'AP4E1', 'TMEM63C', 'GATAD2B', 'ACSL4', 'WDR45B', 'EXOC8', 'SLC9A6', 'HDAC9', 'HECTD4', 'SLC9A1', 'DHX30', 'DDX59', 'CHP1', 'SMG8', 'RAX', 'TRIM44', 'SMARCD1', 'CRYBA4', 'KERA', 'P3H2', 'CFAP91', 'FBXO11', 'COL8A2', 'CEP85L', 'METTL23', 'SAG', 'TAF4B', 'ARID2', 'DOK7', 'PSMC3', 'SPTLC1', 'HINT1', 'SOBP', 'RORB', 'PITX2', 'USP45', 'BEAN1', 'CTNNA2', 'TNNI2', 'HDAC8', 'ZMYND11', 'ARID1A', 'ZDHHC9', 'SHOC1', 'MAMLD1', 'SMPD4', 'USP9X', 'DONSON', 'RANGRF', 'SLMAP', 'REEP1', 'TUB', 'ARID1B', 'ABCA4', 'ACER3', 'KCNV2', 'KIF14', 'SALL4', 'RTN2', 'BRD4', 'COL6A3', 'HCCS', 'ECEL1', 'RSPO2', 'RD3', 'PMP22', 'GPR101', 'MUSK', 'COQ5', 'CHRNA7', 'NRL', 'PHACTR1', 'SACS', 'HYLS1', 'KLK11', 'VARS1', 'TMEM222', 'HSPB3', 'MRE11', 'THUMPD1', 'CNPY3', 'SLC45A1', 'HOXC13', 'IL11RA', 'SMARCA2', 'MBTPS2', 'FRMD4A', 'HDAC4', 'TWIST1', 'PRPF8', 'CTNND2', 'PGM2L1', 'ZFYVE26', 'STXBP1', 'WASHC4', 'SLURP1', 'KLHL10', 'PDHA2', 'RPL10L', 'TEX15', 'RTN4IP1', 'TMEM126A', 'TBP', 'MTSS2', 'SOX4', 'EMC10', 'RALGAPA1', 'PDCD6IP', 'EIF3F', 'STARD7', 'USP26', 'OAT', 'CERS1', 'POU3F3', 'PADI3', 'TGM3', 'LTV1', 'SALL2', 'SNRPE', 'CFAP61', 'ARX', 'EZH2', 'AXL', 'SRA1', 'OPA3', 'SCN8A', 'SETD1B', 'SPTBN2', 'H4C11', 'SPTLC2', 'ANOS1', 'FBXO38', 'ADAM22', 'KCNC3', 'ARL2BP', 'PROM1', 'SYT1', 'DSPP', 'FGFR3', 'TFAP2A', 'KDF1', 'WNT10B', 'PLK4', 'CST6', 'MPDZ', 'MAPRE2', 'HARS1', 'PITPNM3', 'SLC24A5', 'SRPX2', 'GRIA2', 'YEATS2', 'KCTD7', 'PUM1', 'C14orf39', 'KIF1C', 'TGM6', 'VAMP1', 'PDZD8', 'GNAI3', 'IMPDH1', 'SNAP25', 'GBA2', 'NR2F1', 'SLC52A3', 'TBC1D2B', 'ANO3', 'ZMYM2', 'NUP88', 'C2CD3', 'EEF2', 'SUFU', 'NFIB', 'TDRD9', 'ZIC1', 'CLDN11', 'LNPK', 'SYNGAP1', 'RPGR', 'BRWD1', 'ATN1', 'DYNC1I2', 'PDYN', 'PDXK', 'NOP56', 'CIB1', 'DHX37', 'NRIP1', 'PRSS56', 'TMEM98', 'KREMEN1', 'CRYBB2', 'CPAMD8', 'CAMK2G', 'QARS1', 'TTI1', 'TNR', 'THAP1', 'SAMD12', 'THOC6', 'SGCE', 'DPF2', 'KIFBP', 'COASY', 'NPTX1', 'ST3GAL3', 'DDB1', 'KPNA3', 'GJB2', 'PIGN', 'TUBGCP6', 'MYO7A', 'CTNND1', 'MYO9A', 'TRIP12', 'EFHC1', 'ZMYND15', 'CAMTA1', 'ITPR1', 'MYOC', 'CACNA2D2', 'FGD1', 'MFRP', 'TRRAP', 'VPS16', 'CFAP221', 'ROR2', 'SMARCE1', 'MARCHF6', 'TBX18', 'CT55', 'TMEM147', 'CTSH', 'P2RY11', 'CHAT', 'CDH1', 'UBE2A', 'TLCD3B', 'CDC42BPB', 'ABCA7', 'MBD5', 'GLI3', 'HSPB1', 'AAAS', 'RFC1', 'RUBCN', 'APCDD1', 'H3-3A', 'ADSL', 'SELENOI', 'VCAN', 'SLC38A8', 'PTPRF', 'COX7B', 'LRAT', 'LRP2', 'DUX4', 'DUX4L1', 'NTNG2', 'SVBP', 'CACNA1H', 'ADGRG6', 'ALDH3A2', 'PRDM8', 'INTS1', 'ATL1', 'CLTCL1', 'RAB28', 'TTLL5', 'ZNF365', 'TMEM138', 'GDF5', 'NF2', 'RPE65', 'CSTA', 'TULP1', 'HUWE1', 'SOX11', 'DHH', 'GRID2', 'TBX15', 'TBX22', 'USH2A', 'IMPG1', 'RP2', 'KCNQ3', 'GJB6', 'NT5C2', 'FBXO43', 'CCDC34', 'COLEC11', 'SF3B2', 'TSPEAR', 'RHO', 'RLBP1', 'AP4M1', 'LRP1', 'KCTD17', 'AGRN', 'CPT1C', 'NIPA1', 'KRT85', 'ATXN10', 'GMPPB', 'COL18A1', 'ADGRV1', 'UBAP1', 'SCN2A', 'AP4B1', 'MAN1B1', '-', 'PXDN', 'MICAL1', 'SERPINB7', 'STRC', 'CATSPER2', 'SPECC1L', 'CCNK', 'SMN1', 'CILK1', 'SMARCB1', 'RPL10', 'CHRNB2', 'EMC1', 'ELOVL4', 'RALA', 'CRYGC', 'SLC18A3', 'MSL3', 'GRIK2', 'CHD5', 'CLIC2', 'ALDH1A3', 'COL13A1', 'MSX1', 'SOX6', 'FGF10', 'TOE1', 'GABRG2', 'USF3', 'NECTIN1', 'DNAH10', 'BCAS3', 'AFG2B', 'ECM1', 'KIF11', 'TUBGCP2', 'STX1B', 'PHOX2A', 'TCEAL1', 'TAF6', 'PAX1', 'ERF', 'PPP2R2B', 'DNAAF6', 'PPP1R12A', 'NPRL2', 'LGI4', 'PDE2A', 'TRPM3', 'HOXA13', 'TBC1D20', 'DYNC1H1', 'RNF216', 'YAP1', 'EPS8L3', 'HID1', 'NPRL3', 'MSH5', 'ALX3', 'ALX1', 'NKX6-2', 'SRY', 'FA2H', 'SIX2', 'MAF', 'TAF1', 'FBXO31', 'LMBRD2', 'STAG3', 'RAB3GAP2', 'SLC32A1', 'SYCE1', 'CATIP', 'WDR81', 'AP4S1', 'TRANK1', 'ARHGEF2', 'NXN', 'VLDLR', 'EXOSC2', 'TUBB2B', 'USH1G', 'PIDD1', 'ABHD12', 'TUBB4B', 'DOCK7', 'ATP13A2', 'CAST', 'KLLN', 'OVOL2', 'GARS1', 'TYRP1', 'ATOH7', 'PCDHGC4', 'SCARF2', 'PQBP1', 'TFAP2B', 'DVL3', 'SBF2', 'POC1B', 'TUBB3', 'CHRNA4', 'RDH11', 'CERT1', 'SMC1A', 'RPS23', 'UPF3B', 'MTPAP', 'ESPN', 'ZNF526', 'KCTD1', 'XPNPEP2', 'DNHD1', 'SLC6A17', 'KLHL9', 'SMCHD1', 'NKAP', 'DSG4', 'KDM6B', 'LHB', 'GAD1', 'SLC24A1', 'CYP3A5', 'PTGIS', 'ADD1', 'ATP1B1', 'RGS5', 'PURA', 'FZD2', 'FREM2', 'SHROOM4', 'PLP1', 'CACNA1G', 'CNNM4', 'LAGE3', 'B4GALNT1', 'CWF19L1', 'TTC5', 'CLTRN', 'BRCC3', 'CRKL', 'KIF21A', 'CIB2', 'ST14', 'FOXC1', 'CUX2', 'ABCA5', 'ASPH', 'KRT74', 'FRAS1', 'CHM', 'DENND5A', 'PAX3', 'RPL21', 'SIX5', 'KRT25', 'TRPV3', 'CDKL5', 'TUBA1A', 'SMS', 'VSX1', 'CHSY1', 'FGF14', 'LSS', 'CDH11', 'PORCN', 'EIF2S3', 'CHRNA2', 'EDARADD', 'RUSC2', 'KRT71', 'ELOVL1', 'GPR179', 'FSHB', 'SPATA7', 'GRIN2A', 'SLC45A2', 'USH1C', 'NOG', 'MORC2', 'LORICRIN', 'MAB21L1', 'TENM3', 'CDH3', 'KAT5', 'KCNN2', 'CSTB', 'CYP4V2', 'CACNA1F', 'ATXN1', 'TRPM1', 'LRIT3', 'MAG', 'WHRN', 'NMNAT1', 'SCN1A', 'LGI1', 'CACNA2D4', 'MSN', 'SPAST', 'PCDH15', 'RHOBTB2', 'KRT86', 'KRT81', 'WDR45', 'ZFTA', 'CHN1', 'TMEM240', 'PDZD7', 'GNAT2', 'RAB18', 'TIMP3', 'GRM6', 'EFEMP1', 'ARHGAP29', 'COBLL1', 'DLG1', 'ARHGEF38', 'EBF3', 'MED13L', 'DVL1', 'GJB1', 'FGF3', 'FRRS1L', 'TWIST2', 'PHF6', 'CARD14', 'ATF6', 'GPR143', 'TGFBI', 'STS', 'KDM4B', 'VMA21', 'NEXMIF', 'MC1R', 'CACNB4', 'SMARCAD1', 'HDAC6', 'WNT5A', 'SLC6A1', 'PDE6C', 'ISL1', 'ARSG', 'PAX6', 'ATP10A', 'PRPH2', 'GUCA1A', 'CEP78', 'ATRIP', 'PODXL', 'NTNG1', 'CUL4B', 'SCNM1', 'NHS', 'AP2M1', 'GABRB3', 'DEPDC5', 'NUTM1', 'WNT9B', 'MID1', 'CBY1', 'LIPH', 'GRK1', 'RIPK4', 'MCM7', 'CYP1B1', 'MTM1', 'MAOA', 'CNGA3', 'ATP2A2', 'DMRT3', 'VAMP7', 'CEP126', 'AP1S2', 'CLCN4', 'IGBP1', 'JARID2', 'PCDH19', 'PRRT2', 'ZC4H2', 'RLIM', 'CABP4', 'PRR12', 'HMX1', 'CHD2', 'TP63', 'LPAR6', 'C1QTNF5', 'AXIN2', 'PAX9', 'LCA5', 'PRKCH', 'ALOX5AP', 'TYR', 'GABRA1', 'TERF2IP', 'MGMT', 'POU3F4', 'IMPDH2', 'EDA2R', 'CFP', 'UBB', 'SIX1', 'EYA1', 'NIPA2', 'DDIT3', 'BDNF', 'CNGB3', 'YWHAE', 'GRIA3', 'L1CAM', 'CA4', 'IFT88', 'EDA', 'HIC1', 'MIR17HG', 'HLA-C', 'EFNB1', 'REV3L', 'WNT10A', 'CTHRC1', 'MSR1', 'PDK3', 'FOXL2', 'TIMM8A', 'FRZB', 'COL14A1', 'LAS1L', 'TRAF6', 'GPKOW', 'SLC6A20', 'SLC6A18', 'MAGED2', 'BCKDK', 'FLRT1', 'ATP2B3', 'ADAMTSL1', 'RAB39B', 'FRA16E', 'ADORA2A', 'SIN3B', 'ADH1B', 'TAS2R16', 'AK9', 'PBRM1', 'OGG1', 'RNF139', 'IGSF1', 'TAL2', 'TAL1', 'TMLHE', 'PLEKHG4', 'RAD51D', 'CIZ1', 'AFF2', 'IFRD1', 'MACROH2A1', 'SLC9A7', 'IL1B', 'ARHGEF9', 'OPHN1', 'DISC1', 'EOMES', 'PAK3', 'FRMPD4', 'SNAI2', 'SORL1', 'TOMM40', 'BCORL1', 'MAPK10', 'WDR48', 'HLA-A', 'TMEM185A', 'ZFR', 'ZNF592', 'IRGM', 'ABCB1', 'MT-RNR1', 'SMPX', 'PHF8', 'FBXW4', 'DLX6', 'SEM1', 'EPS15L1', 'BTRC', 'OGT', 'SUMO1', 'RHOA', 'ARSI', 'KLHL15', 'CYSLTR2', 'BRWD3', 'MID2', 'KANK1', 'RS1', 'CRH', 'JRK', 'LRIF1', 'IL1RAPL1', 'FTSJ1', 'EMX2', 'PTCHD1', 'IRS4', 'DRD2', 'FGF16', 'ADRA2B', 'LZTS1', 'SMAD7', 'KIF4A', 'USP27X', 'NR4A3', 'SYP', 'KEAP1', 'AMELX', 'DIAPH2', 'TSPAN7', 'GPRASP2', 'ZFAT', 'TEX11', 'FIGLA', 'OPN1LW', 'OPN1MW', 'FKBP5', 'PLS3', 'CLDN2', 'TGFA', 'RIMS1', 'FOXO1', 'CFAP47', 'CHRDL1', 'NYX', 'CREB1', 'ASPSCR1', 'SSX2', 'HLA-DRA', 'WDR36', 'NTF4', 'DMRT1', 'DAZ4', 'TSPY1', 'SERPINA12', 'C2CD6']\n", "\n", "Object names with similarities > threshold or top 10 highest values:\n", "['HSD3B7', 'LIPA', 'AKR1D1', 'PYGL', 'BAAT', 'CDAN1', 'CALR', 'MRPL3', 'TRMT10C', 'RUNX1', 'FAH', 'LARS1', 'STEAP3', 'MYO5B', 'SLC2A2', 'KIF23', 'SLC4A1', 'PKLR', 'RHAG', 'SCO1', 'PHKG2']\n", @@ -472,7 +441,7 @@ }, { "cell_type": "code", - "execution_count": null, + "execution_count": 12, "metadata": {}, "outputs": [ { @@ -486,7 +455,7 @@ "Similarity analysis done.\n", "\n", "Object names sorted by the highest similarities:\n", - "['Lysosomal acid lipase deficiency', 'Interstitial lung and liver disease', 'Hydrops, lactic acidosis, and sideroblastic anemia', 'Bile acid synthesis defect, congenital, 3', 'Triokinase and FMN cyclase deficiency syndrome', 'Mitochondrial DNA depletion syndrome 16 (hepatic type)', 'Galactosemia', 'Immunodeficiency 69, mycobacteriosis', 'Cholestasis, progressive familial intrahepatic, 10', 'Bile acid conjugation defect 1', 'Bile acid synthesis defect, congenital, 1', 'Anemia, congenital dyserythropoietic, type Ia', 'Sea-Blue histiocyte disease', 'Cholestasis, progressive familial intrahepatic, 5', 'Anemia, sideroblastic, 3, pyridoxine-refractory', 'Bile acid synthesis defect, congenital, 2', 'Combined oxidative phosphorylation deficiency 9', 'Bile acid synthesis defect, congenital, 4', 'Combined oxidative phosphorylation deficiency 30', 'Infantile liver failure syndrome 1', 'Tyrosinemia, type I', 'Liver failure, infantile, transient', 'Anemia, dyserythropoietic congenital, type IV', 'Pearson marrow-pancreas syndrome', 'Niemann-Pick disease, type A', 'Citrullinemia, type II, neonatal-onset', 'Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)', 'Mitochondrial complex IV deficiency, nuclear type 4', 'Neutropenia, severe congenital, 5, autosomal recessive', 'Sitosterolemia 1', 'Renal tubular acidosis, distal, with hemolytic anemia', 'Niemann-pick disease, type B', 'Propionic acidemia', 'Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)', 'Sclerosing cholangitis, neonatal', 'Combined oxidative phosphorylation deficiency 34', 'Cholestasis, progressive familial intrahepatic, 3', 'Fanconi-Bickel syndrome', 'Cholestasis, progressive familial intrahepatic, 12', 'Methylmalonic aciduria, vitamin B12-responsive, cblB type', 'Wolman disease', 'Leukocyte adhesion deficiency, type III', 'Bile acid synthesis defect, congenital, 5', 'Mitochondrial complex III deficiency, nuclear type 3', 'Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive', 'Congenital disorder of glycosylation, type Ib', 'Osteopetrosis, autosomal recessive 8', 'Mitochondrial complex III deficiency, nuclear type 10', 'Glycogen storage disease XII', 'Hemophagocytic lymphohistiocytosis, familial, 1', 'Immunodeficiency 27A, mycobacteriosis, AR', 'Omenn syndrome', 'Congenital disorder of glycosylation, type Ih', 'Transaldolase deficiency', 'Hyperbilirubinemia, shunt, primary', 'Immunodeficiency 87 and autoimmunity', 'Congenital disorder of glycosylation, type IIaa', 'Growth retardation, impaired intellectual development, hypotonia, and hepatopathy', 'Heme oxygenase-1 deficiency', 'Wilson disease', 'Anemia, congenital dyserythropoietic, type Ib', 'Thrombocytopenia, anemia, and myelofibrosis', 'Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)', 'Orotic aciduria', 'Cholestasis, progressive familial intrahepatic, 8', 'Hemochromatosis, neonatal', 'Combined oxidative phosphorylation deficiency 19', 'Anemia, dyserythropoietic congenital, type III', 'Congenital disorder of glycosylation, type IIO', 'Combined oxidative phosphorylation deficiency 16', 'Thalassemia-beta, dominant inclusion-body', 'Phosphoenolpyruvate carboxykinase deficiency, cytosolic', 'Osteootohepatoenteric syndrome', 'Autoinflammation with infantile enterocolitis', 'Erythroleukemia, familial, susceptibility to', 'Congenital disorder of glycosylation, type IIK', 'Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy', 'Cholestasis, progressive familial intrahepatic 1', 'Hypertriglyceridemia, transient infantile', 'Bleeding disorder, platelet-type, 16', 'Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome', 'Letterer-Siwe disease', 'Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis', 'Anemia, hypochromic microcytic, with iron overload 2', 'Hemophagocytic lymphohistiocytosis, familial, 2', 'Methylmalonic aciduria, vitamin B12-responsive, cblA type', 'Dehydrated hereditary stomatocytosis 2', 'Lecithin:cholesterol acyltransferase deficiency', 'Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss', 'Immunodeficiency 47', 'Ghosal hematodiaphyseal dysplasia', 'Hemophagocytic lymphohistiocytosis, familial, 4', 'Spherocytosis, type 5', 'Hemolytic anemia, nonspherocytic, due to hexokinase deficiency', 'Anemia, X-linked, with or without neutropenia and/or platelet abnormalities', 'Lysinuric protein intolerance', 'Rajab interstitial lung disease with brain calcifications', 'Hemophagocytic lymphohistiocytosis, familial, 5', 'Glycogen storage disease IV', 'HMG-CoA synthase-2 deficiency', 'Hypobetalipoproteinemia, familial, 1', 'Mitochondrial complex I deficiency, nuclear type 11', 'Osteopetrosis, autosomal recessive 1', 'Combined oxidative phosphorylation deficiency 42', 'Combined oxidative phosphorylation deficiency 40', 'Osteopetrosis, autosomal recessive 4', 'Gallbladder disease 1', 'Cholestasis-Lymphedema syndrome', 'Hemolytic anemia due to glutathione synthetase deficiency', 'Combined oxidative phosphorylation deficiency 12', 'Anemia, dyserythropoietic congenital, type II', 'Glycogen storage disease IXc', 'Cholestasis, progressive familial intrahepatic, 6', 'Mitochondrial complex III deficiency, nuclear type 6', 'Reticuloendotheliosis, X-linked', 'Glycogen storage disease VI', 'Majeed syndrome', 'Combined oxidative phosphorylation deficiency 52', 'Proteasome-Associated autoinflammatory syndrome 3', 'Congenital disorder of glycosylation, type IIP', 'Polyglucosan body myopathy 1 with or without immunodeficiency', 'Focal segmental glomerulosclerosis 1', 'Cholestasis, progressive familial intrahepatic 2', 'Bleeding disorder, platelet-type, 19', 'Bleeding disorder, platelet-type, 17', 'Citrullinemia, type II, adult-onset', 'Amegakaryocytic thrombocytopenia, congenital, 2', 'Immunodeficiency 46', 'Congenital disorder of glycosylation, type IIw', 'Juvenile polyposis syndrome', 'Gaucher disease, atypical', 'Mitochondrial trifunctional protein deficiency', 'Hyperlipoproteinemia, type ID', 'Bile acid malabsorption, primary, 2', 'Osteopetrosis, autosomal recessive 3', 'Cholestasis, progressive familial intrahepatic, 11', 'Pyridoxamine 5-prime-phosphate oxidase deficiency', 'Hyperbiliverdinemia', 'Portal hypertension, noncirrhotic, 2', 'Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency', 'Protoporphyria, erythropoietic, 1', 'Prolidase deficiency', '3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency', 'Hypermethioninemia due to adenosine kinase deficiency', 'Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase', 'Monosomy 7 myelodysplasia and leukemia syndrome 2', 'Polycythemia vera', 'Immunodeficiency 22', 'Fanconi anemia, complementation group V', 'Osteopetrosis, autosomal recessive 5', 'Mitochondrial complex III deficiency, nuclear type 1', 'Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations', 'Cholestasis, intrahepatic, of pregnancy 3', 'Immunodeficiency 40', 'Infantile liver failure syndrome 3', 'Carnitine palmitoyltransferase I deficiency', 'Argininosuccinic aciduria', 'Lymphoproliferative syndrome 1', 'Hemochromatosis, type 2B', 'Thrombocytopenia 6', 'Isovaleric acidemia', 'Pyogenic sterile arthritis, pyoderma gangrenosum, and acne', 'Anemia, hypochromic microcytic, with iron overload 1', 'Spherocytosis, type 2', 'Thanatophoric dysplasia, glasgow variant', 'Combined oxidative phosphorylation deficiency 37', 'Diarrhea 13', 'Fructose intolerance, hereditary', 'Mitochondrial complex I deficiency, nuclear type 20', 'Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2', 'Autoinflammatory-pancytopenia syndrome', 'Mitochondrial complex III deficiency, nuclear type 5', 'Cyanosis, transient neonatal', 'Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7', 'Combined oxidative phosphorylation deficiency 14', 'Arthrogryposis, renal dysfunction, and cholestasis 1', 'Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young', 'Osteopetrosis, autosomal recessive 2', 'Overhydrated hereditary stomatocytosis', 'Carnitine deficiency, systemic primary', 'Fumarase deficiency', 'Combined low LDL and fibrinogen', 'Gaucher disease, type I', 'Osteopetrosis, autosomal dominant 3', 'Hemochromatosis, type 4', 'Elliptocytosis 1', 'Werner syndrome', 'Pyruvate kinase deficiency of red cells', '3-methylglutaconic aciduria, type V', 'Hemophagocytic lymphohistiocytosis, familial, 3', 'Mevalonic aciduria', 'Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia', 'Hyperparathyroidism, neonatal severe', 'Cardiomyopathy, familial restrictive, 6', 'Mitochondrial complex IV deficiency, nuclear type 3', 'Thrombotic thrombocytopenic purpura, hereditary', 'Anemia, sideroblastic, 2, pyridoxine-refractory', 'Lymphoproliferative syndrome, X-linked, 1', 'Mitochondrial complex IV deficiency, nuclear type 1', 'ATRANSFERRINEMIA', 'Gray platelet syndrome', 'Niemann-pick disease, type C1', 'Immunodeficiency 91 and hyperinflammation', 'Gaucher disease, type III', 'Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema', 'Dyserythropoiesis, congenital, with ultrastructurally normal erythroblastheterochromatin', 'Spherocytosis, type 1', 'Liver disease, severe congenital', 'Anemia, sideroblastic, 5', 'Transcobalamin II deficiency', 'Stormorken syndrome', 'Copper deficiency, familial benign', 'Seckel syndrome 10', 'Spherocytosis, type 4', 'Combined oxidative phosphorylation deficiency 41', 'Hemochromatosis, type 5', 'Trichohepatoenteric syndrome 1', 'Hardikar syndrome', 'Mitochondrial DNA depletion syndrome 4A (Alpers type)', 'Autoinflammation with episodic fever and lymphadenopathy', 'Cholestasis, intrahepatic, of pregnancy, 1', 'Cholestasis, progressive familial intrahepatic, 9', 'Aicardi-Goutieres syndrome 9', 'Methylmalonic aciduria and homocystinuria, Cblf type', 'Congenital disorder of glycosylation, type IIl', 'T-cell lymphoma, subcutaneous panniculitis-like', 'Celiac disease, susceptibility to, 1', 'Splenoportal vascular anomalies', 'Glycogen storage disease Ia', 'Megaloblastic anemia due to dihydrofolate reductase deficiency', 'Abdominal obesity-metabolic syndrome 4', 'Combined oxidative phosphorylation deficiency 10', 'Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency', 'Trimethylaminuria', 'Thrombocytopenia 5', 'Erythrocytosis, familial, 8', 'Osteopetrosis, autosomal recessive 9', 'Thrombocytopenia with beta-thalassemia, X-linked', 'Proteasome-associated autoinflammatory syndrome 5', 'Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A', 'Mcleod syndrome', 'Shwachman-Diamond syndrome 1', 'Sickle cell anemia', 'Medium chain 3-ketoacyl-coa thiolase deficiency', 'Peroxisome biogenesis disorder 8A (Zellweger)', 'Hypermanganesemia with dystonia 1', 'Lymphoproliferative syndrome 2', 'Phosphoenolpyruvate carboxykinase 2, mitochondrial', 'Hepatitis, fulminant viral, susceptibility to', 'Congenital disorder of glycosylation, type IR', 'Dihydropyrimidinuria', 'Distal renal tubular acidosis 3, with or without sensorineural hearing loss', 'RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic', 'Lymphatic malformation 7', 'Dihydrolipoamide dehydrogenase deficiency', 'Congenital disorder of glycosylation, type It', 'Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1', 'Diamond-Blackfan anemia 16', 'Fibrosis, neurodegeneration, and cerebral angiomatosis', 'Fanconi anemia, complementation group T', 'Bone marrow failure syndrome 6', 'Neuroblastoma, susceptibility to', 'Combined oxidative phosphorylation deficiency 36', 'Mitochondrial trifunctional protein deficiency 2', 'Biliary, renal, neurologic, and skeletal syndrome', 'Congenital disorder of glycosylation, type IIj', 'Autoimmune lymphoproliferative syndrome, type III', 'Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome', 'Cirrhosis, familial', 'Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss', 'Dyskeratosis congenita, autosomal dominant, 1', 'Anemia, sideroblastic, autosomal dominant', 'Glucose/galactose malabsorption', 'Hemochromatosis, type 1', 'Bone marrow failure syndrome 2', 'Diarrhea 7, protein-losing Enteropathy type', 'Neutropenia, severe congenital, 4, autosomal recessive', 'Iron-Refractory iron deficiency anemia', 'Bernard-Soulier syndrome, type A2, autosomal dominant', 'Chylomicron retention disease', 'Immunodeficiency 98 with autoinflammation, X-linked', 'Immunodeficiency 44', 'Myopathy, lactic acidosis, and sideroblastic anemia 2', 'Neutropenia, severe congenital, 1, autosomal dominant', 'Gaucher disease, type II', 'Cryohydrocytosis', 'Dyskeratosis congenita, autosomal dominant 2', 'Harderoporphyria', 'Specific granule deficiency 2', 'Platelet glycoprotein IV deficiency', 'Gaucher disease, perinatal lethal', 'Immunodeficiency 97 with autoinflammation', 'Eosinophilia, familial', 'Rajab interstitial lung disease with brain calcifications 2', 'Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency', 'Pyloric stenosis, infantile hypertrophic 1', 'Triosephosphate isomerase deficiency', 'Cholestasis, benign recurrent intrahepatic, 2', 'Radioulnar synostosis with amegakaryocytic thrombocytopenia 2', 'Type I hyperlipoproteinemia', 'Intrinsic factor deficiency', 'Hemolytic uremic syndrome, atypical, susceptibility to, 4', 'Morbid obesity and spermatogenic failure', 'Hemolytic uremic syndrome, atypical, susceptibility to, 2', 'Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1', 'Bleeding disorder, platelet-type, 24, autosomal dominant', 'Diamond-Blackfan anemia 19', 'Immunodeficiency 82 with systemic inflammation', 'Mitchell-Riley syndrome', 'Porphyria, congenital erythropoietic', 'Thrombocytopenia 9', 'Gilbert syndrome', 'Glycogen storage disease type IXb', 'Citrullinemia, classic', 'Combined oxidative phosphorylation deficiency 1', 'Mitochondrial complex I deficiency, nuclear type 39', 'Diabetes mellitus, permanent neonatal 4', 'Hemolytic anemia, G6PD deficient (favism)', 'Autoinflammation with pulmonary and cutaneous vasculitis', 'Shwachman-Diamond syndrome 2', 'Developmental and epileptic encephalopathy 50', 'Glutaric aciduria III', 'Glycogen storage disease Ib', 'Red cell phospholipid defect with hemolysis', 'Analbuminemia', 'Rh-null disease, amorph type', 'Hemolytic uremic syndrome, atypical, susceptibility to, 6', 'Anemia, nonspherocytic hemolytic, possibly due to defect in porphyrinmetabolism', 'Patent ductus venosus', 'Enterokinase deficiency', 'Galactose epimerase deficiency', 'Johanson-Blizzard syndrome', 'Platelet disorder, undefined', 'Transient erythroblastopenia of childhood', 'Bleeding disorder, platelet-type, 21', 'Cholestasis, progressive familial intrahepatic 4', 'Congenital disorder of glycosylation, type IIr', 'Nephronophthisis 19', 'Methylmalonic aciduria and homocystinuria, Cblj type', 'Corticosteroid-binding globulin deficiency', 'Aplasia cutis congenita with intestinal lymphangiectasia', 'Immunodeficiency 56', 'Thrombocytopenic purpura, autoimmune', 'Bernard-Soulier syndrome', 'Lipodystrophy, congenital generalized, type 3', 'Mitochondrial complex IV deficiency, nuclear type 12', 'Mitochondrial myopathy, infantile, transient', 'Peroxisome biogenesis disorder 13A (Zellweger)', 'Lipodystrophy, congenital generalized, type 4', '3-hydroxyisobutyric aciduria', 'Platelet signal processing defect', 'Pseudo-Torch syndrome 2', 'Inflammatory bowel disease (infantile ulcerative colitis) 31', 'Ornithine transcarbamylase deficiency, hyperammonemia due to', 'Short-Rib thoracic dysplasia 10 with or without polydactyly', 'Pseudohypoaldosteronism, type I, autosomal dominant', 'Diarrhea 1, secretory chloride, congenital', 'Fanconi renotubular syndrome 1', 'Acyl-Coa dehydrogenase, medium-chain, deficiency of', 'Hyperzincemia with functional zinc depletion', 'Agammaglobulinemia 8B, autosomal recessive', 'Diarrhea 12, with microvillus atrophy', 'Infantile sialic acid storage disease', 'Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked', 'Myopathy, lactic acidosis, and sideroblastic anemia 1', 'Wolfram syndrome, mitochondrial form', 'Thrombocytopenia with elevated serum IgA and renal disease', 'Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis', 'Polycystic liver disease 1 with or without kidney cysts', 'Immunodeficiency 48', 'Acetophenetidin sensitivity', 'Ceroid storage disease', 'von Willebrand disease, type 3', 'Dohle bodies and leukemia', 'Hemochromatosis, type 3', 'Amegakaryocytic thrombocytopenia, congenital', 'Thrombocythemia 1', 'Interleukin 1 receptor antagonist deficiency', 'Neutrophilia, hereditary', '3-Hydroxyacyl-Coa dehydrogenase deficiency', 'Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis', 'Pseudohypoaldosteronism, type I, autosomal recessive', 'Hemolytic uremic syndrome, atypical, susceptibility to, 3', 'Anemia, hemolytic, Rh-null, Regulator type', 'Congenital disorder of glycosylation, type IIe', 'Ovalocytosis, hereditary hemolytic, with defective erythropoiesis', 'Diamond-Blackfan anemia 12', 'Prekallikrein deficiency', 'Immunodeficiency 64', 'Hemolytic uremic syndrome, atypical, susceptibility to, 1', 'Thrombocytopenia 10', 'Aicardi-Goutieres syndrome 4', 'Immunodeficiency 7, TCR-alpha/beta deficient', 'Renal-Hepatic-Pancreatic dysplasia 2', 'Farber lipogranulomatosis', 'Cinca syndrome', 'Glycosylphosphatidylinositol deficiency', 'Apparent mineralocorticoid excess', 'Immunodeficiency 52', 'Combined oxidative phosphorylation deficiency 47', 'Amino aciduria with mental deficiency, dwarfism, muscular dystrophy,osteoporosis, and acidosis', 'Congenital disorder of glycosylation, type IID', 'Mitochondrial complex I deficiency, nuclear type 32', 'Diamond-Blackfan anemia 3', 'Phosphoglycerate dehydrogenase deficiency', 'Bone marrow failure syndrome 4', 'Combined malonic and methylmalonic aciduria', 'Hyperammonemia due to carbonic anhydrase VA deficiency', 'Lymphoproliferative syndrome, X-linked, 2', 'Galactosialidosis', 'Peroxisome biogenesis disorder 3B', 'Pseudo-Torch syndrome 3', 'Diarrhea 4, malabsorptive, congenital', 'Diamond-Blackfan anemia 18', 'Congenital short bowel syndrome', 'Infantile liver failure syndrome 2', 'Carnitine palmitoyltransferase II deficiency, infantile', 'Homocystinuria-megaloblastic anemia, cblg Complementation type', 'Band-Like calcification with simplified gyration and polymicrogyria', 'Methylmalonyl-Coa epimerase deficiency', 'Ataxia-Pancytopenia syndrome', 'Lactase deficiency, congenital', 'Asplenia, isolated congenital', 'Autoinflammation with arthritis and dyskeratosis', 'Renal tubulopathy, diabetes mellitus, and cerebellar ataxia', 'Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification', 'Niemann-pick disease, type C2', 'Immunodeficiency 63 with lymphoproliferation and autoimmunity', 'Mitochondrial complex I deficiency, nuclear type 13', 'Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay', 'Hemoglobin-Delta locus', 'Arthrogryposis, renal dysfunction, and cholestasis 2', 'Autoimmune lymphoproliferative syndrome', 'Blue rubber bleb nevus', 'Homocystinuria-megaloblastic anemia, cbl E type', 'Dyskeratosis congenita, autosomal dominant 3', 'Reynolds syndrome', 'Combined oxidative phosphorylation deficiency 4', 'Coenzyme Q10 deficiency, primary, 3', 'Autoimmune lymphoproliferative syndrome, type IIA', 'Megaloblastic anemia, folate-responsive', 'Apolipoprotein C-II deficiency', 'Erythroderma, lethal congenital', 'Methylmalonic aciduria and homocystinuria, Cblc type', 'Diarrhea 10, protein-losing enteropathy type', 'B-cell expansion with NFKB and T-cell anergy', 'Pancreatitis, hereditary', 'Hypercholanemia, familial', '3-Methylcrotonyl-CoA carboxylase 2 deficiency', 'Axial osteomalacia', 'Aicardi-Goutieres syndrome 6', 'Combined oxidative phosphorylation deficiency 43', 'Camurati-Engelmann disease', 'Thrombocytopenia, X-linked, with or without dyserythropoietic anemia', 'Hemangioma-Thrombocytopenia syndrome', 'Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome', 'Combined oxidative phosphorylation deficiency 8', 'Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemiadue to', 'Retinitis pigmentosa and erythrocytic microcytosis', 'Mitochondrial complex III deficiency, nuclear type 9', 'Diamond-Blackfan anemia 20', 'Porphyria, acute hepatic', 'Leukoencephalopathy, progressive, infantile-onset, with or without deafness', 'Glutaric acidemia I', 'Folate malabsorption, hereditary', 'Mitochondrial complex I deficiency, nuclear type 25', 'Periodic fever, immunodeficiency, and thrombocytopenia syndrome', 'Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to', 'Aicardi-Goutieres syndrome 7', 'Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)', 'Immunodeficiency 16', 'Combined oxidative phosphorylation deficiency 23', 'Combined oxidative phosphorylation deficiency 18', 'Storage pool platelet disease', 'Glutathione synthetase deficiency', 'Renal-hepatic-pancreatic dysplasia 1', 'Bile acid synthesis defect, congenital, 6', 'Coronary artery disease, autosomal dominant 2', 'Myeloperoxidase deficiency', 'Dyskeratosis congenita, autosomal recessive, 2', 'Methemoglobinemia due to deficiency of methemoglobin reductase', 'Osteopetrosis, autosomal recessive 7', 'Neutropenia, severe congenital, 6, autosomal recessive', 'Holocarboxylase synthetase deficiency', 'Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige', 'Inflammatory bowel disease, immunodeficiency, and encephalopathy', 'Cerebroretinal microangiopathy with calcifications and cysts 2', 'Hypophosphatasia, adult', 'Gracile syndrome', 'Factor XI deficiency', 'Hemolytic uremic syndrome, atypical, susceptibility to, 5', 'Epilepsy, progressive myoclonic, 4, with or without renal failure', 'Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4', 'Combined oxidative phosphorylation deficiency 53', 'Diabetes mellitus, permanent neonatal 1', 'Erythrocytosis 6', 'Chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome', 'Elliptocytosis-3', 'Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia', 'Tangier disease', 'Isobutyryl-CoA dehydrogenase deficiency', 'Mitochondrial complex III deficiency, nuclear type 11', 'AMED syndrome, digenic', 'Osteosclerotic metaphyseal dysplasia', 'Amyloidosis, familial visceral', 'Congenital disorder of glycosylation, type IIh', 'Coenzyme Q10 deficiency, primary, 1', 'Lipoyltransferase 1 deficiency', 'Orthostatic hypotension 2', 'Hypophosphatasia, infantile', 'SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA ANDREDUCED CIRCULATING T-HELPER CELLS', 'Chylomicronemia, familial, due to circulating inhibitor of lipoproteinlipase', 'Hypophosphatemic rickets, autosomal dominant', 'Kenny-caffey syndrome, type 2', 'Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome', 'Alagille syndrome 2', 'Glycogen storage disease VII', 'Dyskeratosis congenita, autosomal recessive 1', 'Argininemia', 'Mitochondrial DNA depletion syndrome 17', 'Mitochondrial complex IV deficiency, nuclear type 20', 'Premature aging syndrome, Okamoto type', 'Acrodermatitis enteropathica, Zinc-Deficiency type', '3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome', 'Myopathy with exercise intolerance, Swedish type', 'Bone marrow failure syndrome 3', 'Chronic granulomatous disease 5, autosomal recessive', 'Ichthyosiform erythroderma, corneal involvement, and deafness', 'Hyperlipoproteinemia, type V', 'Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay', 'Bare lymphocyte syndrome, type II', 'Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy', 'Fanconi anemia, complementation group G', 'Immunodeficiency, common variable, 8, with autoimmunity', 'THIOPURINE S-METHYLTRANSFERASE DEFICIENCY', 'Macrocytosis, familial', 'Autoinflammation, immune dysregulation, and eosinophilia', '5-@oxoprolinase deficiency', 'Riboflavin deficiency', 'Diamond-Blackfan anemia-like', 'Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)', 'Immune defect due to absence of thymus', 'Hemoglobin H disease', 'Immunodeficiency 92', 'Erythrocytosis, familial, 5', 'Erythrocytosis 7', 'Chronic atrial and intestinal dysrhythmia', 'Microcephaly, Amish type', 'Wt limb-blood syndrome', 'Glycogen storage disease Ic', 'Nephrotic syndrome, type 7', 'Forsythe-Wakeling syndrome', 'Diamond-Blackfan anemia 4', 'Blue diaper syndrome', 'Diamond-Blackfan anemia 17', 'Diamond-Blackfan anemia 6', 'Stomatin-deficient cryohydrocytosis with neurologic defects', 'Fanconi anemia, complementation group E', 'NEPHROSIALIDOSIS', 'Pyruvate carboxylase deficiency', 'Hypervalinemia or hyperleucine-isoleucinemia', 'Myelodysplasia and leukemia syndrome with monosomy 7', 'Mirage syndrome', 'Cardiofaciocutaneous syndrome 3', 'Gracile bone dysplasia', 'Adenosine triphosphate, elevated, of erythrocytes', 'Fanconi renotubular syndrome 3', 'Bleeding disorder, platelet-type, 15', 'Immunodeficiency 54', 'Combined oxidative phosphorylation deficiency 11', 'Mitochondrial complex IV deficiency, nuclear type 10', 'Peroxisome biogenesis disorder 5A (Zellweger)', 'Plasminogen activator inhibitor-1 deficiency', 'Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency', 'Immunodeficiency, X-linked, with hyper-IgM', 'Neuraminidase deficiency', 'Mitochondrial complex I deficiency, nuclear type 29', 'Polycystic kidney disease 3', 'N-acetylglutamate synthase deficiency', '3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia', 'Pituitary adenoma 4, ACTH-secreting, somatic', 'Glycogen storage disease, type IXa1', 'Immunodeficiency 105, severe combined', 'Sucrase-isomaltase deficiency, congenital', 'Fallot complex with severe mental and growth retardation', 'Chediak-Higashi syndrome', 'Athrombia, essential', 'DUBIN-JOHNSON syndrome', 'Vascular malformation, primary intraosseous', 'Combined oxidative phosphorylation deficiency 17', 'Mitochondrial complex IV deficiency, nuclear type 22', 'Lipodystrophy, familial partial, type 5', 'Myopathy, distal, Tateyama type', 'Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to', 'Meckel syndrome, type 7', 'Combined oxidative phosphorylation deficiency 2', 'Combined oxidative phosphorylation deficiency 31', 'Calvarial doughnut lesions with bone fragility', 'Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive', 'Fanconi anemia', 'Preeclampsia/eclampsia 1', 'Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation', 'Diamond-Blackfan anemia 7', 'Autoinflammation, panniculitis, and dermatosis syndrome', 'Thrombocytopenia 2', 'Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)', 'Fanconi anemia, complementation group F', 'Nephrotic syndrome, type 1', 'Chanarin-Dorfman syndrome', 'Diabetes mellitus, neonatal, with congenital hypothyroidism', 'Porphyria cutanea tarda', '3-Methylcrotonyl-CoA carboxylase 1 deficiency', 'Immunodeficiency 31C', 'Combined oxidative phosphorylation deficiency 48', 'Hyperchlorhidrosis, isolated', 'Combined oxidative phosphorylation deficiency 46', 'Cystic fibrosis', 'Autoimmune polyendocrine syndrome, type II', 'COACH syndrome 3', 'Hawkinsinuria', 'Arteriosclerosis, severe juvenile', 'Elliptocytosis 2', 'Mitochondrial complex I deficiency, nuclear type 7', 'Fanconi anemia, complementation group D1', 'Congenital disorder of glycosylation, type Ix', 'STING-associated vasculopathy, infantile-onset', 'Autoimmune lymphoproliferative syndrome, type V', 'Fanconi anemia, complementation group C', 'Sengers syndrome', 'Mitochondrial complex III deficiency, nuclear type 7', 'Immunodeficiency 21', 'Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly', 'Immunoosseous dysplasia, Schimke type', 'Microcephaly, congenital cataract, and psoriasiform dermatitis', 'Bleeding disorder, platelet-type, 25', 'Malignant hyperthermia, susceptibility to, 1', 'Hypophosphatemic bone disease', 'Fructose-1,6-bisphosphatase deficiency', 'Hutchinson-Gilford progeria syndrome', 'Erythrocytosis, familial, 1', 'Autoinflammatory syndrome, familial, with or without immunodeficiency', 'Severe combined immunodeficiency with sensitivity to ionizing radiation', 'PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS', 'Platelet disorder, familial, with associated myeloid malignancy', 'ACERULOPLASMINEMIA', 'Thrombocytopenia 4', 'Biliary atresia, extrahepatic', 'Agammaglobulinemia 9, autosomal recessive', 'Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2', 'Proteasome-associated autoinflammatory syndrome 4', 'Ectodermal dysplasia and immunodeficiency 2', 'Malonyl-CoA decarboxylase deficiency', 'Coenzyme Q10 deficiency, primary, 2', 'Kearns-Sayre syndrome', 'Hypercholanemia, familial 2', 'Mitochondrial DNA depletion syndrome 18', 'Lipodystrophy, familial partial, type 3', 'Congenital disorder of glycosylation, type Ia', 'Lymphoproliferative syndrome 3', 'Diamond-Blackfan anemia 9', 'Thrombophilia due to protein S deficiency, autosomal recessive', 'Von willebrand disease, type 2', 'Mitochondrial complex I deficiency, nuclear type 6', 'Mitochondrial complex IV deficiency, nuclear type 7', 'Mitochondrial complex IV deficiency, nuclear type 13', 'Von willebrand disease, X-linked form', 'Combined oxidative phosphorylation deficiency 55', 'Mitochondrial DNA depletion syndrome 19', 'Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia', 'Familial apolipoprotein gene cluster deletion syndrome', 'Meckel syndrome 3', 'Hyaline fibromatosis syndrome', 'Pseudo-Von willebrand disease', 'Encephalopathy, ethylmalonic', 'Pseudohypoaldosteronism, type IIE', 'Autoinflammatory syndrome, familial, X-linked, Behcet-like 2', 'Corticosterone methyloxidase type I deficiency', 'Nephronophthisis 11', 'HDL deficiency, familial, 1', 'Renal tubular acidosis III', 'Pseudohypoaldosteronism, type IIC', 'Combined oxidative phosphorylation deficiency 5', 'Nephronophthisis 16', 'Pancreatic and cerebellar agenesis', 'Mucopolysaccharidosis-Plus syndrome', 'Tatsumi factor deficiency', 'Splenomegaly, cytopenia, and vision loss', 'Hypophosphatemic rickets, autosomal recessive', 'Factor V deficiency', 'Oslam syndrome', 'Immunodeficiency 41 with lymphoproliferation and autoimmunity', 'Mitochondrial complex I deficiency, nuclear type 1', '3-methylglutaconic aciduria, type VIII', 'Homozygous 11p15-p14 deletion syndrome', 'Epiphyseal chondrodysplasia, Miura type', 'D-bifunctional protein deficiency', 'Acetyl-CoA carboxylase deficiency', 'GM1-gangliosidosis, type II', 'Lipodystrophy, familial partial, type 2', 'Atelis syndrome 2', 'Congenital disorder of glycosylation, type Ic', 'Diabetes mellitus, ketosis-prone', 'Renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies', 'Pyropoikilocytosis, hereditary', 'Senior-Loken syndrome 9', 'Neutrophilic dermatosis, acute febrile', 'Peroxisome biogenesis disorder 6A (Zellweger)', 'Erythrocytosis, familial, 4', 'Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria', 'Bleeding disorder, platelet-type, 8', 'Diabetes insipidus, nephrogenic, 2', 'Autoimmune lymphoproliferative syndrome, type IIB', 'Thiamine-Responsive megaloblastic anemia syndrome', 'Renal tubular acidosis, proximal', 'Mitochondrial complex I deficiency, nuclear type 5', 'Body mass index quantitative trait locus 20', 'Hypercholesterolemia, autosomal recessive', 'Spinocerebellar ataxia, autosomal recessive 21', 'Portal hypertension, noncirrhotic', 'Congenital disorder of glycosylation, type Il', 'Immunodeficiency 94 with autoinflammation and dysmorphic facies', 'Hemochromatosis, type 2A', 'Primordial dwarfism-immunodeficiency-lipodystrophy syndrome', 'Thrombocythemia 3', 'Bartter syndrome, type 1, antenatal', 'Glanzmann thrombasthenia 2', 'Giant platelet syndrome with thrombocytopenia', 'Diamond-Blackfan anemia 1', 'Homocystinuria due to cystathionine beta-synthase deficiency', 'Mitochondrial pyruvate carrier deficiency', 'Coumarin resistance', 'Hemopoietic proliferation', 'Leukocyte nuclear appendages, hereditary prevalence of', 'Giant neutrophil leukocytes', 'Antithrombin, familial hemorrhagic diathesis due to', 'Car factor deficiency', 'HYPERHEPARINEMIA', 'Pechet factor deficiency', 'Platelet factor 3 deficiency', 'Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency', 'Thrombocythemia 2', 'Mitochondrial phosphate carrier deficiency', 'Glanzmann thrombasthenia', 'Congenital disorder of glycosylation, type IIB', 'Cystinosis, nephropathic', 'Cryoglobulinemia, familial mixed', 'Intrinsic factor and R binder, combined congenital deficiency of', 'Immunodeficiency 60', 'Combined oxidative phosphorylation deficiency 38', 'Fish-Eye disease', 'Mitochondrial complex I deficiency, nuclear type 34', 'Diamond-Blackfan anemia 5', 'Carnitine palmitoyltransferase II deficiency, lethal neonatal', 'Short stature with microcephaly and distinctive facies', 'Mitochondrial complex IV deficiency, nuclear type 6', 'Cerebroretinal microangiopathy with calcifications and cysts 1', 'Gaucher disease, type IIIC', 'Diarrhea 9', 'Anemia, sideroblastic, X-linked', 'Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)', 'Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II', 'Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I', 'Thrombocytopenia 3', 'Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature', 'Mitochondrial complex I deficiency, nuclear type 35', 'Hypothyroidism, congenital, nongoitrous, 6', 'Proteasome-associated autoinflammatory syndrome 1 and digenic forms', 'Fabry disease', 'Pancreatic beta cell agenesis with neonatal diabetes mellitus', 'Malignant hyperthermia, susceptibility to, 4', 'Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive', 'Pseudohypoaldosteronism, type IB3, autosomal recessive', 'Cardiac valvular defect, developmental', 'Immunodeficiency due to purine nucleoside phosphorylase deficiency', 'Erythrocytosis, familial, 2', 'Hypertriglyceridemia 2', 'Epileptic encephalopathy, early infantile, 82', 'Lymphedema, hereditary, III', 'Bartter syndrome, type 2', 'Polycystic kidney disease 2', 'Diamond-Blackfan anemia 8', 'Radioulnar synostosis with amegakaryocytic thrombocytopenia', 'Mitochondrial complex III deficiency, nuclear type 8', 'Lymphangiectasia, intestinal', 'Autoinflammatory syndrome, familial, Behcet-like', 'Factor VIII deficiency', 'Pancreatic agenesis and congenital heart defects', 'Scott syndrome', 'Diamond-Blackfan anemia 13', 'Hypophosphatemic rickets, autosomal recessive, 2', 'Krabbe disease', 'Fanconi anemia, complementation group R', 'Peroxisome biogenesis disorder 4B', 'Tubulointerstitial kidney disease, autosomal dominant, 4', 'Atherosclerosis susceptibility', 'Primary release disorder of platelets', 'Nephrolithiasis/osteoporosis, hypophosphatemic, 2', 'Immunodeficiency, common variable, 2', 'GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE', 'Microcephaly, epilepsy, and diabetes syndrome 2', 'Hypogonadotropic hypogonadism 18 with or without anosmia', 'Multiple acyl-CoA-dehydrogenase deficiency', 'Thrombocytopenia, Paris-Trousseau type', 'Trichohepatoenteric syndrome 2', 'Mitochondrial complex I deficiency, nuclear type 3', 'Hypokalemic alkalosis, familial, with specific renal tubulopathy', 'Hatipoglu immunodeficiency syndrome', 'Paget disease of bone 5, juvenile-onset', 'Diabetes mellitus, transient neonatal, 1', 'Noonan syndrome 1', 'Diamond-Blackfan anemia 21', 'Combined oxidative phosphorylation deficiency 28', 'Chromosome 5q deletion syndrome', 'Phenformin 4-hydroxylation', 'Cholestasis, benign recurrent intrahepatic 1', 'Glut1 deficiency syndrome 2', 'Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included', 'Coenzyme Q10 deficiency, primary, 5', 'Combined oxidative phosphorylation deficiency 13', 'Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction', 'ABETALIPOPROTEINEMIA', 'Edinburgh malformation syndrome', 'Tubulointerstitial kidney disease, autosomal dominant, 5', 'Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal', 'Thrombophilia due to histidine-rich glycoprotein deficiency', 'Platelet-Activating factor acetylhydrolase deficiency', 'Sulfhemoglobinemia, congenital', 'Vitamin d-dependent rickets, type 3', 'Glycerol kinase deficiency', 'Prune belly syndrome with pulmonic stenosis, mental retardation, anddeafness', 'Telangiectasia, hereditary hemorrhagic, type 2', 'Hyperostosis corticalis generalisata', 'Factor V and factor VIII, combined deficiency of', 'Factor V and factor VIII, combined deficiency of, with normal proteinc and protein C inhibitor', 'Wolfram syndrome 1', 'Systemic lupus erythematosus', 'Fanconi anemia, complementation group D2', 'Combined oxidative phosphorylation deficiency 3', 'Proteasome-Associated autoinflammatory syndrome 2', 'Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis', 'Cardiomyopathy, familial hypertrophic, 4', 'Spastic paraplegia and Evans syndrome', 'Nephronophthisis 1', 'Inflammatory skin and bowel disease, neonatal, 2', 'Acth deficiency, isolated', 'Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss', 'Gastrointestinal ulceration, recurrent, with dysfunctional platelets', 'Immunodeficiency 80 with or without cardiomyopathy', 'Combined oxidative phosphorylation deficiency 21', 'Methylmalonic aciduria and homocystinuria, Cbld type', 'Nephrolithiasis/osteoporosis, hypophosphatemic, 1', 'Juvenile arthritis', 'Camurati-engelmann disease, type 2', 'Pseudohypoaldosteronism, type II', 'Vitamin D hydroxylation-deficient rickets, type 1B', 'Biotinidase deficiencymultiple carboxylase deficiency, late-onset', 'Diarrhea 5, with tufting enteropathy, congenital', 'Monocarboxylate transporter 1 deficiency', 'Multiple mitochondrial dysfunctions syndrome 1', 'VEXAS syndrome, somatic', 'Glycogen storage disease 0, liver', 'Bleeding disorder, platelet-type, 11', 'Mitochondrial complex I deficiency, nuclear type 16', 'Mitochondrial complex I deficiency, nuclear type 15', 'Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive', 'Autoimmune disease, multisystem, infantile-onset, 1', 'Respiratory infections, recurrent, and failure to thrive with or without diarrhea', 'Peroxisome biogenesis disorder 11A (Zellweger)', 'Factor XIIIB deficiency', 'Agammaglobulinemia 3, autosomal recessive', 'Peroxisome biogenesis disorder 12A (Zellweger)', 'Immunodeficiency 19', 'Bile acid malabsorption, primary', 'Quebec platelet disorder', 'Hypercalcemia, infantile, 1', 'Liddle syndrome 3', 'Leigh syndrome', 'Whim syndrome', 'Megacystis-microcolon-intestinal hypoperistalsis syndrome 5', 'LIG4 syndrome', 'Ovalocytosis, hereditary hemolytic', 'Spherocytosis, autosomal recessive', 'Vitamin K-dependent clotting factors, combined deficiency of, 2', 'Gallbladder, agenesis of', 'Polyposis syndrome, hereditary mixed, 1', 'Dent disease 2', 'Thrombocytopenia, autosomal dominant, 7', 'Factor XIII, A subunit, deficiency of', 'Kenny-caffey syndrome, type 1', 'Immunodeficiency 109 with lymphoproliferation', 'Pseudohypoaldosteronism, type IB2, autosomal recessive', 'Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies', 'Aicardi-Goutieres syndrome 1', 'Combined oxidative phosphorylation deficiency 33', 'Supravalvular aortic stenosis', 'Griscelli syndrome, type 2', 'Malignant hyperthermia, susceptibility to, 2', 'Factor VII deficiency', 'Succinic acidemia', 'Carnitine-acylcarnitine translocase deficiency', 'Combined oxidative phosphorylation deficiency 27', 'Pigmented nodular adrenocortical disease, primary, 4', 'Osteogenesis imperfecta, type XXIII', 'Ovarian hyperstimulation syndrome', 'Felty syndrome', 'Formiminotransferase deficiency', 'Immunodeficiency 75', 'Mitochondrial complex I deficiency, nuclear type 8', 'Hypoalphalipoproteinemia, primary, 2, intermediate', 'Alpha-1-Antitrypsin deficiency', 'Bleeding disorder, platelet-type, 20', 'Hypogonadotropic hypogonadism 20 with or without anosmia', 'Aicardi-Goutieres syndrome 3', '3-hydroxyisobutryl-CoA hydrolase deficiency', 'Nephronophthisis 4', 'Peroxisome biogenesis disorder 7B', 'Pancreatic agenesis, congenital', 'Familial Mediterranean fever, AR', 'Combined oxidative phosphorylation deficiency 45', 'Congenital disorder of glycosylation, type Iw', 'Alagille syndrome 1', 'Retinitis pigmentosa 59', 'Histiocytosis-lymphadenopathy plus syndrome', 'Glyoxalase II deficiency', 'Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency', 'Rhizomelic chondrodysplasia punctata, type 3', 'Immunodeficiency with hyper-IgM, type 4', 'Hypophosphatemic rickets with hypercalciuria, hereditary', 'Sulfide:quinone oxidoreductase deficiency', 'Congenital disorder of glycosylation, type In', 'Glycogen storage disease II', 'Hypertriglyceridemia, familial', 'Maturity-onset diabetes of the young, type 13', 'Abdominal obesity-metabolic syndrome 3', 'Pancreatic insufficiency, combined exocrine', 'Osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia,hydrocephalus, and hypertension', 'Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2', 'Lipodystrophy, congenital generalized, type 2', 'Glycogen storage disease III', 'Multiple mitochondrial dysfunctions syndrome 5', 'Pontocerebellar hypoplasia, type 15', 'Myopathy, mitochondrial, lethal infantile', 'Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2', 'Diamond-Blackfan anemia 11', 'XFE progeroid syndrome', 'Polyposis, skin pigmentation, alopecia, and fingernail changes', 'Malignant hyperthermia, susceptibility to, 3', 'Mitochondrial complex I deficiency, nuclear type 30', 'Immunodeficiency 78 with autoimmunity and developmental delay', 'Lung disease, immunodeficiency, and chromosome breakage syndrome', 'Jejunal atresia', 'Diamond-blackfan anemia 10', 'Lymphangiectasia, pulmonary, congenital', 'VALINEMIA', 'Coproporphyria', 'Maple syrup urine disease', 'Aortic valve disease 2', 'Hepatorenocardiac degenerative fibrosis', 'Alpha-methylacetoacetic aciduria', 'Fanconi renotubular syndrome 2', 'Marbach-Rustad progeroid syndrome', 'Mitochondrial complex I deficiency, nuclear type 33', 'DEGCAGS syndrome', 'Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma', 'Mitochondrial complex I deficiency, nuclear type 26', 'Pyruvate dehydrogenase E1-beta deficiency', 'Mitochondrial complex IV deficiency, nuclear type 2', 'Retinitis pigmentosa 89', 'Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome', 'Deoxyribose-5-Phosphate aldolase deficiency', 'Mitochondrial complex I deficiency, nuclear type 37', 'Immunoerythromyeloid hypoplasia', 'Coronary artery disease, autosomal dominant, 1', 'Hermansky-Pudlak syndrome 2', 'Immunodeficiency 17', 'Chronic granulomatous disease, X-linked', 'Atelis syndrome 1', 'Pyruvate dehydrogenase phosphatase deficiency', 'Scid, autosomal recessive, T-Negative/b-Positive type', 'Short stature, Dauber-Argente type', 'Mitochondrial complex IV deficiency, nuclear type 11', 'Vitamin D hydroxylation-deficient rickets, type 1A', 'Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)', 'Mitochondrial complex IV deficiency, nuclear type 21', 'Paroxysmal nocturnal hemoglobinuria 2', 'Hydrops fetalis, nonimmune', 'Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)', 'Hyperglycinemia, lactic acidosis, and seizures', 'Immunodeficiency 15', 'Hyperlipidemia, familial combined, 3', 'Cartilage-hair hypoplasia', 'Spinocerebellar ataxia, autosomal recessive 30', 'Noonan syndrome 8', 'Neutropenia, severe congenital, 9, autosomal dominant', 'Holoprosencephaly 12 with or without pancreatic agenesis', 'Hypophosphatemic rickets, X-linked dominant', 'Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia', '3-methylglutaconic aciduria, type VIIA, autosomal dominant', 'Glutathione peroxidase deficiency', 'Mitochondrial complex II deficiency, nuclear type 3', 'Scleroderma, familial progressive', 'Encephalopathy due to defective mitochondrial and peroxisomal fission 1', 'Hypogonadotropic hypogonadism 19 with or without anosmia', 'Fanconi anemia, complementation group Q', 'Donohue syndrome', 'Mitochondrial complex IV deficiency, nuclear type 16', 'Autoimmune disease, multisystem, with facial dysmorphism', 'Xanthinuria, type I', 'Hepatic lipase deficiency', 'Deafness, autosomal dominant 1', 'Sarcoidosis, susceptibility to, 1', 'Immunodeficiency 10', 'Congenital disorder of glycosylation with defective fucosylation 1', 'Bleeding disorder, platelet-type, 9', 'Al-Gazali syndrome', 'Multiple mitochondrial dysfunctions syndrome 6', 'Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia', 'Alcohol sensitivity, acute', 'Acatalasemia', 'Bone marrow failure syndrome 5', 'Amyotrophic lateral sclerosis 20', 'Lipodystrophy, familial partial, type 6', 'Stuve-Wiedemann syndrome 2', 'Sudden cardiac failure, infantile', 'Hypoalphalipoproteinemia, primary, 2', 'Arima syndrome', 'Wiskott-Aldrich syndrome 2', 'Peutz-Jeghers syndrome', 'Adams-Oliver syndrome 6', 'Hypercholesterolemia, familial, 1', 'Spondyloepiphyseal dysplasia, Kondo-Fu type', 'Liddle syndrome 2', 'Cardiac valvular dysplasia 2', 'Mitochondrial DNA depletion syndrome 1 (MNGIE type)', 'Anemia, nonspherocytic hemolytic, associated with abnormality of redcell membrane', 'Campomelia, Cumming type', 'Dyskeratosis congenita, autosomal dominant 6', 'Acyl-Coa dehydrogenase, short-chain, deficiency of', 'Nephronophthisis 18', 'Senior-Loken syndrome 4', 'Silver-Russell syndrome 4', 'Heinz body anemias', 'Adams-Oliver syndrome 5', 'Immunoglobulin A deficiency 1', 'Intestinal dysmotility syndrome', 'Immunodeficiency 102', 'Hyper-Igd syndrome', 'Wolfram syndrome 2', 'Von willebrand disease, type 1', 'Gitelman syndrome', 'Fanconi anemia, complementation group P', 'Dyskeratosis congenita, autosomal recessive 5', 'Mitochondrial complex V (atp synthase) deficiency, nuclear type 3', 'Lipodystrophy, familial partial, type 4', 'VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1', 'Vitamin D-dependent rickets type 2B with normal vitamin D receptor', 'Osteogenesis imperfecta, type XVI', 'Pseudohypoaldosteronism, type IID', 'Osteopetrosis, autosomal dominant 2', 'Paget disease of bone 3', 'Hermansky-Pudlak syndrome 6', 'Right atrial isomerism (Ivemark)', 'Mucopolysaccharidosis type IIIA', 'Hepatic venoocclusive disease with immunodeficiency', '6-@phosphogluconolactonase deficiency', 'Adenylate kinase deficiency, hemolytic anemia due to', 'Mitochondrial complex I deficiency, nuclear type 22', 'Dk phocomelia syndrome', 'Parana hard-skin syndrome', 'Hyperinsulinemic hypoglycemia, familial, 6', 'Hypertrophic osteoarthropathy, primary, autosomal recessive 2', 'GLYCINE N-METHYLTRANSFERASE DEFICIENCY', 'Neutropenia, severe congenital, 7, autosomal recessive', 'Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration', 'Ossification of the posterior longitudinal ligament of spine', 'Pernicious anemia', 'Osteoporosis, juvenile', 'Very long-chain acyl-CoA dehydrogenase deficiency', 'Beemer lethal malformation syndrome', 'Immunodeficiency, common variable, 11', 'C1q deficiency 2', 'Mitochondrial complex I deficiency, nuclear type 9', 'Lipodystrophy, familial partial, type 1', 'Tubulointerstitial kidney disease, autosomal dominant, 2', 'Epilepsy, hearing loss, and mental retardation syndrome', 'Sandhoff disease', 'Neurodevelopmental disorder with or without autism or seizures', 'Ascites, chylous', 'Hyperoxaluria, primary, type I', 'Mitochondrial complex IV deficiency, nuclear type 15', 'Renal cysts and diabetes syndrome', 'Pulmonic stenosis', 'Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities', 'Neurodevelopmental disorder with epilepsy and hemochromatosis', 'Immunodeficiency, common variable, 1', 'Immunodeficiency 14B, autosomal recessive', 'Specific granule deficiency', 'Short-rib thoracic dysplasia 9 with or without polydactyly', 'Ichthyosis, hepatosplenomegaly, and cerebellar degeneration', 'Myelofibrosis with myeloid metaplasia, somatic', 'ABCD syndrome', 'ACTH-independent macronodular adrenal hyperplasia 2', 'Coach syndrome 2', 'Mitochondrial complex I deficiency, nuclear type 28', 'Immunodeficiency 84', 'Mucopolysaccharidosis type IIIB', 'Lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones', 'Mitochondrial complex V (ATP synthase) deficiency nuclear type 5', 'Immunodeficiency 57', 'Familial cold autoinflammatory syndrome 2', 'Paget disease of bone 4', 'Nephrotic syndrome, type 2', 'Mitochondrial complex I deficiency, nuclear type 24', 'Sitosterolemia 2', 'Ovarian dysgenesis 8', 'Liddle syndrome 1', 'Telangiectasia, hereditary hemorrhagic, type 1', 'Imerslund-Grasbeck syndrome 2', 'Adenine phosphoribosyltransferase deficiency', 'Candidiasis, familial chronic mucocutaneous, autosomal recessive', 'Immunodeficiency 76', 'Oxoglutarate dehydrogenase deficiency', 'Pelger-Huet anomaly', 'Senior-Loken syndrome 1', 'Glycoprotein storage disease', 'Epileptic encephalopathy, early infantile, 51', 'Bone marrow failure and diabetes mellitus syndrome', 'Protoporphyria, erythropoietic, 2', 'Aural atresia, multiple congenital anomalies, and mental retardation', 'Graves disease', 'Moyamoya disease 6 with achalasia', 'Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3', 'von Hippel-Lindau syndrome', 'Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures', 'Estrogen resistance', 'Osteogenesis imperfecta, type II', 'Hyperaldosteronism, familial, type III', 'GM1-gangliosidosis, type I', 'Obesity and hypopigmentation', 'Bone marrow failure syndrome 1', 'HYPERLEUCINE-ISOLEUCINEMIA', 'Tropical calcific pancreatitis', 'Hypogonadotropic hypogonadism 21 with or without anosmia', 'North american indian childhood cirrhosis', 'Nephronophthisis 2', 'Pulmonary hypertension, primary, 1', 'Rickets, vitamin D-resistant, type IIA', '2,4-dienoyl-CoA reductase deficiency', 'Leukotriene C4 synthase deficiency', 'Acrocephalopolydactylous dysplasia', 'Immunodeficiency 42', 'Peroxisome biogenesis disorder 11B', 'Beta-ureidopropionase deficiency', 'Combined saposin deficiency', 'Dyskeratosis congenita, X-linked', 'Immunodeficiency 12', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6', 'Digeorge syndrome', 'Atrial septal defect 2', 'Immunodeficiency 59 and hypoglycemia', 'Heterotaxy, visceral, 4, autosomal', 'Hypoaldosteronism, congenital, due to CMO II deficiency', 'Hermansky-Pudlak syndrome 9', 'Short-Rib thoracic dysplasia 1 with or without polydactyly', 'Noonan syndrome 4', 'Erythrocytosis, familial, 3', 'Retinal arterial macroaneurysm with supravalvular pulmonic stenosis', 'Hypotonia-cystinuria syndrome', 'Hypokalemic tubulopathy and deafness', 'Lowe syndrome', 'Pulmonic stenosis, atrial septal defect, and unique electrocardiographicabnormalities', 'Hall-Riggs mental retardation syndrome', 'Mungan syndrome', 'Immunodeficiency, common variable, 6', 'Noonan syndrome 12', 'Alstrom syndrome', 'Glycogen storage disease XI', 'Immunodeficiency, common variable, 7', 'Immunodeficiency 85 and autoimmunity', 'Mitochondrial complex I deficiency, nuclear type 14', 'Polycystic kidney disease 4 with or without polycystic liver disease', 'Nephropathy, progressive tubulointerstitial, with cholestatic liverdisease', 'Peroxisome biogenesis disorder 3A (Zellweger)', 'Pontocerebellar hypoplasia, type 13', 'Perlman syndrome', 'Squalene synthase deficiency', 'OSTEOPOROSIS', 'Coenzyme Q10 deficiency, primary, 7', 'Polycystic liver disease 2', 'D-glyceric aciduria', 'Paget disease of bone 6', 'Immunodeficiency 72 with autoinflammation', 'Bangstad syndrome', 'Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities', 'Hermansky-Pudlak syndrome 4', 'Epidermolysis bullosa dystrophica, autosomal recessive', 'Coach syndrome 1', 'Hypercholesterolemia, familial, 2', 'Cephalin lipidosis', 'Osteogenesis imperfecta, type XI', 'Dwarfism, Levi type', 'Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency', 'Lipodystrophy, congenital generalized, type 1', 'Congenital heart defects, multiple types, 7', 'Hyperlipoproteinemia, type II, and deafness', 'Hemolytic anemia due to glutathione reductase deficiency', 'Periodic fever, familial, autosomal dominant', 'Obesity, early-onset, with adrenal insufficiency and red hair', 'Gastritis, familial giant hypertrophic', 'Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia', 'Mitochondrial myopathy with lactic acidosis', 'Mucolipidosis III gamma', 'Renal tubular acidosis, distal, autosomal dominant', 'Diabetes mellitus, transient neonatal, 3', 'Myopathy, isolated mitochondrial, autosomal dominant', 'Molybdenum cofactor deficiency, complementation group C', 'Khan-Khan-Katsanis syndrome', 'Neutral lipid storage disease with myopathy', 'Ataxia-oculomotor apraxia 4', 'Iron overload, susceptibility to', 'Mucopolysaccharidosis type IVB (Morquio)', 'Larsen-like syndrome, Lethal type', 'Mandibuloacral dysplasia progeroid syndrome', 'Succinyl CoA:3-oxoacid CoA transferase deficiency', 'Gastrointestinal defects and immunodeficiency syndrome', 'Myeloproliferative disease, autosomal recessive', 'Fanconi anemia, complementation group S', 'OBESITY', 'Congenital disorder of glycosylation, type IIg', 'Hemolytic anemia due to elevated adenosine deaminase', 'Spinal muscular atrophy, type I, with congenital bone fractures', 'Rhizomelic chondrodysplasia punctata, type 2', 'Maturity-onset diabetes of the young, type 14', 'Nephrotic syndrome, type 6', 'Epileptic encephalopathy, early infantile, 53', 'Epileptic encephalopathy, early infantile, 36', 'Cranioectodermal dysplasia', 'Hyperparathyroidism, transient neonatal', 'Tumoral calcinosis, hyperphosphatemic, familial, 3', 'Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes', 'Congenital disorder of glycosylation, type Ii', 'Cerebrotendinous xanthomatosis', 'Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration', 'Hypophosphatemic rickets and hyperparathyroidism', 'Mitochondrial complex I deficiency, nuclear type 4', 'Intellectual developmental disorder, autosomal recessive 1', 'Hyperbilirubinemia, conjugated, type III', 'Crigler-najjar syndrome, type II', 'Wiskott-Aldrich syndrome', 'Diabetes mellitus, permanent neonatal 3, with or without neurologic features', 'Autoinflammatory disease, systemic, X-linked', 'Angioedema, hereditary, 1', 'Hemoglobin-Variants for which the chain carrying the mutation isunknown or uncertain', 'Agammaglobulinemia 1, autosomal recessive', 'Hypopigmentation, organomegaly, and delayed myelination and development', 'Pulmonic stenosis and deafness', 'Combined oxidative phosphorylation deficiency 22', 'Hypobetalipoproteinemia, familial, 2', 'Perrault syndrome 5', 'Porphyria, acute intermittent', 'Cardiomyopathy, dilated, 2C', 'Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)', 'Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias', 'Congenital disorder of glycosylation, type IE', 'Klippel-Trenaunay-Weber syndrome', 'Anemia, autoimmune hemolytic', 'Budd-Chiari syndrome', 'Immunodeficiency 9', 'Pitt-Hopkins-Like syndrome 2', 'Congenital heart defects, multiple types, 6', 'Inflammatory skin and bowel disease, neonatal, 1', 'Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2', 'Spondyloepimetaphyseal dysplasia, Shohat type', 'Immunodeficiency 43', 'Glomerulopathy with fibronectin deposits 1', 'Hyperinsulinemic hypoglycemia, familial, 8', 'Intrauterine growth retardation with increased mitomycin C sensitivity', 'Lactase persistence/nonpersistence', 'Visceral myopathy, familial, with external ophthalmoplegia', 'Tricarboxylic acid cycle, defect of', 'Glycogen storage disease of heart, lethal congenital', 'Hypogonadotropic hypogonadism 15 with or without anosmia', 'Congenital disorder of glycosylation, type IQ', '3-methylglutaconic aciduria, type I', 'Diamond-Blackfan anemia 15 with mandibulofacial dysostosis', 'Congenital disorder of glycosylation, type Iy', 'Myoclonic epilepsy associated with ragged-red fibers', 'Diarrhea 2, with microvillous atrophy', 'Pulmonary alveolar proteinosis with hypogammaglobulinemia', 'Deeah syndrome', 'Immunodeficiency, developmental delay, and hypohomocysteinemia', 'Gnathodiaphyseal dysplasia', 'Pituitary hormone deficiency, combined, 1', 'Progeroid short stature with pigmented nevi', 'Lymphedema, primary, with myelodysplasia', 'Hermansky-Pudlak syndrome 3', 'Peroxisome biogenesis disorder 8B', 'Hyperinsulinemic hypoglycemia, familial, 1', 'Hemophilia B', 'Combined oxidative phosphorylation deficiency 20', 'Immunodeficiency 53', 'Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4', 'Noonan syndrome-like with loose anagen hair 1', 'Tn polyagglutination syndrome', 'Geleophysic dysplasia 1', 'Hyperparathyroidism 4', 'Trichothiodystrophy 3, photosensitive', 'Hydroxykynureninuria', 'Hypereosinophilic syndrome, idiopathic', 'Hypercalcemia, infantile 2', 'Hyperbilirubinemia, familial transient neonatal', 'SULFOCYSTEINURIA', 'Peroxisome biogenesis disorder 4A (Zellweger)', 'Spinal muscular atrophy, segmental', 'Congenital disorder of glycosylation, type IIf', 'Galactosemia IV', 'Ichthyosis, congenital, autosomal recessive 4A', 'Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type', 'Angioedema, hereditary, 8', 'Combined oxidative phosphorylation deficiency 7', 'Mitochondrial complex IV deficiency, nuclear type 18', 'Hurler-Scheie syndrome', 'Kagami-Ogata syndrome', 'Nephrotic syndrome, type 15', 'Ventricular septal defect 1', 'Congenital disorder of glycosylation, type Im', 'Atrial standstill 2', 'Immunodeficiency 108 with autoinflammation', 'Aortic aneurysm, familial thoracic 4', 'Immunodeficiency-Centromeric instability-facial anomalies syndrome', 'Peroxisome biogenesis disorder 2A (Zellweger)', 'Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia', 'Bleeding disorder, platelet-type, 14', 'Coenzyme Q10 deficiency, primary, 4', 'Pancreatic lipase deficiency', 'Fucosidosis', 'Hypomagnesemia 7, renal, with or without dilated cardiomyopathy', 'Peroxisome biogenesis disorder 7A (zellweger)', 'Silver-Russell syndrome 5', 'Craniometadiaphyseal dysplasia', 'Osteogenesis imperfecta, type XXII', 'Fanconi anemia, complementation group L', 'Braddock-Carey syndrome 2', 'Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset', 'Mitochondrial complex I deficiency, nuclear type 18', 'Fatal familial insomnia', 'Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT', 'Lipodystrophy, partial, acquired, susceptibility to', 'Pigmented nodular adrenocortical disease, primary, 2', 'Singleton-Merten syndrome 2', 'Multiple mitochondrial dysfunctions syndrome 3', 'Hypercholesterolemia, familial, 3', 'Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression', 'Amyotrophic lateral sclerosis 21', 'LMNA-related congenital muscular dystrophy', 'Teratoma, pineal', 'Hyperthermia, cutaneous, with headaches and nausea', 'Insulin-Like growth factor I deficiency', 'Combined oxidative phosphorylation deficiency 44', 'Lethal congenital contracture syndrome 1', 'Dyskeratosis congenita, autosomal recessive 6', 'Myoglobinuria, acute recurrent, autosomal recessive', 'Woronets trait', 'Thrombocytopenia 1', 'Central hypoventilation syndrome, congenital, 3', 'Focal segmental glomerulosclerosis 6', 'Peroxisomal acyl-CoA oxidase deficiency', 'Crigler-Najjar syndrome, type I', 'Pseudohypoaldosteronism, type IIB', 'Oculoskeletodental syndrome', 'Mitochondrial complex I deficiency, nuclear type 23', 'Trichohepatoneurodevelopmental syndrome', 'Mucopolysaccharidosis, type VI', 'Molybdenum cofactor deficiency, complementation group A', 'Hemolytic anemia with thermal sensitivity of red cells', 'Pancreatic agenesis 2', 'Mitochondrial short-chain enoyl-coa hydratase 1 deficiency', 'Cystinosis, late-onset juvenile or adolescent nephropathic', 'Arterial calcification, generalized, of infancy, 2', 'Poikiloderma with neutropenia', 'Short stature and microcephaly with genital anomalies', 'Pontocerebellar hypoplasia, type 6', 'Exudative vitreoretinopathy 4', 'Heterotaxy, visceral, 12, autosomal', 'Combined oxidative phosphorylation deficiency 24', 'Combined oxidative phosphorylation deficiency 29', 'Cranioacrofacial syndrome', 'Duodenal ulcer, hyperpepsinogenemic I', 'Nephrotic syndrome, type 3', 'Charcot-Marie-Tooth disease, type 4K', 'Thrombocytopenia-absent radius syndrome', 'Weill-Marchesani syndrome 3', 'Immunodeficiency 14', 'Dihydropyrimidine dehydrogenase deficiency', 'Familial expansile osteolysis', 'Hyperalphalipoproteinemia 1', 'Spondyloepimetaphyseal dysplasia, Krakow type', 'Mucolipidosis II alpha/beta', 'Fetal hemoglobin quantitative trait locus 1', 'Severe combined immunodeficiency, X-linked', 'Bone fragility with contractures, arterial rupture, and deafness', 'Nestor-Guillermo progeria syndrome', 'Revesz syndrome', 'Immunodeficiency, common variable, 12', 'Congenital disorder of deglycosylation 1', 'Thyrotoxic periodic paralysis, susceptibility to, 1', 'Glucocorticoid resistance', 'Cardiofacioneurodevelopmental syndrome', 'Bleeding disorder, platelet-type, 22', 'Peroxisome biogenesis disorder 1B', 'Disorganization, mouse, homolog of', 'Microcephaly, postnatal progressive, with seizures and brain atrophy', 'Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1', 'Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1', 'Heterotaxy, visceral, 1, X-linked', 'Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia', 'Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus', 'Bruck syndrome 2', 'Deafness, nerve type, with mesenteric diverticula of small bowel andprogressive sensory neuropathy', 'Hyperinsulinemic hypoglycemia, familial, 2', 'Encephalopathy, acute, infection-induced, susceptibility to, 4', 'Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia', 'RECON progeroid syndrome', 'Seckel syndrome 4', 'Hennekam lymphangiectasia-lymphedema syndrome 2', 'Antithrombin III deficiency', 'Rhizomelic syndrome', 'Fanconi anemia, complementation group W', 'Mitochondrial complex IV deficiency, nuclear type 23', 'Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome', 'Cerebrooculofacioskeletal syndrome 1', 'Spinal muscular atrophy, distal, autosomal recessive, 1', 'Hemolytic anemia, congenital, X-linked', 'Hyperlysinemia, type I', 'Plasma fibronectin deficiency', 'Galactokinase deficiency', 'Microcephaly 19, primary, autosomal recessive', 'Hermansky-Pudlak syndrome 5', 'Proprotein convertase 1/3 deficiency', 'Retinal dystrophy and microvillus inclusion disease', 'Hyperlysinuria with hyperammonemia', 'Thyrocerebroretinal syndrome', 'Mesoaxial hexadactyly and cardiac malformation', 'Immunodeficiency 36', 'Plasminogen deficiency, type I', 'Heparin cofactor II deficiency', 'Smith-Lemli-Opitz syndrome', 'Leber optic atrophy and dystonia', 'Congenital disorder of glycosylation, type IIt', 'Geleophysic dysplasia 2', 'Hypogonadotropic hypogonadism 4 with or without anosmia', 'Breath-Holding spells', 'Immunodeficiency 55', 'Ruijs-Aalfs syndrome', 'Ataxia-telangiectasia', 'Amyotrophic lateral sclerosis 4, juvenile', 'Mitochondrial DNA depletion syndrome 4B (mngie type)', 'Cutis laxa, autosomal recessive, type IC', 'Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy', 'Amyotrophic lateral sclerosis 1', 'Flaujeac factor deficiency', 'Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency', 'Mitochondrial complex IV deficiency, nuclear type 19', 'Combined oxidative phosphorylation deficiency 32', 'Cleidocranial dysplasia 2', 'Osteopetrosis, autosomal dominant 1', 'Edema, familial idiopathic, prepubertal', 'Bardet-Biedl syndrome 12', 'Nephrotic syndrome, type 9', 'Pyruvate dehydrogenase e1-alpha deficiency', 'Bloom syndrome', 'Barth syndrome', 'Diabetes, permanent neonatal 2, with or without neurologic features', 'Pulmonary hemosiderosis', 'Mandibuloacral dysplasia', 'Neurodegeneration and seizures due to copper transport defect', 'Lactic acidosis, chronic adult form', 'Chromosome 14q32 duplication syndrome, 700-kb', 'Calcific aortic disease with immunologic abnormalities, familial', 'Chromosome 15q25 deletion syndrome', 'Dyskeratosis congenita, digenic', 'Mannose-Binding lectin deficiency', 'Ovarian dysgenesis 1', 'Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2', 'Polycystic kidneys', 'Mitochondrial complex I deficiency, nuclear type 19', 'Polycystic kidney disease 5', 'Dyskeratosis congenita, autosomal recessive, 3', 'Amyotrophic lateral sclerosis 23', 'Hypocalciuric hypercalcemia, familial, type III', 'Osteogenesis imperfecta, type XVII', 'Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency', 'DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION', 'Osteogenesis imperfecta, type XIII', 'Desmosterolosis', 'Combined oxidative phosphorylation deficiency 54', 'Hypogonadotropic hypogonadism 17 with or without anosmia', 'Short-rib thoracic dysplasia 12', 'Vascular hyalinosis', 'L-ferritin deficiency, dominant and recessive', 'Hermansky-Pudlak syndrome 10', 'Stiff-Person syndrome', 'Methemoglobinemia, Beta type', 'Short rib-polydactyly syndrome, type VI', 'Psoriasis 14, pustular', 'Congenital prothrombin deficiency', 'Lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmunehemolytic anemia, and glomerulonephritis', 'Metaphyseal chondrodysplasia, Jansen type', 'Grange syndrome', 'Flynn-Aird syndrome', 'Congenital disorder of glycosylation, type Ik', 'Aortic aneurysm, abdominal', 'Osteopenia and sparse hair', 'Fanconi anemia, complementation group J', 'Hemolytic disease of fetus and newborn, RH-induced', 'Cockayne syndrome, type B', 'Developmental delay with or without intellectual impairment or behavioral abnormalities', 'Leukodystrophy, hypomyelinating, 4', 'Hyperphosphatasia with mental retardation syndrome 6', 'Fg syndrome 2', 'Transcobalamin I deficiency', 'Bleeding disorder, platelet-type, 18', 'Peroxisome biogenesis disorder 6B', 'Telangiectasia, hereditary hemorrhagic, type 5', 'Microcephaly, growth restriction, and increased sister chromatid exchange 2', 'Nephrotic syndrome, type 8', 'Hypothyroidism, congenital, nongoitrous, 8', 'Mitochondrial complex I deficiency, nuclear type 31', 'Cerebral creatine deficiency syndrome 3', 'Harel-Yoon syndrome', 'Histiocytosis, familial lipochrome', 'Cardiomyopathy, dilated, 1I', 'Temple syndrome', 'Neutropenia, severe congenital, 8, autosomal dominant', 'Macrothrombocytopenia, autosomal dominant, tubb1-related', 'Cole-Carpenter syndrome 1', 'Malignant atrophic papulosis', 'Optic atrophy 11', 'Porphyria cutanea tarda, type I', 'Deafness, congenital, and adult-onset progressive leukoencephalopathy', 'Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency', 'Myopathy, congenital, with fiber-type disproportion', 'Arterial calcification, generalized, of infancy, 1', 'Peroxisome biogenesis disorder 5B', 'Mucopolysaccharidosis type IIIC', 'Myoclonic epilepsy of Lafora', 'Lipodystrophy, familial partial, type 7', 'Striatonigral degeneration, infantile', 'Coenzyme Q10 deficiency, primary, 8', 'Congenital myopathy 18 due to dihydropyridine receptor defect', 'Dyskeratosis congenita, autosomal recessive 8', 'Bent bone dysplasia syndrome 2', 'Emery-Dreifuss muscular dystrophy 3, autosomal recessive', 'Congenital disorder of glycosylation, type IF', 'Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster', 'Meier-Gorlin syndrome 4', 'Immunodeficiency 67', 'Immunodeficiency 23', 'PYKNOACHONDROGENESIS', 'Protoporphyria, erythropoietic, X-linked', 'Cutis laxa, autosomal recessive, type IIB', 'Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1', 'Biliary cirrhosis, primary', 'Osteogenesis imperfecta, type I', 'Ophthalmoplegic neuromuscular disorder with abnormal mitochondria', 'Diarrhea 8, secretory sodium, congenital', 'Laterality defects, autosomal dominant', 'Tuftsin deficiency', 'Epidermolysis bullosa simplex with muscular dystrophy', 'Cleft lip/palate with abnormal thumbs and microcephaly', 'Congenital disorder of glycosylation, type Ig', 'Hypertrophic osteoarthropathy, primary, autosomal recessive 1', 'Methylmalonate semialdehyde dehydrogenase deficiency', 'Interstitial pneumonitis, desquamative, familial', 'Megaloblastic anemia 1', 'Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy', 'Body mass index quantitative trait locus 19', 'Plasmin inhibitor deficiency', 'Growth hormone deficiency, isolated, type IA', 'Neurodegeneration with brain iron accumulation 8', 'Congenital disorder of glycosylation, type IIy', 'Chondrodysplasia, Blomstrand type', 'Calcification of joints and arteries', 'Pyruvate dehydrogenase e3-binding protein deficiency', 'Macrothrombocytopenia, isolated, 2, autosomal dominant', 'Moyamoya disease 2, susceptibility to', 'Williams-Beuren syndrome', 'Congenital heart defects, multiple types, 8, with or without heterotaxy', 'Frontotemporal dementia and/or amyotrophic lateral sclerosis 6', 'Methemoglobinemia, Alpha type', 'Combined oxidative phosphorylation deficiency 25', 'Spondyloepimetaphyseal dysplasia, DI Rocco type', 'Macrocephaly/autism syndrome', 'Antiphospholipid syndrome, familial', 'Sarcoidosis, susceptibility to, 2', 'Leukodystrophy, hypomyelinating, 21', 'Hypomagnesemia 3, renal', 'Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness', 'Psychomotor retardation, epilepsy, and craniofacial dysmorphism', 'OSTEOMESOPYKNOSIS', 'Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant', 'Frontotemporal dementia and/or amyotrophic lateral sclerosis 3', 'Hypouricemia, renal, 2', 'Joubert syndrome 33', 'Lymphatic malformation 13', 'Aspartylglucosaminuria', 'Ullrich congenital muscular dystrophy 1', 'Aromatic L-amino acid decarboxylase deficiency', 'Mitochondrial complex I deficiency, nuclear type 2', 'Immunodeficiency 81', 'Multiple endocrine neoplasia, type IIB', 'Neurodegeneration, childhood-onset, with progressive microcephaly', 'Factor X deficiency', 'Immunoglobulin kappa light chain deficiency', 'Microcephaly, epilepsy, and diabetes syndrome', 'Neuropathy, hereditary motor and sensory, Okinawa type', 'Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis', 'Mitochondrial complex I deficiency, nuclear type 17', 'Glucocorticoid deficiency 1', 'Pseudodiastrophic dysplasia', 'Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia', 'Primary lateral sclerosis, adult', 'Bent bone dysplasia syndrome', 'Cranioectodermal dysplasia 2', 'Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5', 'Epileptic encephalopathy, early infantile, 46', 'Galloway-Mowat syndrome 3', 'Glutathioninuria', 'Congenital heart defects, multiple types, 5', 'Mulibrey nanism', 'Aicardi-Goutieres syndrome 5', 'Factor XII deficiency', 'Hamamy syndrome', 'Epileptic encephalopathy, early infantile, 75', 'Mucolipidosis III alpha/beta', 'Paget disease of bone 2, early-onset', 'Metaphyseal modeling abnormality, skin lesions, and spastic paraplegia', 'Meckel syndrome, type 6', 'Friedreich ataxia 2', 'Mitochondrial complex II deficiency', 'Fanconi renotubular syndrome 5', 'Diarrhea 6', '3-methylglutaconic aciduria, type IX', 'Mitochondrial complex III deficiency, nuclear type 4', 'Thrombophilia, hereditary, due to protein S deficiency, autosomal', 'NONDISJUNCTION', 'Chronic granulomatous disease 3, autosomal recessive', 'Singleton-Merten syndrome 1', 'Congenital heart defects, multiple types, 9', 'Joubert syndrome 8', 'WHIM syndrome 2', 'Spondyloocular syndrome', 'Cutis laxa, autosomal dominant 3', 'Myopathy, myofibrillar, 1', 'Silver-Russell syndrome 3', 'Neurodevelopmental disorder with epilepsy and brain atrophy', 'Pigmented nodular adrenocortical disease, primary, 1', 'Lethal congenital contracture syndrome 5', 'Cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction', 'Noonan syndrome 9', 'Caffey disease', 'Cardiomyopathy, dilated, with woolly hair and keratoderma', 'Charcot-Marie-Tooth disease, axonal, type 2EE', 'Frontotemporal dementia and/or amyotrophic lateral sclerosis 4', 'Mitochondrial complex I deficiency, nuclear type 36', 'Primary aldosteronism, seizures, and neurologic abnormalities', 'Multiple congenital anomalies-neurodevelopmental syndrome, X-linked', 'Basal ganglia calcification, idiopathic, childhood-onset', 'Diabetes insipidus, Neurohypophyseal type', 'Maturity-onset diabetes of the young, type 10', 'Cyclic neutropenia', 'Pseudoxanthoma elasticum, forme fruste', 'Arthrogryposis, perthes disease, and upward gaze palsy', 'Factor V and factor VIII, combined deficiency of', 'Cardiomyopathy, dilated, 1L', 'Multiple sulfatase deficiency', 'Angioedema, hereditary, 3', 'Combined oxidative phosphorylation deficiency 39', 'Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus,photomyoclonus, and degenerative neurologic disease', 'Bleeding disorder, platelet-type, 12', 'Growth hormone insensitivity with immune dysregulation 1, autosomal recessive', 'Vici syndrome', 'HISTIDINEMIA', 'Muscular dystrophy, Cardiac type', 'Lipase deficiency, combined', 'Myopathy, congenital, compton-north', 'Hurler syndrome', 'Mastocytosis, cutaneous', 'Greenberg skeletal dysplasia', 'Visceral myopathy 1', 'Short-Rib thoracic dysplasia 4 with or without polydactyly', 'Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin', 'Mitochondrial complex II deficiency, nuclear type 4', 'Thrombophilia due to thrombomodulin defect', 'Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6', 'Combined D-2- and L-2-hydroxyglutaric aciduria', 'Short stature, microcephaly, and endocrine dysfunction', 'Fanconi-Like syndrome', 'Meconium ileus', 'Noonan syndrome 6', 'Short-Rib thoracic dysplasia 7 with or without polydactyly', 'Congenital heart defects, multiple types, 2', 'Achondrogenesis, type IB', 'Dibasic amino aciduria I', 'Malignant hyperthermia, susceptibility to, 5', 'Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency', 'Arthropathy, progressive pseudorheumatoid, of childhood', 'Brachyolmia type 1, Hobaek type', 'Microcephaly, short stature, and impaired glucose metabolism 1', 'Alpha-methylacyl-CoA racemase deficiency', 'Osteogenesis imperfecta, type IV', 'Rhizomelic chondrodysplasia punctata, type 1', 'Diabetes mellitus, noninsulin-dependent', 'Pulmonary fibrosis, idiopathic', 'Cardiac lipidosis, familial', 'Systemic lupus erythematosus 17', 'Muscular dystrophy, limb-girdle, autosomal recessive 18', 'Trehalase deficiency', 'Esophagitis, eosinophilic, 1', 'Esophagitis, eosinophilic, 2', 'Alpha-mannosidosis', 'Muscular dystrophy, progressive pectorodorsal', 'Inflammatory bowel disease 11', 'Leukodystrophy, hypomyelinating, 13', 'Pyruvate dehydrogenase E2 deficiency', 'Hermansky-Pudlak syndrome 7', 'Noonan syndrome 10', 'Hirschsprung disease, susceptibility to, 1', 'Eiken syndrome', 'Cardiomyopathy, dilated, 2F', 'Reticular dysgenesia', 'Agammaglobulinemia 6, autosomal recessive', 'Pontocerebellar hypoplasia, type 1C', 'Thrombophilia due to deficiency of activated protein C cofactor', 'Hypoplastic left heart syndrome', 'Hypoadrenocorticism, familial', 'Cimdag syndrome', 'Lymphedema and cerebral arteriovenous anomaly', 'Bowen-Conradi syndrome', 'Heterotaxy, visceral, 2, autosomal', 'Mahvash disease', 'Bruck syndrome 1', 'Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency', 'Osteogenesis imperfecta, type VIII', 'Cardiomyopathy, dilated, 1II', 'Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps', 'Netherton syndrome', 'Pulmonary edema of mountaineers', 'Welander distal myopathy', 'Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures', 'Osteosclerosis with ichthyosis and fractures', 'Cerebellar vermis aplasia with associated features suggesting smith-lemli-opitzsyndrome and meckel syndrome', 'Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia', 'Polycystic liver disease 3 with or without kidney cysts', 'Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital', 'Diamond-Blackfan anemia 14 with mandibulofacial dysostosis', 'Encephalopathy, acute, infection-induced, susceptibility to, 9', 'Encephalopathy, progressive, with or without lipodystrophy', 'Craniodiaphyseal dysplasia, autosomal dominant', 'Developmental and epileptic encephalopathy 44', 'Meier-Gorlin syndrome 2', 'Hypothyroidism, congenital, nongoitrous, 2', 'Pituitary hormone deficiency, combined, 6', 'Glycogen storage disease XIII', 'Familial cold inflammatory syndrome 1', 'Hypophosphatasia, childhood', 'Nijmegen breakage syndrome', 'Developmental and epileptic encephalopathy 62', 'Bartter syndrome, type 4A, neonatal, with sensorineural deafness', 'Immunodeficiency 89 and autoimmunity', 'Acetyl-Coa acetyltransferase-2 deficiency', 'Chromosome 1p36 deletion syndrome, proximal', 'Methionine adenosyltransferase I/III deficiency', 'Gastrointestinal stromal tumor', 'Arthrogryposis multiplex congenita 5', 'EOSINOPHILOPENIA', 'Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities', 'Meckel syndrome 14', 'Thrombophiliavenous thromboembolism, included', 'Smith-Kingsmore syndrome', 'Hyperphenylalaninemia, BH4-deficient, A', 'Hypogonadotropic hypogonadism 26 with or without anosmia', 'Hyperinsulinemic hypoglycemia, familial, 4', 'Mental retardation, autosomal recessive 27', 'Faciocardiomelic syndrome', 'Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency', 'Surfactant metabolism dysfunction, pulmonary, 4', 'Microcephaly, growth deficiency, seizures, and brain malformations', 'Schindler disease, type I', 'Meier-Gorlin syndrome 5', 'Distichiasis with congenital anomalies of the heart and peripheral', 'Peroxisome biogenesis disorder 10A (Zellweger)', 'Cortisone reductase deficiency 2', 'Hypotonia, infantile, with psychomotor retardation and characteristic facies 2', 'Anemia, sideroblastic, and spinocerebellar ataxia', 'Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked', 'Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities', 'Hyperinsulinemic hypoglycemia, familial, 7', 'Epileptic encephalopathy, early infantile, 86', 'Neuropathy, hereditary sensory and autonomic, type III', 'Ciliary dyskinesia, primary, 16', 'Myopathy with extrapyramidal signs', 'Mucopolysaccharidosis, type II', 'Leiomyomatosis, diffuse, with alport syndrome', 'Phenylketonuria', 'Branchial arch syndrome, X-linked', 'Developmental and epileptic encephalopathy 96', 'Globulin anomaly involving beta (2a)-globulin', 'Cardiac-Urogenital syndrome', 'Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia', 'Lambert syndrome', 'Chromosome 16p13.3 deletion syndrome', 'Porphyria variegata', 'Immunodeficiency 25', 'Maturity-onset diabetes of the young, type 11', 'C syndrome', 'Glycosylphosphatidylinositol biosynthesis defect 25', 'ACCES syndrome', 'Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction', 'Amyotrophic lateral sclerosis 18', 'Celiac artery stenosis from compression by median arcuate ligamentof diaphragm', 'Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination', 'Cardiomyopathy, familial hypertrophic, 8', 'Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis', 'Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies', 'Diabetes insipidus, nephrogenic, X-linked', 'Macrocephaly, alopecia, cutis laxa, and scoliosis', 'Leukodystrophy, hypomyelinating, 18', 'Mucopolysaccharidosis IVA', 'Cerebral cavernous malformations 1', 'Xanthomatosis, susceptibility to', 'Immunodeficiency 62', 'Thyroid hormone metabolism, abnormal, 2', 'Microcephaly 23, primary, autosomal recessive', 'Cerebroretinal microangiopathy with calcifications and cysts 3', 'Cardiac valvular dysplasia, X-linked', 'Pseudoxanthoma elasticum', 'Pseudopseudohypoparathyroidism', 'Avascular necrosis of femoral head, primary, 1', 'Heterotaxy, visceral, 7, autosomal', 'Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies', 'Sertoli cell-only syndrome', 'Lymphatic malformation 9', 'Platelet prostacyclin receptor defect', 'Thyroid hormone resistance, generalized, autosomal recessive', 'Diaphyseal medullary stenosis with malignant fibrous histiocytoma', 'Alpha-Fetoprotein deficiency', 'Alpha-Fetoprotein, hereditary persistence of', 'Congenital disorder of glycosylation, type Id', 'GM1-gangliosidosis, type III', 'Conotruncal heart malformations', 'Hepatic adenomas, familial', 'Combined oxidative phosphorylation deficiency 15', 'Microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome', 'Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant', 'Neuronopathy, distal hereditary motor, type VIIB', 'Ondontochondrodysplasia 2 with hearing loss and diabetes', 'Immunodeficiency 32A', 'Diarrhea 11, malabsorptive, congenital', 'Molybdenum cofactor deficiency, complementation group B', 'Myeloproliferative disorder, chronic, with eosinophilia', 'Micromelic bone dysplasia with cloverleaf skull', 'Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3', 'Pseudohypoparathyroidism, type IB', 'Aortic valve disease 3', 'Secretory component deficiency', 'Aortic aneurysm, familial thoracic 6', 'Fibrodysplasia ossificans progressiva', 'Polycystic liver disease 4 with or without kidney cysts', 'Yellow nail syndrome', 'Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance', 'INTERLEUKIN 1, DEFECTIVE T-CELL RESPONSE TO', 'Deafness, autosomal dominant 34, with or without inflammation', 'Epiphyseal dysplasia, multiple, 3, with or without myopathy', 'Congenital disorder of glycosylation, type IAA', 'Vasculitis, lymphocytic, nodular', 'Rhyns syndrome', 'Epilepsy, early-onset, vitamin b6-dependent', 'Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies', 'ENDOVE syndrome, limb-brain type', 'Osteogenesis imperfecta, type XIV', 'Watson syndrome', 'Congenital myopathy 15', 'Hyper-IgE recurrent infection syndrome 5, autosomal recessive', 'Diastasis recti and weakness of the linea alba', 'Osteopoikilosis and dacryocystitis', 'CHIME syndrome', 'Pseudohypoparathyroidism, type IA', 'PERCHING syndrome', 'Polyendocrine-polyneuropathy syndrome', 'Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections', 'Pontocerebellar hypoplasia, type 14', 'Growth hormone deficiency, isolated partial', 'Galloway-Mowat syndrome 6', 'Osteogenesis imperfecta, type V', 'Martinez-Frias syndrome', 'Congenital disorder of glycosylation with defective fucosylation 2', 'Microcephaly 22, primary, autosomal recessive', 'Osteopetrosis, autosomal recessive 6', 'Developmental delay with hypotonia, myopathy, and brain abnormalities', 'Mental retardation, skeletal dysplasia, and abducens palsy', 'Fever, familial lifelong persistent', 'Spastic tetraplegia and axial hypotonia, progressive', 'Central core disease', 'Weill-Marchesani syndrome 1', 'Methionine malabsorption syndrome', 'Osteogenesis imperfecta, type XII', 'Vasculopathy, retinal, with cerebral leukodystrophy', 'Hypertrichotic osteochondrodysplasia', 'Tyshchenko syndrome', 'Bleeding disorder, platelet-type, 13, susceptibility to', 'Immunodeficiency, common variable, 13', 'Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)', 'Cramps, familial adolescent', 'Leukocyte adhesion deficiency, type I', 'Disabling pansclerotic morphea of childhood', 'Agammaglobulinemia, X-linked', 'Thalassemia, beta+, silent allele', 'Intellectual developmental disorder, autosomal dominant 70', 'Pseudohypoparathyroidism, type IC', 'Pontocerebellar hypoplasia, type 2E', 'Aortic valve disease 1', 'Cardiomyopathy, dilated, 1B', 'Myopathy, congenital, nonprogressive', 'Developmental and epileptic encephalopathy 73', 'Cardiomyopathy, dilated, 2G', 'Neurodegeneration, childhood-onset, with brain atrophy', 'Cardiomyopathy, dilated, 3B', 'Epidermolysis bullosa, junctional, Herlitz type', 'Myopathy, autophagic vacuolar, infantile-onset', 'Roifman syndrome', 'Intellectual developmental disorder, autosomal recessive 60', 'Hypogonadism, male, with mental retardation and skeletal anomalies', 'Spondyloepiphyseal dysplasia with congenital joint dislocations', 'Glycogen storage disease V', 'Fibromuscular dysplasia of arteries', 'Citrulline transport defect', 'Noonan syndrome 11', 'Sialuria', 'Congenital heart defects, multiple types, 4', 'Epileptic encephalopathy, early infantile, 80', 'Short-rib thoracic dysplasia 15 with polydactyly', 'IVIC syndrome', 'Amyloidosis VI', 'Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development', 'Tenorio syndrome', 'Portal vein, cavernous transformation of', 'Hyperthyroidism, nonautoimmune', 'Pituitary dwarfism IV', 'Spondyloarthropathy, susceptibility to, 2', 'Fanconi anemia, complementation group I', 'Anhidrosis, isolated, with normal sweat glands', 'Pheochromocytoma-Islet cell tumor syndrome', 'Lymphoblastic leukemia, acute, with lymphomatous features', 'Cardiofaciocutaneous syndrome 1', 'Lipedema', 'Combined oxidative phosphorylation deficiency 51', 'Seizures, scoliosis, and macrocephaly/microcephaly syndrome', 'Premature centromere division', 'Hajdu-Cheney syndrome', 'Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities', 'Ovarian dysgenesis 4', 'Geroderma osteodysplasticum', 'Arterial tortuosity syndrome', 'Sudden infant death syndrome', 'Ehlers-Danlos syndrome, spondylodysplastic type, 2', 'Rauch-Steindl syndrome', 'Immunodeficiency 96', 'Achondroplasia, so-called, and severe combined immunodeficiency', 'Lymphoma, hodgkin', 'PYGMY', 'Hyper-IgE recurrent infection syndrome', 'Coffin-Siris syndrome 8', 'Microphthalmia, syndromic 9', 'Williams-Beuren region duplication syndrome', 'Cutaneous photosensitivity and colitis, lethal', 'Hyperekplexia 3', 'Spinocerebellar ataxia, autosomal recessive 23', 'Polycystic kidney disease 6 with or without polycystic liver disease', 'Yunis-Varon syndrome', 'Deafness, unilateral, with delayed endolymphatic hydrops', 'Tessadori-van Haaften neurodevelopmental syndrome 1', 'Salt and pepper developmental regression syndrome', 'T-SUBSTANCE ANOMALY', 'Alport syndrome, X-linked', 'Birk-Landau-Perez syndrome', 'Orthostatic hypotensive disorder, Streeten type', 'Monocyte chemotactic disorder', 'Osteoporosis-pseudoglioma syndrome', 'Nephrotic syndrome, type 11', 'Charcot-Marie-Tooth disease, demyelinating, type 1F', 'CHOREOACANTHOCYTOSIS', 'Mental retardation, autosomal dominant 47', 'Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment', 'Factor V excess with spontaneous thrombosis', 'Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies', 'Malouf syndrome', 'Cat eye syndrome', 'Nephrotic syndrome, type 22', 'Mucolipidosis IV', 'Periventricular heterotopia with microcephaly, autosomal recessive', 'Goodpasture syndrome', 'Microcephaly 21, primary, autosomal recessive', 'Hyperostosis, endosteal', 'Sucrosuria, hiatus hernia and mental retardation', 'Chromosome 3q29 deletion syndrome', 'Intellectual developmental disorder, autosomal dominant 51', 'PHEOCHROMOCYTOMA', 'Ichthyosis, congenital, autosomal recessive 4B', 'Muscle cramps, familial', 'Spondylo-megaepiphyseal-metaphyseal dysplasia', 'Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction', 'Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia', 'Hypomagnesemia, seizures, and mental retardation', 'Lissencephaly 7 with cerebellar hypoplasia', 'Loeys-Dietz syndrome 2', 'Myopathy with storage of glycoproteins and glycosaminoglycans', 'Nephrotic syndrome, type 14', 'Fraser syndrome 3', 'Trichodentoosseous syndrome', 'Familial cold autoinflammatory syndrome 4', 'Hypogonadotropic hypogonadism 9 with or without anosmia', 'Cardiomyopathy, dilated, 1E', 'Intellectual developmental disorder, autosomal dominant 33', 'Warburg micro syndrome 1', 'Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus', 'Leukodystrophy, childhood-onset, remitting', 'Osteogenesis imperfecta 21', 'Cornea plana 1', 'Acanthosis nigricans with muscle cramps and acral enlargement', 'Lymphedema, hereditary, II', 'Radial heads, posterior dislocation of', 'Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form', 'Polyglucosan body neuropathy, adult form', 'Chronic recurrent multifocal osteomyelitis', 'Hypophosphatemic rickets, X-linked recessive', 'Fibrochondrogenesis 2', 'Immunodeficiency, common variable, 14', 'Sick sinus syndrome 4', 'Intellectual developmental disorder, autosomal dominant 43', 'Dimethylglycine dehydrogenase deficiency', 'Osteoporosis, childhood- or juvenile-onset, with developmental delay', 'Gastroschisisabdominal wall defects, included', 'Mitochondrial DNA depletion syndrome 2 (myopathic type)', 'Adiposis dolorosa', 'Bartter syndrome, type 3', 'Amyotrophic lateral sclerosis 5, juvenile', 'Cardiac, facial, and digital anomalies with developmental delay', 'Proximal myopathy with focal depletion of mitochondria', '3-M syndrome 3', 'Epileptic encephalopathy, early infantile, 68', 'Hypoinsulinemic hypoglycemia with hemihypertrophy', 'Intellectual developmental disorder, autosomal recessive 41', 'Cardiomyopathy, dilated, 1S', 'Hereditary leiomyomatosis and renal cell cancer', 'Heterotaxy, visceral, 5', 'Fanconi anemia, complementation group N', 'Histiocytosis, progressive mucinous', 'Congenital heart defects, hamartomas of tongue, and polysyndactyly', 'Infantile cerebellar-retinal degeneration', 'Neutropenia, severe congenital, 2, autosomal dominant', 'Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities', 'Ehlers-Danlos syndrome, kyphoscoliotic type, 2', 'Intellectual developmental disorder, autosomal dominant 45', 'Progressive familial heart block, type IB', 'Immunodeficiency with hyper-igm, type 3', 'Ehlers-Danlos syndrome, Vascular type', 'Hyperproinsulinemia', 'Alpha-2-deficient collagen disease', 'Silver-Russell syndrome 1', 'Heterotaxy, visceral, 9, autosomal, with male infertility', 'Hutterite cerebroosteonephrodysplasia syndrome', 'Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease', 'Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects', 'Muckle-Wells syndrome', 'Myopathy, areflexia, respiratory distress, and dysphagia, early-onset', 'Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive', 'DYSOSTEOSCLEROSIS', 'Perrault syndrome 4', 'Neuropathy, congenital hypomyelinating, 1, autosomal recessive', 'Long QT syndrome 13', 'Lymphoid interstitial pneumonia', 'Loeys-Dietz syndrome 3', 'Inflammatory bowel disease (Crohn disease) 30', 'Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3', 'Ehlers-Danlos syndrome, classic-like, 2', 'Immunodeficiency 68', 'Periodic fever, menstrual cycle-dependent', 'Arrhythmogenic right ventricular dysplasia, familial, 11', 'Inflammatory bowel disease 1, Crohn disease', 'Congenital disorder of glycosylation, type Ij', 'Leber congenital amaurosis, type I', 'Leukodystrophy, hypomyelinating, 11', 'Pyle disease', 'Cardiomyopathy, dilated, 1D', 'Megalocornea-Mental retardation syndrome', 'Familial Mediterranean fever, AD', 'Mental retardation, autosomal recessive 53', 'Volvulus of midgut', 'Congenital myopathy 2B, severe infantile, autosomal recessive', 'Spondyloenchondrodysplasia with immune dysregulation', 'White sponge nevus 2', 'Angioma, hereditary neurocutaneousspinal arterial venous malformations with cutaneous hemangiomas, included', 'Muscular dystrophy, congenital, merosin deficient or partially deficient', 'Congenital disorder of glycosylation, type Ip', 'Brugada syndrome 3', 'Amyotrophic lateral sclerosis, juvenile, with dementia', 'Multisystemic smooth muscle dysfunction syndrome', 'Epileptic encephalopathy, early infantile, 40', 'Parkinson disease 4', 'Takenouchi-Kosaki syndrome', 'Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5', 'Developmental and epileptic encephalopathy 109', 'Short QT syndrome 1', 'Eosinophil peroxidase deficiency', 'Weill-Marchesani syndrome 2, dominant', 'Short-Rib thoracic dysplasia 5 with or without polydactyly', 'Neurodevelopmental disorder with hypotonia and dysmorphic facies', 'Osteogenesis imperfecta, type XVIII', 'Epistaxis, hereditary', 'Neurodegeneration with brain iron accumulation 4', 'Thyrotoxic periodic paralysis, susceptibility to, 2', 'Neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux', 'Venous malformations, multiple cutaneous and mucosal', 'Developmental and epileptic encephalopathy 102', 'Bethlem myopathy 1', 'Ehlers-Danlos syndrome, kyphoscoliotic type, 1', 'Inosine phosphorylase deficiency, immune defect due to', 'Renal glucosuria', 'Achondrogenesis, type II', 'Gastric adenocarcinoma and proximal polyposis of the stomach', 'Cardiomyopathy, familial hypertrophic, 6', 'Friedreich ataxia 1', 'Marinesco-Sjogren syndrome', 'Nemaline myopathy 3', 'Endocardial fibroelastosis and coarctation of abdominal aorta', 'Mucopolysaccharidosis VII', 'Neurodegeneration with ataxia and late-onset optic atrophy', 'Short QT syndrome 2', 'Rabin-Pappas syndrome', 'Nephronophthisis 3', 'Cardiac conduction disease with or without dilated cardiomyopathy', 'Nephronophthisis 13', 'Yao syndrome', 'Aneurysm, intracranial berry, 12', 'Lessel-Kreienkamp syndrome', 'Ehlers-Danlos syndrome, arthrochalasia type, 1', 'Spondyloepiphyseal dysplasia with punctate corneal dystrophy', 'Pontocerebellar hypoplasia, type 9', 'Alveolar capillary dysplasia with misalignment of pulmonary veins', 'Metaphyseal chondrodysplasia, Pena type', 'Cutis laxa, autosomal recessive, type IB', 'Aortic aneurysm, familial thoracic 10', 'Neurodevelopmental disorder with or without seizures and gait abnormalities', 'Polycystic ovary syndrome 1', 'Rheumatoid arthritis', 'Popliteal cyst', 'Ciliary discoordination due to random ciliary orientation', 'Arrhythmogenic right ventricular dysplasia, familial, 9', 'Microcephaly, developmental delay, and brittle hair syndrome', 'Neural tube defects, folate-sensitive', 'Megacystis-microcolon-intestinal hypoperistalsis syndrome 1', 'Maturity-onset diabetes of the young, type III', 'Ritscher-Schinzel syndrome 1', 'Magnesium, elevated red cell', 'AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF', 'Zinc, elevated plasma', 'Neuronal intestinal dysplasia, type B', 'Paraoxonase 1', 'Sodium-Potassium-Atpase activity of red cell', 'Acetylation, slow', 'HYPOASCORBEMIA', 'Drug metabolism, altered, CES1-related', 'Charcot-Marie-Tooth disease, axonal, type 2K', 'Polysaccharide, storage of unusual', 'Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay', 'Aortic aneurysm, familial thoracic 8', 'Surfactant metabolism dysfunction, pulmonary, 1', 'Neutrophil actin dysfunction', 'Arrhythmogenic right ventricular dysplasia, familial, 10', 'Immunodeficiency 93 and hypertrophic cardiomyopathy', 'Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis', 'Pulmonary hypertension, primary, 4', 'Atrial fibrillation, familial, 3', 'Noonan syndrome 7', 'Osteogenesis imperfecta, type VII', 'Cerebral amyloid angiopathy, APP-related', 'Cardiomyopathy, familial hypertrophic 27', 'Spinal muscular atrophy with progressive myoclonic epilepsy', 'Cardiomyopathy, dilated, 1P', 'Nephronophthisis 12', 'Oocyte maturation defect 2', 'Telangiectasia, hereditary hemorrhagic, type 4', 'Spinal arachnoiditis', 'Purpura simplex', 'Plasma clot retraction factor, deficiency of', 'Brugada syndrome 1', 'Neurocardiofaciodigital syndrome', 'Arthrogryposis multiplex congenita with whistling face', 'Filaminopathy, autosomal dominant', 'Spondylocostal dysostosis, autosomal recessive 1', 'Hyperprolactinemia', 'Acute promyelocytic leukemia', 'Mosaic variegated aneuploidy syndrome 1', 'Spinal muscular atrophy, distal, autosomal recessive, 4', 'Thrombophilia due to protein C deficiency, autosomal recessive', 'Boudin-Mortier syndrome', 'Aneurysm, intracranial berry, 1', 'Noonan syndrome 2', 'Visceral myopathy 2', 'MEDULLOBLASTOMA', 'Amyotrophic lateral sclerosis with polyglucosan bodies', 'Meckel syndrome, type 10', 'Ethanolaminosis', 'Immunodeficiency with hyper-igm, type 2', 'Corneal hypesthesia with retinal abnormalities, sensorineural deafness,unusual facies, persistent ductus arteriosus, and mental retardation', 'Hypocalcemia, autosomal dominant 2', 'Agammaglobulinemia 4, autosomal recessive', 'Intellectual developmental disorder with or without peripheral neuropathy', 'Senior-Loken syndrome 8', 'Roifman-Chitayat syndrome', 'Long QT syndrome 3', 'Neurodegeneration, childhood-onset, with cerebellar atrophy', 'Atrial fibrillation, familial, 13', 'Factor VII and factor VIII, combined deficiency of', 'Infundibulopelvic dysgenesis', 'Diaphragmatic hernia 4, with cardiovascular defects', 'Glutamate monosodium sensitivity', 'Prader-Willi syndrome', 'Salla disease', 'Cerebral sclerosis similar to pelizaeus-merzbacher disease', 'Neutropenia, nonimmune chronic idiopathic, of adults', 'Amyotrophic lateral sclerosis 9', 'Congenital arthrogryposis with anterior horn cell disease', 'Neuropathy, hereditary sensory and autonomic, type V', 'Shashi-Pena syndrome', 'Fingerprint body myopathy', 'Striatonigral degeneration, infantile, mitochondrial', 'Thyroid hormonogenesis, genetic defect in, 1', 'Erythrocyte lactate transporter defect', 'Pseudouridinuria and mental defect', 'Thyrotropin-Releasing hormone deficiency', 'Lymphoblastic transformation, inhibition of', 'Lymphokine deficiency', 'Lymphoblastic transformation, intrinsic defect in', 'Galloway-Mowat syndrome 8', 'Agammaglobulinemia 10, autosomal dominant', 'Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2', 'Hyper-IgE recurrent infection syndrome 3, autosomal recessive', 'Combined oxidative phosphorylation deficiency 57', 'Contractures, congenital, torticollis, and malignant hyperthermia', 'Long QT syndrome 6', 'Ichthyosis, congenital, autosomal recessive 5', 'Ogden syndrome', 'Bryant-Li-Bhoj neurodevelopmental syndrome 2', 'Myoglobinuria, autosomal dominant', 'Undritz anomaly', 'Left ventricular noncompaction 8', 'Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies', 'Lymphatic malformation 8', 'Meckel syndrome, type 4', 'Cystinuria', 'Spastic paralysis, infantile-onset ascending', 'Choanal atresia and lymphedema', 'Immunodeficiency 77', 'Bardet-Biedl syndrome 19', 'Winchester syndrome', 'Coronary artery dissection, spontaneous', 'Cockayne syndrome A', 'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2', 'Cleft-Limb-Heart malformation syndrome', 'Mental retardation, autosomal dominant 7', 'Thyroid hormonogenesis, genetic defect in, 5', 'Hooft disease', 'Cardiomyopathy, dilated, 2H', 'Hemorrhagic destruction of the brain, subependymal calcification,and cataracts', 'Kaposi sarcoma, susceptibility to', 'Hypoparathyroidism, familial isolated', 'Corneal dystrophy, fuchs endothelial, 2', 'Temple-Baraitser syndrome', 'Developmental delay, hypotonia, and impaired language', 'Bardet-Biedl syndrome 1', 'Dysostosis multiplex, Ain-Naz type', 'Abdominal obesity-metabolic syndrome quantitative trait locus 2', 'Abdominal obesity-metabolic syndrome 1', 'Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects', 'Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness', 'Joubert syndrome 6', 'Immunodeficiency-110 with lymphoproliferation', 'Amyotrophic lateral sclerosis and/or frontotemporal dementia 1', 'Xeroderma pigmentosum, complementation group G', 'Angioedema, hereditary, 5', 'Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies', 'Angioedema, hereditary, 6', 'Brugada syndrome 2', 'Paganini-Miozzo syndrome', 'Mannosidosis, beta', 'Lymphatic malformation 11', 'Immunodeficiency 18', 'Myopathy, myofibrillar, 7', 'Immunodeficiency 11B with atopic dermatitis', 'Emery-Dreifuss muscular dystrophy 4, autosomal dominant', 'Atrial septal defect 1', 'Renal tubular acidosis, distal, with progressive nerve deafness', 'Faundes-Banka syndrome', 'Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone', 'Spondylocostal dysostosis 5', 'Combined oxidative phosphorylation deficiency 35', 'Contractural arachnodactyly, congenital', 'Heterotaxy, visceral, 8, autosomal', 'Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6', 'Cardiac arrhythmia, ankyrin-B-related', 'Glycosylphosphatidylinositol biosynthesis defect 11', 'Vissers-Bodmer syndrome', 'Congenital disorder of glycosylation, type IIa', 'Dentin dysplasia with sclerotic bones', 'Hypocalciuric hypercalcemia, familial, type II', 'Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1', 'Arrhythmogenic right ventricular dysplasia, familial, 5', 'Neuropathy, hereditary sensory and autonomic, type VI', 'Epileptic encephalopathy, early infantile, 29', 'Vertebral anomalies and variable endocrine and T-cell dysfunction', 'Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis', 'Chromosome 19q13.11 deletion syndrome, proximal', 'Aortic aneurysm, familial thoracic 12', 'Glycosylphosphatidylinositol biosynthesis defect 18', 'Meier-Gorlin syndrome 6', 'Fructose and galactose intolerance', 'Brugada syndrome 4', 'ACTH-independent macronodular adrenal hyperplasia', 'Immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis', 'Hennekam lymphangiectasia-lymphedema syndrome 3', 'Lymphatic malformation 4', 'Sick sinus syndrome 2', 'Wolf-Hirschhorn syndrome', 'Meckel syndrome, type 5', 'Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures', 'Meckel syndrome 1', 'Metachromatic leukodystrophy', 'Nephronophthisis 14', 'Aortic aneurysm, familial thoracic 7', 'UV-sensitive syndrome 2', 'Leukodystrophy, hypomyelinating, 3', 'Hypohidrosis with abnormal palmar dermal ridges', 'Myopathy, sarcoplasmic body', 'Esophageal ring, lower', 'Joubert syndrome 9', 'Carnitine deficiency, myopathic', 'Leukodystrophy, hypomyelinating, 15', 'Muscular dystrophy, limb-girdle, type 2A', 'Hyperferritinemia with or without cataract', 'Pancreas, annular', 'Drug metabolism, poor, cyp2d6-relateddrug metabolism, ultrarapid, cyp2d6-related, included', 'Glomuvenous malformations', 'Tinea imbricata, susceptibility to', 'Collagenosis, familial reactive perforating', 'White sponge nevus 1', 'Progesterone resistance', 'GONADOBLASTOMA', 'Amyloidosis, cutaneous bullous', 'Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities', 'Kabuki syndrome 1', 'Holoprosencephaly 11', 'Hyper-IgE recurrent infection syndrome 4, autosomal recessive', 'Meckel syndrome, type 2', 'Neurodevelopmental disorder with dystonia and seizures', 'Fundus albipunctatus', 'Deafness, sensorineural, Autosomal-Mitochondrial type', 'Vertebral fusion, posterior lumbosacral, with blepharoptosis', 'Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities', 'Autoimmune disease, multisystem, infantile-onset, 2', 'Long QT syndrome 1', 'Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia', 'Cardiac conduction defectsudden cardiac death, included', 'Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies', 'Maturity-onset diabetes of the young, type VII', 'Maturity-onset diabetes of the young, type 4', 'Coarctation of aorta', 'Myotonic dystrophy 1', 'Atrophoderma vermiculata', 'Heterotaxy, visceral, 6, autosomal', 'Retinitis pigmentosa 44', 'Neutropenia, lethal congenital, with eosinophilia', 'Immunodeficiency 86, mycobacteriosis', 'King-Denborough syndrome', 'Visceral neuropathy, familial, 2, autosomal recessive', 'Neuropathy, hereditary sensory and autonomic, type VII', 'Pierson syndrome', 'Heterotopia, periventricular, X-linked dominant', 'Migraine with or without aura, susceptibility to, 12', 'Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1', 'Superior transverse scapular ligament, calcification of, familial', 'Charcot-Marie-Tooth disease, axonal, type 2P', 'Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia', 'Amyotrophic lateral sclerosis, susceptibility to, 25', 'Long QT syndrome 5', 'Sjogren syndrome', 'Congenital disorder of glycosylation, type IIN', 'Alopecia areata 2', 'Lymphatic malformation 2', 'Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9', 'Emery-Dreifuss muscular dystrophy 5, autosomal dominant', 'Yuan-Harel-Lupski syndrome', 'Hemangiomas, cavernous, of face and supraumbilical midline raphe', 'Short-Rib thoracic dysplasia 6 with or without polydactyly', 'Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies', 'Lymphatic malformation 10', 'Seckel syndrome 2', 'Leukemia, acute, ?x-linked', 'Wrinkly skin syndrome', 'Multiple endocrine neoplasia 1', 'Arterial dissection with lentiginosis', 'Hypogonadotropic hypogonadism 2 with or without anosmia', 'D-2-hydroxyglutaric aciduria 2', 'Structural heart defects and renal anomalies syndrome', 'Amyotrophic lateral sclerosis, susceptibility to, 24', 'Cold-Induced sweating syndrome 2', 'Beckwith-Wiedemann syndrome', 'Myasthenic syndrome, congenital, 22', 'Brachydactyly, type A1, C', 'Long QT syndrome 12', 'Costello syndrome', 'Migraine without aura, susceptibility to, 4', 'Carey-Fineman-Ziter syndrome', 'Platelet responsiveness to adrenaline, depressed', 'Muscular dystrophy, limb-girdle, type 2W', 'Luo-Schoch-Yamamoto syndrome', 'Developmental and epileptic encephalopathy 101', 'Peroxisome biogenesis disorder 1A (Zellweger)', 'Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced', 'Aortic aneurysm, familial thoracic 9', 'Fanconi anemia, complementation group B', 'Pa polymorphism of alpha-2-globulin', 'Spondylometaphyseal dysplasia, axial', 'Intellectual developmental disorder, autosomal dominant 68', 'Neutropenia, chronic familial', 'Uruguay faciocardiomusculoskeletal syndrome', 'N-acetylaspartate deficiency', 'Complement factor H deficiency', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4', 'Hypogonadotropic hypogonadism 8 with or without anosmia', 'Potocki-Lupski syndrome', 'Osteogenesis imperfecta, type III', 'Migraine with or without aura, susceptibility to, 10', 'Migraine with or without aura, susceptibility to, 11', 'Migraine with or without aura, susceptibility to, 1', 'Migraine with or without aura, susceptibility to, 3', 'Migraine with or without aura, susceptibility to, 5', 'Migraine, familial typical, susceptibility to, 2', 'Pituitary hormone deficiency, combined, 4', 'Atrial fibrillation, familial, 9', 'Heyn-Sproul-Jackson syndrome', 'Maturity-onset diabetes of the young, type IX', 'Maturity-onset diabetes of the young 6', 'Developmental delay, language impairment, and ocular abnormalities', 'Hypoparathyroidism, familial isolated 2', 'Krabbe disease, atypical, due to saposin A deficiency', 'Cutis laxa, autosomal recessive, type IIIB', 'Immunodeficiency 8', 'Multicentric carpotarsal osteolysis syndrome', 'Cardiomyopathy, dilated, 1O', 'AMME complex', 'Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies', 'Methemoglobinemia and ambiguous genitalia', 'Dystonia, juvenile-onset', 'Marfanoid habitus with situs inversus', 'Okur-Chung neurodevelopmental syndrome', 'Cardiomyopathy, familial restrictive, 3', 'Hypouricemia, hypercalcinuria, and decreased bone density', 'Bronchiectasis with or without elevated sweat chloride 1', 'Bronchiectasis with or without elevated sweat chloride 2', 'Developmental and epileptic encephalopathy 31B, autosomal recessive', 'Neurodevelopmental disorder with hyperkinetic movements and dyskinesia', 'Premature aging syndrome, Penttinen type', 'Sinoatrial node dysfunction and deafness', 'Noonan syndrome-like disorder with loose anagen hair 2', 'Septooptic dysplasia', 'Cardiomyopathy, familial hypertrophic, 28', 'Menkes disease', 'Pili torti, early-onset', 'Long QT syndrome 9', 'Cardiomyopathy, dilated, 1G', \"O'donnell-Luria-Rodan syndrome\", 'Immunodeficiency, X-linked, with deficiency of 115,000 dalton surfaceglycoprotein', 'Buschke-Ollendorff syndrome', 'Phosphoserine aminotransferase deficiency', 'Erythermalgia, primary', 'Atrial fibrillation, familial, 10', 'Immunodeficiency 95', 'Mucopolysaccharidosis, type IIID', 'Faciocardiomelic dysplasia, lethal', 'Gastroesophageal reflux', 'Spondyloepimetaphyseal dysplasia, sponastrime type', 'Myopathy, vacuolar, with CASQ1 aggregates', 'Takayasu arteritis', 'Short QT syndrome 7', 'Cardiomyopathy, dilated, 1K', 'Charcot-Marie-Tooth disease, dominant intermediate B', 'Adams-Oliver syndrome 1', 'Macular edema, cystoid', 'Hyperphosphatasia with mental retardation syndrome 2', 'Pancreatic cancer', 'Microcephaly 26, primary, autosomal dominant', 'Agammaglobulinemia 7, autosomal recessive', 'Heterotaxy, visceral, 11, autosomal, with male infertility', 'MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4', 'Summitt syndrome', 'Arthrogryposis, distal, type 1C', 'Congenital myopathy 22B, severe fetal', 'Diabetes mellitus, transient neonatal 2', 'Primary lateral sclerosis, juvenile', 'Myopathy, granulovacuolar lobular, with electrical myotonia', 'Cutis laxa, autosomal recessive, type IIIA', 'Cardiomyopathy, dilated, 1X', 'Myopathy, distal, infantile-onset', 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant', 'Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2', 'Braddock-Carey syndrome 1', 'Carbimazole sensitivity', 'Immunodeficiency due to defect in mapbp-interacting protein', 'Cutaneous mastocytosis, conductive hearing loss, and microtia', 'Myasthenic syndrome, congenital, 17', 'Arthrogryposis, distal, type 7', 'Long QT syndrome 2', 'Granulomatous disease with defect in neutrophil chemotaxis', 'Congenital disorder of glycosylation, type IIq', 'Intellectual developmental disorder, autosomal recessive 73', 'Ehlers-Danlos syndrome, spondylodysplastic type, 1', 'Arthrogryposis multiplex congenita 3, myogenic type', 'Heart block, congenital', 'Dystrophia myotonica 2', 'Papilloma of choroid plexus', 'Leukodystrophy, hypomyelinating, 14', 'Cardiomyopathy, dilated, 1DD', 'Glucocorticoid deficiency 3', 'Sudden infant death with dysgenesis of the testes syndrome', 'Hypertrophic osteoarthropathy, primary, autosomal dominant', 'Verheij syndrome', 'Thymic-Renal-Anal-Lung dysplasia', 'Vacuolar neuromyopathy', 'Cardiomyopathy, dilated, 1M', 'Moyamoya disease 5', 'Brugada syndrome 9', 'Left ventricular noncompaction 10', 'Bardet-Biedl syndrome 20', 'Dent disease 1', 'Cole-Carpenter syndrome 2', 'Meier-Gorlin syndrome 8', 'Cataract 22, multiple types', 'Epidermolysis bullosa pruriginosa', 'Familial dysalbuminemic hyperthyroxinemia', 'Long QT syndrome 8', 'Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy', 'Angioedema, hereditary, 4', 'Turnpenny-Fry syndrome', 'Jervell and Lange-Nielsen syndrome 2', 'Cardiomyopathy, familial hypertrophic 1', 'Ribbing disease', 'Anus, imperforate', 'Wolff-Parkinson-White syndrome', 'Neurodevelopmental disorder with poor growth and behavioral abnormalities', 'Fructosuria, essential', 'Congenital myopathy 21 with early respiratory failure', 'Growth retardation, developmental delay, coarse facies, and earlydeath', 'Epidermodysplasia verruciformis, susceptibility to, 1', 'Congenital myopathy 5 with cardiomyopathy', 'Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormalpalmar creases', 'Fatty liver disease, nonalcoholic, susceptibility to, 2', 'Fatty liver disease, nonalcoholic, susceptibility to, 1', 'Cenani-Lenz syndactyly syndrome', 'Hyperalphalipoproteinemia 2', 'C5 deficiency', 'Immunodeficiency 58', 'IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1', 'Nevoid hypermelanosis, linear and whorled', 'Leber congenital amaurosis 13', 'Osteoglophonic dysplasia', 'Cardiomyopathy, dilated, 1U', 'Camptodactyly, tall stature, and hearing loss syndrome', 'Cardiomyopathy, dilated, 1nn', 'Tetra-Amelia with ectodermal dysplasia and lacrimal duct abnormalities', 'Inflammatory bowel disease 28, early onset, autosomal recessive', 'Blau syndrome', 'Ataxia with isolated vitamin E deficiency', 'CHOPS syndrome', 'Intellectual developmental disorder, autosomal recessive 5', 'Carboxypeptidase N deficiency', 'Hadziselimovic syndrome', 'Mental retardation, autosomal dominant 50', 'Mitochondrial myopathy with A defect in mitochondrial-protein transport', 'Thoracolaryngopelvic dysplasia', 'Rothmund-thomson syndrome, type 1', 'Bardet-Biedl syndrome 2', 'Hypocalciuric hypercalcemia, familial, type I', 'Agammaglobulinemia 2, autosomal recessive', 'THREONINEMIA', 'Immunodeficiency 24', 'Ventricular tachycardia, catecholaminergic polymorphic, 3', 'Holoprosencephaly 1', 'Keutel syndrome', 'Myopathy, distal, with anterior tibial onset', 'Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency', 'Moyamoya disease 1', 'N syndrome', 'Progressive familial heart block, type II', 'Congenital heart defects, multiple types, 3', 'Triglyceride storage disease, type II', 'Ventricular tachycardia, catecholaminergic polymorphic, 4', 'Atrial fibrillation, familial, 1', 'Hermansky-Pudlak syndrome 1', 'Myosclerosis, autosomal recessive', 'Leukodystrophy, hypomyelinating, 12', 'Long QT syndrome 11', 'Lissencephaly 4', 'KINSSHIP syndrome', 'B-CELL MALIGNANCY, LOW-GRADE', 'Myelocytic leukemia-like syndrome, familial, chronic', 'Immunoskeletal dysplasia with neurodevelopmental abnormalities', 'Lymphatic malformation 1', 'Cardiomyopathy, dilated, 1EE', 'Cutis laxa, autosomal recessive, type IA', 'Timothy syndrome', 'Tremor of intention, ataxia, and lipofuscinosis', 'Neurodevelopmental disorder with spastic diplegia and visual defects', 'Temporal arteritis', 'Cardiomyopathy, dilated, 2B', 'PENTOSURIA', 'Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus', 'Osteochondrodysplasia', 'Neuropathy, hereditary sensory and autonomic, type II', 'Card11 immunodeficiency', 'Miller-Dieker lissencephaly syndrome', 'Mosaic variegated aneuploidy syndrome 4', 'Jervell and Lange-Nielsen syndrome 1', 'Neurodevelopmental disorder with central and peripheral motor dysfunction', 'Cardiospondylocarpofacial syndrome', 'Mental retardation with language impairment and with or without autistic features', 'RETINOBLASTOMA', 'Syncope, familial vasovagal', 'Osteogenesis imperfecta, type X', 'Ulna metaphyseal dysplasia syndrome', 'Megacystis-microcolon-intestinal hypoperistalsis syndrome 4', 'Collagenoma, familial cutaneous', 'Mannose 6-phosphate receptor recognition defect, Lebanese type', 'Amyotrophic lateral sclerosis 19', 'Peho syndrome', 'Hypertrophic neuropathy of dejerine-sottas', 'Cardiomyopathy, dilated, 1J', 'Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities', 'Polysyndactyly with cardiac malformation', 'Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency', 'Achondrogenesis, type IA', 'Cardiomyopathy, dilated, 1GG', 'Arrhythmogenic right ventricular dysplasia, familial, 8', 'Muscular dystrophy, limb-girdle, type 2F', 'Spinal muscular atrophy, type II', 'Pycnodysostosis', 'Craniosynostosis 1', 'Striatonigral degeneration, childhood-onset', 'Amyotrophic lateral sclerosis 11', 'Bardet-Biedl syndrome 6', 'Cranial nerves, recurrent paresis of', 'Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities', 'Geleophysic dysplasia 3', 'TARP syndrome', 'Asthma, short stature, and elevated iga', 'Alpha-Thalassemia myelodysplasia syndrome', 'Left ventricular noncompaction 1', 'Carotenemia, familial', 'Congenital heart defects and skeletal malformations syndrome', 'Oculopharyngeal muscular dystrophy', 'Ventricular tachycardia, catecholaminergic polymorphic, 2', 'Cardiomyopathy, dilated, 1A', 'Megacystis-microcolon-intestinal hypoperistalsis syndrome 2', 'Maturity-onset diabetes of the young, type 1', 'Diabetes mellitus, insulin-dependent, 2', 'Maturity-onset diabetes of the young, type II', 'Koolen-De Vries syndrome', 'Orofaciodigital syndrome XVII', 'Narcolepsy 7', 'Arthrogryposis, distal, type 4', 'Trichorhinophalangeal syndrome, type III', 'Perrault syndrome 1', 'Mitochondrial DNA depletion syndrome 11', 'Schaaf-Yang syndrome', 'Phosphoglycerate mutase, muscle, deficiency of', 'Hyperaldosteronism, familial, type II', 'Peters-plus syndrome', 'Long QT syndrome 16', 'Immunodeficiency with hyper IgM, type 5', 'Cysteine peptiduria', 'Right pulmonary artery, anomalous origin of, familial', 'Raine syndrome', 'Brain malformations with or without urinary tract defects', 'Jacobsen syndrome', 'Long QT syndrome 15', 'Combined cellular and humoral immune defects with granulomas', 'Cutis laxa, autosomal dominant 2', 'Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14', 'Retinitis pigmentosa', 'Spondylometaphyseal dysplasia, Pagnamenta type', 'Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures', 'Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction', 'Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies', 'Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type', 'Amyotrophic lateral sclerosis 2, juvenile', 'Cranioectodermal dysplasia 3', 'Short QT syndrome 3', 'Epileptic encephalopathy, early infantile, 35', 'Brachydactyly, type A2, with microcephaly', 'EPILEPSY-TELANGIECTASIA', 'Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities', 'Coffin-Siris syndrome 4', 'Muscular dystrophy, limb-girdle, type 2E', 'Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline', 'Mulchandani-Bhoj-Conlin syndrome', 'Factor IX and factor XI, combined deficiency of', 'Loeys-Dietz syndrome 6', 'Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes', 'Cerebrooculofacioskeletal syndrome 4', 'Congenital disorder of glycosylation, type I/IIx', 'Growth hormone insensitivity with immune dysregulation 2, autosomal dominant', 'Sclerosteosis 2', 'Noonan syndrome 3', 'Fetal akinesia deformation sequence 3', 'Muscular dystrophy, limb-girdle, autosomal recessive 25', 'Brugada syndrome 6', 'Angioedema, hereditary, 7', 'Schinzel-Giedion midface-retraction syndrome', 'Glycogen storage disease 0, muscle', 'Retinal telangiectasia and hypogammaglobulinemia', 'Muscular dystrophy, limb-girdle, type 2D', 'Pierre Robin syndrome', 'Nail disorder, nonsyndromic congenital, 3', 'Pigmented paravenous chorioretinal atrophy', 'Breasts and/or nipples, aplasia or hypoplasia of, 1', 'Migraine with or without aura, susceptibility to, 6', 'Hypertension and brachydactyly syndrome', 'Cataract 33, multiple types', 'Immunodeficiency 37', 'Mitral valve prolapse 1', 'Meier-Gorlin syndrome 3', 'Centronuclear myopathy 5', 'Cardiomyopathy, dilated, 1V', 'Smith-Mccort dysplasia 2', 'Mass syndrome', 'Loeys-Dietz syndrome 5', 'Intellectual developmental disorder, autosomal recessive 76', 'Epidermolytic hyperkeratosis', 'Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia', 'Erythrokeratodermia variabilis et progressiva 1', 'Raynaud disease', 'Arrhythmogenic right ventricular dysplasia 12', 'Ramon syndrome', 'Internal carotid arteries, hypoplasia of', 'Cardiomyopathy, familial hypertrophic, 17', 'Leukemia, acute myeloid', 'Pancreatic cancer, susceptibility to, 1', 'Cutis laxa, autosomal recessive, type IIA', 'Epidermodysplasia verruciformis, susceptibility to, 5', 'Complement component 2 deficiency', 'Cardiomyopathy, familial hypertrophic, 11', 'Progressive familial heart block, type IA', 'Aortic aneurysm, familial thoracic 11, susceptibility to', 'Ulnar agenesis and endocardial fibroelastosis', 'Inclusion body myositis', 'Myopathy, reducing body, X-linked, childhood-onset', 'Nonaka myopathy', 'Acrofacial dysostosis, Cincinnati type', 'Cutis laxa, autosomal recessive, type IID', 'Complement component 4A deficiency', 'Mental retardation, X-linked 19', 'Myasthenia, congenital, refractory to acetylcholinesterase inhibitors', 'Epileptic encephalopathy, early infantile, 66', 'Riddle syndrome', 'HSD10 mitochondrial disease', 'Erythroderma, ichthyosiform, congenital reticular', 'Cardiomyopathy, dilated, 2A', 'Immunodeficiency, common variable, 5', 'Hernia, hiatus', 'Mitral valve prolapse, myxomatous 3', 'Mitral valve prolapse, myxomatous 2', 'Cardiomyopathy, familial hypertrophic, 26', 'Charcot-Marie-Tooth disease, type 4A', 'Dicarboxylicamino aciduria', 'Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum', 'Hyperphenylalaninemia, BH4-deficient, B', 'Juvenile myelomonocytic leukemia', 'Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome', 'Cardiomyopathy, dilated, 1BB', 'Dystonia 4, torsion, autosomal dominant', 'Bartter syndrome, type 4B, neonatal, with sensorineural deafness', 'Mckusick-Kaufman syndrome', 'Hyperlysinemia due to defect in lysine transport into mitochondria', 'Schneckenbecken dysplasia', 'Leptin receptor deficiency', 'Myopathy, proximal, and ophthalmoplegia', 'Optic atrophy--spastic paraplegia syndrome', 'Cerebral cavernous malformations 2', 'Episodic ataxia, type 3', 'Legius syndrome', 'Congenital myopathy 20', 'Currarino syndrome', 'Refsum disease', 'Dystonia, dopa-responsive, due to sepiapterin reductase deficiency', 'Hyperinsulinemic hypoglycemia, familial, 3', 'Bardet-Biedl syndrome 13', 'Skeletal dysplasia with delayed epiphyseal and carpal bone ossification', 'Aneurysm of interventricular septum', 'Amyloidosis of gingiva and conjunctiva, with mental retardation', 'GABA-transaminase deficiency', 'Microcephaly 13, primary, autosomal recessive', 'Lymphedema, cardiac septal defects, and characteristic facies', 'Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome', 'Mucopolysaccharidosis, type X', 'Cardiomyopathy, dilated, 1OO', 'Galloway-mowat syndrome 1', 'TYROSINOSIS', 'Ehlers-Danlos syndrome, spondylodysplastic type, 3', 'Spastic paraplegia 9A, autosomal dominant', 'Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1', 'Congenital disorder of glycosylation, type Iu', 'Thrombophilia due to decreased release of tissue plasminogen', 'Scheie syndrome', 'Hyperphenylalaninemia, bh4-deficient, C', 'Leukodystrophy, hypomyelinating, 16', 'Cystic angiomatosis of bone, diffuse', 'Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects', 'Leukemia, acute myelocytic, with polyposis coli and colon cancer', 'Lymphatic malformation 12', 'Oocyte maturation defect 7', 'Rigid spine muscular dystrophy 1', 'Epileptic encephalopathy, early infantile, 21', 'Muscular dystrophy, limb-girdle, type 2Q', 'Carpenter syndrome 1', 'Lipomatosis, multiple symmetric, with or without peripheral neuropathy', 'Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction', 'Tumoral calcinosis, hyperphosphatemic, familial, 1', 'Atrial septal defect 4', 'Charcot-Marie-Tooth disease, recessive intermediate C', 'Hyperphosphatasia with mental retardation', 'Fibrinolytic defect', 'Maple syrup urine disease, mild variant', 'Glioma susceptibility 3', 'Cluster headache, familial', 'Kaufman oculocerebrofacial syndrome', 'Pacman dysplasia', 'Pontocerebellar hypoplasia, type 1D', 'Agammaglobulinemia 8, autosomal dominant', 'Stuve-Wiedemann syndrome', 'Transient bullous dermolysis of the newborn', 'Hyperekplexia 1', 'Epidermolysis bullosa dystrophica, pretibial', 'Myopathy, congenital, with fast-twitch (type II) fiber atrophy', 'HYPERLEXIA', 'Multicentric osteolysis, nodulosis, and arthropathy', 'Aneurysm, intracranial berry, 3', 'Orthostatic hypotension 1, due to DBH deficiency', 'Microcephalic osteodysplastic primordial dwarfism, type I', 'Rhabdomyolysis, susceptibility to, 1', 'Spondyloepimetaphyseal dysplasia, Strudwick type', 'Cardiac septal defects with coarctation of the aorta', 'Paragangliomas 6', 'Patent ductus arteriosus 1', 'Patent ductus arteriosus 3', 'Thyroid hormone metabolism, abnormal, 3', 'SARCOSINEMIA', 'Chondrodysplasia punctata 2, X-linked dominant', 'Amyloidosis, primary localized cutaneous, 2', 'FANCONI ANEMIA, COMPLEMENTATION GROUP U', 'Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15', 'Arrhythmogenic right ventricular dysplasia, familial, 14', 'Lymphedema-Distichiasis syndrome', 'Radiculoneuropathy, fatal neonatal', 'Intellectual developmental disorder, autosomal recessive 64', 'Microcephaly 10, primary, autosomal recessive', 'Cataract 46, juvenile-onset', 'Fg syndrome 4', 'Joint contracture, osteochondromas, and B-cell lymphoma', 'Diencephalic-mesencephalic junction dysplasia syndrome 2', 'Cardiomyopathy, familial hypertrophic, 16', 'Atrial fibrillation, familial, 18', 'Capillary malformation-arteriovenous malformation 1', 'Cardiomyopathy, familial hypertrophic, 10', 'Circumvallate placenta syndrome', 'Cyclic vomiting syndrome', 'Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination', 'Say syndrome', 'Mental retardation, autosomal recessive 18', 'Microcephaly-Capillary malformation syndrome', 'Cohen syndrome', 'Brugada syndrome 5', 'Retinitis pigmentosa 7', 'Microcephaly, short stature, and polymicrogyria with or without seizures', 'Amyotrophic lateral sclerosis 16, juvenile', 'Spinocerebellar ataxia, autosomal recessive 1', 'Autoimmune interstitial lung, joint, and kidney disease', 'Spastic paraplegia 30, autosomal recessive', 'Hermansky-Pudlak syndrome 11', 'Restrictive dermopathy 2', 'Gamma-A-Globulin, defect in assembly of', 'Cataract 16, multiple types', 'Mismatch repair cancer syndrome 2', 'Neu-Laxova syndrome 2', 'Ventricular fibrillation, paroxysmal familial, 2', 'Arthrogryposis, distal, with impaired proprioception and touch', 'Primrose syndrome', 'Hyperparathyroidism 1', 'Deafness, sensorineural, with peripheral neuropathy and arterial disease', 'Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3', 'Complement component 3 deficiency, autosomal recessive', 'Chromosome 17q11.2 duplication syndrome, 1.4-Mb', 'Marsili syndrome', 'Methylmalonic aciduria, transient, due to transcobalamin receptor defect', 'Ehlers-Danlos syndrome, dermatosparaxis type', 'Polymicrogyria with or without vascular-type EDS', 'Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1', 'Schizophrenia 4', 'Atrial standstill 1', 'Retinitis pigmentosa 6', 'Osteodysplasty, precocious, of danks, mayne, and kozlowski', 'Amelia and terminal transverse hemimelia', 'Diaphanospondylodysostosis', 'Nemaline myopathy 1', 'Feingold syndrome 1', 'Lowry-Wood syndrome', 'Epilepsy, familial temporal lobe, 5', 'Zimmermann-Laband syndrome 1', 'Paramyotonia congenita', 'Lymphedema-Hypoparathyroidism syndrome', 'Rigidity and multifocal seizure syndrome, lethal neonatal', 'Glucocorticoid deficiency 2', 'Steinfeld syndrome', 'Myopathy, myofibrillar, 4', 'Fetal iodine deficiency disorder', 'Intellectual developmental disorder with cardiac arrhythmia', 'Cardiomyopathy, familial hypertrophic, 14', 'Neutropenia, severe congenital 3, autosomal recessive', 'Melkersson-Rosenthal syndrome', 'Pituitary hormone deficiency, combined or isolated, 7', 'Lethal congenital contracture syndrome 8', 'Megacystis-microcolon-intestinal hypoperistalsis syndrome 3', 'Pelvic organ prolapse', 'Premature chromatid separation trait', 'Nathalie syndrome', 'INTUSSUSCEPTION', 'Epileptic encephalopathy, early infantile, 77', 'VISS syndrome', 'Lethal congenital contracture syndrome 2', 'Shprintzen-Goldberg craniosynostosis syndrome', 'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12', 'Immunodeficiency 88', 'Myopathy, centronuclear, 4', 'Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy', 'Cardiomyopathy, dilated, 2E', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14', 'Cardiofaciocutaneous syndrome 4', 'Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy', 'Mental retardation, autosomal dominant 57', 'Meester-Loeys syndrome', 'Chondrodysplasia calcificans metaphysealis', 'Insulinomatosis and diabetes mellitus', 'Brachyolmia type 1, Toledo type', 'Ebstein anomaly', 'Pancreatic cancer, susceptibility to, 5', 'Amyotrophic lateral sclerosis 8', 'Occipital horn syndrome', 'Shprintzen omphalocele syndrome', 'Renal failure, progressive, with hypertension', 'Pendred syndrome', 'Microcephaly 17, primary, autosomal recessive', 'Myopathy, epilepsy, and progressive cerebral atrophy', 'Ciliary dyskinesia, primary, 25', 'Myasthenic syndrome, congenital, 4A, slow-channel', 'Multiple congenital anomalies-hypotonia-seizures syndrome 3', 'Multiple pterygium syndrome, Lethal type', 'Inflammatory bowel disease 29', 'Lenz-Majewski hyperostotic dwarfism', 'Thyroid hormone resistance, generalized, autosomal dominant', 'Zttk syndrome', 'HYDROXYPROLINEMIA', 'Aminoacylase 1 deficiency', 'Atrial fibrillation, familial, 14', 'Myofibrillar myopathy 11', 'Legg-Calve-Perthes disease', 'Patent ductus arteriosus and bicuspid aortic valve with hand anomalies', 'Muscular dystrophy, limb-girdle, autosomal recessive 26', 'Slowed nerve conduction velocity, autosomal dominant', 'Intellectual developmental disorder with poor growth and with or without seizures or ataxia', 'Neurodevelopmental, jaw, eye, and digital syndrome', 'Enhanced S-cone syndrome', 'Lissencephaly 2', 'Cardiomyopathy, dilated, 1HH', 'Hemosiderosis, pulmonary, with deficiency of gamma-A globulin', 'Tyrosine transaminase deficiency', 'Oliver-Mcfarlane syndrome', 'Combined oxidative phosphorylation deficiency 50', 'Factor VIII and factor IX, combined deficiency of', 'Arrhythmogenic right ventricular dysplasia, familial, 3', 'Baraitser-Winter syndrome 1', 'Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features', 'Brain small vessel disease 1 with or without ocular anomalies', 'Vacterl association with hydrocephalus', 'Muscular dystrophy, limb-girdle, type 1E', 'Cutis laxa, autosomal dominant 1', 'Myopathy, congenital with structured cores and Z-line abnormalities', 'Ichthyosis vulgaris', 'LACTIC ACIDURIA DUE TO D-LACTIC ACID', 'Internal carotid artery, spontaneous dissection of', 'Prolactin deficiency with obesity and enlarged testes', 'Cardiomyopathy, dilated, 1Z', 'Neuropathy, hereditary sensory, X-linked', 'Immunodeficiency 61', 'Snijders Blok-Campeau syndrome', 'Epileptic encephalopathy, early infantile, 30', 'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1', 'Succinic semialdehyde dehydrogenase deficiency', 'Lesch-Nyhan phenotype with normal hgprt', 'Cardiomyopathy, familial hypertrophic, 2', 'Hyperphosphatasia with impaired intellectual development syndrome 4', 'Spondylocostal dysostosis 4, autosomal recessive', 'Long QT syndrome 14', 'Cardiomyopathy, dilated, 1KK', 'Muscular dystrophy, limb-girdle, autosomal recessive 10', 'Immunodeficiency-Centromeric instability-facial anomalies syndrome2', 'Telangiectasia, hereditary benign', 'Pontocerebellar hypoplasia, type 4', 'Immunodeficiency, common variable, 4', 'Angiokeratoma corporis diffusum with arteriovenous fistulas', 'Hypokalemic periodic paralysis, type 2', 'Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome', 'Insulin-Like growth factor I, resistance to', 'Cerebrooculofacioskeletal syndrome 3', 'Cardiomyopathy, dilated, 2D', 'Myopathy due to myoadenylate deaminase deficiency', 'Glycosylphosphatidylinositol biosynthesis defect 17', 'Lymphatic malformation 3', 'Bardet-Biedl syndrome 3', 'GLUCOGLYCINURIA', 'Multiple pterygium syndrome, X-linked', '2-Methylbutyryl-Coa dehydrogenase deficiency', 'Muscular dystrophy, congenital, 1B', 'Developmental delay, impaired speech, and behavioral abnormalities', 'Cornelia de Lange syndrome 1', 'Noonan syndrome 5', 'Neurodevelopmental disorder with microcephaly and spastic paraplegia', 'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8', 'Parkinson disease 22, autosomal dominant', 'Immunodeficiency 83, susceptibility to viral infections', 'Sneddon syndrome', 'T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant', 'Heart, malformation of', 'Urofacial syndrome', 'Martsolf syndrome 2', 'Dermatitis, atopic', 'Ventricular extrasystoles with syncope, perodactyly, and Robin sequence', 'Zinc deficiency, transient neonatal', 'Immune deficiency, familial variable', 'Camptodactyly 1', '3-M syndrome 1', 'Frontotemporal dementia and/or amyotrophic lateral sclerosis 5', 'Peho-Like syndrome', 'Naegeli-Franceschetti-Jadassohn syndrome', 'Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities', 'Immunodeficiency 38 with basal ganglia calcification', 'Phosphoserine phosphatase deficiency', 'Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12', 'Microcephaly, primary autosomal recessive, 1', 'Myopathy, distal, with rimmed vacuoles', 'Pulmonary hypertension, primary, autosomal recessive', 'Spondylocostal dysostosis 3, autosomal recessive', 'Lysine malabsorption syndrome', 'Arthrogryposis, distal, type 2A', 'Cardiomyopathy, familial hypertrophic, 13', 'Immunodeficiency 51', 'Muscular dystrophy, congenital, due to integrin alpha-7 deficiency', 'Li-Fraumeni syndrome', 'Hypomagnesemia 4, renal', 'Bardet-Biedl syndrome 9', 'Cole disease', 'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15', 'Cone-rod dystrophy 12', 'Waardenburg syndrome, type 4B', 'Oculorenocerebellar syndrome', 'Microtia, hearing impairment, and cleft palate', 'Carpal tunnel syndrome', 'Hennekam lymphangiectasia-lymphedema syndrome', 'Myopathy, tubular aggregate, 2', 'Atrial septal defect 6', 'Van Maldergem syndrome 1', 'Bethlem myopathy 2', 'Atrial septal defect with atrioventricular conduction defects', 'Ichthyosis, mental retardation, dwarfism, and renal impairment', 'Hernia, double inguinal', 'Myopathy, distal, 6, adult onset', 'Fountain syndrome', 'Sedoheptulokinase deficiency', 'Atrial fibrillation, familial, 4', 'Enchondromatosis, multiple', 'Stiff skin syndrome', 'Aortic arch anomaly with peculiar facies and mental retardation', 'Glomerulosclerosis, focal segmental, 5', 'Sinus node disease and myopia', 'Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi', 'Neurodegeneration, infantile-onset, biotin-responsive', 'D-2-Hydroxyglutaric aciduria 1', 'Cataract 11, multiple types', 'Emanuel syndrome', 'Patent ductus arteriosus 2', 'Muscular dystrophy, limb-girdle, type 2Y', 'Charcot-Marie-Tooth disease, dominant intermediate A', 'Achalasia, familial esophageal', 'Frank-ter Haar syndrome', 'Nemaline myopathy 11, autosomal recessive', 'Facioscapulohumeral muscular dystrophy 1', 'Microphthalmia, syndromic 12', 'Heterotaxy, visceral, 10, autosomal, with male infertility', 'Exostoses, multiple, type I', 'Miyoshi muscular dystrophy 1', 'Diastrophic dysplasia', 'Chromosome 15q26-qter deletion syndrome', 'Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies', 'Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2', 'Hypomagnesemia 1, intestinal', 'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9', 'Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly', 'Blood group, cromer system', 'Behcet syndrome', 'Osseous heteroplasia, progressive', 'Xia-Gibbs syndrome', 'Multiple congenital anomalies-hypotonia-seizures syndrome 2', 'Neuronal intranuclear inclusion disease', 'Cardiomyopathy, familial hypertrophic, 15', 'Xeroderma pigmentosum, complementation group F', 'Obesity-Hypoventilation syndrome', 'Recombinant chromosome 8 syndrome', 'Al-Gazali-Bakalinova syndrome', 'Hyperuricemic nephropathy, familial juvenile, 3', 'Glomerulocystic kidney disease with hyperuricemia and isosthenuria', 'Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity', 'Pseudohermaphroditism, male, with gynecomastia', 'Hydrops fetalis, nonimmune, with gracile bones and dysmorphic features', 'Leiomyoma of vulva and esophagus', 'Ververi-Brady syndrome', 'Gillespie syndrome', 'Arrhythmogenic right ventricular dysplasia, familial, 1', 'Radial aplasia, X-linked', 'Anorectal anomalies', 'Necrotizing encephalomyelopathy, subacute, of leigh, adult', 'Meier-Gorlin syndrome 1', 'Microcephaly with cervical spine fusion anomalies', 'Sacral defect with anterior meningocele', 'Hypoglossia with situs inversus', 'UV-sensitive syndrome 3', 'Creatine phosphokinase, elevated serum', 'Hypomagnesemia 2, renal', 'Polyposis of gastric fundus without polyposis coli', 'Congenital myopathy 2C, severe infantile, autosomal dominant', 'Paragangliomas 4', 'Satoyoshi syndrome', 'Immunodeficiency 101 (varicella zoster virus-specific)', 'Oculopharyngodistal myopathy 4', 'Mitochondrial complex IV deficiency, nuclear type 14', 'Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial', 'Schimmelpenning-Feuerstein-Mims syndrome', 'Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis', 'Muscular dystrophy, congenital, with or without seizures', 'Retinal arteries, tortuosity of', 'Pseudohyperkalemia, familial, 2, due to red cell leak', 'Immunodeficiency 13', 'Aortic arch interruption, facial palsy, and retinal coloboma', 'Spondyloepiphyseal dysplasia tarda, autosomal recessive', 'Miyoshi muscular dystrophy 3', 'Frontoocular syndrome', 'Deafness, neural, with atypical atopic dermatitis', 'Feingold syndrome 2', 'Spinal muscular atrophy with congenital bone fractures 2', 'Fibromuscular dysplasia, multifocal', 'Mismatch repair cancer syndrome 3', 'Blepharochalasis, superior', 'Brachyolmia type 2', 'Atrial fibrillation, familial, 7', 'Neurodevelopmental disorder with microcephaly, ataxia, and seizures', 'Saccharopinuria', 'Microcephaly 11, primary, autosomal recessive', 'Mismatch repair cancer syndrome 4', 'Congenital disorder of glycosylation, type IIc', 'Bundle branch block, familial isolated complete right', 'Cardiomyopathy, dilated, 1FF', 'Short syndrome', 'Dyskinesia, limb and orofacial, infantile-onset', 'Osteogenesis imperfecta, type IX', 'Atrial tachyarrhythmia with short pr interval', 'Pulmonary atresia with ventricular septal defect', 'Beta-aminoisobutyric acid, urinary excretion of', 'CYSTATHIONINURIA', 'Bardet-Biedl syndrome 14', 'Cerebral cavernous malformations 3', 'Choroid plexus calcification and mental retardation', 'Intellectual developmental disorder, autosomal recessive 68', 'Muscular dystrophy, limb-girdle, type 1H', 'Myopathy, myosin storage, autosomal recessive', 'Bardet-Biedl syndrome 11', 'Epidermodysplasia verruciformis, susceptibility to, 4', 'Coracoclavicular joint, anomalous', 'Ige responsiveness, atopic', 'Arrhythmogenic right ventricular dysplasia, familial, 4', 'Ventricular septal defect 3', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5', 'Aicardi-Goutieres syndrome 2', 'Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly', 'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7', 'Brain small vessel disease 2', 'Spondylocostal dysostosis with anal atresia and urogenital anomalies', 'Muscular dystrophy, limb-girdle, type 2Z', 'Charcot-Marie-Tooth disease, axonal, type 2II', 'Leukodystrophy, hypomyelinating, 26, with chondrodysplasia', 'Diaphragmatic defects, limb deficiencies, and ossification defects of skull', 'Prune belly syndrome', 'Phosphohydroxylysinuria', 'Ullrich congenital muscular dystrophy 2', 'Yoon-Bellen neurodevelopmental syndrome', 'Charcot-Marie-Tooth disease, dominant intermediate E', 'Immunodeficiency 70', 'Oculopharyngodistal myopathy 2', 'Kanzaki disease', 'Ataxia-Oculomotor apraxia 3', 'Bulbar palsy, progressive, of childhood', 'Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia', 'Proteus syndrome, somatic', 'Pierpont syndrome', 'Atrial septal defect 8', 'Microcephaly, short stature, and impaired glucose metabolism 2', 'Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type', 'Vesicoureteral reflux 1', 'Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease', 'Joubert syndrome 21', 'Spinal muscular atrophy with congenital bone fractures 1', 'Pulmonary atresia with intact ventricular septum', 'Morquio syndrome C', 'Dystonia 32', 'Dandy-Walker malformation with postaxial polydactyly', 'Cerebellar ataxia, benign, with thermoanalgesia', 'Nuchal bleb, familial', 'Nijmegen breakage syndrome-like disorder', 'Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia', 'Nivelon-Nivelon-Mabille syndrome', 'Neurofibromatosis-Noonan syndrome', 'Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis', 'Parkinsonism-Dystonia, infantile, 1', 'Spastic paraplegia 70, autosomal recessive', 'Frontotemporal dementia and/or amyotrophic lateral sclerosis 2', 'Kilquist syndrome', 'Mandibuloacral dysplasia with type B lipodystrophy', 'Nabais Sa-de vries syndrome, type 2', 'Atrial fibrillation, familial, 11', 'Pulmonary venoocclusive disease 1', 'Total anomalous pulmonary venous return 1', 'Leukodystrophy, adult-onset, autosomal dominant', 'Chromosome 13q33-q34 deletion syndrome', 'Seckel syndrome 9', 'Leber congenital amaurosis 4', 'Hyperphenylalaninemia, BH4-deficient, D', 'Webb-Dattani syndrome', 'Combined oxidative phosphorylation deficiency 49', 'Pituitary dwarfism with large sella turcica', 'Chromosome 20q11-q12 deletion syndrome', 'Myopathy, distal, 4', 'Neurodevelopmental disorder, X-linked, with craniofacial abnormalities', 'Charge syndrome', 'Joubert syndrome 37', 'Mosaic variegated aneuploidy syndrome 2', 'Cervical vertebral bridge', 'Finger locking, recurrent, with intrauterine growth retardation andproportionate short stature', 'Metatropic dysplasia', 'Alzheimer disease', 'Macular dystrophy, corneal, 1', 'Ataxia, intention tremor, and hypotonia syndrome, childhood-onset', 'Charcot-Marie-Tooth disease, type 2J', 'Hyperkalemic periodic paralysis', 'Arteries, anomalies of', 'Hemangiopericytoma, malignant', 'Neurodegeneration with brain iron accumulation 7', 'Craniometaphyseal dysplasia, autosomal dominant', 'Meacham syndrome', 'Galloway-Mowat syndrome 7', 'Hypothyroidism, congenital, nongoitrous, 4', 'Thumb deformity', 'Exostoses, multiple, type II', 'Transposition of the great arteries, dextro-looped 1', 'Smith-Magenis syndrome', 'Intracranial hypertension, idiopathic', 'Chromosome 19q13.11 deletion syndrome, distal', 'Facial palsy, congenital, with ptosis and velopharyngeal dysfunction', 'Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome', 'Hypertrophic neuropathy and cataract', 'Cataract 17, multiple types', 'Epidermolytic hyperkeratosis 2', 'Immunodeficiency 27B', 'Kabuki syndrome 2', 'Epidermolysis bullosa simplex, Ogna type', 'Spondylometaphyseal dysplasia, type A4', 'Bardet-Biedl syndrome 22', 'Spondylosis, cervical', 'Sorbitol dehydrogenase deficiency with peripheral neuropathy', 'GLUT1 deficiency syndrome 1, infantile onset, severe', 'Hyperprolinemia, type II', 'Charcot-Marie-Tooth disease, axonal, type 2B1', 'Craniolenticulosutural dysplasia', 'Leukodystrophy, hypomyelinating, 20', 'Immunodeficiency, common variable, 3', 'Cardiomyopathy, familial hypertrophic, 3', 'Immunodeficiency 20', 'Mental retardation, autosomal recessive 30', 'Nemaline myopathy 6', 'Inflammatory bowel disease 21', 'Inflammatory bowel disease 3', 'Gombo syndrome', 'Carcinoid tumors, intestinal', 'Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1', 'Trichothiodystrophy 1, photosensitive', 'FG syndrome 3', 'Cayler cardiofacial syndrome', 'Hyperuricemia, infantile, with abnormal behavior and normal hypoxanthineguanine phosphoribosyltransferase', 'Atrioventricular septal defect, susceptibility to, 2', 'Intellectual developmental disorder with short stature and variable skeletal anomalies', 'Myoglobinuria, recurrent', 'Meckel diverticulum', 'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3', 'Nephronophthisis-Like nephropathy 1', 'Cleidocranial dysplasia, recessive form', 'Spondyloepiphyseal dysplasia, Nishimura type', 'Heart-hand syndrome, Spanish type', 'Trichothiodystrophy 6, nonphotosensitive', 'Lethal congenital contracture syndrome 10', 'Diabetes mellitus, insulin-dependent-1', 'Pontine tegmental cap dysplasia', 'Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3', 'Porencephaly, cerebellar hypoplasia, and internal malformations', 'Chromosome 16q22 deletion syndrome', 'Mitchell syndrome', 'Mental retardation, autosomal dominant 35', 'Buerger disease', 'Neuromyotonia and axonal neuropathy, autosomal recessive', 'Noonan syndrome 14', 'Aminopterin syndrome sine aminopterin', 'Myoclonus, intractable, neonatal', 'Nemaline myopathy 5B, autosomal recessive, childhood-onset', 'Ichthyosis, congenital, autosomal recessive 3', 'Dyslexia, susceptibility to, 8', 'Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities', 'Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3', '3-M syndrome 2', 'Joubert syndrome 18', 'Cardiomyopathy, familial restrictive, 1', 'Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities', 'SPONDYLOLISTHESIS', 'Omphalocele due to duplication of 1p31.3', 'OMPHALOCELE', 'Aland island eye disease', 'Parathyroid carcinoma', 'Muscular dystrophy, limb-girdle, autosomal dominant 2', 'Microcephaly 27, primary, autosomal dominant', 'Blount disease, adolescent', 'Epileptic encephalopathy, early infantile, 55', 'Charcot-Marie-Tooth disease, dominant intermediate D', 'Glycogen storage disease XV', 'Tetralogy of Fallot and glaucoma', 'Neurodevelopmental disorder with alopecia and brain abnormalities', 'Lacrimal duct defect', 'Sprengel deformity', 'Lung agenesis, congenital heart defects, and thumb anomalies syndrome', 'Cataract, juvenile, with microcornea and glucosuria', 'Hunter-Macdonald syndrome', 'Polyposis, intestinal, with multiple exostoses', 'Rippling muscle disease', 'Hypoglycemia of infancy, leucine-sensitive', 'Rothmund-Thomson syndrome', 'Spinal intradural arachnoid cysts', 'Phosphoglycerate kinase 1 deficiency', 'Myopathy, distal 3', 'Boucher-Neuhauser syndrome', 'Short-Rib thoracic dysplasia 11 with or without polydactyly', 'Desbuquois dysplasia 1', 'Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum', 'Hypercalciuria, absorptive, susceptibility to', 'Developmental and epileptic encephalopathy 58', 'Schwartz-jampel syndrome, type 1', 'Atrioventricular dissociation', 'Cerebrooculofacioskeletal syndrome 2', 'Myopathy, myofibrillar, 6', 'Myopathy, distal, 5', 'Congenital disorder of glycosylation, type IIz', 'Proteinuria, chronic benign', 'Focal segmental glomerulosclerosis 2', 'Gillessen-Kaesbach-Nishimura syndrome', 'Spondyloepimetaphyseal dysplasia with joint laxity, type 3', 'Brain abnormalities, neurodegeneration, and dysosteosclerosis', 'Intellectual developmental disorder with hypotonia and behavioral abnormalities', 'Glycosylphosphatidylinositol biosynthesis defect 15', 'Retinal cone dystrophy 3A', 'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14', 'Kleeblattschaedel syndrome', 'Retinal dystrophy, iris coloboma, and comedogenic acne syndrome', 'Indolylacroyl glycinuria with mental retardation', 'Short stature with nonspecific skeletal abnormalities', 'Oculopharyngodistal myopathy 1', 'Annular erythema', 'Urticaria, aquagenic', 'Benign chronic pemphigus', 'Urticaria, familial localized heat', 'Erythema palmare hereditarium', 'Myasthenic syndrome, congenital, 1A, slow-channel', 'Arrhythmogenic right ventricular dysplasia, familial, 13', 'Epileptic encephalopathy, early infantile, 78', 'IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2', 'Sick sinus syndrome 1', 'Familial cold autoinflammatory syndrome 3', 'Immunodeficiency 35', 'Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy', 'METACHONDROMATOSIS', 'Facial dysmorphism, immunodeficiency, livedo, and short stature', 'Thoracomelic dysplasia', 'Chromosome Xq13 duplication syndrome', 'Cardiomyopathy, dilated, 1Y', 'Ciliary dyskinesia, primary, 43', 'Complement factor B deficiency', 'Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia', 'Paragangliomas 5', 'Spondyloepimetaphyseal dysplasia, Isidor-Toutain type', 'Congenital cataracts, hearing loss, and neurodegeneration', 'Myasthenic syndrome, congenital, 4B, fast-channel', 'Episodic ataxia, type 4', 'Spinal dysplasia, Anhalt type', 'Hydrocephalus, normal pressure, 1', 'Ichthyosis, split hairs, and amino aciduria', 'Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism', 'Scoliosis, idiopathic, susceptibility to, 1', 'Isotretinoin embryopathy-like syndrome', 'Treacher-Collins syndrome 4', 'Tumor predisposition syndrome 2', 'Dystonia 2, torsion, autosomal recessive', 'Huntington disease-like 2', 'Intellectual developmental disorder, autosomal recessive 24', 'Short stature, idiopathic familial', 'Brugada syndrome 7', 'Gurrieri syndrome', 'Spinocerebellar ataxia, autosomal recessive 20', 'Amelia, autosomal recessive', 'Asparagine synthetase deficiency', 'Radial-Renal syndrome', 'Mononeuropathy of the median nerve, mild', 'Intellectual developmental disorder with macrocephaly, seizures, and speech delay', 'URIDINE-CYTIDINEURIA', 'Onychotrichodysplasia and neutropenia', 'Ehlers-Danlos syndrome, periodontal type, 2', 'Cardiomyopathy, familial hypertrophic, 12', 'Immunodeficiency 65, susceptibility to viral infections', 'Bardet-Biedl syndrome 8', 'Anus, imperforate', 'Auriculocondylar syndrome 2', 'Cerebral amyloid angiopathy, itm2b-related, 1', 'Kaya-Barakat-Masson syndrome', 'RAPADILINO syndrome', 'Myasthenic syndrome, congenital, 25, presynaptic', 'Polyhydramnios, megalencephaly, and symptomatic epilepsy', 'Neuroblastoma, susceptibility to, 2', 'Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold', 'Carney complex variant', 'Hyperoxaluria, primary, type III', 'Pyloric atresia', 'Developmental and epileptic encephalopathy 107', 'Anauxetic dysplasia 3', 'Muscular dystrophy, limb-girdle, type 2C', 'Carey-Fineman-Ziter syndrome 2', 'Spinocerebellar ataxia 48', 'Dworschak-Punetha neurodevelopmental syndrome', 'Congenital myopathy 13', 'Ceroid lipofuscinosis, neuronal, 9', 'Respiratory distress syndrome in premature infants', 'Dwarfism with tall vertebrae', 'Osteogenesis imperfecta congenita, microcephaly, and cataracts', 'Spondylocostal dysostosis 6, autosomal recessive', 'Triphalangeal thumbs and dislocation of patella', 'Epileptic encephalopathy, early infantile, 39', 'Opsismodysplasia', 'Carney complex, type 1', 'Vesicoureteral reflux 3', 'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5', 'Cardiomyopathy, dilated, 1R', 'Tumoral calcinosis, hyperphosphatemic, familial, 2', 'Nephronophthisis 15', 'Congenital myopathy 10B, mild variant', 'Charcot-Marie-Tooth disease, axonal, type 2T', 'Au-Kline syndrome', 'Fetal encasement syndrome', 'Chondrodysplasia punctata, autosomal dominantchondrodysplasia punctata due to vitamin K deficiency, included', 'Holoprosencephaly with fetal akinesia/hypokinesia sequence', 'Hemangiomas of small intestine', 'Epileptic encephalopathy, early infantile, 76', 'Cystinosis, adult nonnephropathic', 'Epileptic encephalopathy, infantile or early childhood, 2', 'CARNOSINEMIA', 'Microcephaly 16, primary, autosomal recessive', 'Visceral neuropathy, familial, autosomal recessive', 'Hirschsprung disease with ulnar polydactyly, polysyndactyly of bigtoes, and ventricular septal defect', 'Deafness, congenital, with vitiligo and achalasia', 'Vater associationvacterl association, included', 'Myofibrillar myopathy 10', 'Mental and growth retardation with amblyopia', 'Cowchock syndrome', 'Candidiasis, familial chronic mucocutaneous, autosomal dominant', 'Roussy-Levy hereditary areflexic dystasia', 'Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related', 'Duodenal atresia', 'Loeys-Dietz syndrome 1', 'Iga nephropathy, susceptibility to, 3', 'Spondylometaphyseal dysplasia, corner Fracture type', 'Atrial fibrillation, familial, 2', 'Surfactant metabolism dysfunction, pulmonary, 2', 'Tubulointerstitial kidney disease, autosomal dominant, 1', 'Colorectal cancer, hereditary nonpolyposis, type 5', 'Chondrocalcinosis 1', 'Heart-hand syndrome, Slovenian type', 'Encephalopathy, acute, infection-induced, susceptibility to, 3', 'Stevenson-Carey syndrome', 'Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality', 'Myasthenic syndrome, congenital, 1B, fast-channel', 'Mowat-Wilson syndrome', 'Leopard syndrome 1', 'Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome', 'Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5', 'Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6', 'Atrial fibrillation, familial, 6', 'Hyperphosphatasia with mental retardation syndrome 3', 'Prepapillary vascular loops', 'Venular insufficiency, systemic', 'Spondyloepiphyseal dysplasia, Maroteaux type', 'Chromosome 18q deletion syndrome', 'Cohen-Gibson syndrome', 'Vertebral, cardiac, renal, and limb defects syndrome 1', 'Osteomas of mandible', 'Bardet-Biedl syndrome 18', 'T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY', 'Thoracic dysostosis, isolated', 'Cerebral cavernous malformations 4', 'Immunodeficiency 66', 'Hirschsprung disease, susceptibility to, 5', 'Aganglionosis, total intestinal', 'Spinocerebellar degeneration and corneal dystrophy', 'Diabetes and deafness, maternally inherited', 'Palmaris longus muscle, absence of', 'Toe, misshapen', 'Toes, relative length of first and second', 'Monophalangy of great toe', 'Double nail for fifth toe', 'Carpal displacement', 'Pubic bone dysplasia', 'Pachydermodactyly, familial', 'Toe, fifth, number of phalanges in', 'Myopathy, myofibrillar, 3', 'AURICULOOSTEODYSPLASIA', 'Thumb agenesis, short stature, and immunodeficiency', 'Acromegaloid changes, cutis verticis gyrata, and corneal leukoma', 'MICROCEPHALY-CARDIOMYOPATHY', 'Glaucoma 3, primary congenital, E', 'Exostoses of heel', 'Corneal dystrophy, fuchs endothelial, 3', 'Vertebral, cardiac, renal, and limb defects syndrome 3', 'Corneal dystrophy, fuchs endothelial, 1', 'Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)', 'Immunodeficiency 49', 'Split-Hand/foot malformation 3', 'Long QT syndrome 10', 'Epilepsy, idiopathic generalized, susceptibility to, 18', 'Atrial fibrillation, familial, 15', 'Lumbar stenosis, familial', 'Scheuermann disease', 'Nephronophthisis-like nephropathy 2', 'MEGALENCEPHALY', 'Cardiomyopathy, familial hypertrophic, 7', 'Brachydactyly, type e, with atrial septal defect, type II', 'DERMATOLEUKODYSTROPHY', 'Helix syndrome', 'Agammaglobulinemia 5, autosomal dominant', 'Epilepsy, focal, with speech disorder and with or without mental retardation', 'Knobloch syndrome 2', 'Smith-Mccort dysplasia 1', 'Panhypopituitarism, X-linked', 'Camptomelic syndrome, Long-Limb type', 'Aromatase excess syndrome', 'Hermansky-Pudlak syndrome 8', 'Right ventricular hypoplasia, isolated', 'Pontocerebellar hypoplasia, type 17', 'Frontotemporal dementia and/or amytrophic lateral sclerosis 8', 'Erythema nodosum, familial', 'Tibial torsion, bilateral medial', 'Platyspondylic lethal skeletal dysplasia, Torrance type', 'Diaphragmatic hernia 2', 'Hypersulfaturia', 'Myasthenic syndrome, congenital, 5', 'Intellectual developmental disorder, X-linked, syndromic, Pilorge type', 'Costocoracoid ligament, congenitally short', 'Immunodeficiency 15A', 'Mitochondrial complex I deficiency, nuclear type 10', 'Intellectual developmental disorder, autosomal dominant 21', 'Charcot-Marie-Tooth disease, axonal, type 2A1', 'Triphalangeal thumb, nonopposable', '3-@methylglutaconic aciduria, type IV', 'Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature', 'Spastic paraplegia 79A, autosomal dominant', 'Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis', 'Tendons, extensor, of fingers, anomalous insertion of', 'Vertical talus, congenital', 'Neurodevelopmental disorder with hypotonia, seizures, and absent language', 'Intellectual developmental disorder with autistic features and language delay, with or without seizures', 'Polyposis, intestinal, scattered and discrete', 'Sessile serrated polyposis cancer syndrome', 'Glycinuria with or without oxalate urolithiasis', 'Neurodevelopmental disorder with seizures and speech and walking impairment', 'Melanoma-Pancreatic cancer syndrome', 'Spondyloepiphyseal dysplasia tarda with mental retardation', 'Spondyloepiphyseal dysplasia, Kimberley type', 'Delpire-Mcneill syndrome', 'Alzheimer disease 4', 'Spastic paraplegia 29, autosomal dominant', 'Spondylometaphyseal dysplasia, Sedaghatian type', 'Cataracts, spastic paraparesis, and speech delay', 'Brachmann-De lange-like facial changes with microcephaly, metatarsusadductus, and developmental delay', 'Charcot-Marie-Tooth disease, axonal, type 2I', 'Syndesmodysplasic dwarfism', 'Immunodeficiency, common variable, 10', 'Spondylocostal dysostosis 2, autosomal recessive', 'Muscular dystrophy, congenital, megaconial type', 'Leukodystrophy, hypomyelinating, 17', 'Chondrocalcinosis 2', 'Hydroxylysinuria', 'Paroxysmal nonkinesigenic dyskinesia 1', 'Second metatarsal-metacarpal syndrome', 'Pontocerebellar hypoplasia type 1A', 'Anauxetic dysplasia 1', 'Ventricular tachycardia, familial', 'Myasthenic syndrome, congenital, 3B, fast-channel', 'Epiphyseal dysplasia, multiple, 7', 'Osteoarthritis of distal interphalangeal joints', 'UV-sensitive syndrome 1', 'Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome', 'Pulmonary hypertension, primary, 2', 'Dwarfism, proportionate, with hip dislocation', 'Aphalangia, partial, with syndactyly and duplication of metatarsaliv', 'Ceroid lipofuscinosis, neuronal, 1', 'Sacral agenesis with vertebral anomalies', 'Retinitis pigmentosa 4', 'Pilonidal sinus', 'Thoracopelvic dysostosis', 'Developmental and epileptic encephalopathy 16', 'Lesch-Nyhan syndrome', 'Muscular dystrophy, limb-girdle, type 2B', 'Hyperinsulinemic hypoglycemia, familial, 5', 'Developmental dysplasia of the hip 2', 'Trigger thumb', 'Lynch syndrome I', 'Colorectal cancer, hereditary nonpolyposis, type 2', 'Vertebral hypoplasia with lumbar kyphosis', 'Atrial septal defect 5', 'Atrial septal defect 3', 'Beck-Fahrner syndrome', 'Peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and', 'Myotonia, potassium-aggravated', 'Atrial fibrillation, familial, 12', 'Loeys-Dietz syndrome 4', 'Epiphyseal dysplasia, multiple, 5', 'Neurodevelopmental disorder with eye movement abnormalities and ataxia', 'Craniosynostosis 5, susceptibility to', 'Dubowitz syndrome', 'Orofaciodigital syndrome VI', 'Cone-rod synaptic disorder syndrome, congenital nonprogressive', 'Osteogenesis imperfecta, type XV', 'Toes, space between first and second', 'Achard syndrome', 'Acrodysostosis 1, with or without hormone resistance', 'Auralcephalosyndactyly', 'Bohring-Opitz syndrome', 'Panencephalitis, subacute sclerosing', 'Intellectual developmental disorder, X-linked 111', 'Cardiomyopathy, familial hypertrophic, 25', 'Mismatch repair cancer syndrome 1', 'Left ventricular noncompaction 2', 'Bardet-Biedl syndrome 5', 'Laryngeal abductor paralysis', 'Epilepsy, progressive myoclonic, 6', 'Myasthenic syndrome, congenital, 24, presynaptic', 'Muscular dystrophy, limb-girdle, type 2L', 'Patella, chondromalacia of', 'Microcephaly with chemotactic defect and transient hypogammaglobulinemia', 'Neurodevelopmental disorder with hypotonia, neuropathy, and deafness', 'Muscular dystrophy, limb-girdle, autosomal dominant 4', 'Sotos syndrome', 'Neuronopathy, distal hereditary motor, type X', 'Polydactyly, preaxial III', 'Tetraamelia, autosomal recessive', 'Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated', 'Achalasia-Microcephaly syndrome', 'Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal', 'Cardiomyopathy associated with myopathy and sudden death', 'Muscular dystrophy, congenital, with cataracts and intellectual disability', 'Odontoid hypoplasia', 'Osteogenesis imperfecta, type VI', 'Metatarsus varus, type I', 'Cardiomyopathy, dilated, 1W', 'Migraine, familial hemiplegic, 2', 'Blepharospasm, benign essential, susceptibility to', 'Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies', 'Vertebral, cardiac, renal, and limb defects syndrome 2', 'DIAMINOPENTANURIA', 'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4', 'Sella turcica, bridged', 'Hypoplastic femurs and pelvis', 'Muscular dystrophy, limb-girdle, autosomal recessive 23', 'Cerebellar ataxia, brain abnormalities, and cardiac conduction defects', 'Liberfarb syndrome', 'Colorectal cancer, hereditary nonpolyposis, type 7', 'Colorectal cancer, hereditary nonpolyposis, type 6', 'Roberts-SC phocomelia syndrome', 'Cleidorhizomelic syndrome', 'Charcot-Marie-Tooth disease, axonal, type 2HH', 'Lipoid congenital adrenal hyperplasia', 'Dystonia, DOPA-responsive, with or without hyperphenylalaninemia', 'Cryofibrinogenemia, familial primary', 'Hematuria, benign familial', 'Orthostatic intolerance', 'Blepharochalasis and double lip', 'Exostoses, multiple, type III', 'Asthma, susceptibility to', 'Growth hormone deficiency, isolated, type IB', 'Tibial hemimelia', 'Intellectual developmental disorder, autosomal recessive 9/26', 'Hypogonadotropic hypogonadism 27 without anosmia', 'Mesomelic dwarfism of hypoplastic tibia and Radius type', 'Alazami syndrome', 'Oculopharyngeal myopathy with leukoencephalopathy 1', 'Periventricular nodular heterotopia 7', 'Myxoma, intracardiac', 'Intellectual developmental disorder, autosomal dominant 46', 'Dystonia with cerebellar atrophy', 'Thiemann disease', 'Growth hormone insensitivity, partial', 'Santos syndrome', 'Encephalopathy, neonatal severe, due to mecp2 mutations', 'Brachyolmia type 3', 'Muscular dystrophy, limb-girdle, type 2G', 'Parastremmatic dwarfism', 'Cerebral creatine deficiency syndrome 1', 'Medullary cystic kidney disease 2', 'Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures', 'Thoracoabdominal syndrome', 'Echo virus 11 sensitivity', 'Leprosy, susceptibility to', 'Immune suppression', 'Immunoglobulin D level in plasma, low', 'Radiation sensitivity of natural killer activity', 'Allergic bronchopulmonary aspergillosis', 'Galloway-Mowat syndrome 4', 'Pontocerebellar hypoplasia, type 2A', 'Masp2 deficiency', 'Brody myopathy', 'Hypomagnesemia 6, renal', 'Bardet-Biedl syndrome 10', 'Muscular dystrophy, congenital, Davignon-Chauveau type', 'Bardet-Biedl syndrome 7', 'Tryptophanuria with dwarfism', 'Metachromatic leukodystrophy due to saposin B deficiency', 'Macrocephaly, benign familial', 'Spastic ataxia 5, autosomal recessive', 'Intellectual developmental disorder with persistence of fetal hemoglobin', 'Mental retardation, keratoconus, febrile seizures, and sinoatrialblock', 'Global developmental delay, progressive ataxia, and elevated glutamine', 'Waardenburg-Shah syndrome', 'Joubert syndrome 39', 'Salivary gland adenoma, pleomorphic', 'Palmoplantar keratoderma, epidermolytic', 'Acropectoral syndrome', 'Nephrotic syndrome, type 16', 'Stocco dos santos X-linked mental retardation syndrome', 'Coxa vara', 'Myopathy, mitochondrial, and ataxia', 'Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity', 'Anal canal carcinomacloacogenic carcinoma, included', 'Frontometaphyseal dysplasia 2', 'Schwannomatosis 2', 'Spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-sprangertype', 'Dermodistortive urticaria', 'Thyroid hormonogenesis, genetic defect in, 4', 'Leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis', 'Bone pain, periodic', 'Xanthinuria, type II', 'Meier-Gorlin syndrome 7', 'Abnormal hair, joint laxity, and developmental delay', 'Atrial septal defect 9', 'Multiple endocrine neoplasia, type IIA', 'Short-rib thoracic dysplasia 21 without polydactyly', 'Neurodevelopmental disorder with spasticity and poor growth', 'Hemangioma, capillary infantile', 'Limb-girdle muscular dystrophy, type 1G', 'Episodic ataxia, type 9', 'Cataract, congenital, with mental impairment and dentate gyrus atrophy', 'Short-Rib thoracic dysplasia 18 with polydactyly', 'Peeling skin syndrome 1', 'Spinocerebellar atrophy with pupillary paralysis', 'Leg, absence deformity of, with congenital cataract', 'Pigmentary disorder, reticulate, with systemic manifestations, X-linked', 'Myhre syndrome', 'Slipped femoral capital epiphyses', 'Hypotaurinemic retinal degeneration and cardiomyopathy', 'Cornelia de Lange syndrome 3', 'Amyotrophic dystonic paraplegia', 'Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome', 'Neuropathy, inflammatory demyelinating', 'Dementia, familial danish', 'Spinal muscular atrophy with mental retardation', 'Angiomatosis, diffuse corticomeningeal, of divry and van bogaert', 'Spondyloepiphyseal dysplasia tarda, autosomal dominant', 'Digital clubbing, isolated congenital', 'Alzheimer disease 5', 'Thymoma, familial', 'Alkaptonuria', 'Mirror movements 3', 'TRICHOTILLOMANIA', 'GALACTORRHEA', 'Cranioectodermal dysplasia 4', 'Intellectual developmental disorder, autosomal dominant 54', 'Amyloidosis, primary localized cutaneous, 1', 'Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology', 'Urofacial syndrome 2', 'Nipples, supernumerary', 'Left ventricular noncompaction 7', 'Complement component 4, partial deficiency of', 'ACROOSTEOLYSIS', 'Myasthenic syndrome, congenital, 20, presynaptic', 'Pronation-Supination of the forearm, impairment of', 'Ciliary dyskinesia, primary, 1', 'Cervical rib', 'Charcot-Marie-Tooth disease, axonal, type 2CC', 'IMINOGLYCINURIA', 'Developmental and epileptic encephalopathy 27', 'Giant axonal neuropathy, autosomal dominant', 'Oculopharyngodistal myopathy 3', 'Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2', 'Cardiomyopathy, familial hypertrophic, 20', 'Interstitial nephritis, karyomegalic', 'Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10', 'Aprosencephaly syndrome', 'Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive', 'Osteofibrous dysplasia, susceptibility to', 'Epiphyseal dysplasia, multiple, with miniepiphyses', 'Cardiomyopathy, familial hypertrophic, 9', 'Cardiomyopathy, dilated, 1Q', 'Cardiomyopathy, dilated, 1H', 'Ataxia-telangiectasia-like disorder 2', 'Seckel syndrome 6', 'Cardiomyopathy, familial hypertrophic, 18', 'Retinitis pigmentosa 1', 'Cutis marmorata telangiectatica congenita', 'Kallmann syndrome with spastic paraplegia', 'Hirschsprung disease, susceptibility to, 2', 'Hirschsprung disease, susceptibility to, 4', 'Mental retardation, x-linked, syndromic, Turner type', 'Spastic paraplegia 25, autosomal recessive', 'Corpus callosum, agenesis of', 'Short stature, brachydactyly, intellectual developmental disability, and seizures', 'Knuckle pads', 'Rahman syndrome', 'Hypomandibular faciocranial dysostosis', 'Capillary malformation-arteriovenous malformation 2', 'Spondyloepimetaphyseal dysplasia, X-linked', 'Chondrodysplasia punctata, Tibia-Metacarpal type', 'Immunodeficiency 45', 'Canavan disease', 'Hirschsprung disease with hypoplastic nails and dysmorphic facialfeatures', 'Acrodysostosis 2 with or without hormone resistance', 'Melorheostosis, isolated', 'Cd8 deficiency, familial', 'Pterygium of conjunctiva and cornea', 'Congenital disorder of glycosylation, type Icc', 'Neurodegeneration with brain iron accumulation 3', 'Hyperthyroidism, familial gestational', 'Myotonia with skeletal abnormalities and mental retardation', 'Cutis laxa, neonatal, with marfanoid phenotype', 'Polydactyly, postaxial, type A8', 'Varicella, severe recurrent', 'Coronavirus 229E susceptibility', 'GENOCHONDROMATOSIS', 'Spondylospinal thoracic dysostosis', 'Hypothyroidism, congenital, nongoitrous, 7', 'Ceroid lipofuscinosis, neuronal, 6', 'Metaphyseal dysplasia without hypotrichosis', 'Familial adenomatous polyposis, 2', 'Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities', 'Neurodevelopmental disorder with hypotonia, microcephaly, and seizures', 'Vitamin A metabolic defect', 'Isolated growth hormone deficiency, type II', 'Peripheral dysostosis', 'Myasthenic syndrome, congenital, 19', 'Hallux varus and preaxial polysyndactyly', 'Mucocutaneous ulceration, chronic', 'Charcot-Marie-Tooth disease, type 4C', 'Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities', 'ECTRODACTYLY-POLYDACTYLY', 'Paragangliomas 7', 'Chromosome 3pter-p25 deletion syndrome', 'Cervical vertebral dysplasia', 'Digitotalar dysmorphism', 'Tetralogy of Fallot', 'Intellectual developmental disorder, autosomal dominant 26', 'RHINY', 'Osteoma of middle ear', 'Nemaline myopathy 8', 'Parietal foramina 3', 'Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures', 'Encephalomalacia, multilocular', 'Split-Hand/foot malformation 2', 'Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7', 'Charcot-Marie-Tooth disease, axonal, type 2Y', 'Thauvin-Robinet-Faivre syndrome', 'Myasthenic syndrome, congenital, 21, presynaptic', 'Lissencephaly 1', 'Pituitary hormone deficiency, combined, 2', 'Weismann-Netter syndrome', 'Chilblain lupus 1', 'Keppen-Lubinsky syndrome', 'Episodic ataxia, type 1', 'Epiphyseal dysplasia, multiple, 1', 'Eosinophilic fasciitis', 'Hypokalemic periodic paralysis, type 1', 'Pontocerebellar hypoplasia, type 1B', 'Spinocerebellar ataxia 25', 'Ehlers-danlos syndrome, Hypermobility type', 'Cataract 9, multiple types', 'Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis', 'Prenatal bowing', 'Maleylacetoacetate isomerase deficiency', 'Bardet-Biedl syndrome 15', 'Intellectual developmental disorder, autosomal recessive 72', 'Polydactyly, postaxial, type A5', 'Naxos disease', 'Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting', 'Ankylosing vertebral hyperostosis with tylosisdiffuse idiopathic skeletal hyperostosis, included', 'Tremor, nystagmus, and duodenal ulcer', 'Autoimmune disease', 'Craniosynostosis 7', 'Epileptic encephalopathy, early infantile, 5', 'Multiple exostoses with spastic tetraparesis', 'Patella, familial recurrent dislocation of', 'Mitochondrial complex II deficiency, nuclear type 2', 'Brachyolmia 4 with mild epiphyseal and metaphyseal changes', 'Congenital myopathy 22A, classic', 'MYOSITIS', 'Peripheral neuropathy, myopathy, hoarseness, and hearing loss', 'Meckel syndrome, type 8', 'Spinal muscular atrophy, Jokela type', 'Genitopalatocardiac syndrome', 'Van maldergem syndrome 2', 'Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2', 'Ventricular septal defect 2', 'Greig cephalopolysyndactyly syndrome', 'Immunodeficiency 28', 'Charcot-Marie-Tooth disease, type 4J', 'Fascial dystrophy, congenital', 'Peroneal nerve, accessory deep', 'DIASTEMATOMYELIA', 'Cerebral angiopathy, dysphoric', 'Jumping frenchman of maine', 'Modifier, X-linked, for neurofunctional defects', 'Meralgia paraesthetica, familial', 'Discrimination, two-point, reduction in', 'Hypothyroidism, congenital, nongoitrous, 5', 'Immunodeficiency-centromeric instability-facial anomalies syndrome 4', 'Symphalangism of toes', 'Syndactyly, type III', 'Split-Hand/foot malformation 4', 'Charcot-Marie-Tooth disease, type 1B', 'Syndactyly, type IV', 'Ventriculomegaly with defects of the radius and kidney', 'Polydactyly, postaxial, type A2', 'Cleft palate, cardiac defects, and mental retardation', 'Microcephaly 18, primary, autosomal dominant', 'Cardiomyopathy, dilated, 1cc', 'Epilepsy, nocturnal frontal lobe, 3', 'Thumb, distal hyperextensibility of', 'Complement component 8 deficiency, type I', 'Ceroid lipofuscinosis, neuronal, 5', 'Split-Hand/foot malformation 1 with sensorineural hearing loss', 'Holoprosencephaly, semilobar, with craniosynostosis', 'Amelogenesis imperfecta, type IB', 'Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2', 'Tarsal fusion', 'Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant', 'Tremor, hereditary essential, and idiopathic normal pressure hydrocephalus', 'Short-Rib thoracic dysplasia 20 with polydactyly', 'Skraban-Deardorff syndrome', 'Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1', 'Angioma, tufted', 'Tessadori-van Haaften neurodevelopmental syndrome 4', 'Chromosome 2q35 duplication syndrome', 'Mitochondrial myopathy with diabetes', 'Encephalopathy, progressive, early-onset, with brain atrophy and spasticity', 'Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum', 'Episodic muscle weakness, X-linked', 'Keratolytic winter erythema', 'Peeling skin syndrome, Acral type', 'Erythema of acral regions', 'Cardiomyopathy, dilated, 1AA, with or without LVNC', 'Microcephalic osteodysplastic primordial dwarfism, type II', 'Omphalocele-Cleft palate syndrome, lethal', 'Fontaine progeroid syndrome', 'Spinal muscular atrophy with microcephaly and mental subnormality', 'Intellectual developmental disorder, autosomal recessive 79', 'Joubert syndrome 32', 'Treacher collins syndrome 2', 'Adducted thumbs syndrome', 'Developmental and epileptic encephalopathy 47', 'Arthrogryposis multiplex congenita, Neurogenic type', 'Craniosynostosis, sagittal, with dandy-walker malformation and hydrocephalus', 'Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)', 'Joubert syndrome 13', 'Amyloidosis, hereditary, transthyretin-related', 'Atrioventricular septal defect 5', 'Hyperparathyroidism 2', 'Velocardiofacial syndrome', 'Nemaline myopathy 5C, autosomal dominant', 'White-Sutton syndrome', 'Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies', 'Mental retardation, autosomal recessive 12', 'Mental retardation, autosomal recessive 56', 'Mental retardation, X-linked 20', 'Mental retardation, autosomal recessive 31', 'Triphalangeal thumb with double phalanges', 'Dandy-Walker malformation with occipital cephalocele, autosomal dominant', 'Cutis laxa, autosomal recessive, type IIC', 'Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies', 'Intellectual developmental disorder with impaired language and dysmorphic facies', 'Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis', 'Hypoparathyroidism-retardation-dysmorphism syndrome', 'Poikiloderma, hereditary sclerosing', 'Spinocerebellar ataxia, autosomal recessive 11', 'Neuronopathy, distal hereditary motor, type VIII', 'Candidiasis, familial, 6, autosomal dominant', 'Radioulnar synostosis', 'Brachydactyly, type A1, B', 'Brachydactyly, type E2', 'Synovial chondromatosis, familial, with dwarfism', 'Schimke X-linked mental retardation syndrome', 'Epiphyseal dysplasia, multiple, 4', 'Microcephaly 2, primary, autosomal recessive, with or without cortical malformations', 'Microphthalmia with limb anomalies', 'Atrioventricular septal defect 4', 'Myopathy, myofibrillar, 2, mfm2', 'Complement factor D deficiency', 'Mental retardation, X-linked 50', 'Mental retardation, autosomal recessive 11', 'Split-Hand and split-foot with hypodontia', 'Ectodermal dysplasia/short stature syndrome', 'Inflammatory bowel disease 25, early onset, autosomal recessive', 'Exostoses with anetodermia and brachydactyly, type E', 'Myopathy, congenital', 'Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency', 'Talo-Patello-Scaphoid osteolysis, synovitis, and short fourth metacarpals', 'Avascular necrosis of femoral head, primary, 2', 'Thumbs, stiff, with brachydactyly type A1 and developmental delay', 'Amyotonia congenita', 'Symphalangism, c. s. Lewis type', 'Suleiman-El-Hattab syndrome', 'Pseudovaginal perineoscrotal hypospadias', 'Spastic paraplegia 54, autosomal recessive', 'Hairy elbows', 'Spinocerebellar ataxia 8', 'Crisponi/cold-induced sweating syndrome 1', 'HOMOCARNOSINOSIS', 'Hashimoto thyroiditis', 'Mesomelic dysplasia, Savarirayan type', 'Macular degeneration, early-onset', 'Myopathy, distal, 1', 'Cardioauditory syndrome of sanchez cascos', 'Oliver syndrome', 'Immunodeficiency due to ficolin 3 deficiency', 'Cleft palate, cardiac defect, genital anomalies, and ectrodactyly', 'Mercaptolactate-Cysteine disulfiduria', 'Chorea, benign familial', 'Humeroradial synostosis', 'Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay', 'Mental retardation, autosomal recessive 33', 'Limb defects, distal transverse, with mental retardation and spasticity', 'Tetramelic monodactyly', 'Dyslexia, susceptibility to, 2', 'Immunodeficiency 26 with or without neurologic abnormalities', 'Biemond syndrome II', 'Electroencephalographic peculiarity: 14 and 6 per sec. positive spikephenomenon', 'Electroencephalographic peculiarity: fronto-precentral beta wave groups', 'Ribose 5-phosphate isomerase deficiency', 'Ciliary dyskinesia, primary, 20', 'Sudden cardiac failure, alcohol-induced', 'Retinitis pigmentosa 18', 'Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy', 'Intellectual developmental disorder, autosomal recessive 4', 'Lithium transport', 'Dyskeratosis, hereditary benign intraepithelial', 'Complement component 8 deficiency, type II', 'Orofacial cleft 6, susceptibility to', 'Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies', 'Agenesis of cerebral white matter', 'Lopes-Maciel-Rodan syndrome', 'Presenile dementia, Kraepelin type', 'Cleidocranial dysplasia', 'Deafness, sensorineural, with pituitary dwarfism', 'Femoral-facial syndrome', 'DYSTELEPHALANGY', 'Mirror movements 4', 'Charcot-Marie-Tooth disease, axonal, type 2H', 'Triphalangeal thumbs with brachyectrodactyly', 'Dental anomalies and short stature', 'Cardiomyopathy, familial hypertrophic, 21', 'Upington disease', 'Endometriosis, susceptibility to, 1', 'Spondyloepimetaphyseal dysplasia with joint laxity, type 2', 'FG syndrome 5', 'Angioma serpiginosum, autosomal dominant', 'Breast-Ovarian cancer, familial, susceptibility to, 1', 'Immunodeficiency 79', 'Marfan lipodystrophy syndrome', 'Mycobacterial and viral infections, susceptibility to, autosomal recessive', 'Isovaleric acid, inability to smell', 'Anosmia, congenital', 'SKUNK N-BUTYLMERCAPTAN, INABILITY TO SMELL', 'ANOSMIA', 'Hydrocephalus, congenital communicating, 1', 'Mental retardation, autosomal recessive 35', 'Czech dysplasia, Metatarsal type', 'Marshall-Smith syndrome', 'Grant syndrome', 'Alport syndrome 3, autosomal dominant', 'Parkinson disease, late-onset', 'Mesomelic dysplasia, Kantaputra type', 'Exstrophy of bladder', 'Neurodevelopmental disorder with seizures and brain abnormalities', 'Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type', 'Galloway-Mowat syndrome 5', 'Delayed sleep phase disorder, susceptibility to', 'Advance sleep phase syndrome, familial, 4', 'Short sleep, familial natural, 2', 'Glaucoma 1, open angle, A', 'ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF', 'Rhabdoid tumor predisposition syndrome 1', 'Simpson-Golabi-Behmel syndrome, type 1', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11)', 'Brachydactyly, type D', 'Isolated growth hormone deficiency, type III, with agammaglobulinemia', 'Panic disorder 1', 'Intellectual developmental disorder and hypogonadotropic hypogonadism', 'Acne inversa, familial', 'Immunodeficiency 30', 'Skeletal dysplasia, mild, with joint laxity and advanced bone age', 'Arrhythmogenic right ventricular dysplasia, familial, 6', 'Mitochondrial DNA depletion syndrome 20 (MNGIE type)', 'Fanconi anemia, complementation group O', 'Deafness, congenital heart defects, and posterior embryotoxon', 'Anosmia for isobutyric acid', 'Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant', 'Chromosome 14q11-q22 deletion syndrome', 'Trichorhinophalangeal syndrome, type I', 'Polydactyly, postaxial, type A9', 'Laurence-Moon syndrome', 'Neurodevelopmental disorder with language delay and seizure', 'Fingerprints, absence of', 'Posterior column ataxia', 'Retinitis pigmentosa 29', 'Facial palsy, familial recurrent peripheral', 'Myoclonic epilepsy, Hartung type', 'Epileptic encephalopathy, early infantile, 38', 'Tibia vara', 'Brachydactyly, type A3', 'Sugarman brachydactyly', 'Spastic paraplegia with neuropathy and poikiloderma', 'KELOIDS', 'Polyglucosan body myopathy 2', 'Athabaskan brainstem dysgenesis syndrome', 'Congenital disorder of glycosylation, type IIi', 'Myopathy, myofibrillar, 8', 'Hunter-Mcalpine craniosynostosis syndrome', 'Hypocalcemia, autosomal dominant 1', 'Parasomnia, Sleepwalking type', 'Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity', 'Joubert syndrome 35', 'Sandestig-Stefanova syndrome', 'Pterygium, antecubital', 'Obesity, hyperphagia, and developmental delay', 'Coffin-Siris syndrome 10', 'Mental retardation associated with psoriasis', 'Ciliary dyskinesia, primary, 35', 'Short-Rib thoracic dysplasia 17 with or without polydactyly', 'Epilepsy, idiopathic generalized, susceptibility to, 16', 'Asphyxiating thoracic dystrophy 2', 'Spastic paraplegia 83, autosomal recessive', 'Broad terminal phalanges, familial', 'Lipomatosis, multiple', 'Molar I reinclusion', 'MACROGLOSSIA', 'Osteoarthritis with mild chondrodysplasia', 'Porokeratosis plantaris, palmaris, et disseminata', 'Tumoral calcinosis, normophosphatemic, familial', 'Leukodystrophy, hypomyelinating, 10', 'Candidiasis, familial, 4', 'Birk-Barel mental retardation dysmorphism syndrome', 'Diets-Jongmans syndrome', 'Neurodegeneration due to cerebral folate transport deficiency', 'Trigeminal neuralgia', 'Prosopagnosia, hereditary', 'Hypotonia, infantile, with psychomotor retardation and characteristic facies 1', 'Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans', 'Xp11.22 microduplication syndrome', 'Paroxysmal extreme pain disorder', 'Muscle hypertrophy', 'Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly', 'Neurodevelopmental disorder with speech impairment and with or without seizures', 'Gigantiform cementoma, familial', 'Hyperoxaluria, primary, type II', 'Cone-Rod dystrophy 6', 'Charcot-Marie-Tooth disease, axonal, type 2L', 'C6 deficiency', 'Hypertrophia musculorum vera', 'Tyrosinemia, type III', 'Spastic paraplegia 72, autosomal recessive', 'Fraser syndrome 2', 'Nemaline myopathy 2, autosomal recessive', 'MICROTIA-ANOTIA', 'Neurodevelopmental disorder with neuromuscular and skeletal abnormalities', 'Epilepsy, early-onset, with or without developmental delay', 'Coxoauricular syndrome', 'Cardiomyopathy, dilated, 1JJ', 'Rhabdomyosarcoma 1', 'Spondyloepiphyseal dysplasia, Stanescu type', 'Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2', 'Mental retardation, autosomal recessive 28', 'Amelogenesis imperfecta, type IK', 'Wahab syndrome', 'Nemaline myopathy 10', 'Complement component c1r deficiency', 'Hypertrichosis, congenital anterior cervical, with peripheral sensory', 'Hand osteoarthritis', 'Normokalemic periodic paralysis', 'Central centrifugal cicatricial alopecia', 'Fibrochondrogenesis 1', 'Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities', 'Persistent mullerian duct syndrome, types I and II', 'Emery-Dreifuss muscular dystrophy 7, autosomal dominant', 'Pituitary adenoma 2, GH-secreting', 'Angelman syndrome', 'Peroneus tertius muscle, absence of', 'Schizophrenia 3', 'Rhizomelic dysplasia, Patterson-Lowry type', 'Epilepsy, benign occipital', 'Gastrocutaneous syndrome', 'Rhizomelic dysplasia, Ain-Naz type', 'Leishmaniasis, tegumentary', 'Multiple system atrophy 1, susceptibility to', 'Acrorenal syndrome', 'Marfan syndrome', 'Polydactyly, preaxial I', 'Seckel syndrome 8', 'Methylmalonic acidemia and homocysteinemia, Cblx type', 'Charcot-Marie-Tooth disease, type 4B1', 'Cervical vertebrae, agenesis of', 'Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities', 'Pontocerebellar hypoplasia, type 11', 'Spinocerebellar ataxia, X-linked 2', '3MC syndrome 3', 'Paragangliomas 3', 'Renal tubular dysgenesis', 'Cortical dysplasia, complex, with other brain malformations 12', 'Neurodevelopmental disorder with or without variable brain abnormalities', 'HYPERREFLEXIA', 'Hemifacial spasm, familial', 'Spinocerebellar ataxia 37', 'Lowry-Maclean syndrome', 'Acromesomelic dysplasia 4', 'Rubinstein-Taybi syndrome 1', 'Developmental delay, behavioral abnormalities, and neuropsychiatric disorders', 'Epileptic encephalopathy, early infantile, 88', 'Myoclonic epilepsy, juvenile, 2', 'Mental retardation, autosomal recessive 23', 'Psoriasis 15, pustular, susceptibility to', 'Charcot-Marie-Tooth disease, demyelinating, type 1A', 'Epiphyseal dysplasia, Baumann type', 'Pontocerebellar hypoplasia, type 5', 'Keratosis palmaris et plantaris with clinodactyly', 'Spastic paraplegia with associated extrapyramidal signs', 'Neurodegeneration with brain iron accumulation 1', 'Scapuloperoneal syndrome, neurogenic, Kaeser type', 'Holt-Oram syndrome', 'Encephalitis, acute, infection (viral)-induced, susceptibility to, 11', 'Arthrogryposis-Like hand anomaly and sensorineural deafness', 'Myopathy, congenital, with respiratory insufficiency and bone fractures', 'Spondylometaphyseal dysplasia, Algerian type', 'Dyslexia, susceptibility to, 1', 'Hyperaldosteronism, familial, type IV', 'Synpolydactyly 2', 'Achondroplasia', 'Hypogonadism with low-grade mental deficiency and microcephaly', 'Cerebral creatine deficiency syndrome 2', 'Metaphyseal anadysplasia 2', 'Intellectual developmental disorder, autosomal recessive 71', 'Ataxia with fasciculations', 'Optic atrophy 8', 'Spondyloepimetaphyseal dysplasia, Missouri type', 'Laron syndrome', 'Epilepsy, pyridoxine-dependent', 'Ossified ear cartilages', 'Unique green phenomenon', 'Ocular cicatricial pemphigoid', 'Adamantinoma of long bones', 'Cancer, familial, with in vitro radioresistance', 'Labia minora, incomplete adhesion of', 'Ear malformation', 'Ear folding', 'Myelinated optic nerve fibers', 'Exchondrosis of pinna, posterior', 'Ear antitragus, tag at base of', 'Branchial cleft anomaliesbranchial cysts, included', 'Parotidomegaly, hereditary bilateral', 'Fibromatosis, gingival, 5', 'Dermatosis papulosa nigra', 'Acromial dimples', 'Papillomatosis, florid, of nipple', 'Insect stings, hypersensitivity to', 'Lichen planus, familial', 'Comedones, familial dyskeratotic', 'Dermal ridges, patternless', 'Callosities, hereditary painful', 'Pseudoatrophoderma colli', 'Syringomas, multiple', 'Trichilemmal cyst 1', 'Lacrimoauriculodentodigital syndrome-3', 'Nasal groove, familial transverse', 'Orofacial cleft 3', 'Nasal alar collapse, bilateral', 'Glutamine deficiency, congenital', 'Lip, median nodule of upper', 'Hirschsprung disease, susceptibility to, 3', 'Epilepsy, benign neonatal, 2', 'Ringed hair', 'Toe, rotated fifth', 'Trichodiscomas, familial multiple', 'Tongue, pigmented fungiform papillae of', 'BRADYOPSIA', 'Myopia, infantile severe', 'Myopia 15', 'Ptosis, hereditary congenital 1', 'Deafness, autosomal recessive 96', 'Deafness, autosomal recessive 55', 'Deafness, autosomal recessive 47', 'Deafness, autosomal recessive 6', 'Deafness, autosomal dominant 24', 'Deafness, autosomal dominant 15', 'Deafness, autosomal dominant 54', 'Deafness, autosomal recessive 33', 'Tune deafness', 'Deafness, autosomal recessive 107', 'Deafness, autosomal dominant 52', 'Deafness, autosomal recessive 106', 'Dermatitis herpetiformis, familial', 'Polyhydramnios, chronic idiopathic', 'Candidiasis, familial, 3', 'Melanoma, cutaneous malignant, susceptibility to, 9', 'Focal facial dermal dysplasia 4', 'Spinal muscular atrophy, Facioscapulohumeral type', 'Butyrylcholinesterase deficiency', 'Milia, multiple eruptive', 'Elastosis perforans serpiginosa', 'Paramolar tubercle of bolk', 'Teeth, odd shapes oflobodontia, included', 'Phlebectasia of lips', 'Teeth, fused', 'Incisors, fused mandibular', 'Cataract, autosomal recessive congenital 4', 'Ectopia lentis', 'Cataract 35', 'Cataract, crystalline coralliform', 'Dermal ridges, nelson syndrome', 'Deafness, autosomal dominant 18', 'Deafness, autosomal recessive 91', 'Deafness, autosomal dominant 2B', 'Deafness, unilateral', 'Deafness, aminoglycoside-induced', 'Deafness, autosomal dominant nonsyndromic sensorineural 7', 'Ear without helix', 'Hyperpigmentation of fuldauer and kuijpers', 'Raindrop hypopigmentation', 'Hyperpigmentation, familial progressive, 1', 'Nasal hyperpigmentation, familial transverse', 'Acroleukopathy, symmetric', 'Hydatidiform mole, recurrent, 2', 'Myopia 6', 'Myopia 19, autosomal dominant', 'Myopia 26, X-linked, female-limited', 'Nanophthalmos 2', 'Hyperopia, high', 'Hyperhidrosis, gustatory', 'Deafness, autosomal recessive 22', 'Deafness, autosomal dominant 53', 'Deafness, autosomal recessive 97', 'Deafness, autosomal dominant 25', 'Deafness, neural, congenital moderate', 'Deafness, autosomal recessive 16', 'Deafness, autosomal dominant 40', 'Deafness, autosomal recessive 61', 'Deafness, autosomal dominant 48', 'Deafness, autosomal dominant 30', 'Deafness, autosomal dominant 76', 'Deafness, autosomal recessive 31', 'Deafness, autosomal dominant 47', 'Deafness, autosomal recessive 26', 'Deafness, autosomal dominant nonsyndromic sensorineural 10', 'Deafness, autosomal recessive 116', 'Deafness, autosomal recessive 53', 'Deafness, autosomal dominant 37', 'Deafness, autosomal recessive 113', 'Deafness, neurosensory, autosomal recessive 5', 'DEAFNESS, Y-LINKED 2', 'Deafness, autosomal dominant nonsyndromic sensorineural 12', 'Deafness, autosomal recessive 21', 'Deafness, autosomal dominant 75', 'Deafness, autosomal recessive 27', 'Deafness, autosomal recessive 14', 'Deafness, autosomal dominant 68', 'Deafness, autosomal dominant 44', 'Deafness, autosomal recessive 51', 'Deafness, autosomal recessive 17', 'Deafness, autosomal recessive 99', 'Deafness, autosomal recessive 114', 'Deafness, autosomal dominant 69', 'Deafness, autosomal dominant nonsyndromic sensorineural 3', 'Deafness, autosomal recessive 115', 'Deafness, autosomal recessive 59', 'Deafness, autosomal dominant 27', 'Deafness, autosomal dominant nonsyndromic sensorineural 13', 'Deafness, neurosensory, autosomal recessive 18', 'Deafness, autosomal recessive 100', 'Cataract, zonular pulverulent 3', 'Dystransthyretinemic euthyroidal hyperthyroxinemia', 'Anonychia congenita', 'Koilonychia, hereditary', 'Porokeratosis 6, disseminated superficial Actinic type', 'Acanthosis nigricans', 'Papillomatosis, familial cutaneous', 'Nipples inverted', 'Hypertrichosis universalis congenita, Ambras type', 'Iris pigment epithelium anomalies', 'Dosage-Sensitive sex reversal', 'Darwinian point of pinna', 'Ear pits, posterior helical', 'Achoo syndrome', 'Retinitis pigmentosa, late-adult onset', 'Retinitis pigmentosa 67', 'Retinitis pigmentosa 55', 'Earring holes, natural', 'Rheumatoid nodulosis', 'Steatocystoma multiplex', 'Squamous cell carcinoma, head and neck', 'Nanophthalmos 1', 'Deafness, autosomal dominant 31', 'Deafness, autosomal recessive 77', 'Deafness, autosomal dominant 3B', 'Malocclusion due to protuberant upper front teeth', 'Hematuria, benign familial, 2', 'Corneal dystrophy, band-shaped', 'Myofibromatosis, infantile 2', 'Hypersensitivity pneumonitis, familial', 'Cataract 45', 'Cataract, crystalline aculeiform', 'Cataract, congenital, cerulean type, 5', 'Cataract 13 with adult i phenotype', 'Ureter, bifid or double', 'Ichthyosis, congenital, autosomal recessive 12', 'Cleft palate-lateral synechia syndrome', 'Cataract, age-related nuclear', 'Cataract, nuclear total', 'Nonarteritic anterior ischemic optic neuropathy, susceptibility to', 'Nail disorder, nonsyndromic congenital, 8', 'Dowling-Degos disease', 'Cataract 43', 'Microtia - eye coloboma - imperforation of the nasolacrimal duct', 'Macular dystrophy, fenestrated Sheen type', 'Macular dystrophy, X-linked', 'Cataract, anterior polar, 1', 'Macular degeneration, age-related, 2', 'Ectopia pupillae', 'Anodontia of permanent dentition', 'Nevi flammei, familial multiple', 'Uvula, bifid', 'Leber congenital amaurosis 17', 'Deafness, autosomal dominant nonsyndromic sensorineural 4', 'Deafness, autosomal dominant 79', 'Deafness, autosomal dominant nonsyndromic sensorineural 5', 'Breast-ovarian cancer, familial, susceptibility to, 5', 'Teeth present at birth', 'Pulmonary bullae causing pneumothorax', 'Enuresis, nocturnal, 1', 'Enuresis, nocturnal, 2', 'Deafness, congenital neurosensory, autosomal recessive 40', 'Deafness, autosomal recessive 71', 'Deafness, autosomal recessive 45', 'Deafness, autosomal recessive 85', 'Deafness, congenital neurosensory, autosomal recessive 38', 'Deafness, congenital neurosensory, autosomal recessive 39', 'Deafness, autosomal recessive 62', 'Deafness, autosomal recessive 44', 'Deafness, autosomal recessive 83', 'Deleted in azoospermia', 'Hyperparathyroidism, primary, caused by water clear cell hyperplasia', 'Orofacial cleft 14', 'Hypotrichosis 2', 'Hypotrichosis 15', 'Glaucoma 3, primary infantile, B', 'Night blindness, congenital stationary, autosomal dominant 2', 'Night blindness, congenital stationary, autosomal dominant 3', 'Deafness, neurosensory, autosomal recessive 46', 'Preimplantation embryonic lethality 1', 'Small cell cancer of the lung', 'Mediosternal depigmentation line', 'Ichthyosis, Bullous type', 'Parotid salivary glands, polycystic dysgenetic disease of', 'Alopecia, familial focal', 'Cleft soft palate', 'Coloboma of macula', 'Melanoma, cutaneous malignant, susceptibility to, 8', 'Melanoma, cutaneous malignant, susceptibility to, 2', 'Lentiginosis, inherited patterned', 'Hairy palms and soles', 'Otosclerosis 10', 'Aplasia cutis congenita, nonsyndromic', 'Vesicoureteral reflux, X-linked', 'Melanoma, uveal', 'Melanoma, malignant familial intraocular', 'Nevus flammeus of nape of neck', 'Incisors, rotation of upper central', 'Testicular germ cell tumor 1', 'Ureter, cancer of', 'Hyperpigmentation of eyelids', 'Pruritic urticarial papules and plaques of pregnancy', 'DISTICHIASIS', 'Striae distensae, familial', 'TRISTICHIASIS', 'Nystagmus 7, congenital, autosomal dominant', 'Deafness, autosomal recessive 88', 'Oncocytoma', 'Keratoconus 8', 'Keratoconus 5', 'Keratoconus 6', 'Keratoconus 7', 'Dowling-Degos disease 3', 'Hypospadias 3, autosomal', 'Preauricular fistulae, congenital', 'Cafe-Au-Lait spots, multiple', 'Canine teeth, absence of upper permanent', 'Thyroid cancer, nonmedullary, 3', 'Thyroid carcinoma, familial medullary', 'Thyroid cancer, nonmedullary, 5', 'Nasopharyngeal carcinoma, susceptibility to, 3', 'Central incisors, absence of', 'Wilms tumor 4', 'Wilms tumor 3', 'Multiple fibroadenomas of the breast', 'Hyperhidrosis palmaris et plantaris', 'TAURODONTISM', 'Palmoplantar keratoderma, nonepidermolytic, focal 2', 'Keratoderma, palmoplantar, punctate type IB', 'Prostate cancer, hereditary, X-linked 1', 'Incisors, lower central, absence of', 'Teratoma, ovarian', 'Ovarian fibromata', 'Otitis media, susceptibility to', 'Preeclampsia/eclampsia 5', 'Pregnancy loss, recurrent, susceptibility to, 1', 'Pregnancy loss, recurrent, susceptibility to, 2', 'Pregnancy loss, recurrent, susceptibility to, 3', 'Hemifacial hyperplasia', 'Immunodeficiency 29', 'Polydactyly, preaxial IV', 'Li-Ghorgani-Weisz-Hubshman syndrome', 'Trochlea of the humerus, aplasia of', 'Keratitis, hereditary', 'Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy', 'Split-Hand/foot malformation 6', 'Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant', 'Chromosome 6q25-q25 deletion syndrome', 'Megaepiphyseal dwarfism', 'Brachydactyly, type E', 'Epiphyseal dysplasia, multiple, 6', 'Immunodeficiency 39', 'Neuropathy, hereditary sensory, type IF', 'Ventriculomegaly with cystic kidney disease', 'Dysphasia, familial developmental', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9', 'Hirschsprung disease, cardiac defects, and autonomic dysfunction', 'Filippi syndrome', 'Muscular dystrophy, adult-onset, with leukoencephalopathy', 'Coloboma-Obesity-Hypogenitalism-Mental retardation syndrome', 'Growth hormone deficiency, isolated, type IV', 'Polydactyly, postaxial, with progressive myopia', 'Oral sensibility, disturbance of', 'Protrusio acetabuli', 'Orofacial cleft 13', 'Paine syndrome', 'Hypoplastic left heart syndrome 2', 'Epilepsy, familial focal, with variable foci 2', 'Tetramelic deficiencies, ectodermal dysplasia, deformed ears, andother abnormalities', 'Megabladder, congenital', 'Tardive dyskinesia', 'Retinal degeneration and epilepsy', 'Deafness, autosomal dominant 9', 'Hypergonadotropic hypogonadism', 'Mental retardation, microcephaly, epilepsy, and coarse face', 'Mental retardation, X-linked, with isolated growth hormone deficiency', 'Microcephaly 8, primary, autosomal recessive', 'Peyronie disease', 'Vesicoureteral reflux 8', 'GAPO syndrome', 'HYPOGLOSSIA-HYPODACTYLIA', 'Adrenocortical carcinoma, pediatric', 'Chromosome 1q21.1 duplication syndrome', 'Ataxia, deafness, and cardiomyopathy', 'Ulnar hypoplasia', 'Scalp defects and postaxial polydactyly', 'Precocious puberty, central', 'Leber optic atrophy', 'Gerstmann-Straussler disease', 'Dentinogenesis imperfecta 1', 'Leukodystrophy, hypomyelinating, 9', 'Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features', 'Tay-Sachs disease', 'Mental retardation, X-linked 2', 'Migraine, with or without aura, susceptibility to, 13', 'Hydrocephalus, congenital, 5, susceptibility to', 'Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant', 'Hemophilia A', 'Synostosis, carpal, with dysplastic elbow joints and brachydactyly', 'Spinocerebellar ataxia 44', 'Tremor, hereditary essential, 4', 'Laryngeal adductor paralysis', 'Epilepsy, benign neonatal, 3', 'Geniospasm 1', 'Polyposis syndrome, hereditary mixed, 2', 'Lentiginosis, centrofacial neurodysraphic', 'Intellectual developmental disorder, autosomal dominant 66', 'Joint laxity, short stature, and myopia', 'Nephrotic syndrome, type 17', 'Hypouricemia, renal, 1', 'Alopecia-Mental retardation syndrome 2', 'Cutis verticis gyrata and mental deficiency', 'Ichthyosis-Mental retardation syndrome with large keratohyalin granules in the skin', 'Episodic ataxia, type 6', 'C7 deficiency', 'Mesomelic limb shortening and bowing', 'Spondylometaphyseal dysplasia with corneal dystrophy', 'Deafness, autosomal dominant 78', 'Frontotemporal dementia', 'Lethal short-limb skeletal dysplasia, al Gazali type', 'Anencephaly', 'Epilepsy, juvenile myoclonic, susceptibility to, 9', 'Colorectal cancer, hereditary nonpolyposis, type 4', 'Nephrolithiasis, calcium oxalate', 'Sonoda syndrome', 'Parietal foramina with cleidocranial dysplasia', 'Advanced sleep phase syndrome, familial, 3', 'Vitreoretinopathy with phalangeal epiphyseal dysplasia', 'Dystonia 31', 'Attention deficit-hyperactivity disorder', 'Surfactant metabolism dysfunction, pulmonary, 3', 'Hydrocephalus, nonsyndromic, autosomal recessive 1', 'Kapur-Toriello syndrome', 'Lissencephaly, X-linked, 2', '46XY sex reversal 5', 'Tibia, hypoplasia or aplasia of, with polydactyly', 'Aplasia of extensor muscles of fingers, unilateral, with generalizedpolyneuropathy', 'Jaundice, familial obstructive, of infancy', 'Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5', 'Amelogenesis imperfecta, hypomaturation type, iia4', 'Amyloidosis, Finnish type', 'Li-Fraumeni syndrome 2', 'Alpha-aminoadipic and alpha-ketoadipic aciduria', 'Torsion dystonia with onset in infancy', 'Leukoencephalopathy with dystonia and motor neuropathy', 'Stuttering, familial persistent, 1', 'White forelock with malformations', 'Trichorhinophalangeal syndrome, type II', 'Amelogenesis imperfecta, hypomaturation type, iia3', 'Exercise intolerance, riboflavin-responsive', 'Thanatophoric dysplasia, type I', 'Major affective disorder 1', 'Intellectual developmental disorder, autosomal dominant 3', 'Femur, unilateral bifid, with monodactylous ectrodactyly', 'Hyperbilirubinemia, Rotor type, digenic', 'Fundus dystrophy, pseudoinflammatory, recessive form', 'Nicolaides-Baraitser syndrome', 'Ehlers-Danlos syndrome, periodontal type, 1', 'Adams-Oliver syndrome 4', 'Muscular dystrophy, Barnes type', 'Mental retardation, autosomal recessive 10', 'Aplastic anemia', 'Leukemia, chronic myeloid', 'AICA-ribosiduria due to ATIC deficiency', 'Neurodevelopmental disorder with absent language and variable seizures', 'Retinal dystrophy with leukodystrophy', 'Campomelic dysplasia', 'Adie pupil', 'Facial spasm', 'Nephrotic syndrome, type 5, with or without ocular abnormalities', 'Chromosome 18p deletion syndrome', 'Nephrotic syndrome, type 19', 'L-2-hydroxyglutaric aciduria', 'Microcephaly 24, primary, autosomal recessive', 'Photoparoxysmal response 1', 'Split-Foot deformity with mandibulofacial dysostosis', 'Spastic paraplegia 44, autosomal recessive', 'Muscular dystrophy, hemizygous Lethal type', 'Pseudoachondroplasia', 'Epidermolysis bullosa simplex 2E, with migratory circinate erythema', 'Dysautonomia-Like disorder', 'Hemihyperplasia, isolated', 'Mesangial sclerosis, diffuse renal, with ocular abnormalities', 'Oculoectodermal syndrome', 'Muscular dystrophy, pseudohypertrophic, with internalized capillaries', 'Pituitary adenoma, growth hormone-secreting, 1', 'Abducens palsy', 'Meckel syndrome 11', 'Acne inversa, familial, 3', 'Cortical dysplasia, complex, with other brain malformations 3', 'Phocomelia-Ectrodactyly, ear malformation, deafness, and sinus arrhythmia', 'Kifafa seizure disorder', 'Arms, malformation of', 'Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies', 'Apnea, central sleep', 'Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)', 'Hyper-IgE recurrent infection syndrome 4A, autosomal dominant', 'Brachydactyly, type A6', 'Dystonia, focal, task-specific', 'Myoclonus, familial, 2', 'Chromosome 17q23.1-q23.2 duplication syndrome', 'Musk, inability to smell', 'Craniosynostosis with fibular aplasia', 'Coffin-Siris syndrome 5', 'Epiphyseal dysplasia of femoral head, myopia, and deafness', 'MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6', 'Melanoma-Astrocytoma syndrome', 'Hirschsprung disease with polydactyly, renal agenesis, and deafness', 'Epilepsy, childhood absence, susceptibility to, 5', 'Pontocerebellar hypoplasia, type 2B', 'Split-Hand/foot malformation 1', 'Talonavicular coalition', 'Thumb deformity and alopecia', 'Ehlers-Danlos syndrome, arthrochalasia type, 2', 'Giant axonal neuropathy 1, autosomal recessive', 'Nievergelt syndrome', 'Muscular dystrophy, limb-girdle, autosomal recessive 27', 'Episodic pain syndrome, familial, 2', 'Dementia/parkinsonism with non-alzheimer amyloid plaques', 'Spinal muscular atrophy, type IV', 'Digital arthropathy-brachydactyly, familial', 'Cutis laxa, autosomal recessive, type IIE', 'Microcephaly, congenital heart disease, unilateral renal agenesis,and hyposegmented lungs', 'TORTICOLLIS', 'Megalencephalic leukoencephalopathy with subcortical cysts 3', 'Wiedemann-Rautenstrauch syndrome', 'Cystic disease of lung', 'Patella aplasia-hypoplasia', 'Syndactyly-Polydactyly-Earlobe syndrome', 'Spastic paraplegia 85, autosomal recessive', 'Intellectual developmental disorder, autosomal recessive 7', 'Corneal fleck dystrophy', 'Vocal cord paralysis and ptosis', 'Pleuropulmonary blastoma', 'Metaphyseal dysostosis, mental retardation, and conductive deafness', 'Choroidal dystrophy, central areolar 2', 'Alzheimer disease 10', 'Dystonia 15, myoclonic', 'Maxillofacial dysostosis', 'Waardenburg syndrome, type 3', 'Ectodermal dysplasia and neurosensory deafness', 'Cranial nerves, congenital paresis of', 'Glycine encephalopathy 2', 'Vitreoretinopathy, neovascular inflammatory', 'Epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia', 'Epilepsy, familial adult myoclonic, 6', 'Wiedemann-Steiner syndrome', 'Epilepsy, familial focal, with variable foci 3', 'Amyotrophic lateral sclerosis 3', 'Myasthenic syndrome, congenital, 3A, slow-channel', 'Gastric cancer, hereditary diffuse', 'Intellectual developmental disorder with autism and macrocephaly', 'Lessel-Kubisch syndrome', 'Crome syndrome', 'Epilepsy, photogenic, with spastic diplegia and mental retardation', 'Hypomagnesemia, seizures, and mental retardation 2', 'Retinitis pigmentosa 88', 'Retinitis pigmentosa 57', 'Lissencephaly 9 with complex brainstem malformation', 'Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome', 'ANONYCHIA-ECTRODACTYLY', 'Triphalangeal thumb-polysyndactyly syndrome', 'Lipoma of the conjunctiva', 'Retinitis pigmentosa 71', 'Neuropathy, hereditary sensory and autonomic, type IIB', 'Ciliary dyskinesia, primary, 14', 'Myotonia congenita, autosomal recessive', 'Epilepsy, familial temporal lobe, 7', 'Testicular anomalies with or without congenital heart disease', 'Mental retardation, X-linked, syndromic 12', 'Osteochondrodysplasia, brachydactyly, and overlapping malformed digits', 'Congenital heart defects and ectodermal dysplasia', 'Glomerulopathy with fibronectin deposits 2', 'Mental retardation, X-linked 95', 'Amelogenesis imperfecta, hypomaturation type, IIA6', 'Amelogenesis imperfecta, type IIIB', 'Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay', 'Intellectual developmental disorder, autosomal recessive 59', 'Brachydactyly-Ectrodactyly with fibular aplasia or hypoplasia', 'Epilepsy, idiopathic generalized, susceptibility to, 3', 'Al-Raqad syndrome', 'Megalencephalic leukoencephalopathy with subcortical cysts 2A', 'Mental retardation, x-linked syndromic, Raymond type', 'Pelvic lipomatosis with crossed renal ectopia', 'Charcot-Marie-Tooth disease, demyelinating, type 4F', 'Neuropathy, hereditary motor and sensory, with deafness, mental retardation,and absent sensory large myelinated fibers', 'Rombo syndrome', 'Intellectual developmental disorder, autosomal recessive 16', 'Adactylia, unilateral', 'Retinitis pigmentosa 37', 'Epidermodysplasia verruciformis 2', 'C1q deficiency', 'Glioma susceptibility 2', 'Microcephaly 30, primary, autosomal recessive', 'Brain small vessel disease 3', 'Spondylometaphyseal dysplasia, X-linked', 'Rett syndrome, congenital variant', 'Alzheimer disease 2', 'Colorectal cancer, susceptibility to, 12', 'Chromosome 2q37 deletion syndrome', 'Hypomelia with mullerian duct anomalies', 'Amastia, bilateral, with ureteral triplication and dysmorphism', 'Muscular dystrophy, congenital, with rapid progression', 'Neurodevelopmental disorder with central hypotonia and dysmorphic facies', 'Saul-Wilson syndrome', 'Huntington disease-like 3', 'Angiolipomatosis, familial', 'Intellectual developmental disorder, autosomal dominant 72', 'Megalencephaly with dysmyelination', 'Pontocerebellar hypoplasia, type 2C', 'Spastic diplegia, Infantile type', 'Woodhouse-Sakati syndrome', 'Hypochondroplasia', 'Ruvalcaba syndrome', 'Myopia 1, X-linked', 'Neurodevelopmental disorder with speech impairment and dysmorphic facies', 'Epilepsy, reading', 'Townes-Brocks syndrome 2', 'Cleft palate, psychomotor retardation, and distinctive facial features', 'Combined oxidative phosphorylation deficiency 6', 'Pachygyria with mental retardation, seizures, and arachnoid cysts', 'Intellectual developmental disorder, autosomal dominant 52', 'Polycystic kidney disease 7', 'Symphalangism, proximal, 1B', 'Intellectual developmental disorder with speech delay and axonal peripheral neuropathy', 'Attention deficit-hyperactivity disorder, susceptibility to, 7', 'Pierre Robin syndrome and oligodactyly', 'Myoclonic epilepsy, juvenile, susceptibility to, 4', 'Mental retardation, autosomal recessive 29', 'Dystonia 23', 'Advanced sleep phase syndrome, familial, 1', 'Coffin-Siris syndrome 3', 'Leber congenital amaurosis 10', 'Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant', 'Microphthalmia, isolated 4', 'Hyperekplexia 2', 'Spondyloepiphyseal dysplasia with atlantoaxial instability', 'Neuronopathy, distal hereditary motor, type I', 'Ataxia-Deafness-Retardation syndrome', 'Autism, susceptibility to, X-linked 2', 'Intellectual developmental disorder, autosomal recessive 19', 'Immunodeficiency-Centromeric instability-facial anomalies syndrome 3', 'Achondroplasia, severe, with developmental delay and acanthosis nigricans', 'Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)', 'Epilepsy with grand mal seizures on awakening', 'Lethal congenital contracture syndrome 7', 'Charcot-Marie-Tooth disease, demyelinating, type 1C', 'Epilepsy, familial adult myoclonic, 7', 'Muscular atrophy, malignant neurogenic', 'Basilar impression, primary', 'Spastic paresis, glaucoma, and mental retardation', 'Charcot-Marie-Tooth disease, dominant intermediate A', 'Aprosencephaly and cerebellar dysgenesis', 'Pemphigus vulgaris, familial', 'Mental retardation, obesity, mandibular prognathism, and eye and skinanomalies', 'Spondylometaphyseal dysplasia with cone-rod dystrophy', 'CAMPTOBRACHYDACTYLY', 'Oculocerebral syndrome with hypopigmentation', 'Bardet-Biedl syndrome 4', 'Myoclonus, cerebellar ataxia, and deafness', 'Arthrogryposis, distal, type 1B', 'Klippel-Feil syndrome 3, autosomal dominant', 'Fetal akinesia deformation sequence 2', 'Hip dysplasia, Beukes type', 'Meningioma, familial, susceptibility to', 'Ciliary dyskinesia due to transposition of ciliary microtubules', 'Ventriculomegaly and arthrogryposis', 'Langer mesomelic dysplasia', 'Split lower lip', 'Breast cancer', 'Pneumothorax, primary spontaneous', 'Intellectual developmental disorder, X-linked 88', 'Chromosome 4q32.1-q32.2 triplication syndrome', 'Multiple tumor-associated chromosome region 1', 'Wilms tumor 1', 'Wilms tumor 5', 'Prostate cancer', 'Charcot-Marie-Tooth disease, recessive intermediate D', 'Endometrial carcinoma, somatic', 'Prognathism, mandibular', 'Tarsal-Carpal coalition syndrome', 'Metaphyseal chondrodysplasia, Spahr type', 'Incisors, shovel-shaped', 'Craniosynostosis, Adelaide type', 'Microcephaly 28, primary, autosomal recessive', 'Peroxisome biogenesis disorder 2B', 'Colorectal cancer, susceptibility to, 10', 'Reticulum cell sarcoma', 'Dermoids of cornea', 'Cowden syndrome 7', 'Genitourinary tract anomalies', 'LENTIGINES', 'Hamartoma, precalcaneal congenital fibrolipomatous', 'Kyrle disease', 'Atrophia maculosa varioliformis cutis, familial', 'Parkinson disease 13', 'Ptosis, strabismus, and ectopic pupils', 'Glaucoma 1, primary open angle, C', 'Fibrosis of extraocular muscles, congenital, with synergistic divergence', 'Peeling skin syndrome 3', 'Lip, hamartomatous', 'Nephrotic syndrome, type 12', 'Preimplantation embryonic lethality 2', 'Cryptotia, familial', 'Pelvis-Shoulder dysplasia', 'Question mark ears, isolated', 'Grouped pigmentation of the macula', 'Cone-Rod dystrophy 9', 'Marcus gunn phenomenon', 'Cornea guttata with anterior polar cataracts', 'Night blindness, congenital stationary, type 1I', 'Glaucoma, primary open angle', 'Epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase', 'Deafness, autosomal dominant 58', 'Deafness, autosomal recessive 1B', 'Erythrokeratodermia variabilis et progressiva 2', 'Deafness, autosomal recessive 20', 'DEAFNESS, Y-LINKED 1', 'Deafness, autosomal recessive 57', 'Deafness, autosomal dominant 67', 'Deafness, autosomal dominant 43', 'Deafness, autosomal recessive 13', 'Deafness, autosomal dominant 16', 'Deafness, autosomal recessive 25', 'Otosclerosis 8', 'Deafness, autosomal recessive 117', 'Keratoderma, palmoplantar, with deafness', 'Deafness, autosomal recessive 94', 'Deafness, autosomal recessive 86', 'Deafness, autosomal recessive 65', 'Deafness, autosomal dominant 88', 'Deafness, autosomal recessive 93', 'Deafness, autosomal recessive 48', 'Nystagmus, congenital motor, autosomal recessive', 'Glaucoma 1, open angle, M', 'Atrichia with papular lesions', 'Oguchi disease-2', 'Oguchi disease 1', 'Vitiligo-associated multiple autoimmune disease susceptibility 6', 'Myopia 22, autosomal dominant', 'Megalencephalic leukoencephalopathy with subcortical cysts 1', 'Episodic pain syndrome, familial, 1', 'Corneal dystrophy, posterior polymorphous, 2', 'Corneal dystrophy, posterior polymorphous, 4', 'Alopecia, congenital', 'Cataract and congenital ichthyosis', 'Deafness with anhidrotic ectodermal dysplasia', 'Trichomegaly', 'Adrenocortical unresponsiveness to acth with postreceptor defect', 'Deafness, autosomal recessive 30', 'Corneal dystrophy, Central type', 'Corneal dystrophy, crystalline, of schnyder', 'Hydatidiform mole, recurrent, 4', 'Myopia-3', 'Deafness, autosomal dominant nonsyndromic sensorineural 17', 'Deafness, autosomal recessive 102', 'Myopia 27', 'Reese retinal dysplasia', 'Retinal dysplasia, primary', 'Coloboma of optic nerveoptic nerve head pits, bilateral congenital, included', 'Leber optic atrophy, susceptibility to', 'Cylindromatosis, familial', 'Mental retardation, X-linked 73', 'Myopia 21, autosomal dominant', 'Myopia 24, autosomal dominant', 'Deiodinase, iodothyronine, type I', 'Thyroid hormone plasma membrane transport defect', 'Microphthalmia, isolated 7', 'Deafness, autosomal recessive 67', 'Cataract, anterior polar, 2', 'Thyroid dyshormonogenesis 6', 'Brown syndrome', 'Deafness, autosomal recessive 36, with or without vestibular involvement', 'Deafness, autosomal dominant 22', 'Deafness, autosomal recessive 15', 'Oocyte maturation defect 12', 'Porokeratosis 7, multiple types', 'Ossicular malformations, familial', 'Emphysema, congenital lobar', 'Granulosis rubra nasi', 'Deafness, autosomal dominant 59', 'Deafness, autosomal recessive 112', 'Deafness, autosomal recessive 98', 'Blistering, acantholytic, of oral and laryngeal mucosa', 'Deafness, autosomal recessive 68', 'Deafness, autosomal dominant nonsyndromic sensorineural 28', 'Deafness, autosomal recessive 66', 'Deafness, autosomal recessive 23', 'Deafness, autosomal recessive 120', 'ACROKERATOELASTOIDOSIS', 'Aplasia cutis congenita of limbs, recessive', 'Hypotrichosis 9', 'Hypertrichosis universalis', 'Porokeratosis punctata palmaris et plantaris', 'Usher syndrome, type IIA', 'Usher syndrome, type IIC', 'Brittle cornea syndrome 2', 'Cone-Rod dystrophy, X-linked, 2', 'Retinitis pigmentosa 24', 'Spinal muscular atrophy, scapuloperoneal', 'Deafness, autosomal recessive 109', 'Corneal dystrophy, punctiform and polychromatic pre-Descemet', 'Ankyloglossia with or without tooth anomalies', 'Diastema, dental medial', 'Bronchiectasis with or without elevated sweat chloride 3', 'Impacted teeth, multiple', 'Trichoepithelioma, multiple familial, 1', 'Deafness, autosomal recessive 63', 'URETEROCELE', 'Vesicoureteral reflux 2', 'Choroidal dystrophy, central areolar 3', 'Orofacial cleft 5', 'Nystagmus 3, congenital, autosomal dominant', 'Fraser-Like syndrome', 'Cataract, autosomal recessive congenital 5', 'Hyperkeratosis lenticularis perstans', 'Uterine anomalies', 'OTOSCLEROSIS', 'Oocyte maturation defect 8', 'Pigmented nodular adrenocortical disease, primary, 3', 'Macular degeneration, age-related, 15, susceptibility to', 'Larynx, congenital partial atresia of', 'Pulmonary hypoplasia, primary', 'Tooth agenesis, selective, 1', 'Fibromatosis, gingival, with progressive deafness', 'Spermatogenic failure 53', 'Spermatogenic failure 31', 'Oocyte maturation defect 6', 'Spermatogenic failure 17', 'Spermatogenic failure 87', 'Deafness, autosomal recessive 49', 'Deafness, progressive, with stapes fixation', 'Spermatogenic failure 13', 'Oocyte/zygote/embryo maturation arrest 18', 'Oocyte maturation defect 3', 'Oocyte maturation defect 11', 'Oocyte/zygote/embryo maturation arrest 19', 'Deafness, neurosensory, autosomal recessive 3', 'Deafness, autosomal recessive, 24', 'Deafness, autosomal recessive 28', 'Otosclerosis 4', 'Tooth agenesis, selective, 7', 'Short tarsus with absence of lower eyelashes', 'Goiter, multinodular 1', 'Uveal melanoma, susceptibility to, 1', 'Melanoma, uveal, susceptibility to, 2', 'Nail disorder, nonsyndromic congenital, 9', 'Prostatic hyperplasia, benign', 'Nail disorder, nonsyndromic congenital, 5', 'Commissural lip pits', 'Preauricular tag, isolated, autosomal dominant, 1', 'Dyschromatosis symmetrica hereditaria 1', 'Dyschromatosis universalis hereditaria', 'Epidermolysis bullosa simplex 2B, generalized intermediate', 'Palmoplantar keratoderma, Bothnian type', 'Palmoplantar keratoderma, nonepidermolytic', 'Prostate cancer, hereditary, 1', 'Schwannomatosis', 'Epilepsy, familial temporal lobe, 3', 'Cochleosaccular degeneration of the inner ear with progressive cataracts', 'Myopia 2, autosomal dominant', 'Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2', 'Split-Foot malformation with mesoaxial polydactyly', 'Ciliary dyskinesia, primary, 10', 'Polydactyly, postaxial, type A10', 'Febrile convulsions, familial, 9', 'Autoimmune disease, susceptibility to, 1', 'Calvarial hyperostosis', 'Dermochondrocorneal dystrophy', 'Charcot-marie-tooth disease, type 4H', 'Meleda disease', 'Retinitis pigmentosa 78', 'Insensitivity to pain, congenital, with anhidrosis', 'Microcornea, glaucoma, and absent frontal sinuses', 'Ehlers-danlos syndrome, type I', 'Retinitis pigmentosa 42', 'AREDYLD', 'Attention deficit-hyperactivity disorder 8', 'Short stature and facioauriculothoracic malformations', 'Chopra-Amiel-Gordon syndrome', 'Retinal dystrophy and obesity', 'Mental retardation, X-linked 92', 'Episodic ataxia, type 7', 'Amelogenesis imperfecta, type III', '46XY gonadal dysgenesis with minifascicular neuropathy', 'Oculopalatocerebral syndrome', 'Lethal congenital contracture syndrome 4', 'Delayed puberty, self-limited', 'Neurodegeneration with brain iron accumulation 2B', 'Prolactin deficiency, isolated', 'Lethal congenital contracture syndrome 3', 'Polydactyly, postaxial, type A1', 'Lateral meningocele syndrome', 'Microcephaly 12, primary, autosomal recessive', 'Leukoencephalopathy with vanishing white matter', 'Muscular dystrophy, congenital, with infantile cataract and hypogonadism', 'Pulmonary hypertension, primary, 3', 'Spastic paraplegia 7, autosomal recessive', 'Lissencephaly 8', 'Leptin deficiency or dysfunction', 'STAR syndrome', 'Holoprosencephaly 2', 'Focal segmental glomerulosclerosis 7', 'Neuropathy, hereditary motor and sensory, Russe type', 'Ehlers-Danlos syndrome, classic-like', 'Spinocerebellar ataxia 6', 'Ceroid lipofuscinosis, neuronal, 2', 'Fibromatosis, gingival, 1', 'Cahmr syndrome', 'Ophthalmoplegia, progressive, with scrotal tongue and mental deficiency', 'Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies', 'Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures', 'Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3', 'Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant', 'Ectodermal dysplasia-syndactyly syndrome 1', 'Myopathy, myofibrillar, 9, with early respiratory failure', 'Paragangliomas 1', 'Hypoparathyroidism, X-linked', 'Pituitary adenoma 5, multiple types', 'Curved nail of fourth toe', 'Camptosynpolydactyly, complex', 'Ichthyosis-Cheek-Eyebrow syndrome', 'Spondyloarthropathy, susceptibility to, 1', 'Immunodeficiency 106, susceptibility to viral infections', 'Retinitis pigmentosa 9', 'Chromosome 5q12 deletion syndrome', 'Radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillarydiastema', 'Focal segmental glomerulosclerosis 8', 'Nephrotic syndrome, type 18', 'Mental retardation, autosomal dominant 10', 'Febrile seizures, familial, 11', 'Neurofibromatosis, type III, mixed central and peripheral', 'Asthma, nasal polyps, and aspirin intolerance', 'Spinocerebellar ataxia 14', 'Alopecia-Mental retardation syndrome 1', 'Senior-Loken syndrome 7', 'Alopecia-Mental retardation syndrome 3', 'Ear exostoses', 'Cerebellar ataxia and neurosensory deafness', 'Vestibulopathy, familial', 'Chromosome 8q22.1 duplication syndrome', 'Nystagmus, hereditary vertical', 'Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome', 'Mental retardation, autosomal recessive 25', 'Intellectual developmental disorder, autosomal recessive 50', 'Polymicrogyria, bilateral perisylvian', 'Paroxysmal nonkinesigenic dyskinesia 2', 'Inclusion body myopathy and brain white matter abnormalities', 'Polydactyly, preaxial II', 'Spastic paraplegia 5A, autosomal recessive', 'Polycystic kidney disease, infantile severe, with tuberous sclerosis', 'Mental retardation, X-linked 97', 'Convulsive disorder, familial, with prenatal or early onset', 'Microcephalic osteodysplastic primordial dwarfism, type III', 'Intellectual developmental disorder with dysmorphic facies and ptosis', 'Nemaline myopathy 4', 'Ceroid lipofuscinosis, neuronal, 6B (Kufs type)', 'Tremor, hereditary essential, 2', 'Polydactyly, postaxial, type A7', 'Asphyxiating thoracic dystrophy 3', 'Dystonia 35, childhood-onset', 'Charcot-Marie-Tooth disease, axonal, type 2R', 'Retinitis pigmentosa 51', 'Mental retardation, X-linked 91', 'Metaphyseal chondrodysplasia, Schmid type', 'Chudley-Mccullough syndrome', 'Multiple synostoses syndrome 4', 'Joubert syndrome 2', 'Pulmonary venoocclusive disease 2', 'Periventricular nodular heterotopia 8', 'Episodic pain syndrome, familial, 3', 'Migraine, familial hemiplegic, 1', 'Giacheti syndrome', 'Cortisone reductase deficiency 1', 'Retinitis pigmentosa 86', 'Retinitis pigmentosa 31', 'Spinal muscular atrophy, Ryukyuan type', 'Night blindness, congenital stationary, type 1D', 'Suprabulbar paresis, congenital', 'Encephalopathy due to defective mitochondrial and peroxisomal fission 2', 'Papillon-Lefevre syndrome', 'Arthrogryposis, distal, type 11', 'Deafness, autosomal recessive 79', 'Aural atresia, congenital', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10', 'Myasthenic syndrome, congenital, with tubular aggregates 1', 'Chromosome 22q11.2 duplication syndrome', 'Alzheimer disease 3', 'Agenesis of the corpus callosum with peripheral neuropathy', 'Contractures, pterygia, and variable skeletal fusions syndrome 1B', 'Pontocerebellar hypoplasia, type 3', 'Spastic paraplegia 28, autosomal recessive', 'Brachydactyly-Nystagmus-Cerebellar ataxia', 'Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7', 'Atonic-Astatic syndrome of foerster', 'Nephrotic syndrome, type 23', 'Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive', 'Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements', 'Ohdo syndrome', 'Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2', 'Seizures, early-onset, with neurodegeneration and brain calcification', 'Coffin-Siris syndrome 12', 'Rolandic epilepsy, mental retardation, and speech dyspraxia', 'Myasthenia, limb-girdle, familial', 'Trigonocephaly 2', 'Parkinson disease 11', 'Corneal dystrophy, posterior polymorphous, 3', 'Epilepsy, idiopathic generalized', 'Myasthenic syndrome, congenital, 14', 'Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy', 'Muscular hypertonia, lethal', 'Stromme syndrome', 'Coffin-Siris syndrome 11', 'Aniridia', 'Red skin pigment anomaly of new guinea', 'Osteogenesis imperfecta, type XIX', 'Cone-rod dystrophy and hearing loss 2', 'Ciliary dyskinesia, primary, 40', 'Meesmann corneal dystrophy 2', 'ALACRIMA', 'Seckel syndrome 1', 'Polymyoclonus, infantile', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13', 'Poland syndrome', 'Facial paresis, hereditary congenital, 2', 'Preaxial deficiency, postaxial polydactyly, and hypospadias', 'Epileptic encephalopathy, early infantile, 72', 'Agnathia-Otocephaly complex', 'Tatton-Brown-Rahman syndrome', 'Acrokeratoderma, hereditary papulotranslucent', 'Orbital margin, hypoplasia of', 'Wolfram-Like syndrome, autosomal dominant', 'Glycosylphosphatidylinositol biosynthesis defect 16', 'Charcot-Marie-Tooth disease, dominant intermediate F', 'Ciliary dyskinesia, primary, 48, without situs inversus', 'Bor-Duane hydrocephalus contiguous gene syndrome', 'Phelan-Mcdermid syndrome', 'Spondylometaphyseal dysplasia, Kozlowski type', 'Dystonia 17, torsion, autosomal recessive', 'Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A', 'Kleine-Levin hibernation syndrome', 'Familial adenomatous polyposis 3', 'Alpha-Thalassemia/mental retardation syndrome, X-linked', 'Mental retardation, autosomal dominant 4', 'Peripheral motor neuropathy, childhood-onset, biotin-responsive', 'Andersen cardiodysrhythmic periodic paralysis', 'Hydrolethalus syndrome 2', 'Tooth agenesis, selective, 10', 'Lambotte syndrome', 'Amelogenesis imperfecta, hypomaturation type, iia2', 'Episodic kinesigenic dyskinesia 2', 'Mucus inspissation of respiratory tract', 'Holzgreve syndrome', '3MC syndrome 1', 'Van den bosch syndrome', 'Spondyloepimetaphyseal dysplasia, Irapa type', 'Coloboma of macula with type B brachydactyly', 'Developmental delay with variable intellectual impairment and behavioral abnormalities', 'Myopathy, myosin storage, autosomal dominant', 'Epilepsy, nocturnal frontal lobe, 2', 'Epilepsy, idiopathic generalized, susceptibility to, 12', 'Cerebral palsy, spastic quadriplegic, 3', 'Amelogenesis imperfecta, type IV', 'Colorectal cancer', 'Encephalitis/encephalopathy, mild, with reversible myelin vacuolization', 'Hypotrichosis-lymphedema-telangiectasia syndrome', 'Mental retardation, autosomal recessive 51', 'Amyotrophy, hereditary neuralgic', 'Amelogenesis imperfecta, type IIIC', 'Haim-Munk syndrome', 'Meckel syndrome, type 9', 'Hydrolethalus syndrome 1', 'Chromosome 17q11.2 deletion syndrome, 1.4-mb', 'Ophthalmoplegia, external, with rib and vertebral anomalies', 'Cervical hypertrichosis with underlying kyphoscoliosis', 'Parkinson disease 5, susceptibility to', 'Tremor, hereditary essential, 6', 'Xeroderma pigmentosum, complementation group E', 'Glioma susceptibility 1', 'Chromosome 2q31.1 duplication syndrome', 'Specific language impairment 5', 'Nail disorder, nonsyndromic congenital, 6', 'Seizures, cortical blindness, and microcephaly syndrome', 'Congenital cataracts, facial dysmorphism, and neuropathy', 'Developmental and epileptic encephalopathy 18', 'Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection', 'Speech-language disorder-1', 'Dementia, lewy body', 'Pruritus, hereditary localized', 'Atresia of external auditory canal and conduction deafness', 'Short-Rib thoracic dysplasia 16 with or without polydactyly', 'Myasthenic syndrome, congenital, 23, presynaptic', 'Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis', 'You-Hoover-Fong syndrome', 'Mitochondrial complex I deficiency, nuclear type 21', 'Usher syndrome, type IG', 'Microcephaly 25, primary, autosomal recessive', 'Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate', 'Syndactyly, type V', 'Erythrokeratodermia veriabilis et progressiva 6', 'Charcot-Marie-Tooth disease, dominant intermediate C', 'Short-Rib thoracic dysplasia 14 with polydactyly', 'Short-Rib thoracic dysplasia 19 with or without polydactyly', 'Townes-Brocks syndrome 1', 'Cataract-Ataxia-Deafness-Retardation syndrome', 'Neuropathy, hereditary sensory, type ID', 'Neuromuscular disease and ocular or auditory anomalies with or without seizures', 'Coffin-siris syndrome 6', 'Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay', 'Retinitis pigmentosa 74', 'Neural tube defects, susceptibility to', 'Brachydactyly, preaxial, with hallux varus and thumb abduction', 'Mitochondrial complex IV deficiency, nuclear type 17', 'Actinic prurigo', 'Ovarian dysgenesis 7', 'Mosaic variegated aneuploidy syndrome 3', 'Arthrogryposis, distal, type 2B3', 'Spasticity, childhood-onset, with hyperglycinemia', 'Lactate dehydrogenase B deficiency', 'Arthrogryposis, distal, type 2E', 'Synostoses, tarsal, carpal, and digital', 'Lethal congenital contracture syndrome 6', 'Aniridia and absent patella', 'Peroxisome biogenesis disorder 9B', 'Ceroid lipofuscinosis, neuronal, 8', 'Seborrhea-Like dermatitis with psoriasiform elements', 'Renal cell carcinoma, papillary, 1, familial and somatic', 'Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency', 'BETA-THALASSEMIA', 'ALPHA-THALASSEMIA', 'Granulomatosis with polyangiitis', 'Epilepsy, familial temporal lobe, 6', 'Keratosis follicularis, dwarfism, and cerebral atrophy', 'Mental retardation, autosomal recessive 52', 'Radioulnar synostosis, unilateral, with developmental retardationand hypotonia', 'Mucoepithelial dysplasia, hereditary', 'Erythrokeratodermia variabilis et progressiva 4', 'Urocanase deficiency', 'Striatal degeneration, autosomal dominant 2', 'Jaberi-Elahi syndrome', 'Retinitis pigmentosa 76', 'Friedreich ataxia, so-called, with optic atrophy and sensorineuraldeafness', 'TRACHEOBRONCHOMEGALY', 'Autism, susceptibility to, 20', 'Oculodentodigital dysplasia, autosomal recessive', 'Brown-Vialetto-Van laere syndrome 2', 'Brachydactyly, type B1', 'Blepharophimosis with facial and genital anomalies and mental retardation', 'Epilepsy, idiopathic generalized, 10', 'Otosclerosis 3', 'Melanoma, cutaneous malignant, susceptibility to, 10', 'Bladder cancer', 'Mental retardation, autosomal recessive 47', 'Spastic paraplegia and psychomotor retardation with or without seizures', 'Deafness, autosomal recessive 1A', 'Macular degeneration, age-related, 4', 'Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency', 'Alzheimer disease 9, susceptibility to', 'Baker-Gordon syndrome', 'Orofaciodigital syndrome IV', 'Anauxetic dysplasia 2', 'Brooke-Spiegler syndrome', 'Noduli cutanei, multiple, with urinary tract abnormalities', 'Nasal bones, absence of', 'Iris pigment layer, cleavage of', 'Galloway-Mowat syndrome 10', 'Vestibulocochlear dysfunction, progressive', 'Ackerman syndrome', 'Fibrosis of extraocular muscles, congenital, 5', 'Steatocystoma multiplex with natal teeth', 'Leber congenital amaurosis 11', 'Fleck retina, familial benign', 'Anonychia with flexural pigmentation', 'Corneal dystrophy, Fuchs endothelial, 4', 'Retinitis pigmentosa 48', 'Doyne honeycomb retinal dystrophy', 'Usher syndrome, type ID', 'Cataract, autosomal dominant, multiple types 1', 'Microphthalmia, isolated, with corectopia', 'Auditory neuropathy, autosomal dominant 3', 'Deafness, autosomal dominant nonsyndromic sensorineural 2', 'Deafness, autosomal dominant nonsyndromic sensorineural 11', 'Nail disorder, nonsyndromic congenital, 7', 'Deafness, autosomal dominant 36', 'Deafness, autosomal recessive 29', 'Ichthyosis, lamellar, autosomal dominant', 'Deafness, autosomal recessive 74', 'Deafness, autosomal recessive 12', 'Duane retraction syndrome 2', 'Deafness, autosomal dominant 74', 'Deafness, autosomal dominant 81', 'Deafness, autosomal dominant 71', 'Deafness, autosomal recessive 110', 'Retinitis pigmentosa 85', 'Leber congenital amaurosis 12', 'Pachyonychia congenita 4', 'Cataract 19, multiple types', 'Cataract 7', 'Deafness, autosomal dominant 51', 'Deafness, autosomal dominant 89', 'Microphthalmia with coloboma 3', 'Stargardt disease 4', 'Aniridia, microcornea, and spontaneously reabsorbed cataract', 'Cataract 44', 'Glucocorticoid deficiency 5', 'Deafness, autosomal dominant nonsyndromic sensorineural 49', 'Deafness, mid-tone neural', 'Disordered steroidogenesis due to cytochrome P450 oxidoreductase', 'Hypogonadism, primary, and partial alopecia', 'Myopia 17', 'Corneal dystrophy, fuchs endothelial, 8', 'Aplasia cutis congenita, high myopia, and cone-rod dysfunction', 'Hydatidiform mole, recurrent, 3', 'Myopia 25, autosomal dominant', 'Retinal dystrophy, reticular pigmentary, of posterior pole', 'Premature ovarian failure 12', 'Hydatidiform mole, recurrent, 1', 'Thyroid hormone resistance, selective pituitary', 'Spermatogenic failure 12', 'Frontonasal dysplasia with alar clefts', 'Cataract, congenital total, with posterior sutural opacities in heterozygotes', 'Macular dystrophy, concentric annular', 'Ankyloblepharon filiforme adnatum and cleft palate', 'Usher syndrome, type IC', 'Perrault syndrome 2', 'Keratosis palmoplantaris striata II', 'Palmoplantar keratoderma, epidermolytic, 2', 'Deafness, autosomal recessive 89', 'Deafness, autosomal recessive 84B', 'Occult macular dystrophy', 'Cataract, congenital, Volkmann type', 'Corneal dystrophy, lattice type I', 'Hypotrichosis 10', 'Pupillary membrane, persistence of', 'Cataract 23', 'Thyroid cancer, nonmedullary, 1', 'Deafness, autosomal dominant 73', 'Deafness, autosomal recessive 8/10', 'Deafness, autosomal dominant 66', 'Deafness, neurosensory, autosomal recessive 42', 'Senior-Loken syndrome 5', 'Deafness-Oligodontia syndrome', 'Dyschromatosis universalis hereditaria 3', 'Stargardt disease 1', 'Advanced sleep phase syndrome, familial, 2', 'Choroidal dystrophy, central areolar 1', 'Cryptorchidism, unilateral or bilateral', 'Deafness, autosomal recessive 108', 'Deafness, autosomal dominant 6', 'Deafness, autosomal dominant 20', 'Rhabdoid tumor predisposition syndrome 2', 'Tooth agenesis, selective, 9', 'Myofibromatosis, infantile, 1', 'Cleft palate, X-linked', 'Mayer-Rokitansky-Kuster-Hauser syndrome', 'Cataract 31, multiple types', 'Nephronophthisis 9', 'Nephronophthisis 7', 'Oocyte/zygote/embryo maturation arrest 20', 'Oocyte/zygote/embryo maturation arrest 17', 'Premature ovarian failure 3', 'Orofacial cleft 1', 'Testes, rudimentary', 'Spermatogenic failure 36', 'Dental noneruption', 'CODAS syndrome', 'Keratoconus 1', 'Book syndrome', 'Nephrotic syndrome, type 13', 'Oocyte maturation defect 9', 'Cataract, autosomal recessive congenital 2', 'Vas deferens, congenital bilateral aplasia of', 'Spermatogenic failure 61', 'Spermatogenic failure 62', 'Spermatogenic failure 44', 'Spermatogenic failure 6', 'Oocyte maturation defect 13', 'Spermatogenic failure 8', 'Spermatogenic failure 23', 'Spermatogenic failure 4', 'Spermatogenic failure, Y-linked, 2', 'Spermatogenic failure 52', 'Spermatogenic failure 55', 'Spermatogenic failure, Y-linked, 1', 'Spermatogenic failure 3', 'Spermatogenic failure 69', 'Spermatogenic failure 66', 'Spermatogenic failure 67', 'Spermatogenic failure 9', 'Spermatogenic failure 26', 'Breast-Ovarian cancer, familial, susceptibility to, 2', 'Deafness, autosomal recessive 111', 'Deafness, autosomal dominant 70', 'Oocyte maturation defect', 'Oocyte maturation defect 5', 'Oocyte/zygote/embryo maturation arrest 14', 'Oocyte maturation defect 4', 'Tooth agenesis, selective, 4', 'Epilepsy, familial temporal lobe, 2', 'Parietal foramina', 'Brachydactyly, coloboma, and anterior segment dysgenesis', 'Pseudohermaphroditism, female, with skeletal anomalies', 'Spastic paraparesis and deafness', 'Mirror movements 1 and/or agenesis of the corpus callosum', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2', 'Intellectual developmental disorder, autosomal dominant 64', 'Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis', 'Developmental and epileptic encephalopathy 104', 'Adrenal hypoplasia, congenital', 'Premature ovarian failure 1', 'Symphalangism, distal', 'Ceroid lipofuscinosis, neuronal, 3', 'Periodontitis, aggressive, 1', 'Craniotelencephalic dysplasia', 'Microangiopathy and leukoencephalopathy, pontine, autosomal dominant', 'Epileptic encephalopathy, early infantile, 83', 'Dyggve-Melchior-Clausen disease', 'Fryns microphthalmia syndrome', 'Spinocerebellar degeneration with macular corneal dystrophy, congenitalcataracts, and myopia', 'Myasthenic syndrome, congenital, 6, presynaptic', 'Spondyloepimetaphyseal dysplasia, Aggrecan type', 'Brachydactyly, type A4', 'Corneal dystrophy of bowman layer, type II', 'Ovarian dysgenesis 5', 'Ocular motor apraxia', 'Multiple synostoses syndrome 2', 'Minicore myopathy with external ophthalmoplegia', '46,XX sex reversal 5', 'Dystonia 21', 'Neurodevelopmental disorder with hypotonia and gross motor and seech delay', 'Leri-Weill dyschondrosteosis', 'Craniotubular dysplasia, Ikegawa type', 'Intellectual developmental disorder, autosomal dominant 22', 'Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1', 'Stankiewicz-Isidor syndrome', 'Thanatophoric dysplasia, type II', 'Parkinson disease 21', 'Deafness, autosomal recessive 70', 'Chordoma, susceptibility to', 'Neurofibromatosis, type I', 'Keratoderma, palmoplantar, norrbotten Recessive type', 'Epilepsy, nocturnal frontal lobe, type 1', 'Postaxial oligodactyly, tetramelic', 'Pontocerebellar hypoplasia, type 10', 'Kohlschutter-Tonz syndrome-like', 'Spastic ataxia 1, autosomal dominant', 'Microcephaly 14, primary, autosomal recessive', 'Deafness, congenital, with total albinism', 'TELECANTHUS', 'Microphthalmia, isolated 2', 'Intellectual developmental disorder 62', 'Generalized epilepsy with febrile seizures plus, type 1', 'Chorea, childhood-onset, with psychomotor retardation', 'Short stature, developmental delay, and congenital heart defects', 'Deafness, autosomal recessive 84', 'Usher syndrome, type IJ', 'Usher syndrome, type IK', 'Mental retardation, autosomal dominant 36', 'Muscular dystrophy, limb-girdle, type 2H', 'Amelogenesis imperfecta, type IF', 'Retinitis pigmentosa 83', 'Amelogenesis imperfecta, type IH', 'Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis', 'Boomerang dysplasia', 'Renal hypodysplasia/aplasia 1', 'Supranuclear palsy, progressive atypical', 'Endove syndrome, Limb-Only type', 'Neuronopathy, distal hereditary motor, type IIA', 'Obsessive-Compulsive disorder 1', 'Omodysplasia 2', 'Dupuytren contracture 1', 'Atelosteogenesis, type I', 'Keratoconus posticus circumscriptus', 'External auditory canal, bilateral atresia of, with congenital verticaltalus', 'Dentinogenesis imperfecta, shields type III', 'Gastrointestinal defects and immunodeficiency syndrome 2', 'Leber hereditary optic neuropathy, autosomal recessive', 'Li-Campeau syndrome', 'Thyroid hormone metabolism, abnormal', 'Premature ovarian failure 11', 'Premature ovarian failure 16', 'Dentin dysplasia, type II', 'Crouzon syndrome with acanthosis nigricans', 'Midface hypoplasia, obesity, developmental delay, and neonatal hypotonia', 'Mental retardation, X-linked 12/35', 'Galloway-Mowat syndrome 9', 'Spinocerebellar ataxia, autosomal recessive 3', 'Apnea, obstructive sleep', 'Aniridia, partial, with unilateral renal agenesis and psychomotorretardation', 'Febrile seizures, familial, 2', 'Febrile seizures, familial, 1', 'Febrile seizures, familial, 6', 'Familial idiopathic steroid-resistant nephrotic syndrome', 'Retinitis pigmentosa with or without skeletal anomalies', 'Facial paresis, hereditary congenital, 1', 'Spinal muscular atrophy, type III', 'Perry syndrome', 'Mitochondrial complex I deficiency, nuclear type 27', 'Mental retardation, X-linked 14', 'Dyssegmental dysplasia, Rolland-Desbuquois type', 'Focal segmental glomerulosclerosis 10', 'Charcot-marie-tooth disease, axonal, type 2A2A', 'Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive', 'Meckel syndrome 13', 'Joubert syndrome 23', 'Splenogonadal fusion with limb defects and micrognathia', 'Mandibulofacial dysostosis, Guion-Almeida type', 'Spastic paraplegia 41, autosomal dominant', 'Perrault syndrome 3', 'Mirror movements 2', 'Retinitis pigmentosa 39', 'Leber congenital amaurosis 19', 'Retinitis pigmentosa 61', 'Retinitis pigmentosa 26', 'Chromosome 17q23.1-q23.2 deletion syndrome', 'Chromosome 1q21.1 deletion syndrome, 1.35-mb', 'Retinitis pigmentosa 36', 'Desmoid disease, hereditary', 'Neurodevelopmental disorder with cerebellar hypoplasia and spasticity', 'Cerebrocostomandibular syndrome', 'Microcephaly 9, primary, autosomal recessive', 'Griscelli syndrome, type 3', 'Ataxia with myoclonic epilepsy and presenile dementia', 'Usher syndrome, type IE', 'Multiple synostoses syndrome 3', 'Epileptic encephalopathy, early infantile, 41', 'Intellectual developmental disorder, autosomal dominant 48', 'Mucopolysaccharidosis type IX', 'Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure', 'Hyperprolinemia, type I', 'Ehlers-Danlos syndrome, musculocontractural type 1', 'Dyskinesia with orofacial involvement, autosomal recessive', 'Restless legs syndrome, susceptibility to, 1', 'Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy', 'Spinocerebellar ataxia 32', 'Myopathy, centronuclear, 2', 'Developmental and epileptic encephalopathy 103', 'Carpal tunnel syndrome 2', 'Seizures, benign familial infantile, 2', 'Helsmoortel-van der Aa syndrome', 'Alport syndrome 2, autosomal recessive', 'Deafness, autosomal recessive 18B', 'Band heterotopia', 'Spastic paraplegia 74, autosomal recessive', 'Charcot-Marie-Tooth disease, type 4B2', 'Parkinsonism-dystonia 3, childhood-onset', 'Joubert syndrome 25', 'Tremor, hereditary essential, 1', 'Aldosteronism, glucocorticoid-remediable', 'Ulnar hypoplasia with mental retardation', 'Developmental and epileptic encephalopathy 110', 'Epidermolysis bullosa with diaphragmatic hernia', 'Orofaciodigital syndrome X', 'Frias syndrome', 'Joubert syndrome 17', 'Spinocerebellar ataxia, autosomal recessive 32', 'Blepharonasofacial malformation syndrome', 'Seizures, benign familial infantile, 5', 'Dystonia 1, torsion, autosomal dominant', 'Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language', 'Cleft palate, deafness, and oligodontia', 'Fibrosis of extraocular muscles, congenital, 3B', 'Neurodevelopmental disorder with hypotonia and brain abnormalities', 'Kury-Isidor syndrome', 'Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia', 'Parietal foramina 2', 'Myopathy, tubular aggregate, 1', 'Congenital hypotonia, epilepsy, developmental delay, and digital anomalies', 'Epiphyseal dysplasia, multiple, 2', 'Chromosome 10q26 deletion syndrome', 'Kniest dysplasia', 'Hartsfield syndrome', 'Myotubular myopathy with abnormal genital development', 'Achromatopsia 4', 'Bullous dystrophy, hereditary Macular type', 'Glaucoma 3, primary congenital, D', 'Albinism, oculocutaneous, type V', 'Pierre Robin sequence with pectus excavatum and rib and scapular anomalies', 'Schizophrenia 15', 'Fryns syndrome', 'Microcephaly 3, primary, autosomal recessive', 'Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities', 'Neuropathy, hereditary sensory and autonomic, type VIII', 'Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)', 'Ovarian dysgenesis 3', 'Young syndrome', 'Atelosteogenesis, type III', 'Ciliary dyskinesia, primary, 39', 'Amelogenesis imperfecta, type IC', 'Cortical dysplasia, complex, with other brain malformations 4', 'Epilepsy, juvenile absence', 'Congenital contractures of the limbs and face, hypotonia, and developmental delay', 'Intellectual developmental disorder, autosomal recessive 14', 'Complement factor I deficiency', 'Mitochondrial complex V (atp synthase) deficiency, nuclear type 4', '3-methylglutaconic aciduria, type III', 'Hydrocephalus, congenital, 3, with brain anomalies', 'Respiratory papillomatosis, juvenile recurrent, congenital', 'Ferguson-Bonni neurodevelopmental syndrome', 'Amelogenesis imperfecta, type IJ', 'Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures', 'Laurin-Sandrow syndrome', 'Cerebellar atrophy, developmental delay, and seizures', 'Fetal akinesia deformation sequence', 'Schizophrenia', 'Spastic paraplegia 31, autosomal dominant', 'Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6', 'Arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum', 'Deafness, autosomal recessive 9', 'Spinocerebellar ataxia, autosomal recessive 26', 'Bardet-Biedl syndrome 21', 'Epilepsy, hot water, 1', 'Intellectual developmental disorder 61', 'Syndactyly, mesoaxial synostotic, with phalangeal reduction', 'Corneal dystrophy, Reis-Bucklers type', 'Charcot-Marie-Tooth disease, recessive intermediate A', 'Lethal congenital contracture syndrome 11', 'Candidiasis, familial, 9', 'Spastic quadriplegia, retinitis pigmentosa, and mental retardation', 'Spastic paraplegia 14, autosomal recessive', 'Pellagra-Like syndrome', 'Klippel-Feil syndrome, autosomal recessive', 'Spinocerebellar ataxia, autosomal recessive 33', 'Generalized epilepsy with febrile seizures plus, type 7', 'Piebald trait with neurologic defects', 'Myopathy, centronuclear, autosomal dominant', 'Kleefstra syndrome 2', 'Psoriasis 2', 'Chilblain lupus 2', 'Ichthyosis, congenital, autosomal recessive 7', 'Humeroradial synostosishumeroradial/multiple synostosis syndrome', 'Gyrate atrophy of choroid and retina with or without ornithinemia', 'Weiss-Kruszka syndrome', 'Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation', 'Arthrogryposis, congenital, lower limb, X-linked', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7', 'Heart and brain malformation syndrome', 'Microcephaly, short stature, and limb abnormalities', 'Sifrim-Hitz-Weiss syndrome', 'Al Kaissi syndrome', 'Acromegaloid facial appearance syndrome', 'Charcot-Marie-Tooth disease, type 4D', 'Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation', 'Narcolepsy 3', 'Spinocerebellar ataxia, autosomal recessive 31', 'Ichthyosis, congenital, autosomal recessive 14', 'Behr syndrome', 'Ichthyosis, congenital, autosomal recessive 8', 'Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia', 'Macular degeneration, age-related, 1', 'Premature ovarian failure 20', 'Premature ovarian failure 14', 'Myopathy, congenital, with tremor', 'Neuropathy, congenital hypomyelinating, 3', 'Charcot-Marie-Tooth disease, axonal, type 2A2B', 'Generalized epilepsy with febrile seizures plus, type 10', 'Neuropathy, hereditary, with liability to pressure palsies', 'Usher syndrome, type 1M', 'Humerofemoral hypoplasia with radiotibial ray deficiency', 'Pachygyria, frontotemporal', 'Aase-Smith syndrome I', 'Tylosis with esophageal cancer', 'Osteopathia striata with cranial sclerosis', 'Split-Hand/foot malformation with long bone deficiency 1', 'Rubinstein-Taybi syndrome 2', 'Acrocapitofemoral dysplasia', 'Immunodeficiency 31A', 'Orofaciodigital syndrome V', 'Choreoathetosis, familial inverted', 'Pontocerebellar hypoplasia, type 16', 'Joubert syndrome 16', 'Leukodystrophy and acquired microcephaly with or without dystonia', 'Frasier syndrome', 'Aicardi-Goutieres syndrome 8', 'Nemaline myopathy 9', 'Myoclonic epilepsy, juvenile, susceptibility to, 1', 'Rhizomelic limb shortening with dysmorphic features', 'Cleft palate, isolated', 'Ciliary dyskinesia, primary, 37', 'Atelosteogenesis, type II', 'Spastic paraplegia 39, autosomal recessive', 'Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension', 'Epilepsy, familial focal, with variable foci', 'Spinocerebellar ataxia 41', 'Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive', 'Branchial myoclonus with spastic paraparesis and cerebellar ataxia', 'Charcot-Marie-Tooth disease, axonal, type 2S', 'Ehlers-Danlos syndrome, classic type, 2', 'Nephrotic syndrome, type 20', 'Dyskinesia, familial, with facial myokymia', 'Fibular hypoplasia and complex brachydactyly', 'Meniere disease', 'Ichthyosis, spastic quadriplegia, and mental retardation', 'Chorea, remitting, with nystagmus and cataract', 'Tooth malformation', 'Intellectual developmental disorder, autosomal dominant 67', 'Ovarian cancer', 'Hypoparathyroidism, sensorineural deafness, and renal dysplasia', 'Retinitis pigmentosa 90', 'Lung cancer, susceptibility to', 'Retinitis pigmentosa 77', 'Thyroid cancer, nonmedullary, 2', 'Horner syndrome, congenital', 'Intellectual developmental disorder, autosomal recessive 54', 'Ophthalmomandibulomelic dysplasia', 'Epilepsy, progressive myoclonic 1B', 'Arthrogryposis, distal, type 2B2', 'Spinal muscular atrophy, distal, autosomal recessive, 3', 'Clark-Baraitser syndrome', 'Neurodevelopmental disorder with involuntary movements', 'Levator-Medial rectus synkinesis', 'Multiple self-healing squamous epithelioma', 'Cleft larynx, posteriorstridor, congenital, included', 'Spastic paraplegia 64, autosomal recessive', 'Charge-Like syndrome, X-linked', 'Ciliary dyskinesia, primary, 6', 'Deafness, autosomal recessive 35', 'Sebaceous gland hyperplasia, familial presenile', 'Microphthalmia, isolated, with coloboma 4', 'Microphthalmia, isolated 1', 'Ophthalmoplegia, familial static', 'Cryptophthalmos, unilateral or bilateral, isolated', 'Oculomotor-abducens synkinesis', 'Keratosis palmoplantaris striata III', 'Intellectual developmental disorder, autosomal dominant, FRA12A type', 'Retinitis pigmentosa 63', 'Myopia 23, autosomal recessive', 'Reticular dystrophy of retinal pigment epithelium', 'Retinitis pigmentosa 35', 'Cavitary optic disc anomalies', 'Bothnia retinal dystrophy', 'Blepharoptosis, myopia, and ectopia lentis', 'Deafness, autosomal dominant 4B', 'Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included', 'Deafness, autosomal recessive 101', 'TRITANOPIA', 'Ichthyosis hystrix gravior', 'Retinopathy, pericentral pigmentary, autosomal recessive', 'Epidermolysis bullosa, junctional 2A, intermediate', 'Spastic paraplegia, optic atrophy, and dementia', 'Deafness, autosomal dominant 50', 'Mammary-Digital-Nail syndrome', 'Glaucoma-Related pigment dispersion syndrome', 'Cataract, posterior polar, 1 ctpa cataract, congenital total, included', 'Branchiootic syndrome 2', 'Renal, genital, and middle ear anomalies', 'Deafness, autosomal dominant 77', 'Erythrokeratodermia variabilis et progressiva 7', 'Epidermolysis bullosa dystrophica neurotrophica', 'CHANDS', 'Sveinsson chorioretinal atrophy', 'Odontomicronychial dysplasia', 'Glaucoma 1, open angle, F', 'Deafness, neurosensory, autosomal recessive 2', 'Hemifacial hyperplasia with strabismus', 'Auditory neuropathy, autosomal dominant 2', 'Deafness, autosomal dominant 72', 'Porokeratosis 3, multiple types', 'Deafness, autosomal recessive 103', 'Deafness, autosomal dominant 87', 'Deafness, autosomal dominant 41', 'Glaucoma 1, open angle, P', 'Woolly hair, hypotrichosis, everted lower lip, and outstanding ears', 'Deafness, autosomal dominant 65', 'Deafness, autosomal recessive 118, with cochlear aplasia', 'Deafness, autosomal dominant 56', 'Deafness, neurosensory, autosomal recessive 7', 'Focal facial dermal dysplasia 1, Brauer type', 'Myopia 28, autosomal recessive', 'Dilution, pigmentary', 'Corneal endothelial dystrophy, autosomal recessive', '46,xy sex reversal 8', 'Keratoconus 9', 'Rutherfurd syndrome', 'Microphthalmia, isolated 3', 'Porokeratosis 8, disseminated superficial Actinic type', 'Reticulate acropigmentation of Kitamura', 'Peeling skin syndrome 5', 'Uncombable hair syndrome 1', 'Uncombable hair syndrome 2', 'LARYNGOMALACIA', 'Ectopia lentis, familial', 'Deafness and myopia', 'Palmoplantar keratoderma, nonepidermolytic, focal or diffuse', 'Microphthalmia, isolated, with coloboma 7', 'Deafness, autosomal dominant 23', 'Melanoma, cutaneous malignant, susceptibility to, 3', 'Ectodermal dysplasia 5, Hair/nail type', 'Porokeratosis 1, multiple types', 'Epidermolysis bullosa simplex 2C, localized', 'Extraoral halitosis due to MTO deficiency', 'Ciliary dyskinesia, primary, 44', 'Premature ovarian failure 19', 'Porokeratosis 9, multiple types', 'Cataract 3, multiple types', 'Cataract, multiple types', 'Dowling-Degos disease 2', 'Spermatogenic failure 11', 'Cataract 15, multiple types', 'Glaucoma 3, primary congenital, A', 'Deafness, autosomal dominant 83', 'Spermatogenic failure 71', 'Spermatogenic failure 32', 'Cataract 30, multiple types', 'Spermatogenic failure 50', 'Nephrotic syndrome, type 21', 'Episodic kinesigenic dyskinesia 3', 'Spermatogenic failure 60', 'Spermatogenic failure 74', 'Spermatogenic failure 59', 'Spermatogenic failure 73', 'Spermatogenic failure 1', 'Vas deferens, congenital bilateral aplasia of, X-linked', 'Spermatogenic failure 22', 'Spermatogenic failure 21', 'Spermatogenic failure 16', 'Male infertility with large-headed, multiflagellar, polyploid spermatozoa', 'Spermatogenic failure 29', 'Cowden-Like syndrome', 'Deafness, autosomal recessive 76', 'Bainbridge-Ropers syndrome', 'Keratosis, focal palmoplantar and gingival', 'Wilms tumor 6', 'Joubert syndrome 40', 'Synpolydactyly 1', 'Nabais Sa-de Vries syndrome, type 1', 'Amelogenesis imperfecta, type IIA5', 'Spastic paraplegia 20, autosomal recessive', 'Membranous cranial ossification, delayed', 'Spondyloepiphyseal dysplasia tarda with characteristic facies', 'Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure', 'Parkinson disease 24, autosomal dominant, susceptibility to', 'Mental retardation, autosomal dominant 42', 'Chiari malformation type I', 'Paragangliomas 2', 'Chromosome 3q29 duplication syndrome', 'Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis', 'Mental retardation, X-linked 41', 'Supranuclear palsy, progressive, 2', 'Amelogenesis imperfecta, type IA', 'Epilepsy, familial temporal lobe, 4', 'Developmental delay with short stature, dysmorphic facial features, and sparse hair 2', 'Epilepsy, progressive myoclonic 3, with or without intracellular inclusions', 'Leopard syndrome 2', 'Spinocerebellar ataxia 45', 'Myasthenic syndrome, congenital, 15', 'Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations', 'Ichthyosis with alopecia, eclabion, ectropion, and mental retardation', 'Neutropenia, severe congenital, X-linked', 'Thyroid hormonogenesis, genetic defect in, 3', 'Sweeney-Cox syndrome', 'Aromatase deficiency', 'Arthrogryposis, distal, type 10', 'Deafness, autosomal recessive 119', 'Kleefstra syndrome', 'Acne inversa, familial, 2, with or without dowling-degos disease', 'Microcephaly, seizures, and developmental delay', 'Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4', 'Chromosome 17p13.3, telomeric, duplication syndrome', 'Rhizomelic chondrodysplasia punctata, type 5', 'Oculogastrointestinal neurodevelopmental syndrome', 'Charcot-Marie-Tooth disease, type 4B3', 'Dystonia 16', 'Cerebral palsy, ataxic, autosomal recessive', 'Optic atrophy, hearing loss, and peripheral neuropathy, autosomaldominant', 'Charcot-Marie-Tooth disease, axonal, type 2B2', 'Epilepsy, childhood absence, susceptibility to, 1', 'Colorectal cancer, hereditary nonpolyposis, type 8', 'Ciliary dyskinesia, primary, 41', 'Hypogonadism-Cataract syndrome', 'Febrile seizures, familial, 4', 'Febrile seizures, familial, 5', 'Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies', 'Spermatogenic failure 75', 'Retinal dystrophy with or without macular staphyloma', 'Charcot-Marie-Tooth disease, axonal, type 2U', 'Dyssegmental dysplasia, Silverman-Handmaker type', 'Intellectual developmental disorder, autosomal dominant 63, with macrocephaly', 'Schizophrenia 1', 'Retinitis pigmentosa 54', 'Retinitis pigmentosa 20', 'Retinitis pigmentosa 33', 'Retinitis pigmentosa 30', 'Retinitis pigmentosa 49', 'Retinitis pigmentosa 81', 'Retinitis pigmentosa 40', 'Optic atrophy with negative electroretinograms', 'Acromesomelic dysplasia, Maroteaux type', 'Schuurs-Hoeijmakers syndrome', 'Dystonia 12', 'Parkinsonism-Dystonia, infantile, 2', 'Palmoplantar carcinoma, multiple self-healing', 'Kahrizi syndrome', 'Spinocerebellar ataxia 38', 'Seizures, benign familial neonatal, 1', 'Split-Hand with congenital nystagmus, fundal changes, and cataracts', 'Intellectual developmental disorder with short stature and behavioral abnormalities', 'Spastic paraplegia 24, autosomal recessive', 'Mast syndrome', 'Hyperekplexia 4', 'Ectodermal dysplasia-syndactyly syndrome 2', 'Shaheen syndrome', 'Cornelia de Lange syndrome 4', 'Schizophrenia 10', 'Spastic paraplegia 42, autosomal dominant', 'Intellectual developmental disorder, autosomal recessive 69', 'Epilepsy idiopathic generalized, susceptibility to, 8', 'Multiple endocrine neoplasia, type IV', 'Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant', 'Tukel syndrome', 'Pontocerebellar hypoplasia, type 8', 'Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities', 'Acheiropody', 'Schizophrenia 19', 'Fourth cranial nerve palsy, familial congenital', 'Neurodevelopmental disorder with visual defects and brain anomalies', 'Griscelli syndrome, type 1', 'Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis', 'Xeroderma pigmentosum, variant type', 'Microphthalmia, syndromic 6', 'Dystonia 13, torsion', 'Hypogonadotropic hypogonadism 14 with or without anosmia', 'Imagawa-Matsumoto syndrome', 'Developmental and epileptic encephalopathy 65', 'Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy', 'Intellectual developmental disorder, autosomal recessive 3', 'Parkinson disease 18', 'Noonan syndrome 13', 'Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities', 'Cortical malformations, occipital', 'Cortical dysplasia, complex, with other brain malformations 2', 'Intellectual disability-hypotonic facies syndrome, X-linked', 'Seckel syndrome 7', 'Neurodevelopmental disorder with microcephaly, hypotonia, and absent language', 'Basal ganglia calcification, idiopathic, 7, autosomal recessive', 'Global developmental delay with or without impaired intellectual development', 'Hyperostosis cranialis interna', 'Neuronopathy, distal hereditary motor, type IX', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8', 'Retinitis pigmentosa 17', 'Developmental delay, intellectual disability, obesity, and dysmorphic features', 'Cone-Rod dystrophy 17', 'Cone dystrophy 3', 'Parc syndrome', 'Alopecia-Contractures-Dwarfism mental retardation syndrome', 'Microphthalmia/coloboma and skeletal dysplasia syndrome', 'Neurodevelopmental disorder with cerebellar atrophy and with or without seizures', 'Amelogenesis imperfecta, hypomaturation type, iia1', 'Tibial muscular dystrophy, tardive', 'Neuropathy, hereditary sensory, type IE', 'Skeletal defects, genital hypoplasia, and mental retardation', 'Developmental and epileptic encephalopathy 91', 'Spinocerebellar ataxia 42', 'Glycine encephalopathy', 'Deafness, conductive, with ptosis and skeletal anomalies', 'C1q deficiency 3', 'Neurodevelopmental disorder and language delay with or without structural brain abnormalities', 'Weill-Marchesani syndrome 4', 'Arthrogryposis, mental retardation, and seizures', 'Cerebral sclerosis, diffuse, Scholz type', 'Chromosome 17Q12 duplication syndrome', 'Retinitis pigmentosa 14', 'Microphthalmia, isolated, with coloboma 6', 'Neurooculorenal syndrome', 'Episodic kinesigenic dyskinesia 1', 'Spastic paraplegia 63, autosomal recessive', 'Epidermolysis bullosa, junctional, with pyloric atresia', 'Encephalopathy, familial, with neuroserpin inclusion bodies', 'Cleft palate, proliferative retinopathy, and developmental delay', 'Cone-rod dystrophy 15', 'WAGRO syndrome', 'Mental retardation, autosomal dominant 39', 'Leber congenital amaurosis 6', 'Charcot-Marie-Tooth disease, demyelinating, type 1D', 'Bardet-Biedl syndrome 16', 'Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation', 'Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly', 'Spastic paraplegia 33, autosomal dominant', 'Spinocerebellar ataxia 7', 'Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies', 'Ciliary dyskinesia, primary, 18', 'Erythrokeratodermia variabilis et progressiva 3', 'Tetraamelia syndrome 2', 'Spinocerebellar ataxia, autosomal recessive 27', 'Seizures, benign familial infantile, 1', 'Mental retardation, X-linked, syndromic, Bain type', 'Usher syndrome, type IF', 'Macular degeneration, age-related, 13', '46,xy sex reversal 4', 'Huntington disease', 'Arboleda-Tham syndrome', 'Neurooculocardiogenitourinary syndrome', 'Ichthyosis, congenital, autosomal recessive 13', 'Brachymorphism-Onychodysplasia-Dysphalangism syndrome', 'Epiphyseal dysplasia, multiple, with myopia and conductive deafness', 'Charcot-Marie-Tooth disease, axonal, type 2B', 'Premature ovarian failure 9', 'Hartnup disorder', 'Ciliary dyskinesia, primary, 45', 'Mental retardation syndrome, Mietens-Weber type', 'Spastic paraplegia, sensorineural deafness, mental retardation, and', 'Systemic lupus erythematosus 16', 'Microphthalmia, syndromic 11', 'Multiple mitochondrial dysfunctions syndrome 4', 'Facial clefting, oblique, 1', 'Brachydactyly, type A1', 'Polydactyly, postaxial, type A6', 'Luscan-Lumish syndrome', 'Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5', 'Hypertelorism, microtia, facial clefting syndrome', 'Cardioacrofacial dysplasia 1', 'Cortical dysplasia, complex, with other brain malformations 5', 'Ritscher-Schinzel syndrome 3', 'Rett syndrome', 'Pterygia, mental retardation, and distinctive craniofacial features', 'Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome', 'Papillorenal syndrome', 'Epidermolysis bullosa, junctional 6, with pyloric atresia', 'Temtamy syndrome', 'Spondyloepiphyseal dysplasia congenita', 'Epileptic encephalopathy, early infantile, 71', 'Intellectual developmental disorder, autosomal dominant 23', 'Spinocerebellar ataxia 46', 'Spastic paraplegia 89, autosomal recessive', 'Poirier-Bienvenu neurodevelopmental syndrome', 'Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome', 'CDAGS syndrome', 'Axenfeld-rieger syndrome, type 2', 'Spondylometaepiphyseal dysplasia, short Limb-Hand type', 'Epilepsy, familial adult myoclonic, 5', 'Omodysplasia 1', 'Jackson-Weiss syndrome', 'Treacher Collins syndrome 3', 'Spinocerebellar ataxia with rigidity and peripheral neuropathy', 'Craniosynostosis 2', 'Chromosome 11P13 deletion syndrome, distal', 'Acromesomelic dysplasia, Hunter-Thompson type', 'Rippling muscle disease 1', 'Klippel-Feil syndrome 1, autosomal dominant', 'Mental retardation, microcephaly, growth retardation, joint contractures,and facial dysmorphism', 'Weyers acrofacial dysostosis', 'Absent eyebrows and eyelashes with mental retardation', 'Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development', 'Charcot-marie-tooth disease, recessive intermediate B', 'Holoprosencephaly 4', 'Congenital disorder of glycosylation, type Iw, autosomal dominant', 'Trichothiodystrophy 2, photosensitive', 'Kyphomelic dysplasia', 'Spinocerebellar ataxia, autosomal recessive 12', 'Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity', 'Pontocerebellar hypoplasia, type 12', 'Huriez syndrome', 'Trichodental dysplasia', 'Parkinson disease 17', 'Solitary median maxillary central incisor', 'Charcot-Marie-Tooth disease, dominant intermediate G', 'Joubert syndrome 31', 'Iridogoniodysgenesis, type 2', 'Ophthalmoplegia totalis with ptosis and miosis', 'Microphthalmia with hyperopia, retinal degeneration, macrophakia,and dental anomalies', 'Waardenburg syndrome, type IIB', 'Hypermanganesemia with dystonia 2', 'Ophthalmoplegia, familial total, with iris transillumination', 'Newfoundland rod-cone dystrophy', 'Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development', 'Intellectual developmental disorder with or without epilepsy or cerebellar ataxia', 'Duane retraction syndrome 3 with or without deafness', 'Cone-Rod dystrophy 8', 'Stickler sydrome, type I, nonsyndromic ocular', 'Usher syndrome, type IID', 'Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive', 'Cone-rod dystrophy 7', 'Tooth agenesis, selective, 8', 'Hypertelorism, preauricular sinus, punctal pits, and deafness', 'Retinitis pigmentosa 28', 'Night blindness, congenital stationary, type 1G', 'Corneal dystrophy, lattice type IIIA', 'Macular dystrophy, retinal, 3', 'Stargardt disease 3', 'Senior-Loken syndrome 6', 'Microphthalmia, isolated, with cataract 1', 'Bestrophinopathy, autosomal recessive', 'Corneal dystrophy, Avellino type', 'Deafness, autosomal dominant 86', 'Epidermolysis bullosa, junctional 3A, intermediate', 'Branchiootorenal syndrome 2', 'Pterygium colli, isolated', 'Dowling-Degos disease 4', 'Glaucoma, primary closed-angle', 'Bart-Pumphrey syndrome', 'Albinism, oculocutaneous, type III', 'Pachyonychia congenita, type 1', 'Groenouw type I corneal dystrophy', 'Retinitis pigmentosa 96, autosomal dominant', 'Deafness, autosomal recessive 37', 'Anterior segment dysgenesis 6, multiple subtypes', 'Retinal dystrophy and iris coloboma with or without congenital cataract', 'Ovarian dysgenesis 6', 'Deafness, autosomal dominant 64', 'Deafness, autosomal dominant 33', 'Retinitis pigmentosa inversa with deafness', 'Ectodermal dysplasia 6, Hair/nail type', 'Cataract 49', 'Hypotrichosis 11', 'Epidermolysis bullosa simplex, Weber-Cockayne type', 'Hypogonadism, malehypogonadism and testicular atrophy, included', 'Macular dystrophy, patterned, 3', 'Night blindness, congenital stationary, autosomal dominant 1', 'Uncombable hair syndrome 3', 'Trichothiodystrophy 7, nonphotosensitive', 'Palmoplantar keratoderma, punctate type IA', 'Cataract, lamellar', 'Hypothyroidism, congenital, nongoitrous, 1', 'Myopia 5', 'Thyroid hormonogenesis, genetic defect in, 2A', 'Cataract, congenital zonular, with sutural opacities', 'Deafness, autosomal recessive 4, with enlarged vestibular aqueduct', 'Deafness, autosomal recessive 32, with or without immotile sperm', 'Thyroid cancer, nonmedullary, 4', 'Retinitis pigmentosa 87 with choroidal involvement', 'Cataract 1, multiple types', 'Aplasia of lacrimal and salivary glands', 'Lower urinary tract obstruction, congenital', 'Deafness, autosomal dominant 84', 'Basal laminar drusen', 'Nephrotic syndrome, type 26', 'Deafness, autosomal dominant 80', 'Cataract 20, multiple types', 'Spermatogenic failure 10', 'Adrenal hypoplasia, congenital, with absent pituitary luteinizinghormone', 'Spermatogenic failure 81', 'Spermatogenic failure 47', 'Spermatogenic failure 41', 'Spermatogenic failure 45', 'Spermatogenic failure 43', 'Spermatogenic failure 48', 'Spermatogenic failure 78', 'Spermatogenic failure 70', 'Spermatogenic failure 64', 'Spermatogenic failure 79', 'Oocyte maturation defect 10', 'Spermatogenic failure 7', 'Spermatogenic failure 86', 'Spermatogenic failure 63', 'Spermatogenic failure 57', 'Spermatogenic failure 83', 'Spermatogenic failure 20', 'Focal segmental glomerulosclerosis 9', 'Spermatogenic failure 24', 'Jawad syndrome', 'Intellectual developmental disorder, autosomal recessive 78', 'Neurofibromatosis, familial spinal', 'Myasthenic syndrome, congenital, 8', 'Microcephalic primordial dwarfism, Montreal type', 'Robin sequence with cleft mandible and limb anomalies', 'Cortical dysplasia, complex, with other brain malformations 11', 'Spermatogenic failure, X-linked, 4', 'Febrile seizures, familial, 8', 'Premature ovarian failure 2B', 'Leukoencephalopathy, diffuse hereditary, with spheroids', 'Thumb, hypoplastic, with choroid coloboma, poorly developed antihelix,and deafness', 'Spinocerebellar ataxia 18', 'Gilles de la tourette syndrome', 'Parkinson disease 1, autosomal dominant', 'Spinal muscular atrophy, infantile, James type', 'Intellectual developmental disorder, autosomal dominant 69', 'Sabinas brittle hair syndrome', 'Deafness, conductive, with malformed external ear', 'Heimler syndrome 2', 'Short stature, optic nerve atrophy, and pelger-huet anomaly', 'Intellectual developmental disorder, autosomal recessive 63', 'Brachydactyly, type A2', 'Glycine encephalopathy with normal serum glycine', 'Histidinuria due to A renal tubular defect', 'Spongiform encephalopathy with neuropsychiatric features', 'Retinitis pigmentosa-50', 'Van bogaert-hozay syndrome', 'Retinopathy, pericentral pigmentary, dominant', 'Retinitis pigmentosa 46', 'Pick disease of brain', 'Pallister-Hall-like syndrome', 'Ulnar-Mammary syndrome', 'Intellectual developmental disorder, autosomal recessive 46', 'Mental retardation, autosomal dominant 31', '46,xy sex reversal 9', 'Candidiasis, familial, 8', 'Zaki syndrome', 'CEBALID syndrome', 'Spinocerebellar ataxia 4', 'Premature ovarian failure 15', 'Premature ovarian failure 13', 'Mental retardation syndrome, X-linked, Armfield type', 'Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures', 'Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities', 'Gabriele-De vries syndrome', 'Ciliary dyskinesia, primary, 17', 'Epileptic encephalopathy, early infantile, 63', 'Earlobes, thickened, with conductive deafness from incudostapedialabnormalities', 'Bosch-Boonstra-Schaaf optic atrophy syndrome', 'Nephropathy due to CFHR5 deficiency', 'Spastic paraplegia 8, autosomal dominant', 'Neurodevelopmental disorder with microcephaly, short stature, and speech delay', 'Cortical dysplasia, complex, with other brain malformations 6', 'Pseudotrisomy 13 syndrome', 'Optic atrophy 2', 'Symphalangism, distal, with microdontia, dental pulp stones, and narrowedzygomatic arch', 'Vitreoretinochoroidopathy', 'Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities', 'Generalized epilepsy with febrile seizures plus, type 4', 'Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3', 'Phosphoribosylpyrophosphate synthetase superactivity', 'Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties', 'Piebald trait', 'Chromosome 1p35 deletion syndrome', 'Episodic ataxia, type 8', 'Microphthalmia, syndromic 3', 'Mental retardation with optic atrophy, deafness, and seizures', 'Catel-Manzke syndrome', 'Arthrogryposis and ectodermal dysplasia', 'Spinocerebellar ataxia 30', 'Intellectual developmental disorder, autosomal dominant 56', 'Xeroderma pigmentosum, complementation group B', 'Ataxia, sensory, autosomal dominant', 'Stickler syndrome, type III', 'Symphalangism, proximal, 1A', 'Periventricular nodular heterotopia 6', 'Larsen syndrome', 'Cerebellar ataxia, Cayman type', 'Baller-Gerold syndrome', 'Epileptic encephalopathy, early infantile, 45', 'Intellectual developmental disorder with autism and speech delay', 'Dystonia, early-onset, and/or spastic paraplegia', 'Basel-Vanagaite-Smirin-Yosef syndrome', 'Dystonia 25', 'Mental retardation, X-linked 107', 'Ovarian dysgenesis 10', 'Joubert syndrome 20', 'Axenfeld-Rieger syndrome, type 3', 'Alkuraya-Kucinskas syndrome', 'Microcephaly, primary autosomal recessive, 6', 'Vertebral, cardiac, tracheoesophageal, renal, and limb defects', 'Pierre Robin sequence with facial and digital anomalies', 'Hypogonadotropic hypogonadism 5 with or without anosmia', 'Ovarian dysgenesis 9', 'Apert syndrome', 'Joubert syndrome 1', 'Spinocerebellar ataxia 19', 'Hypogonadotropic hypogonadism 13 with or without anosmia', 'Cornelia de Lange syndrome 5', 'Neurodevelopmental disorder with microcephaly and gray sclerae', 'Intellectual developmental disorder, autosomal recessive 2', 'Radial ray hypoplasia with choanal atresia', 'Neuronopathy, distal hereditary motor, type IIB', 'Intellectual developmental disorder, autosomal recessive 65', 'Martsolf syndrome 1', 'Opticocochleodentate degeneration', 'Acid-labile subunit, deficiency of', 'Charcot-Marie-Tooth disease, axonal, type 2W', 'Craniosynostosis 3', 'Chromosome 15q13.3 microdeletion syndrome', 'Microcephaly 7, primary, autosomal recessive', 'Retinitis pigmentosa 11', 'Trigonocephaly 1', 'Renal and mullerian duct hypoplasia', 'Microcephaly 5, primary, autosomal recessive', 'Bradyopsia 2', 'Amaurosis congenita, cone-rod type, with congenital hypertrichosis', 'Cone-rod dystrophy 21', 'Optic atrophy 6', 'Lissencephaly, X-linked, 1', 'Charcot-Marie-Tooth disease, axonal, type 2N', 'Optic atrophy 12', 'Meesmann corneal dystrophy 1', 'Alacrima, congenital', 'Neuropathy, congenital hypomyelinating, 2', 'Fetal akinesia syndrome, X-linked', 'Orofaciodigital syndrome XVI', 'Holoprosencephaly 14', 'Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure', 'Keratoendotheliitis fugax hereditaria', 'Intellectual developmental disorder, autosomal recessive 37', 'Joubert syndrome 36', 'Seizures, benign familial infantile, 3', 'Even-Plus syndrome', 'Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter', 'Neurodevelopmental disorder with infantile epileptic spasms', 'Spinocerebellar ataxia 31', 'Baralle-Macken syndrome', 'Alacrima, achalasia, and mental retardation syndrome', 'Cone-Rod dystrophy 10', 'Deafness, autosomal recessive 104', 'Coenzyme Q10 deficiency, primary, 6', 'Adams-Oliver syndrome 3', 'Coffin-Siris syndrome 2', 'Hypogonadotropic hypogonadism 6 with or without anosmia', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1', 'Charcot-Marie-Tooth disease, demyelinating, type 1G', 'Keratosis pilaris atrophicans', 'Auditory neuropathy, autosomal dominant, 1', 'Ichthyosis, annular epidermolytic 2', 'Myasthenic syndrome, congenital, 2A, slow-channel', 'Hypotrichosis 6', 'Spinal muscular atrophy, distal, autosomal recessive, 6', 'Epilepsy, familial temporal lobe, 8', 'Xeroderma pigmentosum, group C', 'Chorea, benign hereditary', 'Limb-Mammary syndrome', 'Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement', 'Syringomyelia, isolated', 'Acrofacial dysostosis, Catania type', 'Craniosynostosis 6', 'Spastic paraplegia, optic atrophy, and neuropathy', 'Craniosynostosis-Mental retardation-clefting syndrome', 'Spastic paraplegia 27, autosomal recessive', 'Mitochondrial complex III deficiency, nuclear type 2', 'Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant', 'Optic atrophy 16', 'Intellectual developmental disorder, autosomal recessive 77', 'Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech', 'Achalasia-Addisonianism-Alacrima syndrome', 'Encephalopathy, progressive, with amyotrophy and optic atrophy', 'Developmental delay with dysmorphic facies and dental anomalies', 'Spastic paraplegia 88, autosomal dominant', 'Bare lymphocyte syndrome, type I', 'Epileptic encephalopathy, early infantile, 3', 'Focal segmental glomerulosclerosis and neurodevelopmental syndrome', 'Spinocerebellar ataxia, autosomal recessive 8', 'Genitopatellar syndrome', 'Pontocerebellar hypoplasia, type 1F', 'Ciliary dyskinesia, primary, 29', 'Basal ganglia calcification, idiopathic, 1', 'Premature ovarian failure 17', 'Spermatogenic failure 28', 'Branchiooculofacial syndrome', 'Nephronophthisis 20', 'Otospondylomegaepiphyseal dysplasia', 'Leukodystrophy, hypomyelinating, 25', 'Dystonia 7, torsion', 'Peeling skin syndrome 6', 'Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome', 'Retinitis pigmentosa, deafness, mental retardation, and hypogonadism', 'Spastic paraplegia 11, autosomal recessive', 'Epidermolysis bullosa simplex with pyloric atresia', 'Warsaw breakage syndrome', 'Spastic paraplegia 56, autosomal recessive', 'Ciliary dyskinesia with defective radial spokes', 'Optic nerve hypoplasia', 'Burn-Mckeown syndrome', 'Structural brain anomalies with impaired intellectual development and craniosynostosis', 'Glass syndrome', 'Hypogonadotropic hypogonadism 10 with or without anosmia', 'Cardiofaciocutaneous syndrome 2', 'Congenital disorder of deglycosylation 2', 'Intellectual developmental disorder, autosomal dominant 6, with or without seizures', 'Ciliary dyskinesia, primary, 47, and lissencephaly', 'Coloboma of macula and skeletal anomalies', 'Myasthenic syndrome, congenital, 13, with tubular aggregates', 'Birdshot chorioretinopathy', 'Pulmonary alveolar microlithiasis', 'Xq25 duplication syndrome', 'Global developmental delay with speech and behavioral abnormalities', 'Microcephaly and chorioretinopathy, autosomal recessive, 3', 'Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type', 'Joubert syndrome 22', 'Parkinson disease 20, early-onset', 'Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome', 'Nemaline myopathy 5, Amish type', 'Charcot-Marie-Tooth disease, axonal, type 2Q', 'Spastic paraplegia 73, autosomal dominant', 'Ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliarydyskinesia', 'Macular degeneration, age-related, 3', 'Usmani-Riazuddin syndrome, autosomal recessive', 'Intellectual developmental disorder, autosomal dominant 13', 'Spastic paraplegia 62, autosomal recessive', 'Pontocerebellar hypoplasia, type 2D', 'Coloboma, ocular', 'Brunet-Wagner neurodevelopmental syndrome', 'Ciliary dyskinesia, primary, 3, with or without situs inversus', 'Chondrodysplasia with joint dislocations, Gpapp type', 'Epileptic encephalopathy, early infantile, 7', 'Ciliary dyskinesia, primary, 50', 'Acromesomelic dysplasia 2A', 'Bardet-Biedl syndrome 17', 'Neuropathy, congenital, with arthrogryposis multiplex', 'Epileptic encephalopathy, early infantile, 79', 'Melanoma, cutaneous malignant', 'Albinism-Deafness syndrome', 'Developmental and epileptic encephalopathy 12', 'Facial paresis, hereditary congenital, 3', 'Intellectual developmental disorder, autosomal dominant 53', 'Visual impairment and progressive phthisis bulbi', 'Developmental and epileptic encephalopathy 106', 'Microcoria, congenital', 'Aniridia 3', 'Cataract 42', 'Sorsby fundus dystrophy', 'Nizon-Isidor syndrome', 'Dystonia 9', 'Hypotrichosis 3', 'DERMOODONTODYSPLASIA', 'Night blindness, congenital stationary, type 1E', 'Surfactant metabolism dysfunction, pulmonary, 5', 'Chorioretinal atrophy, progressive bifocal', 'Macular dystrophy, vitelliform, 2', 'Ring dermoid of cornea', 'Nystagmus 2, congenital, autosomal dominant', 'Retinitis pigmentosa 47', 'Anterior segment dysgenesis 1', 'Retinitis pigmentosa 45', 'Macular dystrophy, vitelliform, 1', 'Hypomyelination with brainstem and spinal cord involvement and legspasticity', 'Leber congenital amaurosis-3 (LCA3)/Retinitis pigmentosa, juvenile, autosomal recessive', 'Nanophthalmos 4', 'Microtia with meatal atresia and conductive deafness', 'Palmoplantar keratoderma, nonepidermolytic, focal 1', 'Otosclerosis 7', 'Macular dystrophy, retinal, 4', 'Basaloid follicular hamartoma syndrome, generalized, autosomal dominant', 'Corneal dystrophy, posterior amorphous', 'Vohwinkel syndrome', 'Hypotrichosis, congenital, with juvenile macular dystrophy', 'Exudative vitreoretinopathy 3', 'Nystagmus 1, congenital, X-linked', 'Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1', 'Renal hypodysplasia/aplasia 2', 'Macular dystrophy, retinal, 1, north Carolina type', 'Snowflake vitreoretinal degeneration', 'Woolly hair, autosomal recessive 3', 'Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart', 'Corneal endothelial dystrophy and perceptive deafness', 'Deafness, autosomal dominant 82', 'Microphthalmia, isolated, with coloboma 10', 'Hypotrichosis 14', 'Mitochondrial complex I deficiency, nuclear type 12', 'Vohwinkel syndrome, variant form', 'Renal dysplasia, cystic, susceptibility to', 'Macular dystrophy, vitelliform, 4', 'Branchiootic syndrome 3', 'Menke-Hennekam syndrome 2', 'Xeroderma pigmentosum, complementation group D', 'Alopecia universalis congenita', 'van der Woude syndrome 1', 'Premature ovarian failure 5', 'Spermatogenic failure 30', 'Nephrotic syndrome, type 24', 'Spermatogenic failure 40', 'Spermatogenic failure, X-linked, 7', 'Spermatogenic failure 19', 'Spermatogenic failure 82', 'Spermatogenic failure 49', 'Spermatogenic failure 85', 'Spermatogenic failure 25', 'Spermatogenic failure 35', 'Cardioacrofacial dysplasia 2', 'Linear skin defects with multiple congenital anomalies 3', 'Segawa syndrome, autosomal recessive', 'Retinitis pigmentosa 75', 'Retinitis pigmentosa 84', 'Retinitis pigmentosa 95', 'Cone-Rod dystrophy 1', 'Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome', 'Rudiger syndrome', 'Intellectual developmental disorder with speech delay, autism, and dysmorphic facies', 'Hair defect with photosensitivity and mental retardation', 'Intellectual developmental disorder, autosomal recessive 13', 'Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies', 'Chromosome 15q11.2 deletion syndrome', 'Dentin dysplasia, type I, with microdontia and misshapen teeth', 'Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly', 'Neu-Laxova syndrome 1', 'Intellectual developmental disorder, autosomal dominant 40', 'Spinocerebellar ataxia, autosomal recessive 6', 'Epilepsy, juvenile myoclonic, susceptibility to, 10', 'Leukodystrophy, hypomyelinating, 5', 'Chromosome 19p13.13 deletion syndrome', 'Ciliary dyskinesia, primary, 13', 'Myopathy, congenital, with fiber-type disproportion, X-linked', 'Epileptic encephalopathy, early infantile, 34', 'Moebius syndrome', 'Spinocerebellar ataxia 36', 'Premature ovarian failure 21', 'Short stature, oligodontia, dysmorphic facies, and motor delay', 'Otoonychoperoneal syndrome', 'Charcot-Marie-Tooth disease and deafness', 'Retinitis pigmentosa 80', 'Bifid nose with or without anorectal and renal anomalies', 'Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1', 'Myoclonic-atonic epilepsy', 'Siddiqi syndrome', 'Epilepsy, nocturnal frontal lobe, 5', 'Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis', 'Alternating hemiplegia of childhood 1', 'Developmental delay and seizures with or without movement abnormalities', 'Nephrosis with deafness and urinary tract and digital malformations', 'Epilepsy, progressive myoclonic 7', 'Retinitis pigmentosa 13', 'Myopathy, congenital, progressive, with scoliosis', 'Narcolepsy 1', 'Spastic paraplegia 61, autosomal recessive', 'Epileptic encephalopathy, early infantile, 54', 'Mitochondrial complex IV deficiency, nuclear type 8', 'Macrocephaly/megalencephaly syndrome, autosomal recessive', 'Hepatocellular carcinoma', 'Retinitis pigmentosa 27', 'Macdermot-Winter syndrome', 'Usher syndrome, type IIIB', 'Short-Rib thoracic dysplasia 13 with or without polydactyly', 'Dystonia 27', 'Desbuquois dysplasia 2', 'Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism', 'Erythrokeratodermia variabilis et progressiva 5', 'Desanto-Shinawi syndrome', 'Postaxial acrofacial dysostosis', 'Lissencephaly 5', 'Cowden syndrome 1', 'Spinocerebellar ataxia, autosomal recessive 7', 'Spinal muscular atrophy, X-linked 2', 'Supranuclear palsy, progressive, 1', 'Spinocerebellar ataxia, autosomal recessive 24', 'Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures', 'Ehlers-Danlos syndrome, musculocontractural type, 2', 'Acromicric dysplasia', 'Witteveen-Kolk syndrome', 'Spinocerebellar ataxia 35', 'Spermatogenic failure 14', 'Developmental delay, impaired speech, and behavioral abnormalities', 'Robinow syndrome, autosomal dominant 3', 'Brachydactyly, type A1, D', 'Microphthalmia, syndromic 13', 'Cortical dysplasia, complex, with other brain malformations 1', 'Retinal dystrophy, juvenile cataracts, and short stature syndrome', 'Alopecia, neurologic defects, and endocrinopathy syndrome', 'Ceroid lipofuscinosis, neuronal, 10', 'Spastic paraplegia 84, autosomal recessive', 'Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism', 'Gaze palsy, familial horizontal, with progressive scoliosis, 2', 'Convulsions, familial infantile, with paroxysmal choreoathetosis', 'Tremor, hereditary essential, 5', 'Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy', 'Oligodontia-colorectal cancer syndrome', 'Epilepsy, progressive myoclonic, 11', 'NESCAV syndrome', 'Corneal dystrophy, gelatinous drop-like', 'Retinitis pigmentosa 32', 'Retinitis pigmentosa 25', 'Spastic paraplegia 77, autosomal recessive', 'Intellectual developmental disorder, autosomal recessive 74', 'Migraine, familial hemiplegic, 3', 'Cone-Rod synaptic disorder, congenital nonprogressive', 'Cone-rod dystrophy 13', 'Albinism, oculocutaneous, type IB', 'Retinal cone dystrophy 1', 'Albinism, oculocutaneous, type VI', 'Night blindness, congenital stationary, type 1H', 'Retinal cone dystrophy 4', 'Cone-Rod dystrophy 11', 'Ectodermal dysplasia with mental retardation and syndactyly', 'Epithelial recurrent erosion dystrophy', 'Craniofacial microsomia 2', 'Spastic paraplegia 53, autosomal recessive', 'Neuropathy, hereditary sensory and autonomic, type IA', 'Crouzon syndrome', 'Immunoglobulin A deficiency 2', 'Craniofacial abnormalities, cataracts, congenital heart disease, sacralneural tube defects, and growth and developmental retardation', 'Epilepsy, idiopathic generalized, susceptibility to, 14', 'Intellectual developmental disorder with short stature, facial anomalies, and speech defects', 'Kindler syndrome', 'Ovarian dysgenesis 2', 'Osteogenesis imperfecta, type XX', 'Heimler syndrome 1', 'Striatal degeneration, autosomal dominant', 'Intellectual developmental disorder, autosomal recessive 6', 'Brittle cornea syndrome', 'Epileptic encephalopathy, early infantile, 11', 'Spinocerebellar ataxia 27B, late-onset', 'Microcephaly 4, primary, autosomal recessive', 'Epilepsy, progressive myoclonic, 9', 'Hypogonadotropic hypogonadism 24 without anosmia', 'Epidermolysis bullosa simplex, autosomal recessive 2', 'De Sanctis-Cacchione syndrome', 'Baraitser-Winter syndrome 2', 'Optic atrophy 3, autosomal dominant', 'Sclerosteosis 1', 'Ichthyosis, congenital, autosomal recessive 10', 'Mental retardation, autosomal recessive 66', 'Ciliary dyskinesia, primary, 46', 'Steel syndrome', 'Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8', 'Stickler syndrome, type I', 'Spastic ataxia 7, autosomal dominant', 'Stickler syndrome, type V', 'Anencephaly 2', 'Leukoencephalopathy, hereditary diffuse, with spheroids 2', 'Premature ovarian failure 10', 'Premature ovarian failure 8', 'Developmental delay with short stature, dysmorphic features, and sparse hair', 'Culler-Jones syndrome', 'Craniometaphyseal dysplasia, autosomal recessive', 'Hypogonadotropic hypogonadism 25 with anosmia', 'Wernicke-Korsakoff syndrome', 'Nephropathy with pretibial epidermolysis bullosa and deafness', 'Spinocerebellar ataxia, autosomal recessive 28', 'Macrocephaly, dysmorphic facies, and psychomotor retardation', 'Joubert syndrome 15', 'Parkinson disease 23, autosomal recessive early-onset', 'Intellectual developmental disorder with cardiac defects and dysmorphic facies', 'Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development', 'Joubert syndrome 27', 'Mandibulofacial dysostosis with ptosis, autosomal dominant', 'Ichthyosis, follicular, with atrichia and photophobia syndrome 2', 'Generalized epilepsy with febrile seizures plus, type 2', 'Hypertryptophanemia', 'Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure', 'Muir-Torre syndrome', 'Familial adenomatous polyposis 4', 'Ataxia-telangiectasia-like disorder 1', 'Manitoba oculotrichoanal syndrome', 'Chromosome 13q14 deletion syndrome', 'Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies', 'Acrocallosal syndrome', 'Spastic paraplegia 76, autosomal recessive', 'Cone-Rod dystrophy 16', 'Mental retardation, autosomal dominant 2', 'Pilarowski-Bjornsson syndrome', 'Dystonia 24', 'Arthrogryposis, distal, type 2B', 'Char syndrome', 'Hereditary motor and sensory neuropathy V', 'Chitayat syndrome', 'Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss', 'Focal facial dermal dysplasia 3, Setleis type', 'Deafness, dystonia, and cerebral hypomyelination', 'Mental retardation, X-linked, syndromic, Houge type', 'Epilepsy, nocturnal frontal lobe, 4', 'Neurodevelopmental disorder with impaired speech and hyperkinetic movements', 'Spondylocarpotarsal synostosis syndrome', 'Intellectual developmental disorder, autosomal dominant 58', 'Microcephaly, seizures, spasticity, and brain calcifications', 'Hypomagnesemia 5, renal, with or without ocular involvement', 'Mental retardation, X-linked 90', 'Congenital anomalies of kidney and urinary tract, susceptibility to', 'Robinow-Sorauf syndrome', 'Retinitis pigmentosa 19', 'Retinitis pigmentosa 43', 'Retinitis pigmentosa 70', 'Retinitis pigmentosa 62', 'Retinitis pigmentosa 58', 'Ellis-Van creveld syndrome', 'Craniosynostosis 4', 'Parkinson disease 8, autosomal dominant', 'Popliteal pterygium syndrome, Bartsocas-Papas type 2', 'Charcot-Marie-Tooth disease, demyelinating, type 1J', 'Meckel syndrome 12', 'Ectodermal dysplasia with adrenal cyst', 'Ciliary dyskinesia, primary, 23', 'Spinocerebellar ataxia 26', 'Hypotrichosis 13', 'Neuronopathy, distal hereditary motor, type VIIA', 'Night blindness, congenital stationary (complete), 1C, autosomal recessive', 'Leber congenital amaurosis 5', 'Duane retraction syndrome 1', 'Night blindness, congenital stationary, type 1B', 'Epidermolysis bullosa, junctional 3B, severe', 'Epidermolysis bullosa simplex with nail dystrophy', 'Exudative vitreoretinopathy 5', 'Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails', 'Blepharocheilodontic syndrome 1', 'Retinitis pigmentosa 68', 'Auditory neuropathy and optic atrophy', 'Albinism, oculocutaneous, type IV', 'Night blindness, congenital stationary, type 2A', 'Epidermolysis bullosa simplex 1B, generalized intermediate', 'Retinitis pigmentosa 92', 'Woolly hair-skin fragility syndrome', 'Microphthalmia, isolated 6', 'Nail disorder, nonsyndromic congenital, 1', 'Cataract 48', 'Ectopia lentis et pupillae', 'Exudative vitreoretinopathy 7', 'Epidermolysis bullosa, junctional 2B, severe', 'Renal hypodysplasia/aplasia 4', 'Hypogonadotropic hypogonadism 11 with or without anosmia', 'Bamforth-Lazarus syndrome', 'Macular dystrophy, retinal, 2', 'Retinitis pigmentosa 93', 'Aniridia 2', 'Marie unna hereditary hypotrichosis 1', 'Corneal dystrophy, epithelial basement membrane', 'Macular dystrophy, butterfly-shaped pigmentary, 2', 'Spinocerebellar ataxia, autosomal recessive 22', 'Perrault syndrome 6', 'Spermatogenic failure 15', 'Van der woude syndrome 2', 'Ophthalmoplegia, external, and myopia', 'Brachydactyly, type B2', 'Nephrotic syndrome, type 4', 'Deafness, autosomal dominant 21', 'Spermatogenic failure 42', 'Ciliary dyskinesia, primary, 21', 'Spermatogenic failure 80', 'Spermatogenic failure 76', 'Spermatogenic failure 58', 'Spermatogenic failure 46', 'Spermatogenic failure 18', 'Spermatogenic failure 37', 'Spermatogenic failure 33', 'Spermatogenic failure 27', 'Microphthalmia, syndromic 2', 'Hypotrichosis and recurrent skin vesicles', 'Vertebral hypersegmentation and orofacial anomalies', 'Myoclonus, familial cortical', 'Arthrogryposis multiplex congenita 6', 'Ceroid lipofuscinosis, neuronal, 11', 'Buratti-Harel syndrome', 'Keratoderma-ichthyosis-deafness syndrome, autosomal recessive', 'Lissencephaly 3', 'Spastic paraplegia 23', 'Microphthalmia, isolated, with coloboma 5', 'Ataxia, posterior column, with retinitis pigmentosa', 'Acrofacial dysostosis 1, Nager type', 'Ermine phenotype', 'Spinocerebellar ataxia, autosomal recessive 25', 'Acromesomelic dysplasia, Demirhan type', 'Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay', 'Spastic paraplegia 15, autosomal recessive', 'Neuropathy, hereditary motor, with myopathic features', 'Peroxisomal fatty acyl-CoA reductase 1 disorder', 'Amelogenesis imperfecta, type IG (enamel-renal syndrome)', 'Joubert syndrome 26', '46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs', 'Charcot-Marie-Tooth disease, axonal, type 2F', 'Myasthenic syndrome, congenital, 16', 'Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome', 'Epileptic encephalopathy, early infantile, 60', 'GM2-gangliosidosis, AB variant', 'Spastic paraplegia 9B, autosomal recessive', 'Leukoencephalopathy, cystic, without megalencephaly', 'Kohlschutter-Tonz syndrome', 'Phosphoribosylaminoimidazole carboxylase deficiency', 'Pontocerebellar hypoplasia, type 1E', 'Chromosome 15q11-q13 duplication syndrome', 'Spinal muscular atrophy, distal, autosomal recessive, 5', 'Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive', 'Epilepsy, familial adult myoclonic, 4', 'Neuronopathy, distal hereditary motor, type VB', 'Craniofacial-deafness-hand syndrome', 'Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly', 'Ciliary dyskinesia, primary, 24', 'Auriculocondylar syndrome 3', 'Creutzfeldt-Jakob disease', 'Anterior segment dysgenesis 3', 'Generalized epilepsy with febrile seizures plus, type 9', 'Gaze palsy, familial horizontal, with progressive scoliosis, 1', 'Retinitis pigmentosa 79', 'Polymicrogyria, bilateral temporooccipital', 'Mental retardation, X-linked, syndromic, 35', 'Epilepsy, progressive myoclonic, 12', 'Orofaciodigital syndrome XVIII', 'Ciliary dyskinesia, primary, 11', 'Orofaciodigital syndrome III', 'Branchiogenic-deafness syndrome', 'Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)', 'Arthrogryposis, distal, type 1A', 'Mental retardation, autosomal dominant 41', 'Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes', 'Neurodevelopmental disorder with seizures and brain atrophy', 'Basal ganglia calcification, idiopathic, 6', 'Spastic paraplegia 32, autosomal recessive', 'Epileptic encephalopathy, early infantile, 59', 'Leber congenital amaurosis 7', 'Albinism, ocular, with late-onset sensorineural deafness', 'Cone-Rod dystrophy 5', 'Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities', 'Albinism, oculocutaneous, type V', 'Albinism, ocular, type I', 'Charcot-Marie-Tooth disease, demyelinating, type 1H', 'Achromatopsia 7', 'SIMHA syndrome', 'Intellectual developmental disorder and retinitis pigmentosa', 'Spinal muscular atrophy, late-onset, Finkel type', 'Orofaciodigital syndrome I', 'Epilepsy, familial adult myoclonic, 1', 'Ciliary dyskinesia, primary, 2', 'Developmental and epileptic encephalopathy 70', 'Escobar syndrome', 'Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction', 'Ciliary dyskinesia, primary, 33', 'Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome', 'Microcephaly-micromelia syndrome', 'Mental retardation, autosomal recessive 58', 'Hyperphenylalaninemia, MILD, non-bh4-deficient', 'Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome', 'Lacrimoauriculodentodigital syndrome-2', 'Epidermolysis bullosa dystrophica, autosomal dominant', 'Warburg micro syndrome 4', 'Speech development, delayed, with facial asymmetry, strabismus, andtransverse earlobe crease', 'Basal cell nevus syndrome', 'Microphthalmia, syndromic 5', 'Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder', 'Ciliary dyskinesia, primary, 12', 'Mohr syndrome', 'Danon disease', 'Spinocerebellar ataxia 10', 'Muscle glycogenosis, X-linked', 'Premature ovarian failure 18', 'Mental retardation, autosomal recessive 57', 'Otofaciocervical syndrome 2', 'Joubert syndrome 38', 'Developmental and epileptic encephalopathy 69', 'Ciliary dyskinesia, primary, 27', 'Neurodevelopmental disorder with seizures and gingival overgrowth', 'Epilepsy, familial focal, with variable foci 4', 'Cortical dysplasia, complex, with other brain malformations 10', 'Myoclonic epilepsy, familial infantile', 'Charcot-marie-tooth disease, axonal, type 2O', 'Ectodermal dysplasia with natal teeth, Turnpenny type', 'Ciliary dyskinesia, primary, 28', 'Arthrogryposis, distal, type 3', 'Adenomatous polyposis coli', 'Peroxisome biogenesis disorder 14B', 'Spinocerebellar ataxia, autosomal recessive 29', 'Epidermolysis bullosa, junctional 4, intermediate', 'Spastic paraplegia 86, autosomal recessive', 'Ciliary dyskinesia, primary, 42', 'Tumor predisposition syndrome', 'Spondyloperipheral dysplasia', 'Exudative vitreoretinopathy 1', 'Parkinsonism with polyneuropathy', 'Leopard syndrome 3', 'Charcot-Marie-Tooth disease, axonal, type 2D', 'Blepharophimosis with ptosis, syndactyly, and short stature', 'Spondyloepimetaphyseal dysplasia, Camera-Genevieve type', 'Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy', 'Orofaciodigital syndrome XV', 'Mend syndrome', 'Epileptic encephalopathy, early infantile, 84', 'Spastic paraplegia 37, autosomal dominant', 'Retinitis pigmentosa 12', 'Goldberg-Shprintzen syndrome', 'Spinocerebellar ataxia, autosomal recessive 16', 'Coffin-Siris syndrome 7', 'Leukodystrophy, hypomyelinating, 19, transient infantile', 'Hypotonia, infantile, with psychomotor retardation', 'Epileptic encephalopathy, early infantile, 19', 'Epileptic encephalopathy, early infantile, 32', 'Spinocerebellar ataxia 28', 'Alexander disease', 'Parkinson disease 14, autosomal recessive', 'Tessadori-van Haaften neurodevelopmental syndrome 3', 'Tuberous sclerosis-1', 'Leukodystrophy, hypomyelinating, 6', 'Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis', 'Spastic paraplegia 82, autosomal recessive', 'Intellectual developmental disorder, autosomal recessive 70', 'Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3', 'Parkinson disease 6, autosomal recessive early-onset', 'Deafness, autosomal dominant 85', 'Palmoplantar keratoderma and congenital alopecia 2', 'Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta', 'Spinocerebellar ataxia 11', 'Peeling skin syndrome 4', 'Peripheral cone dystrophy', 'Usher syndrome, type IIIA', 'Night blindness, congenital stationary, type 1F', 'Amyloidosis, primary localized cutaneous, 3', 'Ichthyosis hystrix, Curth-Macklin type', 'Ectodermal dysplasia 9, Hair/nail type', 'Microcornea, myopic chorioretinal atrophy, and telecanthus', 'Retinitis pigmentosa 69', 'Retinitis pigmentosa 97', 'Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive', 'Retinitis pigmentosa 38', 'Optic atrophy 9', 'Edict syndrome', 'Dermatopathia pigmentosa reticularis', 'Keratosis linearis with ichthyosis congenita and sclerosing keratoderma', 'Yemenite deaf-blind hypopigmentation syndrome', 'Witkop syndrome', 'Deafness, sensorineural, and male infertility', 'Cone-Rod dystrophy 18', 'Cone-Rod dystrophy 19', 'Hyperpigmentation, familial progressive', 'Macular dystrophy, vitelliform, 5', 'Acrokeratosis verruciformis', 'Palmoplantar keratoderma and woolly hair', 'Epidermodysplasia verruciformis, susceptibility to, 3', 'Spermatogenic failure 2', 'Tietz albinism-deafness syndrome', 'Spermatogenic failure 38', 'Usher syndrome, type I', 'Spermatogenic failure 56', 'Spermatogenic failure 39', 'Spermatogenic failure, X-linked, 5', 'Spermatogenic failure 34', 'Spermatogenic failure 72', 'Polymicrogyria, bilateral frontoparietal', 'Robinow syndrome, autosomal recessive 2', 'Epileptic encephalopathy, early infantile, 56', 'Hand-foot-uterus syndrome', 'Teebi-Shaltout syndrome', 'Parkinson disease 7, autosomal recessive early-onset', 'Neuropathy, distal hereditary motor, type VC', 'Microphthalmia, syndromic 8', 'Spinocerebellar ataxia 34', 'Joubert syndrome 14', 'Spermatogenic failure 77', 'Retinal dystrophy with or without extraocular anomalies', 'Basal cell nevus syndrome 2', 'Charcot-Marie-Tooth disease, axonal, type 2FF', 'Spastic paraplegia 13, autosomal dominant', 'Ciliary dyskinesia, primary, 38', 'Ciliary dyskinesia, primary, 49, without situs inversus', 'Autism susceptibility, X-linked 1', 'Corpus callosum, agenesis of, with facial anomalies and Robin sequence', 'Ciliary dyskinesia, primary, 34', 'Ulna and fibula, absence of, with severe limb deficiency', 'Exfoliation syndrome', 'Spinal muscular atrophy, distal, autosomal recessive, 2', 'Neurodevelopmental disorder with poor language and loss of hand skills', 'Developmental and epileptic encephalopathy 57', 'Schilbach-Rott syndrome', 'Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism', 'Developmental and epileptic encephalopathy 108', 'Intellectual developmental disorder 60 with seizures', 'Myopathy, centronuclear, 6, with fiber-type disproportion', 'Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities', 'Ciliary dyskinesia, primary, 7', 'Charcot-Marie-Tooth disease, axonal, type 2DD', 'Alternating hemiplegia of childhood 2', 'Cone-rod dystrophy 22', 'Charcot-Marie-Tooth disease, axonal, type 2V', 'Huntington disease-like 1', 'MICROHYDRANENCEPHALY', 'Intellectual developmental disorder, autosomal recessive 48', 'Congenital disorder of glycosylation, type 2V', 'Spastic paraplegia 57, autosomal recessive', 'Alopecia-mental retardation syndrome 4', 'Xeroderma pigmentosum, complementation group A', 'Developmental and epileptic encephalopathy 17', 'Microphthalmia, isolated 5', 'Basal ganglia calcification, idiopathic, 4', 'Weyers ulnar ray/oligodactyly syndrome', 'Cherubism', 'Neuropathy, ataxia, and retinitis pigmentosa', 'Intellectual developmental disorder, autosomal dominant 5', 'Triglyceride storage disease, type I', 'Spinocerebellar ataxia 40', 'Otofaciocervical syndrome', 'Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements', 'Laryngoonychocutaneous syndrome', 'MOMO syndrome', 'Robinow syndrome, autosomal dominant 2', 'Joubert syndrome 30', 'Corneal dystrophy, congenital stromal', 'Cone dystrophy 4', 'Cataract 2, multiple types', 'Oculocutaneous albinism, type VIII', 'Prieto syndrome', 'Pontocerebellar hypoplasia, type 2F', 'Spastic paraplegia 36, autosomal dominant', 'Fibrosis of extraocular muscles, congenital, 2', 'Pfeiffer syndrome', 'Congenital hemidysplasia with ichthyosiform erythroderma and limb defects', 'Cortical dysplasia, complex, with other brain malformations 7', 'Myopathy, scapulohumeroperoneal', 'Epidermolysis bullosa simplex, Dowling-Meara type', 'Neuropathy, hereditary sensory, type IIC', 'Epidermolysis bullosa, lethal acantholytic', 'Dystonia 22, juvenile-onset', 'Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia', 'Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities', 'Catifa syndrome', 'Epileptic encephalopathy, early infantile, 52', 'Muscular dystrophy, Becker type', 'Neurodevelopmental disorder with or without early-onset generalized epilepsy', 'Malan syndrome', 'Ciliary dyskinesia, primary, 19', 'Acrorenal-Mandibular syndrome', 'Developmental and epileptic encephalopathy 15', 'Spastic paraplegia 19, autosomal dominant', 'Spastic tetraplegia, thin corpus callosum, and progressive microcephaly', 'Developmental and epileptic encephalopathy 14', 'Spinocerebellar ataxia 49', 'Stapes ankylosis with broad thumb and toes', 'Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures', 'Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth', 'Basal ganglia calcification, idiopathic, 8, autosomal recessive', 'Microphthalmia, isolated 8', 'Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant', 'Epilepsy, familial adult myoclonic, 3', 'Neurofacioskeletal syndrome with or without renal agenesis', 'Multiple congenital anomalies-hypotonia-seizures syndrome 1', 'Pituitary hormone deficiency, combined or isolated, 8', 'Mental retardation, autosomal dominant 44', 'Myasthenic syndrome, congenital, 18', 'Frontotemporal lobar degeneration with TDP43 inclusions', 'Retinitis pigmentosa 60', 'Retinitis pigmentosa 41', 'Spinal muscular atrophy, type I', 'Microcephaly and chorioretinopathy, autosomal recessive, 2', 'Saethre-Chotzen syndrome', 'Dyskinesia, seizures, and intellectual developmental disorder', 'Spastic paraplegia 87, autosomal recessive', 'Joubert syndrome 7', 'Myotonia congenita, autosomal dominant', 'Epileptic encephalopathy, early infantile, 24', 'Spastic paraplegia 55, autosomal recessive', 'Spastic ataxia, Charlevoix-Saguenay type', 'Nail-Patella syndrome', 'Cree mental retardation syndrome', 'Stickler syndrome, type IV', 'Charcot-Marie-Tooth disease, axonal, type 2X', 'Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures', 'Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy', 'Dystonia 33', 'Ciliary dyskinesia, primary, 32', 'Mental retardation, autosomal recessive 39', 'Spastic paraplegia 38, autosomal dominant', '46,xx sex reversal 4', 'Renal hypodysplasia/aplasia 3', 'Auriculocondylar syndrome 4', 'Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum', 'Lichtenstein-Knorr syndrome', 'Fibrosis of extraocular muscles, congenital, 1', 'Neurodevelopmental disorder with severe motor impairment and absent language', 'Spinocerebellar ataxia 12', 'Spastic ataxia 9, autosomal recessive', 'Ciliary dyskinesia, primary, 9, with or without situs inversus', 'Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies', 'Alzahrani-Kuwahara syndrome', 'Autism susceptibility, X-linked 3', 'Retinal degeneration with nanophthalmos, cystic macular degeneration,and angle closure glaucoma', 'Joubert syndrome 24', 'Tooth agenesis, selective, 3', 'Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis', 'Pelizaeus-Merzbacher disease', 'Cataract 50 with or without glaucoma', 'Woolly hair, autosomal dominant', 'Cornea plana 2', 'Pityriasis rubra pilaris', 'Epidermolysis bullosa simplex 2A, generalized severe', 'Retinal degeneration, late-onset, autosomal dominant', 'Hypertrichosis terminalis, generalized, with or without gingival hyperplasia', 'Myopia, high, with cataract and vitreoretinal degeneration', '46,xy sex reversal 6', '46,xy sex reversal 7', 'Dystonia 6, torsion', 'Spermatogenic failure 54', 'Spermatogenic failure 51', 'Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities', 'Down syndrome', 'Stickler syndrome, type II', 'Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia', 'Spastic paraplegia 47, autosomal recessive', 'Intellectual developmental disorder, autosomal recessive 44', 'Cleft, median, of upper lip with polyps of facial skin and nasal mucosa', 'Faciodigitogenital syndrome, autosomal recessive', 'Acrofacial dysostosis syndrome of rodriguez', 'Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome', \"Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp\", 'Mitochondrial form of axonal Charcot-Marie-Tooth disease-1', 'Orofaciodigital syndrome XIV', '3MC syndrome 2', 'Stickler syndrome, type VI', 'Developmental and epileptic encephalopathy 33', 'Retinitis pigmentosa 72', 'Ceroid lipofuscinosis, neuronal, 7', 'Marden-Walker syndrome', 'Epileptic encephalopathy, early infantile, 43', 'Odontotrichoungual-Digital-Palmar syndrome', 'Deafness, cataract, impaired intellectual development, and polyneuropathy', 'Poretti-Boltshauser syndrome', 'Mental retardation, anterior maxillary protrusion, and strabismus', 'Temtamy preaxial brachydactyly syndrome', 'Melnick-Needles syndrome', 'Spastic paraplegia 81, autosomal recessive', 'Dystonia 11, myoclonic', 'Birt-Hogg-Dube syndrome', 'Epilepsy, idiopathic generalized, susceptibility to, 15', 'Zimmermann-Laband syndrome 3', 'Neuronopathy, distal hereditary motor, type VA', 'Cortical dysplasia, complex, with other brain malformations 9', 'Developmental and epileptic encephalopathy 26', 'Spinocerebellar ataxia, autosomal recessive 14', 'Intellectual developmental disorder, autosomal dominant 30', 'Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis', 'Charcot-Marie-Tooth disease, demyelinating, type 1I', 'Rodrigues blindness', 'Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies', '46XY sex reversal 1', 'Waardenburg syndrome, type 4C', 'Mental retardation, autosomal dominant 1', 'Spastic paraplegia, intellectual disability, nystagmus, and obesity', 'Leukodystrophy, progressive, early childhood-onset', 'Chiari malformation type II', 'Retinal cone dystrophy 3B', 'Cone-rod dystrophy and hearing loss', 'Achromatopsia 3', 'Leber congenital amaurosis with early-onset deafness', 'Senior-Loken syndrome 3', 'Cerebellofaciodental syndrome', 'Carpenter syndrome 2', 'Arthrogryposis, distal, type 5D', 'Trichothiodystrophy 9, nonphotosensitive', 'Spinocerebellar ataxia 20', 'Duchenne muscular dystrophy', 'Spastic ataxia 3, autosomal recessive', 'Frontonasal dysplasia 3', 'Spastic paraplegia 12, autosomal dominant', 'Spinocerebellar ataxia 15', 'Ceroid lipofuscinosis, neuronal, 13', 'Mullerian aplasia and hyperandrogenism', 'Ichthyosis, congenital, autosomal recessive 9', 'Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism', 'Neurodegeneration with brain iron accumulation 6', 'Dentatorubral-pallidoluysian atrophy', 'Myopathy, congenital proximal, with minicore lesions', 'Dystonia 26, myoclonic', 'Spinocerebellar ataxia 17', 'Camptodactyly syndrome, Guadalajara, type III', 'Brown-Vialetto-Van Laere syndrome 1', 'Developmental and epileptic encephalopathy 6B, non-Dravet', 'Hypogonadotropic hypogonadism 12 with or without anosmia', 'Brachycephaly, deafness, cataract, microstomia, and mental retardation', 'Chromosome 16p13.2 deletion syndrome', 'Pontocerebellar hypoplasia, type 7', '46, XY sex reversal 11', 'Coenzyme Q10 deficiency, primary, 9', 'Spinocerebellar ataxia 23', 'Palmoplantar keratoderma with congenital alopecia', 'Mental retardation, autosomal recessive 38', 'Ichthyosis with erythrokeratoderma', 'Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy', 'Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities', 'Neuronopathy, distal hereditary motor, type IIC', 'Neurodevelopmental disorder with speech delay and variable ocular anomalies', 'Leukoencephalopathy with ataxia', 'Hereditary motor and sensory neuropathy VIA', 'Hemifacial microsomia with radial defects', 'Intellectual developmental disorder with neuropsychiatric features', 'Craniosynostosis and dental anomalies', 'Developmental and epileptic encephalopathy 23', 'Beare-Stevenson cutis gyrata syndrome', 'Orofaciodigital syndrome IX', 'Spinocerebellar ataxia 43', 'Retinitis pigmentosa 10', 'Cone-rod dystrophy 3', 'Donnai-Barrow syndrome', 'Ciliary dyskinesia, primary, 30', 'Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities', 'Spastic paraplegia, ataxia, and mental retardation', 'Intellectual developmental disorder, autosomal recessive 43', 'Rafiq syndrome', 'Mental retardation, autosomal dominant 55, with seizures', 'Sjogren-Larsson syndrome', 'Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2', 'Whistling face syndrome, recessive form', 'Optic atrophy 10 with or without ataxia, mental retardation, and seizures', 'Optic atrophy 7 with or without auditory neuropathy', 'Ichthyosis prematurity syndrome', 'Developmental and epileptic encephalopathy 97', 'Hypogonadotropic hypogonadism 3 with or without anosmia', 'Acrofrontofacionasal dysostosis 2', 'Charcot-Marie-Tooth disease, axonal, type 2E', 'Muenke syndrome', 'Intellectual developmental disorder with ocular anomalies and distinctive facial features', 'Myasthenic syndrome, congenital, 7, presynaptic', 'Indifference to pain, congenital, autosomal recessive', 'Frontonasal dysplasia 1', 'Neurodevelopmental disorder with dysmorphic facies and variable seizures', 'Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation', 'Epileptic encephalopathy, early infantile, 74', 'Microcephaly 29, primary, autosomal recessive', 'Beaulieu-Boycott-Innes syndrome', 'Intellectual developmental disorder, autosomal recessive 67', 'Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4', 'Epilepsy, familial adult myoclonic, 2', 'Spermatogenic failure, X-linked, 6', 'Microcephaly and chorioretinopathy, autosomal recessive, 1', 'Bjornstad syndrome', 'Otodental dysplasia', 'Microcephaly 20, primary, autosomal recessive', 'Ichthyosis, congenital, autosomal recessive 2', 'Epilepsy, progressive myoclonic, 8', 'Ritscher-Schinzel syndrome 4', 'Epileptic encephalopathy, early infantile, 81', 'Snijders Blok-Fisher syndrome', 'Leukoencephalopathy, brain calcifications, and cysts', 'Developmental and epileptic encephalopathy 100', 'Joubert syndrome 4', 'Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities', 'Hypotrichosis 1', 'Hypotrichosis 5', 'Branchiootic syndrome 1', 'Monilethrix', 'Retinitis pigmentosa 66', 'Usher syndrome, type IV', 'Epidermolysis bullosa simplex, generalized, with scarring and hair loss', 'Inflammatory poikiloderma with hair abnormalities and acral keratoses', 'Coloboma, ocular, autosomal recessive', 'Bietti crystalline corneoretinal dystrophy', 'Anterior segment dysgenesis 8', 'Ectodermal dysplasia 8, Hair/tooth/nail type', 'Spermatogenic failure 65', 'Spermatogenic failure 84', 'Emery-Dreifuss muscular dystrophy 1, X-linked', 'Cerebellar ataxia and hypogonadotropic hypogonadism', 'Hypogonadotropic hypogonadism 7 without anosmia', 'Intellectual developmental disorder with paroxysmal dyskinesia or seizures', 'Blepharocheilodontic syndrome 2', 'Intellectual developmental disorder with seizures and language delay', 'Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures', 'Tessadori-van Haaften neurodevelopmental syndrome 2', 'Scapuloperoneal spinal muscular atrophy', 'Spinocerebellar ataxia, autosomal recessive 18', 'Pitt-Hopkins syndrome', 'Immunoneurologic disorder, X-linked', 'Neuronopathy, distal hereditary motor, type IID', 'Epileptic encephalopathy, early infantile, 61', 'Teebi hypertelorism syndrome 1', 'Cerebellar atrophy, visual impairment, and psychomotor retardation', 'Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency', 'Coffin-Siris syndrome 9', 'Spastic paraplegia 43, autosomal recessive', 'Ciliary dyskinesia, primary, 15', 'Anonychia-Onychodystrophy with hypoplasia or absence of distal phalanges', 'Spinocerebellar ataxia, autosomal recessive 2', 'Craniofacioskeletal syndrome', 'Elejalde disease', 'Spinocerebellar ataxia, autosomal recessive 15', 'Ectodermal dysplasia 15, Hypohidrotic/hair type', 'Agenesis of corpus callosum, cardiac, ocular, and genital syndrome', 'Ciliary dyskinesia, primary, 26', 'Hydrocephalus, congenital, 2, with or without brain or eye anomalies', 'Retinitis pigmentosa with or without situs inversus', 'Cone-rod dystrophy, X-linked, 1', 'Leber congenital amaurosis 16', 'Charcot-Marie-Tooth disease, X-linked recessive, 5', 'Macular dystrophy, patterned, 1', 'Macular dystrophy, vitelliform, 3', 'Chromosome 9P deletion syndrome', 'Waardenburg syndrome, type 2E', 'PHACE association', 'Cowden syndrome 5', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3', 'Deafness, congenital, and onychodystrophy, autosomal dominant', 'Neurodevelopmental disorder with language impairment and behavioral abnormalities', 'Epileptic encephalopathy, early infantile, 31', 'Spastic paraplegia 78, autosomal recessive', 'Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma', 'Darier-White disease', 'Spinocerebellar ataxia 47', 'Dystonia 34, myoclonic', 'Basan syndrome', 'Epidermolysis bullosa, junctional, Non-Herlitz type', 'Optic atrophy 5', 'Usmani-Riazuddin syndrome, autosomal dominant', 'Spastic paraplegia 45, autosomal recessive', 'Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2', 'Spinocerebellar ataxia, autosomal recessive 4', 'Lamb-Shaffer syndrome', 'Intellectual developmental disorder with autism and dysmorphic facies', 'Retinitis pigmentosa 56', 'Chromosome 15q14 deletion syndrome', 'Developmental delay with or without dysmorphic facies and autism', 'Epilepsy, progressive myoclonic, 10', 'Episodic ataxia, type 2', 'Deafness, congenital, with inner ear agenesis, microtia, and microdontia', 'Epileptic encephalopathy, early infantile, 9', 'Spastic paraplegia 10, autosomal dominant', 'Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities', 'Aarskog-Scott syndrome', 'Pallister-Hall syndrome', 'Leber congenital amaurosis 14', 'Olmsted syndrome 2', 'Developmental and epileptic encephalopathy 99', 'Developmental and epileptic encephalopathy 98', 'Macrocephaly, acquired, with impaired intellectual development', 'Fetal akinesia deformation sequence 4', 'Epileptic encephalopathy, early infantile, 67', 'Leukodystrophy, hypomyelinating, 22', 'Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum', 'Ciliary dyskinesia, primary, 51', 'Intellectual developmental disorder with severe speech and ambulation defects', 'Hallermann-Streiff syndrome', 'Spastic paraplegia 18, autosomal recessive', 'Mental retardation, X-linked, syndromic 14', 'Neurodevelopmental disorder with microcephaly and structural brain anomalies', 'Trigonocephaly with short stature and developmental delay', 'Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy', 'Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities', 'Craniofacial anomalies and anterior segment dysgenesis syndrome', 'Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition', 'Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)', 'Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy', 'Kosaki overgrowth syndrome', 'Epileptic encephalopathy, early infantile, 87', 'Mental retardation, X-linked, syndromic 33', 'Hypotonia, infantile, with psychomotor retardation and characteristic facies 3', 'Cone-rod dystrophy 24', 'Epileptic encephalopathy, early infantile, 37', 'Mental retardation, X-linked, syndromic, Martin-Probst type', 'Congenital anomalies of kidney and urinary tract 3', 'Warburg-Cinotti syndrome', 'Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies', 'Ichthyosis, cyclic, with epidermolytic hyperkeratosis', 'Chromosome 8q21.11 deletion syndrome', 'Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant', 'Ectodermal dysplasia 13, Hair/tooth type', 'Spinocerebellar ataxia 2', 'Ectodermal dysplasia 4, Hair/nail type', 'Macular dystrophy with central cone involvement', 'Keratosis palmoplantaris striata I', 'Pachyonychia congenita 3', 'Palmoplantar keratoderma, Nagashima type', 'Intellectual developmental disorder 59', 'Cataract 21, multiple types', '46,XX sex reversal 2', 'Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy', 'Neurodevelopmental disorder with microcephaly and movement abnormalities', 'Persistent hyperplastic primary vitreous, autosomal recessive', 'Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus', 'Develomental and epileptic encephalopathy 94', 'Multiple myeloma', 'Leber congenital amaurosis, type II', 'Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive', 'Chromosome 3q13.31 deletion syndrome', 'Cerebellar dysfunction with variable cognitive and behavioral abnormalities', 'Intellectual disability and myopathy syndrome', 'Spinocerebellar ataxia 50', 'Chromosome 17p13.1 deletion syndrome', 'White-Kernohan syndrome', 'Spinocerebellar ataxia 13', 'Blepharophimosis-impaired intellectual development syndrome', 'Acrofrontofacionasal dysostosis 1', 'Adenylosuccinase deficiency', 'Joubert syndrome 28', 'Brachydactyly, type C', 'Retinitis pigmentosa 3', 'Episodic ataxia, type 5', 'Machado-Joseph disease', 'Ichthyosis, congenital, autosomal recessive 6', 'Peroxisome biogenesis disorder 10B', 'Neurodegeneration with brain iron accumulation 2A', 'Myopathy, X-linked, with postural muscle atrophy', 'Mental retardation, autosomal dominant 49', 'Vulto-van Silfout-de Vries syndrome', 'Keratosis follicularis spinulosa decalvans, autosomal dominant', 'Parkinson disease 15, autosomal recessive early-onset', 'Cerebellar atrophy with seizures and variable developmental delay', 'Spastic ataxia 2, autosomal recessive', 'Hypogonadotropic hypogonadism 16 with or without anosmia', 'Spastic ataxia 4, autosomal recessive', 'Lissencephaly 10', 'Axenfeld-Rieger syndrome, type 1', 'Spastic paraplegia 3, autosomal dominant', 'Coffin-Lowry syndrome', 'Myasthenia, limb-girdle, autoimmune', 'Neurodevelopmental disorder with hearing loss and spasticity', 'Cowden syndrome 6', 'Acromelic frontonasal dysostosis', 'Dystonia 30', 'Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia', 'Marbach-Schaaf neurodevelopmental syndrome', 'Richieri-Costa/guion-Almeida syndrome', 'Seckel syndrome 5', 'Congenital anomalies of kidney and urinary tract 2', 'Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly', 'Leukoencephalopathy, progressive, with ovarian failure', 'Spinocerebellar ataxia, autosomal recessive 10', 'Developmental and epileptic encephalopathy 93', 'Frontotemporal dementia and/or amytrophic lateral sclerosis 7', 'Nystagmus 4, congenital, autosomal dominant', 'Zimmermann-Laband syndrome 2', 'Zechi-Ceide syndrome', 'Holoprosencephaly 5', 'Chromosome 1q41-q42 deletion syndrome', 'Lissencephaly 6, with microcephaly', 'Ichthyosis, congenital, autosomal recessive 1', 'Trichothiodystrophy 4, nonphotosensitive', 'Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant', 'Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma', 'Chilton-Okur-Chung neurodevelopmental syndrome', 'Mesomelia-Synostoses syndrome', 'Mental retardation and distinctive facial features with or without cardiac defects', 'Weaver syndrome', 'Leukodystrophy, hypomyelinating, 2', 'Holoprosencephaly 9', 'Popliteal pterygium syndrome', 'Hypotrichosis 12', 'Bryant-Li-Bhoj neurodevelopmental syndrome 1', 'Wagner vitreoretinopathy', 'Neurodevelopmental disorder with or without variable movement or behavioral abnormalities', 'Cone-Rod dystrophy 20', 'Epidermolysis bullosa simplex with mottled pigmentation', 'Foveal hypoplasia 2', 'Waardenburg syndrome, type 2F', 'Breasts and/or nipples, aplasia or hypoplasia of, 2', 'Cutaneous telangiectasia and cancer syndrome, familial', 'Mental retardation and microcephaly with pontine and cerebellar hypoplasia', 'Pitt-Hopkins like syndrome 1', 'Holoprosencephaly 3', 'Nablus mask-like facial syndrome', 'Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1', 'Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia', 'Spastic paraplegia 48, autosomal recessive', 'Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset', 'Epileptic encephalopathy, early infantile, 42', 'Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia', 'Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly', 'Epileptic encephalopathy, early infantile, 4', 'Spastic paraplegia 17', 'Spastic paraplegia 51, autosomal recessive', 'Hypogonadotropic hypogonadism 22 with or without anosmia', 'Kufor-Rakeb syndrome', 'Spastic paraplegia 6, autosomal dominant', 'Cognitive impairment with or without cerebellar ataxia', 'Parkinson disease 19a, juvenile-onset', 'Radio-Tartaglia syndrome', 'Testicular tumor, somatic', 'Developmental and epileptic encephalopathy 28', 'Lethal congenital contracture syndrome 9', 'Macroglobulinemia, Waldenstrom, somatic', 'Mental retardation, x-linked syndromic, Christianson type', 'Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies', 'Corneal dystrophy, posterior polymorphous, 1', 'Chromosome 16q12 duplication syndrome', 'Spinocerebellar ataxia 29, congenital nonprogressive', 'Microphthalmia, syndromic 1', 'Neuropathy, hereditary sensory and autonomic, type IC', 'Interstitial lung disease 1', 'CHOROIDEREMIA', 'Warburg micro syndrome 2', 'Menke-Hennekam syndrome 1', 'Mental retardation, x-linked syndromic, Turner type', 'Jalili syndrome', 'Nemaline myopathy 7', 'Complement component 4B deficiency', 'Cousin syndrome', 'Fraser syndrome', 'Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies', 'Hemifacial microsomia', 'Amyotrophic lateral sclerosis 27, juvenile', 'Arthrogryposis multiplex congenita, neurogenic, with myelin defect', 'Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features', 'Corpus callosum, agenesis of, with abnormal genitalia', 'Dystonia 28, childhood-onset', 'Spastic paraplegia 80, autosomal dominant', 'Mehmo syndrome', 'Spinocerebellar ataxia, autosomal recessive 13', 'Ectodermal dysplasia 7, Hair/nail type', 'Developmental and epileptic encephalopathy 48', 'Macrophthalmia, colobomatous, with microcornea', 'Corneal opacification with other ocular anomalies', 'Epidermolysis bullosa, junctional 5A, intermediate', 'Epilepsy, familial temporal lobe, 1', 'Hypotrichosis 8', '46,XY sex reversal 10', 'Intellectual developmental disorder with hypertelorism and distinctive facies', 'Chromosome 1p36 deletion syndrome', 'Mental retardation, X-linked 98', 'Ayme-Gripp syndrome', 'Mental retardation, X-linked, syndromic, Snyder-Robinson type', 'Periventricular nodular heterotopia 9', 'Floating-Harbor syndrome', 'Spastic paraplegia 35, autosomal recessive', 'Restrictive dermopathy 1', 'Epileptic encephalopathy, early infantile, 13', 'Ciliary dyskinesia, primary, 22', 'Pachyonychia congenita 2', 'Hiatt-Neu-Cooper neurodevelopmental syndrome', 'Basilicata-Akhtar syndrome', 'Optic disc anomalies with retinal and/or macular dystrophy', 'Nasopalpebral lipoma-coloboma syndrome', 'Spinocerebellar ataxia 5', 'Parenti-Mignot neurodevelopmental syndrome', 'Ciliary dyskinesia, primary, 5', 'Gallbladder disease 4', 'Tolchin-Le Caignec syndrome', 'Parkinson disease, juvenile, type 2', 'Mental retardation, x-linked syndromic, Lubs type', 'Spastic paraplegia 50, autosomal recessive', 'Optic atrophy 1', 'Robinow syndrome, autosomal recessive', 'Galloway-Mowat syndrome 2, X-linked', 'Scalp-ear-nipple syndrome', 'Spinocerebellar ataxia 1', 'Hengel-Maroofian-Schols syndrome', 'Hay-Wells syndrome', 'Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures', 'Spinocerebellar ataxia, autosomal recessive 17', 'Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked', 'Alazami-Yuan syndrome', 'Basal ganglia calcification, idiopathic, 5', 'Neuropathy, hereditary motor and sensory, type VIB', 'Genitourinary and/or/brain malformation syndrome', 'Hereditary motor and sensory neuropathy, type IIC', 'Tuberous sclerosis-2', 'Duane-Radial ray syndrome', 'Hypotrichosis 7', 'Anterior segment dysgenesis 5, multiple subtypes', 'Cone-Rod dystrophy 2', 'Albinism, oculocutaneous, type II', 'Ectodermal dysplasia/skin fragility syndrome', 'Waardenburg syndrome, type 2A', 'Trichothiodystrophy 8, nonphotosensitive', 'Developmental and epileptic encephalopathy 105 with hypopituitarism', 'Denys-Drash syndrome', 'Spastic paraplegia 52, autosomal recessive', 'Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation', 'Achromatopsia 2', 'Craniofacial dyssynostosis with short stature', 'Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type', 'Epilepsy, idiopathic generalized, susceptibility to, 9', 'Thrombophilia, X-linked, due to factor IX defect', 'Ichthyosis, hystrix-like, with deafness', 'Mandibulofacial dysostosis with alopecia', 'Cri-Du-Chat syndrome', 'Intellectual developmental disorder, autosomal recessive 45', 'Developmental delay with variable neurologic and brain abnormalities', 'Adams-Oliver syndrome 2', 'Urbach-Wiethe disease', 'Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism,and facial dysmorphism', 'Coffin-Siris syndrome 1', 'Leber congenital amaurosis 8', 'Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic', 'Neurodevelopmental disorder with midbrain and hindbrain malformations', 'Orofaciodigital syndrome XI', 'Spastic paraplegia 4, autosomal dominant', 'Short stature, hearing loss, retinitis pigmentosa, and distinctive facies', 'Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctatecalcifications, and deafness', 'Cleft lip/palate-ectodermal dysplasia syndrome', 'Simosa craniofacial syndrome', 'Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly', 'Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract', 'Ichthyosis, congenital, autosomal recessive 11', 'Mental retardation, autosomal dominant 18', 'Pseudohypoparathyroidism, type II', 'Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads', 'Neurofibromatosis, type II', 'Joubert syndrome 3', 'Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits', 'Neurodevelopmental disorder with poor growth and skeletal anomalies', 'Van den Ende-Gupta syndrome', 'Robinow syndrome, autosomal dominant 1', 'Marshall syndrome', 'Otopalatodigital syndrome, type II', 'Olmsted syndrome 1', 'Mental retardation, autosomal dominant 34', 'Brachycephaly, trichomegaly, and developmental delay', 'Waardenburg syndrome, type 1', 'Dentici-Novelli neurodevelopmental syndrome', 'Constricting bands, congenital', 'Spastic paraplegia 46, autosomal recessive', 'Complement component c1s deficiency', 'Global developmental delay, lung cysts, overgrowth, and wilms tumor', 'Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb', 'Warburg micro syndrome 3', 'Joubert syndrome 5', 'Cerebrooculonasal syndrome', 'Treacher Collins syndrome 1', 'ENDOCRINE-CEREBROOSTEODYSPLASIA', 'Chromosome xq27.3-q28 duplication syndrome', 'Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type', 'Skin creases, congenital symmetric circumferential, 1', 'Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities', 'Anterior segment dysgenesis 2', 'Holoprosencephaly 7', 'Retinitis pigmentosa 2, X-linked', 'Hypogonadotropic hypogonadism 23 without anosmia', 'Developmental and epileptic encephalopathy 89', 'Hypertension, essential', 'Spastic paraplegia 75, autosomal recessive', 'Teebi hypertelorism syndrome 2', 'Spastic paraplegia 26, autosomal recessive', 'Membranoproliferative glomerulonephritis, X-linked', 'Clouston syndrome', 'KBG syndrome', 'Arthrogryposis, distal, type 5', 'Albinism, oculocutaneous, type IA', 'Frontofacionasal dysplasia', 'Spastic paraplegia 79, autosomal recessive', 'Adult syndrome', 'Elsahy-Waters syndrome', 'Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism', 'Auriculocondylar syndrome 1', 'Spinal and bulbar muscular atrophy, X-linked 1', 'Myasthenia gravis', 'Intellectual developmental disorder, autosomal dominant 38', 'Ohdo syndrome, X-linked', 'Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs', 'Epileptic encephalopathy, early infantile, 49', \"Van Esch-O'Driscoll syndrome\", 'Leber congenital amaurosis 15', 'Liang-Wang syndrome', 'Mental retardation, X-linked, syndromic 34', 'CK syndrome', 'Popliteal pterygium syndrome, Bartsocas-Papas type 1', 'Ablepharon-Macrostomia syndrome', 'Spinocerebellar ataxia 21', 'Oculodentodigital dysplasia', 'Charcot-Marie-Tooth disease, axonal, type 2Z', 'Intellectual developmental disorder, autosomal recessive 61', 'Multiple synostoses syndrome 1', 'Bosma arhinia microphthalmia syndrome', 'Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy', 'Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features', 'Doors syndrome', 'Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive', 'Mental retardation, autosomal dominant 29', 'Chromosome 6q11-q14 deletion syndrome', 'Leber congenital amaurosis 9', 'Ectodermal dysplasia and immunodeficiency 1', 'Cerebellar, ocular, craniofacial, and genital syndrome', 'Microphthalmia, isolated, with coloboma 9', 'Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities', 'Chromosome 16p13.3 duplication syndrome', 'Knobloch syndrome, type 1', 'Chloramphenicol toxicity', 'Charcot-Marie-Tooth neuropathy, X-linked dominant, 1', 'Orofacial cleft 15', 'Joubert syndrome 10', 'Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant', 'Pallister-Killian syndrome', 'Immunodeficiency 50', 'Intellectual developmental disorder, X-linked, syndrome, snijders Blok type', 'Epileptic encephalopathy, early infantile, 64', 'Blepharophimosis, epicanthus inversus, and ptosis', 'Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia', 'Schopf-Schulz-Passarge syndrome', 'Retinitis pigmentosa 73', 'Mental retardation, X-linked 99', 'Hypotonia, ataxia, and delayed development syndrome', 'Opitz-Kaveggia syndrome', 'Neurodevelopmental disorder with impaired language and ataxia and with or without seizures', 'Myelolymphatic insufficiency', 'VACTERL association, X-linked', 'Chromosome 2p16.1-p15 deletion syndrome', 'Nephrogenic syndrome of inappropriate antidiuresis', 'Congenital disorder of glycosylation, type IIm', 'Chromosome 17q12 deletion syndrome', 'Scapuloperoneal myopathy, X-linked dominant', 'Holoprosencephaly 13, X-linked', 'Intellectual developmental disorder, autosomal dominant 65', 'Wieacker-Wolff syndrome, female-restricted', 'Myopathy, X-linked, with excessive autophagy', 'Brachial amelia, cleft lip, and holoprosencephaly', 'Developmental and epileptic encephalopathy 90', 'Chromosome 5p13 duplication syndrome', 'Cornelia de Lange syndrome 2', 'Exudative vitreoretinopathy 6', 'Skin creases, congenital symmetric circumferential, 2', 'Myopathy, reducing body, X-linked, early-onset, severe', 'Choreoathetosis, hypothyroidism, and neonatal respiratory distress', 'Frontonasal dysplasia 2', 'Wieacker-Wolff syndrome', 'Trichothiodystrophy 5, nonphotosensitive', 'Mycosis fungoides', 'Orofaciodigital syndrome XIX', 'Branchiootorenal syndrome 1', 'Cardioneuromyopathy with hyaline masses and nemaline rods', 'Chromosome 6pter-p24 deletion syndrome', 'Robin sequence, distinctive facial appearance, and brachydactyly', 'Fragile site 16q22', 'Leukodystrophy, hypomyelinating, 24', 'Mental retardation, X-linked 99, syndromic, female-restricted', 'Myeloproliferative syndrome, transient', 'Brunner syndrome', 'Developmental and epileptic encephalopathy 2', 'Ritscher-Schinzel syndrome 2', 'Autism, susceptibility to, 3', 'Corpus callosum, agenesis of, with mental retardation, ocular coloboma,and micrognathia', 'Linear skin defects with multiple congenital anomalies 1', 'Panbronchiolitis, diffuse', 'Larsen-Like syndrome', 'Silver-Russell syndrome 2', 'Odontoonychodermal dysplasia', 'Burkitt lymphoma', 'Lacrimoauriculodentodigital syndrome-1', 'Curry-Jones syndrome', 'Spondyloepiphyseal dysplasia tarda, X-linked', 'Developmental delay with variable intellectual disability and dysmorphic facies', 'Terminal osseous dysplasia', 'Tonne-Kalscheuer syndrome', 'Chromosome 16p11.2 deletion syndrome, 593-kb', 'Thrombophilia 13, X-linked, due to factor VIII defect', 'Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome1', 'Neuroocular syndrome', 'Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3', 'Aicardi syndrome', 'Oculoauricular syndrome', 'Ectodermal dysplasia 1, hypohidrotic, X-linked', 'Rapp-Hodgkin syndrome', 'Varicose veins', 'Sturge-Weber syndrome', 'Mental retardation, X-linked 94', 'Simpson-Golabi-Behmel syndrome, type 2', 'Ischemic stroke, susceptibility to', 'Tetrasomy 15q26', 'Mental retardation, X-linked, syndromic 32', 'Chromosome 4q21 deletion syndrome', 'Developmental and epileptic encephalopathy 1', 'Ventricular fibrillation, familial, 1', 'Lipodystrophy, partial, acquired, with low complement component C3, with or without glomerulonephritis', 'Myopathy, centronuclear, X-linked', 'Dandy-Walker syndrome', 'Okt4 epitope deficiency', 'Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracicsomite anomalies', 'Diabetes mellitus, insulin-dependent, 15', 'OEIS complex', 'Arts syndrome', 'Barber-Say syndrome', 'Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration', 'Allan-Herndon-Dudley syndrome', 'Properdin deficiency, X-linked', 'Gomez-Lopez-Hernandez syndrome', 'Combined immunodeficiency, X-linked', 'Adrenoleukodystrophy', 'Otopalatodigital syndrome, type I', 'Developmental and epileptic encephalopathy 85, with or without midline brain defects', 'Borjeson-Forssman-Lehmann syndrome', 'Osteosclerosis - ichthyosis - premature ovarian failure', 'Preaxial hallucal polydactyly', 'Chromosome 22q11.2 deletion syndrome, distal', 'Granulomas, congenital cerebral', 'Hypogonadotropic hypogonadism 1 with or without anosmia', 'Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis', 'Incontinentia pigmenti', 'Ring chromosome 14 syndrome', 'Opitz GBBB syndrome', 'Psoriasis 1, susceptibility to', 'Asperger syndrome, susceptibility to, 2', 'Asperger syndrome, susceptibility to, 1', 'IFAP syndrome with or without BRESHECK syndrome', 'Encephalocraniocutaneous lipomatosis', 'Renpenning syndrome', 'Frontometaphyseal dysplasia', 'Craniofrontonasal syndrome', 'Diabetes mellitus, insulin-dependent, 10', 'Diabetes mellitus, insulin-dependent, 6', 'Autism, susceptibility to, 8', 'Autism susceptibility 1', 'Mental retardation, X-linked, syndromic, Chudley-Schwartz type', 'Barrett esophagus', 'Mental retardation, X-linked, syndromic, Cabezas type', 'McCune-Albright syndrome, somatic, mosaic', 'Aneurysm, intracranial berry, 2', 'Osteoarthritis susceptibility 1', 'Lujan-Fryns syndrome', 'Fragile X mental retardation syndrome', 'Focal cortical dysplasia of taylor', 'Mental retardation, X-linked, syndromic 17', 'Pettigrew syndrome', 'Oculocerebrocutaneous syndrome', 'Lymphoma, non-hodgkin, familial', 'MASA syndrome', 'Focal segmental glomerulosclerosis 3, susceptibility to', 'Chromosome Xq26.3 duplication syndrome', 'Myelodysplastic syndrome', 'Pelvic dysplasia - arthrogryposis of lower limbs', 'Neurocutaneous melanosis, somatic', 'Developmental dysplasia of the hip 1', 'Gout, hprt-related', 'Bartter syndrome, type 5, antenatal, transient', 'Branched-Chain ketoacid dehydrogenase kinase deficiency', 'Pulmonary alveolar proteinosis, acquired', 'Intellectual developmental disorder, X-linked 110', 'Linear skin defects with multiple congenital anomalies 2', 'CHOLANGIOCARCINOMA', 'Mental retardation, X-linked, syndromic 13', 'Mental retardation with optic atrophy, facial dysmorphism, microcephaly,and short stature', 'Wilson-Turner syndrome', 'Spinocerebellar ataxia, X-linked 1', 'Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia', 'Chondrodysplasia punctata 1, X-linked recessive', 'Acquired angioedema', 'Focal dermal hypoplasia', 'Mental retardation, X-linked, syndromic, Nascimento type', 'Mohr-Tranebjaerg syndrome', 'Angel-Shaped phalangoepiphyseal dysplasia', 'Amyotrophy, monomelic', 'Diabetes mellitus, insulin-dependent, 20', 'Mandibulofacial dysostosis with macroblepharon and macrostomia', 'Spinal muscular atrophy, distal, X-linked 3', 'Multiple sclerosis, susceptibility to', 'Hypouricemia, familial renal, due to tubular hypersecretion', 'Centralopathic epilepsy', 'Specific language impairment 1', 'Specific language impairment 2', 'Chromosome 16p12.1 deletion syndrome, 520kb', 'Pancreatic cancer, susceptibility to, 2', 'Diaphragmatic hernia, congenital', 'Perifolliculitis capitis abscedens et suffodiens, familial', 'Bulimia nervosa, susceptibility to, 1', 'Microphthalmia with cyst, bilateral facial clefts, and limb anomalies', 'Alcohol dependence', 'Carney-Stratakis syndrome', 'Leukemia, chronic lymphocytic', 'Hemifacial atrophy, progressive', 'Cubitus valgus with mental retardation and unusual facies', 'Leukemia, acute monocytic', 'B-CELL CLL/LYMPHOMA 2', 'Alopecia areata 1', 'Hypomelanosis of Ito', 'Myopia 7', 'Alar cleft, isolated', 'Renal cell carcinoma, nonpapillary', 'Corpus callosum, partial agenesis of, X-linked', 'Brachydactyly-Syndactyly syndrome', 'Hypothyroidism, central, and testicular enlargement', 'Hydrocephalus due to congenital stenosis of aqueduct of sylvius', 'Wildervanck syndrome', 'Leukemia, acute lymphocytic, susceptibility to, 1', 'Chromosome 22q13 duplication syndrome', 'Mental retardation, X-linked 72', 'Autism, susceptibility to, X-linked 6', 'Scarf syndrome', 'Palatopharyngeal incompetence', 'Carabelli anomaly of maxillary molar teeth', 'Orofacial cleft 10', 'Immunodeficiency 33', 'Corneal dystrophy, fuchs endothelial, 6', 'Androgen insensitivity syndrome', 'Intellectual developmental disorder, X-linked 108', 'Brugada syndrome 8', 'Waisman syndrome', 'Fragile X tremor/ataxia syndrome', 'Helicobacter pylori infection, susceptibility to', 'Developmental and epileptic encephalopathy 8', 'Neurodegeneration with brain iron accumulation 5', 'Gastric cancer, somatic', 'Potocki-Shaffer syndrome', 'Raynaud-Claes syndrome', 'Systemic lupus erythematosus, susceptibility to, 6', 'Scholte syndrome', 'Mental retardation, X-linked, associated with fragile site fraxe', 'Xq21 deletion syndrome', 'Mental retardation, X-linked, syndromic 11', 'Mental retardation, X-linked, syndromic, Hedera type', 'Intellectual developmental disorder, X-linked 30', 'Orofaciodigital syndrome VIII', 'Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance', 'Multiple enchondromatosis, Maffucci type', 'Intellectual developmental disorder, X-linked 82', 'Mental retardation, X-linked 104', 'Polymicrogyria, bilateral perisylvian', 'Arteriovenous malformation of the brain, somatic', 'Shukla-Vernon syndrome', 'Charcot-Marie-Tooth disease, X-linked recessive, 3', 'Appendicitis, proneness to', 'Mental retardation, X-linked 1', 'Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete', 'Chromosome xp11.3 deletion syndrome', 'Keipert syndrome', 'Becker nevus syndrome', 'Cataract, ataxia, short stature, and mental retardation', 'Myopathy, distal, 7, adult-onset, X-linked', 'Hhhh syndrome', 'Spastic paraplegia 2, X-linked', 'Inflammatory bowel disease 13', 'Inflammatory bowel disease 19', 'Torticollis, keloids, cryptorchidism, and renal dysplasia', 'Partington syndrome', 'Dysplasia epiphysealis hemimelica', 'Hirschsprung disease with type D brachydactyly', 'Mental retardation, X-linked 106', 'Epilepsy, X-linked, with variable learning disabilities and behavior disorders', 'Gastric lymphoma, primary', 'Lipoprotein glomerulopathy', 'Tracheoesophageal fistula with or without esophageal atresia', 'Deafness, X-linked 5', 'Follicular lymphoma, susceptibility to, 1', 'Paroxysmal nocturnal hemoglobinuria', 'Nephrolithiasis, type I', 'Retinoschisis 1, X-linked, juvenile', 'Chromosome xp11.23-p11.22 duplication syndrome', 'Celiac disease, epilepsy and cerebral calcification syndrome', 'Mental retardation, X-linked 103', 'Teratocarcinoma-Derived growth factor 1', 'Spastic paraplegia 16, X-linked', 'Woods syndrome', 'Siderius X-linked mental retardation syndrome', 'Mental retardation, X-linked 63', 'Mental retardation, X-linked 84', 'Atrial fibrillation, familial, 5', 'LYMPHANGIOLEIOMYOMATOSIS', 'Breast, unilateral giant', 'Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic', 'Mental retardation, X-linked 93', 'Thumbs, congenital clasped', 'Mental retardation, X-linked 101', 'Keratosis follicularis spinulosa decalvans, X-linked', 'Hydrocephalus, endocardial fibroelastosis, and cataracts', 'Cerebral palsy, spastic quadriplegic, 2', 'Chromosome 10q22.3-q23.2 deletion syndrome', 'Nephrogenic diabetes insipidus - intracranial calcification', 'Cowden syndrome 4', '46XX sex reversal 1', 'Familial scaphocephaly syndrome, Mcgillivray type', 'Mental retardation, X-linked 45', 'Charcot-Marie-Tooth disease, X-linked recessive, 2', 'Facioscapulohumeral muscular dystrophy 3, digenic', 'Mental retardation, X-linked 21', 'Insulinoma tumor suppressor gene locus', 'Sick sinus syndrome 3', 'Maxillonasal dysplasia, Binder type', 'Mental retardation, X-linked 9', 'Hypertrichosis, congenital generalized', 'SCHIZENCEPHALY', 'Autism, susceptibility to, X-linked 4', 'Ciliary dyskinesia, primary, 36, X-linked', 'Cystic fibrosis, modifier of, 1', 'Retinitis pigmentosa, X-linked, and sinorespiratory infections, withor without deafness', 'Hypothyroidism, congenital, nongoitrous, 9', 'Exudative vitreoretinopathy 2, X-linked', 'Reifenstein syndrome', 'Macrodactyly, somatic', 'Metacarpal 4-5 fusion', 'Nance-Horan syndrome', 'Parkinsonism with spasticity, X-linked', 'Mental retardation, X-linked, with or without seizures, arx-related', 'Retinitis pigmentosa 23', 'Atypical mycobacteriosis, familial, X-linked 2', 'Spinocerebellar ataxia, X-linked 5', 'Bazex syndrome', 'Charcot-Marie-Tooth disease, X-linked dominant, 6', 'Spastic paraplegia 34, X-linked', 'Facioscapulohumeral muscular dystrophy 2', 'Immunodeficiency 74, COVID19-related, X-linked', 'Esophageal cancer, somatic', 'Colorectal cancer, susceptibility to, 3', 'Dystonia 3, torsion, X-linked', 'Mental retardation, X-linked 89', 'Mental retardation, X-linked 100', 'Cerebellar degeneration-related autoantigen 3', 'Coats disease', 'Brachydactylous dwarfism, Mseleni type', 'Mental retardation, X-linked 105', 'Myelopathy, htlv-1-associated', 'Chondrosarcoma, extraskeletal myxoid', 'Chondrosarcoma', 'Mental retardation, X-linked 96', 'Intellectual developmental disorder, X-linked 77', 'Norrie disease', 'Osteosarcoma', 'Precocious puberty, central, 2', 'Amelogenesis imperfecta, type IE', 'Prostate cancer/brain cancer susceptibility', 'Arthrogryposis - hyperkeratosis, lethal form', 'Spatial visualization, aptitude for', 'Coxsackievirus B3 susceptibility', 'Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked', 'Premature ovarian failure 2A', 'Tooth agenesis, selective, X-linked, 1', 'Mental retardation, X-linked 23', 'Mental retardation, X-linked 53', 'Mental retardation, X-linked 81', 'Mental retardation, X-linked 46', 'Bornholm eye disease', 'Mental retardation, X-linked 58', 'Deafness, X-linked 7', 'Paget disease, extramammary', 'Autoimmune thyroid disease, susceptibility to, 3', 'Nystagmus, myoclonic', 'Major affective disorder 2', 'Complement component 9 deficiency', 'Melanocytic nevus syndrome, congenital', 'Motion sickness', 'Cognitive function 1, social', 'Premature ovarian failure 6', '46XY sex reversal 3', 'Premature ovarian failure 7', 'Faciomandibular myoclonus, nocturnal', 'Ichthyosis, X-linked', 'Syndromic X-linked intellectual disability 7', 'X-LINKED intellectual disability, Abidi type', 'X-LINKED intellectual disability, Shrimpton type', 'Intellectual disability, Wolff type', 'Facioscapulohumeral muscular dystrophy 4, digenic', 'Radius, aplasia of, with cleft lip/palate', 'Blue cone monochromacy', 'Cone-Rod dystrophy, X-linked, 3', 'Glaucoma - sleep apnea', 'Major depressive disorder', 'Diaphragmatic hernia 3', 'Hernia, anterior diaphragmatic', 'Corneal dystrophy, lisch epithelial', 'Deafness, X-linked 1', '46,xx sex reversal 3', 'Deafness, X-linked 3', 'Goiter, multinodular 2', 'Colorblindness, partial, protan series', 'Ptosis, hereditary congenital 2', 'Macular degeneration, X-linked atrophic', 'Colorblindness, deutan', 'Hypospadias 1, X-linked', 'Hypospadias 2, X-linked', 'Corneal dystrophy, endothelial, X-linked', 'Deafness, X-linked 4', 'Nystagmus 6, congenital, X-linked', 'Deafness, X-linked 6', 'Night blindness, congenital stationary, type 1A', 'Nystagmus 5, congenital, X-linked', 'Azoospermia, obstructive, with nephrolithiasis', 'Deafness, cataract, retinitis pigmentosa, and sperm abnormalities', 'Spermatogenic failure, X-linked 2', 'Myxoid liposarcoma', 'Angioma serpiginosum, X-linked', 'Deafness, X-linked 2', 'Rhabdomyosarcoma 2, alveolar', 'Spermatogenic failure, X-linked, 3', 'MEGALOCORNEA', 'Rhabdomyosarcoma, embryonal, 2', 'Cervical cancer', 'Mesothelioma, malignant', 'Alopecia, androgenetic, 1', 'Ewing sarcoma', 'Histiocytoma, angiomatoid fibrous, somatic', 'Sarcoma, synovial', 'Alveolar soft part sarcoma', 'Nevus comedonicus, somatic', 'Pilomatrixoma, somatic', 'Keratosis, seborrheic, somatic', 'Epidermal nevus, somatic', 'Renal cell carcinoma, xp11-associated', 'Precocious puberty, male', 'Leiomyoma, uterine', 'Vitiligo-Associated multiple autoimmune disease susceptibility 1', 'Preterm premature rupture of the membranes', 'Orofacial cleft 11', 'Macular degeneration, age-related, 7', 'Macular degeneration, age-related, 11', 'Nasopharyngeal carcinoma', 'Focal segmental glomerulosclerosis 4, susceptibility to', 'Preeclampsia/eclampsia 4', 'Nasopharyngeal carcinoma', 'HAIRY EARS, Y-LINKED', 'Hairy nose tip', 'Myopia 8', 'Myopia 9', 'Myopia 10', 'Strabismus, susceptibility to', 'Glaucoma 1, open angle, O', 'Glaucoma 1, open angle, G', 'Emphysema, hereditary pulmonary', 'Pulmonary disease, chronic obstructive', 'Hypertrichosis, anterior cervical', 'RETINITIS PIGMENTOSA, Y-LINKED', 'Basal cell carcinoma, susceptibility to, 1', 'Danubian endemic familial nephropathy', 'Caudal duplication anomaly', 'Testicular microlithiasis', 'Macular degeneration, age-related, 6', 'Familial breast-ovarian cancer-1', 'Natal teeth - intestinal pseudoobstruction - patent ductus', 'Spermatogenic failure 68', 'Microcephaly - albinism - digital anomalies']\n", + "['Lysosomal acid lipase deficiency', 'Interstitial lung and liver disease', 'Hydrops, lactic acidosis, and sideroblastic anemia', 'Bile acid synthesis defect, congenital, 3', 'Triokinase and FMN cyclase deficiency syndrome', 'Mitochondrial DNA depletion syndrome 16 (hepatic type)', 'Galactosemia', 'Immunodeficiency 69, mycobacteriosis', 'Cholestasis, progressive familial intrahepatic, 10', 'Bile acid conjugation defect 1', 'Bile acid synthesis defect, congenital, 1', 'Anemia, congenital dyserythropoietic, type Ia', 'Sea-Blue histiocyte disease', 'Cholestasis, progressive familial intrahepatic, 5', 'Anemia, sideroblastic, 3, pyridoxine-refractory', 'Bile acid synthesis defect, congenital, 2', 'Combined oxidative phosphorylation deficiency 9', 'Bile acid synthesis defect, congenital, 4', 'Combined oxidative phosphorylation deficiency 30', 'Infantile liver failure syndrome 1', 'Tyrosinemia, type I', 'Liver failure, infantile, transient', 'Anemia, dyserythropoietic congenital, type IV', 'Pearson marrow-pancreas syndrome', 'Niemann-Pick disease, type A', 'Citrullinemia, type II, neonatal-onset', 'Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)', 'Mitochondrial complex IV deficiency, nuclear type 4', 'Neutropenia, severe congenital, 5, autosomal recessive', 'Sitosterolemia 1', 'Renal tubular acidosis, distal, with hemolytic anemia', 'Niemann-pick disease, type B', 'Propionic acidemia', 'Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)', 'Sclerosing cholangitis, neonatal', 'Combined oxidative phosphorylation deficiency 34', 'Cholestasis, progressive familial intrahepatic, 3', 'Fanconi-Bickel syndrome', 'Cholestasis, progressive familial intrahepatic, 12', 'Methylmalonic aciduria, vitamin B12-responsive, cblB type', 'Wolman disease', 'Leukocyte adhesion deficiency, type III', 'Bile acid synthesis defect, congenital, 5', 'Mitochondrial complex III deficiency, nuclear type 3', 'Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive', 'Congenital disorder of glycosylation, type Ib', 'Osteopetrosis, autosomal recessive 8', 'Mitochondrial complex III deficiency, nuclear type 10', 'Glycogen storage disease XII', 'Hemophagocytic lymphohistiocytosis, familial, 1', 'Immunodeficiency 27A, mycobacteriosis, AR', 'Omenn syndrome', 'Congenital disorder of glycosylation, type Ih', 'Transaldolase deficiency', 'Hyperbilirubinemia, shunt, primary', 'Immunodeficiency 87 and autoimmunity', 'Congenital disorder of glycosylation, type IIaa', 'Growth retardation, impaired intellectual development, hypotonia, and hepatopathy', 'Heme oxygenase-1 deficiency', 'Wilson disease', 'Anemia, congenital dyserythropoietic, type Ib', 'Thrombocytopenia, anemia, and myelofibrosis', 'Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)', 'Orotic aciduria', 'Cholestasis, progressive familial intrahepatic, 8', 'Hemochromatosis, neonatal', 'Combined oxidative phosphorylation deficiency 19', 'Anemia, dyserythropoietic congenital, type III', 'Congenital disorder of glycosylation, type IIO', 'Combined oxidative phosphorylation deficiency 16', 'Thalassemia-beta, dominant inclusion-body', 'Phosphoenolpyruvate carboxykinase deficiency, cytosolic', 'Osteootohepatoenteric syndrome', 'Autoinflammation with infantile enterocolitis', 'Erythroleukemia, familial, susceptibility to', 'Congenital disorder of glycosylation, type IIK', 'Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy', 'Cholestasis, progressive familial intrahepatic 1', 'Hypertriglyceridemia, transient infantile', 'Bleeding disorder, platelet-type, 16', 'Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome', 'Letterer-Siwe disease', 'Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis', 'Anemia, hypochromic microcytic, with iron overload 2', 'Hemophagocytic lymphohistiocytosis, familial, 2', 'Methylmalonic aciduria, vitamin B12-responsive, cblA type', 'Dehydrated hereditary stomatocytosis 2', 'Lecithin:cholesterol acyltransferase deficiency', 'Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss', 'Immunodeficiency 47', 'Ghosal hematodiaphyseal dysplasia', 'Hemophagocytic lymphohistiocytosis, familial, 4', 'Spherocytosis, type 5', 'Hemolytic anemia, nonspherocytic, due to hexokinase deficiency', 'Anemia, X-linked, with or without neutropenia and/or platelet abnormalities', 'Lysinuric protein intolerance', 'Rajab interstitial lung disease with brain calcifications', 'Hemophagocytic lymphohistiocytosis, familial, 5', 'Glycogen storage disease IV', 'HMG-CoA synthase-2 deficiency', 'Hypobetalipoproteinemia, familial, 1', 'Mitochondrial complex I deficiency, nuclear type 11', 'Osteopetrosis, autosomal recessive 1', 'Combined oxidative phosphorylation deficiency 42', 'Combined oxidative phosphorylation deficiency 40', 'Osteopetrosis, autosomal recessive 4', 'Gallbladder disease 1', 'Cholestasis-Lymphedema syndrome', 'Hemolytic anemia due to glutathione synthetase deficiency', 'Combined oxidative phosphorylation deficiency 12', 'Anemia, dyserythropoietic congenital, type II', 'Glycogen storage disease IXc', 'Cholestasis, progressive familial intrahepatic, 6', 'Mitochondrial complex III deficiency, nuclear type 6', 'Reticuloendotheliosis, X-linked', 'Glycogen storage disease VI', 'Majeed syndrome', 'Combined oxidative phosphorylation deficiency 52', 'Proteasome-Associated autoinflammatory syndrome 3', 'Congenital disorder of glycosylation, type IIP', 'Polyglucosan body myopathy 1 with or without immunodeficiency', 'Focal segmental glomerulosclerosis 1', 'Cholestasis, progressive familial intrahepatic 2', 'Bleeding disorder, platelet-type, 19', 'Bleeding disorder, platelet-type, 17', 'Citrullinemia, type II, adult-onset', 'Amegakaryocytic thrombocytopenia, congenital, 2', 'Immunodeficiency 46', 'Congenital disorder of glycosylation, type IIw', 'Juvenile polyposis syndrome', 'Gaucher disease, atypical', 'Mitochondrial trifunctional protein deficiency', 'Hyperlipoproteinemia, type ID', 'Bile acid malabsorption, primary, 2', 'Osteopetrosis, autosomal recessive 3', 'Cholestasis, progressive familial intrahepatic, 11', 'Pyridoxamine 5-prime-phosphate oxidase deficiency', 'Hyperbiliverdinemia', 'Portal hypertension, noncirrhotic, 2', 'Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency', 'Protoporphyria, erythropoietic, 1', 'Prolidase deficiency', '3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency', 'Hypermethioninemia due to adenosine kinase deficiency', 'Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase', 'Monosomy 7 myelodysplasia and leukemia syndrome 2', 'Polycythemia vera', 'Immunodeficiency 22', 'Fanconi anemia, complementation group V', 'Osteopetrosis, autosomal recessive 5', 'Mitochondrial complex III deficiency, nuclear type 1', 'Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations', 'Cholestasis, intrahepatic, of pregnancy 3', 'Immunodeficiency 40', 'Infantile liver failure syndrome 3', 'Carnitine palmitoyltransferase I deficiency', 'Argininosuccinic aciduria', 'Lymphoproliferative syndrome 1', 'Hemochromatosis, type 2B', 'Thrombocytopenia 6', 'Isovaleric acidemia', 'Pyogenic sterile arthritis, pyoderma gangrenosum, and acne', 'Anemia, hypochromic microcytic, with iron overload 1', 'Spherocytosis, type 2', 'Thanatophoric dysplasia, glasgow variant', 'Combined oxidative phosphorylation deficiency 37', 'Diarrhea 13', 'Fructose intolerance, hereditary', 'Mitochondrial complex I deficiency, nuclear type 20', 'Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2', 'Autoinflammatory-pancytopenia syndrome', 'Mitochondrial complex III deficiency, nuclear type 5', 'Cyanosis, transient neonatal', 'Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7', 'Combined oxidative phosphorylation deficiency 14', 'Arthrogryposis, renal dysfunction, and cholestasis 1', 'Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young', 'Osteopetrosis, autosomal recessive 2', 'Overhydrated hereditary stomatocytosis', 'Carnitine deficiency, systemic primary', 'Fumarase deficiency', 'Combined low LDL and fibrinogen', 'Gaucher disease, type I', 'Osteopetrosis, autosomal dominant 3', 'Hemochromatosis, type 4', 'Elliptocytosis 1', 'Werner syndrome', 'Pyruvate kinase deficiency of red cells', '3-methylglutaconic aciduria, type V', 'Hemophagocytic lymphohistiocytosis, familial, 3', 'Mevalonic aciduria', 'Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia', 'Hyperparathyroidism, neonatal severe', 'Cardiomyopathy, familial restrictive, 6', 'Mitochondrial complex IV deficiency, nuclear type 3', 'Thrombotic thrombocytopenic purpura, hereditary', 'Anemia, sideroblastic, 2, pyridoxine-refractory', 'Lymphoproliferative syndrome, X-linked, 1', 'Mitochondrial complex IV deficiency, nuclear type 1', 'ATRANSFERRINEMIA', 'Gray platelet syndrome', 'Niemann-pick disease, type C1', 'Immunodeficiency 91 and hyperinflammation', 'Gaucher disease, type III', 'Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema', 'Dyserythropoiesis, congenital, with ultrastructurally normal erythroblastheterochromatin', 'Spherocytosis, type 1', 'Liver disease, severe congenital', 'Anemia, sideroblastic, 5', 'Transcobalamin II deficiency', 'Stormorken syndrome', 'Copper deficiency, familial benign', 'Seckel syndrome 10', 'Spherocytosis, type 4', 'Combined oxidative phosphorylation deficiency 41', 'Hemochromatosis, type 5', 'Trichohepatoenteric syndrome 1', 'Hardikar syndrome', 'Mitochondrial DNA depletion syndrome 4A (Alpers type)', 'Autoinflammation with episodic fever and lymphadenopathy', 'Cholestasis, intrahepatic, of pregnancy, 1', 'Cholestasis, progressive familial intrahepatic, 9', 'Aicardi-Goutieres syndrome 9', 'Methylmalonic aciduria and homocystinuria, Cblf type', 'Congenital disorder of glycosylation, type IIl', 'T-cell lymphoma, subcutaneous panniculitis-like', 'Celiac disease, susceptibility to, 1', 'Splenoportal vascular anomalies', 'Glycogen storage disease Ia', 'Megaloblastic anemia due to dihydrofolate reductase deficiency', 'Abdominal obesity-metabolic syndrome 4', 'Combined oxidative phosphorylation deficiency 10', 'Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency', 'Trimethylaminuria', 'Thrombocytopenia 5', 'Erythrocytosis, familial, 8', 'Osteopetrosis, autosomal recessive 9', 'Thrombocytopenia with beta-thalassemia, X-linked', 'Proteasome-associated autoinflammatory syndrome 5', 'Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A', 'Mcleod syndrome', 'Shwachman-Diamond syndrome 1', 'Sickle cell anemia', 'Medium chain 3-ketoacyl-coa thiolase deficiency', 'Peroxisome biogenesis disorder 8A (Zellweger)', 'Hypermanganesemia with dystonia 1', 'Lymphoproliferative syndrome 2', 'Phosphoenolpyruvate carboxykinase 2, mitochondrial', 'Hepatitis, fulminant viral, susceptibility to', 'Congenital disorder of glycosylation, type IR', 'Dihydropyrimidinuria', 'Distal renal tubular acidosis 3, with or without sensorineural hearing loss', 'RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic', 'Lymphatic malformation 7', 'Dihydrolipoamide dehydrogenase deficiency', 'Congenital disorder of glycosylation, type It', 'Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1', 'Diamond-Blackfan anemia 16', 'Fibrosis, neurodegeneration, and cerebral angiomatosis', 'Fanconi anemia, complementation group T', 'Bone marrow failure syndrome 6', 'Neuroblastoma, susceptibility to', 'Combined oxidative phosphorylation deficiency 36', 'Mitochondrial trifunctional protein deficiency 2', 'Biliary, renal, neurologic, and skeletal syndrome', 'Congenital disorder of glycosylation, type IIj', 'Autoimmune lymphoproliferative syndrome, type III', 'Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome', 'Cirrhosis, familial', 'Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss', 'Dyskeratosis congenita, autosomal dominant, 1', 'Anemia, sideroblastic, autosomal dominant', 'Glucose/galactose malabsorption', 'Hemochromatosis, type 1', 'Bone marrow failure syndrome 2', 'Diarrhea 7, protein-losing Enteropathy type', 'Neutropenia, severe congenital, 4, autosomal recessive', 'Iron-Refractory iron deficiency anemia', 'Bernard-Soulier syndrome, type A2, autosomal dominant', 'Chylomicron retention disease', 'Immunodeficiency 98 with autoinflammation, X-linked', 'Immunodeficiency 44', 'Myopathy, lactic acidosis, and sideroblastic anemia 2', 'Neutropenia, severe congenital, 1, autosomal dominant', 'Gaucher disease, type II', 'Cryohydrocytosis', 'Dyskeratosis congenita, autosomal dominant 2', 'Harderoporphyria', 'Specific granule deficiency 2', 'Platelet glycoprotein IV deficiency', 'Gaucher disease, perinatal lethal', 'Immunodeficiency 97 with autoinflammation', 'Eosinophilia, familial', 'Rajab interstitial lung disease with brain calcifications 2', 'Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency', 'Pyloric stenosis, infantile hypertrophic 1', 'Triosephosphate isomerase deficiency', 'Cholestasis, benign recurrent intrahepatic, 2', 'Radioulnar synostosis with amegakaryocytic thrombocytopenia 2', 'Type I hyperlipoproteinemia', 'Intrinsic factor deficiency', 'Hemolytic uremic syndrome, atypical, susceptibility to, 4', 'Morbid obesity and spermatogenic failure', 'Hemolytic uremic syndrome, atypical, susceptibility to, 2', 'Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1', 'Bleeding disorder, platelet-type, 24, autosomal dominant', 'Diamond-Blackfan anemia 19', 'Immunodeficiency 82 with systemic inflammation', 'Mitchell-Riley syndrome', 'Porphyria, congenital erythropoietic', 'Thrombocytopenia 9', 'Gilbert syndrome', 'Glycogen storage disease type IXb', 'Citrullinemia, classic', 'Combined oxidative phosphorylation deficiency 1', 'Mitochondrial complex I deficiency, nuclear type 39', 'Diabetes mellitus, permanent neonatal 4', 'Hemolytic anemia, G6PD deficient (favism)', 'Autoinflammation with pulmonary and cutaneous vasculitis', 'Shwachman-Diamond syndrome 2', 'Developmental and epileptic encephalopathy 50', 'Glutaric aciduria III', 'Glycogen storage disease Ib', 'Red cell phospholipid defect with hemolysis', 'Analbuminemia', 'Rh-null disease, amorph type', 'Hemolytic uremic syndrome, atypical, susceptibility to, 6', 'Anemia, nonspherocytic hemolytic, possibly due to defect in porphyrinmetabolism', 'Patent ductus venosus', 'Enterokinase deficiency', 'Galactose epimerase deficiency', 'Johanson-Blizzard syndrome', 'Platelet disorder, undefined', 'Transient erythroblastopenia of childhood', 'Bleeding disorder, platelet-type, 21', 'Cholestasis, progressive familial intrahepatic 4', 'Congenital disorder of glycosylation, type IIr', 'Nephronophthisis 19', 'Methylmalonic aciduria and homocystinuria, Cblj type', 'Corticosteroid-binding globulin deficiency', 'Aplasia cutis congenita with intestinal lymphangiectasia', 'Immunodeficiency 56', 'Thrombocytopenic purpura, autoimmune', 'Bernard-Soulier syndrome', 'Lipodystrophy, congenital generalized, type 3', 'Mitochondrial complex IV deficiency, nuclear type 12', 'Mitochondrial myopathy, infantile, transient', 'Peroxisome biogenesis disorder 13A (Zellweger)', 'Lipodystrophy, congenital generalized, type 4', '3-hydroxyisobutyric aciduria', 'Platelet signal processing defect', 'Pseudo-Torch syndrome 2', 'Inflammatory bowel disease (infantile ulcerative colitis) 31', 'Ornithine transcarbamylase deficiency, hyperammonemia due to', 'Short-Rib thoracic dysplasia 10 with or without polydactyly', 'Pseudohypoaldosteronism, type I, autosomal dominant', 'Diarrhea 1, secretory chloride, congenital', 'Fanconi renotubular syndrome 1', 'Acyl-Coa dehydrogenase, medium-chain, deficiency of', 'Hyperzincemia with functional zinc depletion', 'Agammaglobulinemia 8B, autosomal recessive', 'Diarrhea 12, with microvillus atrophy', 'Infantile sialic acid storage disease', 'Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked', 'Myopathy, lactic acidosis, and sideroblastic anemia 1', 'Wolfram syndrome, mitochondrial form', 'Thrombocytopenia with elevated serum IgA and renal disease', 'Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis', 'Polycystic liver disease 1 with or without kidney cysts', 'Immunodeficiency 48', 'Acetophenetidin sensitivity', 'Ceroid storage disease', 'von Willebrand disease, type 3', 'Dohle bodies and leukemia', 'Hemochromatosis, type 3', 'Amegakaryocytic thrombocytopenia, congenital', 'Thrombocythemia 1', 'Interleukin 1 receptor antagonist deficiency', 'Neutrophilia, hereditary', '3-Hydroxyacyl-Coa dehydrogenase deficiency', 'Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis', 'Pseudohypoaldosteronism, type I, autosomal recessive', 'Hemolytic uremic syndrome, atypical, susceptibility to, 3', 'Anemia, hemolytic, Rh-null, Regulator type', 'Congenital disorder of glycosylation, type IIe', 'Ovalocytosis, hereditary hemolytic, with defective erythropoiesis', 'Diamond-Blackfan anemia 12', 'Prekallikrein deficiency', 'Immunodeficiency 64', 'Hemolytic uremic syndrome, atypical, susceptibility to, 1', 'Thrombocytopenia 10', 'Aicardi-Goutieres syndrome 4', 'Immunodeficiency 7, TCR-alpha/beta deficient', 'Renal-Hepatic-Pancreatic dysplasia 2', 'Farber lipogranulomatosis', 'Cinca syndrome', 'Glycosylphosphatidylinositol deficiency', 'Apparent mineralocorticoid excess', 'Immunodeficiency 52', 'Combined oxidative phosphorylation deficiency 47', 'Amino aciduria with mental deficiency, dwarfism, muscular dystrophy,osteoporosis, and acidosis', 'Congenital disorder of glycosylation, type IID', 'Mitochondrial complex I deficiency, nuclear type 32', 'Diamond-Blackfan anemia 3', 'Phosphoglycerate dehydrogenase deficiency', 'Bone marrow failure syndrome 4', 'Combined malonic and methylmalonic aciduria', 'Hyperammonemia due to carbonic anhydrase VA deficiency', 'Lymphoproliferative syndrome, X-linked, 2', 'Galactosialidosis', 'Peroxisome biogenesis disorder 3B', 'Pseudo-Torch syndrome 3', 'Diarrhea 4, malabsorptive, congenital', 'Diamond-Blackfan anemia 18', 'Congenital short bowel syndrome', 'Infantile liver failure syndrome 2', 'Carnitine palmitoyltransferase II deficiency, infantile', 'Homocystinuria-megaloblastic anemia, cblg Complementation type', 'Band-Like calcification with simplified gyration and polymicrogyria', 'Methylmalonyl-Coa epimerase deficiency', 'Ataxia-Pancytopenia syndrome', 'Lactase deficiency, congenital', 'Asplenia, isolated congenital', 'Autoinflammation with arthritis and dyskeratosis', 'Renal tubulopathy, diabetes mellitus, and cerebellar ataxia', 'Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification', 'Niemann-pick disease, type C2', 'Immunodeficiency 63 with lymphoproliferation and autoimmunity', 'Mitochondrial complex I deficiency, nuclear type 13', 'Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay', 'Hemoglobin-Delta locus', 'Arthrogryposis, renal dysfunction, and cholestasis 2', 'Autoimmune lymphoproliferative syndrome', 'Blue rubber bleb nevus', 'Homocystinuria-megaloblastic anemia, cbl E type', 'Dyskeratosis congenita, autosomal dominant 3', 'Reynolds syndrome', 'Combined oxidative phosphorylation deficiency 4', 'Coenzyme Q10 deficiency, primary, 3', 'Autoimmune lymphoproliferative syndrome, type IIA', 'Megaloblastic anemia, folate-responsive', 'Apolipoprotein C-II deficiency', 'Erythroderma, lethal congenital', 'Methylmalonic aciduria and homocystinuria, Cblc type', 'Diarrhea 10, protein-losing enteropathy type', 'B-cell expansion with NFKB and T-cell anergy', 'Pancreatitis, hereditary', 'Hypercholanemia, familial', '3-Methylcrotonyl-CoA carboxylase 2 deficiency', 'Axial osteomalacia', 'Aicardi-Goutieres syndrome 6', 'Combined oxidative phosphorylation deficiency 43', 'Camurati-Engelmann disease', 'Thrombocytopenia, X-linked, with or without dyserythropoietic anemia', 'Hemangioma-Thrombocytopenia syndrome', 'Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome', 'Combined oxidative phosphorylation deficiency 8', 'Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemiadue to', 'Retinitis pigmentosa and erythrocytic microcytosis', 'Mitochondrial complex III deficiency, nuclear type 9', 'Diamond-Blackfan anemia 20', 'Porphyria, acute hepatic', 'Leukoencephalopathy, progressive, infantile-onset, with or without deafness', 'Glutaric acidemia I', 'Folate malabsorption, hereditary', 'Mitochondrial complex I deficiency, nuclear type 25', 'Periodic fever, immunodeficiency, and thrombocytopenia syndrome', 'Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to', 'Aicardi-Goutieres syndrome 7', 'Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)', 'Immunodeficiency 16', 'Combined oxidative phosphorylation deficiency 23', 'Combined oxidative phosphorylation deficiency 18', 'Storage pool platelet disease', 'Glutathione synthetase deficiency', 'Renal-hepatic-pancreatic dysplasia 1', 'Bile acid synthesis defect, congenital, 6', 'Coronary artery disease, autosomal dominant 2', 'Myeloperoxidase deficiency', 'Dyskeratosis congenita, autosomal recessive, 2', 'Methemoglobinemia due to deficiency of methemoglobin reductase', 'Osteopetrosis, autosomal recessive 7', 'Neutropenia, severe congenital, 6, autosomal recessive', 'Holocarboxylase synthetase deficiency', 'Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige', 'Inflammatory bowel disease, immunodeficiency, and encephalopathy', 'Cerebroretinal microangiopathy with calcifications and cysts 2', 'Hypophosphatasia, adult', 'Gracile syndrome', 'Factor XI deficiency', 'Hemolytic uremic syndrome, atypical, susceptibility to, 5', 'Epilepsy, progressive myoclonic, 4, with or without renal failure', 'Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4', 'Combined oxidative phosphorylation deficiency 53', 'Diabetes mellitus, permanent neonatal 1', 'Erythrocytosis 6', 'Chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome', 'Elliptocytosis-3', 'Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia', 'Tangier disease', 'Isobutyryl-CoA dehydrogenase deficiency', 'Mitochondrial complex III deficiency, nuclear type 11', 'AMED syndrome, digenic', 'Osteosclerotic metaphyseal dysplasia', 'Amyloidosis, familial visceral', 'Congenital disorder of glycosylation, type IIh', 'Coenzyme Q10 deficiency, primary, 1', 'Lipoyltransferase 1 deficiency', 'Orthostatic hypotension 2', 'Hypophosphatasia, infantile', 'SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA ANDREDUCED CIRCULATING T-HELPER CELLS', 'Chylomicronemia, familial, due to circulating inhibitor of lipoproteinlipase', 'Hypophosphatemic rickets, autosomal dominant', 'Kenny-caffey syndrome, type 2', 'Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome', 'Alagille syndrome 2', 'Glycogen storage disease VII', 'Dyskeratosis congenita, autosomal recessive 1', 'Argininemia', 'Mitochondrial DNA depletion syndrome 17', 'Mitochondrial complex IV deficiency, nuclear type 20', 'Premature aging syndrome, Okamoto type', 'Acrodermatitis enteropathica, Zinc-Deficiency type', '3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome', 'Myopathy with exercise intolerance, Swedish type', 'Bone marrow failure syndrome 3', 'Chronic granulomatous disease 5, autosomal recessive', 'Ichthyosiform erythroderma, corneal involvement, and deafness', 'Hyperlipoproteinemia, type V', 'Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay', 'Bare lymphocyte syndrome, type II', 'Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy', 'Fanconi anemia, complementation group G', 'Immunodeficiency, common variable, 8, with autoimmunity', 'Macrocytosis, familial', 'THIOPURINE S-METHYLTRANSFERASE DEFICIENCY', 'Autoinflammation, immune dysregulation, and eosinophilia', '5-@oxoprolinase deficiency', 'Riboflavin deficiency', 'Diamond-Blackfan anemia-like', 'Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)', 'Immune defect due to absence of thymus', 'Hemoglobin H disease', 'Immunodeficiency 92', 'Erythrocytosis, familial, 5', 'Erythrocytosis 7', 'Chronic atrial and intestinal dysrhythmia', 'Microcephaly, Amish type', 'Wt limb-blood syndrome', 'Glycogen storage disease Ic', 'Nephrotic syndrome, type 7', 'Forsythe-Wakeling syndrome', 'Diamond-Blackfan anemia 4', 'Blue diaper syndrome', 'Diamond-Blackfan anemia 17', 'Diamond-Blackfan anemia 6', 'Stomatin-deficient cryohydrocytosis with neurologic defects', 'Fanconi anemia, complementation group E', 'NEPHROSIALIDOSIS', 'Pyruvate carboxylase deficiency', 'Hypervalinemia or hyperleucine-isoleucinemia', 'Myelodysplasia and leukemia syndrome with monosomy 7', 'Mirage syndrome', 'Cardiofaciocutaneous syndrome 3', 'Gracile bone dysplasia', 'Adenosine triphosphate, elevated, of erythrocytes', 'Fanconi renotubular syndrome 3', 'Bleeding disorder, platelet-type, 15', 'Immunodeficiency 54', 'Combined oxidative phosphorylation deficiency 11', 'Mitochondrial complex IV deficiency, nuclear type 10', 'Peroxisome biogenesis disorder 5A (Zellweger)', 'Plasminogen activator inhibitor-1 deficiency', 'Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency', 'Immunodeficiency, X-linked, with hyper-IgM', 'Neuraminidase deficiency', 'Mitochondrial complex I deficiency, nuclear type 29', 'Polycystic kidney disease 3', 'N-acetylglutamate synthase deficiency', '3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia', 'Pituitary adenoma 4, ACTH-secreting, somatic', 'Glycogen storage disease, type IXa1', 'Immunodeficiency 105, severe combined', 'Sucrase-isomaltase deficiency, congenital', 'Fallot complex with severe mental and growth retardation', 'Chediak-Higashi syndrome', 'Athrombia, essential', 'DUBIN-JOHNSON syndrome', 'Vascular malformation, primary intraosseous', 'Combined oxidative phosphorylation deficiency 17', 'Mitochondrial complex IV deficiency, nuclear type 22', 'Lipodystrophy, familial partial, type 5', 'Myopathy, distal, Tateyama type', 'Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to', 'Meckel syndrome, type 7', 'Combined oxidative phosphorylation deficiency 2', 'Combined oxidative phosphorylation deficiency 31', 'Calvarial doughnut lesions with bone fragility', 'Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive', 'Fanconi anemia', 'Preeclampsia/eclampsia 1', 'Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation', 'Diamond-Blackfan anemia 7', 'Autoinflammation, panniculitis, and dermatosis syndrome', 'Thrombocytopenia 2', 'Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)', 'Fanconi anemia, complementation group F', 'Nephrotic syndrome, type 1', 'Chanarin-Dorfman syndrome', 'Diabetes mellitus, neonatal, with congenital hypothyroidism', 'Porphyria cutanea tarda', '3-Methylcrotonyl-CoA carboxylase 1 deficiency', 'Immunodeficiency 31C', 'Combined oxidative phosphorylation deficiency 48', 'Hyperchlorhidrosis, isolated', 'Combined oxidative phosphorylation deficiency 46', 'Cystic fibrosis', 'Autoimmune polyendocrine syndrome, type II', 'COACH syndrome 3', 'Hawkinsinuria', 'Arteriosclerosis, severe juvenile', 'Elliptocytosis 2', 'Mitochondrial complex I deficiency, nuclear type 7', 'Fanconi anemia, complementation group D1', 'Congenital disorder of glycosylation, type Ix', 'STING-associated vasculopathy, infantile-onset', 'Autoimmune lymphoproliferative syndrome, type V', 'Fanconi anemia, complementation group C', 'Sengers syndrome', 'Mitochondrial complex III deficiency, nuclear type 7', 'Immunodeficiency 21', 'Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly', 'Immunoosseous dysplasia, Schimke type', 'Microcephaly, congenital cataract, and psoriasiform dermatitis', 'Bleeding disorder, platelet-type, 25', 'Malignant hyperthermia, susceptibility to, 1', 'Hypophosphatemic bone disease', 'Fructose-1,6-bisphosphatase deficiency', 'Hutchinson-Gilford progeria syndrome', 'Erythrocytosis, familial, 1', 'Autoinflammatory syndrome, familial, with or without immunodeficiency', 'Severe combined immunodeficiency with sensitivity to ionizing radiation', 'PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS', 'Platelet disorder, familial, with associated myeloid malignancy', 'ACERULOPLASMINEMIA', 'Thrombocytopenia 4', 'Biliary atresia, extrahepatic', 'Agammaglobulinemia 9, autosomal recessive', 'Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2', 'Proteasome-associated autoinflammatory syndrome 4', 'Ectodermal dysplasia and immunodeficiency 2', 'Malonyl-CoA decarboxylase deficiency', 'Coenzyme Q10 deficiency, primary, 2', 'Kearns-Sayre syndrome', 'Hypercholanemia, familial 2', 'Mitochondrial DNA depletion syndrome 18', 'Lipodystrophy, familial partial, type 3', 'Congenital disorder of glycosylation, type Ia', 'Lymphoproliferative syndrome 3', 'Diamond-Blackfan anemia 9', 'Thrombophilia due to protein S deficiency, autosomal recessive', 'Von willebrand disease, type 2', 'Mitochondrial complex I deficiency, nuclear type 6', 'Mitochondrial complex IV deficiency, nuclear type 7', 'Mitochondrial complex IV deficiency, nuclear type 13', 'Von willebrand disease, X-linked form', 'Combined oxidative phosphorylation deficiency 55', 'Mitochondrial DNA depletion syndrome 19', 'Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia', 'Familial apolipoprotein gene cluster deletion syndrome', 'Meckel syndrome 3', 'Hyaline fibromatosis syndrome', 'Pseudo-Von willebrand disease', 'Encephalopathy, ethylmalonic', 'Pseudohypoaldosteronism, type IIE', 'Autoinflammatory syndrome, familial, X-linked, Behcet-like 2', 'Corticosterone methyloxidase type I deficiency', 'Nephronophthisis 11', 'HDL deficiency, familial, 1', 'Renal tubular acidosis III', 'Pseudohypoaldosteronism, type IIC', 'Combined oxidative phosphorylation deficiency 5', 'Nephronophthisis 16', 'Pancreatic and cerebellar agenesis', 'Mucopolysaccharidosis-Plus syndrome', 'Tatsumi factor deficiency', 'Splenomegaly, cytopenia, and vision loss', 'Hypophosphatemic rickets, autosomal recessive', 'Factor V deficiency', 'Oslam syndrome', 'Immunodeficiency 41 with lymphoproliferation and autoimmunity', 'Mitochondrial complex I deficiency, nuclear type 1', '3-methylglutaconic aciduria, type VIII', 'Homozygous 11p15-p14 deletion syndrome', 'Epiphyseal chondrodysplasia, Miura type', 'D-bifunctional protein deficiency', 'Acetyl-CoA carboxylase deficiency', 'GM1-gangliosidosis, type II', 'Lipodystrophy, familial partial, type 2', 'Atelis syndrome 2', 'Congenital disorder of glycosylation, type Ic', 'Diabetes mellitus, ketosis-prone', 'Renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies', 'Pyropoikilocytosis, hereditary', 'Senior-Loken syndrome 9', 'Neutrophilic dermatosis, acute febrile', 'Peroxisome biogenesis disorder 6A (Zellweger)', 'Erythrocytosis, familial, 4', 'Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria', 'Bleeding disorder, platelet-type, 8', 'Diabetes insipidus, nephrogenic, 2', 'Autoimmune lymphoproliferative syndrome, type IIB', 'Thiamine-Responsive megaloblastic anemia syndrome', 'Renal tubular acidosis, proximal', 'Mitochondrial complex I deficiency, nuclear type 5', 'Body mass index quantitative trait locus 20', 'Hypercholesterolemia, autosomal recessive', 'Spinocerebellar ataxia, autosomal recessive 21', 'Portal hypertension, noncirrhotic', 'Congenital disorder of glycosylation, type Il', 'Immunodeficiency 94 with autoinflammation and dysmorphic facies', 'Hemochromatosis, type 2A', 'Primordial dwarfism-immunodeficiency-lipodystrophy syndrome', 'Thrombocythemia 3', 'Bartter syndrome, type 1, antenatal', 'Glanzmann thrombasthenia 2', 'Giant platelet syndrome with thrombocytopenia', 'Diamond-Blackfan anemia 1', 'Homocystinuria due to cystathionine beta-synthase deficiency', 'Mitochondrial pyruvate carrier deficiency', 'Coumarin resistance', 'Leukocyte nuclear appendages, hereditary prevalence of', 'Giant neutrophil leukocytes', 'Hemopoietic proliferation', 'Car factor deficiency', 'Antithrombin, familial hemorrhagic diathesis due to', 'Platelet factor 3 deficiency', 'Pechet factor deficiency', 'HYPERHEPARINEMIA', 'Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency', 'Thrombocythemia 2', 'Mitochondrial phosphate carrier deficiency', 'Glanzmann thrombasthenia', 'Congenital disorder of glycosylation, type IIB', 'Cystinosis, nephropathic', 'Cryoglobulinemia, familial mixed', 'Intrinsic factor and R binder, combined congenital deficiency of', 'Immunodeficiency 60', 'Combined oxidative phosphorylation deficiency 38', 'Fish-Eye disease', 'Mitochondrial complex I deficiency, nuclear type 34', 'Diamond-Blackfan anemia 5', 'Carnitine palmitoyltransferase II deficiency, lethal neonatal', 'Short stature with microcephaly and distinctive facies', 'Mitochondrial complex IV deficiency, nuclear type 6', 'Cerebroretinal microangiopathy with calcifications and cysts 1', 'Gaucher disease, type IIIC', 'Diarrhea 9', 'Anemia, sideroblastic, X-linked', 'Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)', 'Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II', 'Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I', 'Thrombocytopenia 3', 'Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature', 'Mitochondrial complex I deficiency, nuclear type 35', 'Hypothyroidism, congenital, nongoitrous, 6', 'Proteasome-associated autoinflammatory syndrome 1 and digenic forms', 'Fabry disease', 'Pancreatic beta cell agenesis with neonatal diabetes mellitus', 'Malignant hyperthermia, susceptibility to, 4', 'Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive', 'Pseudohypoaldosteronism, type IB3, autosomal recessive', 'Cardiac valvular defect, developmental', 'Immunodeficiency due to purine nucleoside phosphorylase deficiency', 'Erythrocytosis, familial, 2', 'Hypertriglyceridemia 2', 'Epileptic encephalopathy, early infantile, 82', 'Lymphedema, hereditary, III', 'Bartter syndrome, type 2', 'Polycystic kidney disease 2', 'Diamond-Blackfan anemia 8', 'Radioulnar synostosis with amegakaryocytic thrombocytopenia', 'Mitochondrial complex III deficiency, nuclear type 8', 'Lymphangiectasia, intestinal', 'Autoinflammatory syndrome, familial, Behcet-like', 'Factor VIII deficiency', 'Pancreatic agenesis and congenital heart defects', 'Scott syndrome', 'Diamond-Blackfan anemia 13', 'Hypophosphatemic rickets, autosomal recessive, 2', 'Krabbe disease', 'Fanconi anemia, complementation group R', 'Peroxisome biogenesis disorder 4B', 'Tubulointerstitial kidney disease, autosomal dominant, 4', 'Atherosclerosis susceptibility', 'Primary release disorder of platelets', 'Nephrolithiasis/osteoporosis, hypophosphatemic, 2', 'Immunodeficiency, common variable, 2', 'GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE', 'Microcephaly, epilepsy, and diabetes syndrome 2', 'Hypogonadotropic hypogonadism 18 with or without anosmia', 'Multiple acyl-CoA-dehydrogenase deficiency', 'Thrombocytopenia, Paris-Trousseau type', 'Trichohepatoenteric syndrome 2', 'Mitochondrial complex I deficiency, nuclear type 3', 'Hypokalemic alkalosis, familial, with specific renal tubulopathy', 'Hatipoglu immunodeficiency syndrome', 'Paget disease of bone 5, juvenile-onset', 'Diabetes mellitus, transient neonatal, 1', 'Noonan syndrome 1', 'Diamond-Blackfan anemia 21', 'Combined oxidative phosphorylation deficiency 28', 'Chromosome 5q deletion syndrome', 'Phenformin 4-hydroxylation', 'Cholestasis, benign recurrent intrahepatic 1', 'Glut1 deficiency syndrome 2', 'Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included', 'Coenzyme Q10 deficiency, primary, 5', 'Combined oxidative phosphorylation deficiency 13', 'Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction', 'ABETALIPOPROTEINEMIA', 'Edinburgh malformation syndrome', 'Tubulointerstitial kidney disease, autosomal dominant, 5', 'Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal', 'Thrombophilia due to histidine-rich glycoprotein deficiency', 'Platelet-Activating factor acetylhydrolase deficiency', 'Sulfhemoglobinemia, congenital', 'Vitamin d-dependent rickets, type 3', 'Glycerol kinase deficiency', 'Prune belly syndrome with pulmonic stenosis, mental retardation, anddeafness', 'Telangiectasia, hereditary hemorrhagic, type 2', 'Hyperostosis corticalis generalisata', 'Factor V and factor VIII, combined deficiency of, with normal proteinc and protein C inhibitor', 'Factor V and factor VIII, combined deficiency of', 'Wolfram syndrome 1', 'Systemic lupus erythematosus', 'Fanconi anemia, complementation group D2', 'Combined oxidative phosphorylation deficiency 3', 'Proteasome-Associated autoinflammatory syndrome 2', 'Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis', 'Cardiomyopathy, familial hypertrophic, 4', 'Spastic paraplegia and Evans syndrome', 'Nephronophthisis 1', 'Inflammatory skin and bowel disease, neonatal, 2', 'Acth deficiency, isolated', 'Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss', 'Gastrointestinal ulceration, recurrent, with dysfunctional platelets', 'Immunodeficiency 80 with or without cardiomyopathy', 'Combined oxidative phosphorylation deficiency 21', 'Methylmalonic aciduria and homocystinuria, Cbld type', 'Nephrolithiasis/osteoporosis, hypophosphatemic, 1', 'Juvenile arthritis', 'Camurati-engelmann disease, type 2', 'Pseudohypoaldosteronism, type II', 'Vitamin D hydroxylation-deficient rickets, type 1B', 'Biotinidase deficiencymultiple carboxylase deficiency, late-onset', 'Diarrhea 5, with tufting enteropathy, congenital', 'Monocarboxylate transporter 1 deficiency', 'Multiple mitochondrial dysfunctions syndrome 1', 'VEXAS syndrome, somatic', 'Glycogen storage disease 0, liver', 'Bleeding disorder, platelet-type, 11', 'Mitochondrial complex I deficiency, nuclear type 16', 'Mitochondrial complex I deficiency, nuclear type 15', 'Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive', 'Autoimmune disease, multisystem, infantile-onset, 1', 'Respiratory infections, recurrent, and failure to thrive with or without diarrhea', 'Peroxisome biogenesis disorder 11A (Zellweger)', 'Factor XIIIB deficiency', 'Agammaglobulinemia 3, autosomal recessive', 'Peroxisome biogenesis disorder 12A (Zellweger)', 'Immunodeficiency 19', 'Bile acid malabsorption, primary', 'Quebec platelet disorder', 'Hypercalcemia, infantile, 1', 'Liddle syndrome 3', 'Leigh syndrome', 'Whim syndrome', 'Megacystis-microcolon-intestinal hypoperistalsis syndrome 5', 'LIG4 syndrome', 'Ovalocytosis, hereditary hemolytic', 'Spherocytosis, autosomal recessive', 'Vitamin K-dependent clotting factors, combined deficiency of, 2', 'Gallbladder, agenesis of', 'Polyposis syndrome, hereditary mixed, 1', 'Dent disease 2', 'Thrombocytopenia, autosomal dominant, 7', 'Factor XIII, A subunit, deficiency of', 'Kenny-caffey syndrome, type 1', 'Immunodeficiency 109 with lymphoproliferation', 'Pseudohypoaldosteronism, type IB2, autosomal recessive', 'Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies', 'Aicardi-Goutieres syndrome 1', 'Combined oxidative phosphorylation deficiency 33', 'Supravalvular aortic stenosis', 'Griscelli syndrome, type 2', 'Malignant hyperthermia, susceptibility to, 2', 'Factor VII deficiency', 'Succinic acidemia', 'Carnitine-acylcarnitine translocase deficiency', 'Combined oxidative phosphorylation deficiency 27', 'Pigmented nodular adrenocortical disease, primary, 4', 'Osteogenesis imperfecta, type XXIII', 'Ovarian hyperstimulation syndrome', 'Felty syndrome', 'Formiminotransferase deficiency', 'Immunodeficiency 75', 'Mitochondrial complex I deficiency, nuclear type 8', 'Hypoalphalipoproteinemia, primary, 2, intermediate', 'Alpha-1-Antitrypsin deficiency', 'Bleeding disorder, platelet-type, 20', 'Hypogonadotropic hypogonadism 20 with or without anosmia', 'Aicardi-Goutieres syndrome 3', '3-hydroxyisobutryl-CoA hydrolase deficiency', 'Nephronophthisis 4', 'Peroxisome biogenesis disorder 7B', 'Pancreatic agenesis, congenital', 'Familial Mediterranean fever, AR', 'Combined oxidative phosphorylation deficiency 45', 'Congenital disorder of glycosylation, type Iw', 'Alagille syndrome 1', 'Retinitis pigmentosa 59', 'Histiocytosis-lymphadenopathy plus syndrome', 'Glyoxalase II deficiency', 'Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency', 'Rhizomelic chondrodysplasia punctata, type 3', 'Immunodeficiency with hyper-IgM, type 4', 'Hypophosphatemic rickets with hypercalciuria, hereditary', 'Sulfide:quinone oxidoreductase deficiency', 'Congenital disorder of glycosylation, type In', 'Glycogen storage disease II', 'Hypertriglyceridemia, familial', 'Maturity-onset diabetes of the young, type 13', 'Abdominal obesity-metabolic syndrome 3', 'Pancreatic insufficiency, combined exocrine', 'Osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia,hydrocephalus, and hypertension', 'Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2', 'Lipodystrophy, congenital generalized, type 2', 'Glycogen storage disease III', 'Multiple mitochondrial dysfunctions syndrome 5', 'Pontocerebellar hypoplasia, type 15', 'Myopathy, mitochondrial, lethal infantile', 'Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2', 'Diamond-Blackfan anemia 11', 'XFE progeroid syndrome', 'Polyposis, skin pigmentation, alopecia, and fingernail changes', 'Malignant hyperthermia, susceptibility to, 3', 'Mitochondrial complex I deficiency, nuclear type 30', 'Immunodeficiency 78 with autoimmunity and developmental delay', 'Lung disease, immunodeficiency, and chromosome breakage syndrome', 'Jejunal atresia', 'Diamond-blackfan anemia 10', 'Lymphangiectasia, pulmonary, congenital', 'VALINEMIA', 'Coproporphyria', 'Maple syrup urine disease', 'Aortic valve disease 2', 'Hepatorenocardiac degenerative fibrosis', 'Alpha-methylacetoacetic aciduria', 'Fanconi renotubular syndrome 2', 'Marbach-Rustad progeroid syndrome', 'Mitochondrial complex I deficiency, nuclear type 33', 'DEGCAGS syndrome', 'Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma', 'Mitochondrial complex I deficiency, nuclear type 26', 'Pyruvate dehydrogenase E1-beta deficiency', 'Mitochondrial complex IV deficiency, nuclear type 2', 'Retinitis pigmentosa 89', 'Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome', 'Deoxyribose-5-Phosphate aldolase deficiency', 'Mitochondrial complex I deficiency, nuclear type 37', 'Immunoerythromyeloid hypoplasia', 'Coronary artery disease, autosomal dominant, 1', 'Hermansky-Pudlak syndrome 2', 'Immunodeficiency 17', 'Chronic granulomatous disease, X-linked', 'Atelis syndrome 1', 'Pyruvate dehydrogenase phosphatase deficiency', 'Scid, autosomal recessive, T-Negative/b-Positive type', 'Short stature, Dauber-Argente type', 'Mitochondrial complex IV deficiency, nuclear type 11', 'Vitamin D hydroxylation-deficient rickets, type 1A', 'Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)', 'Mitochondrial complex IV deficiency, nuclear type 21', 'Paroxysmal nocturnal hemoglobinuria 2', 'Hydrops fetalis, nonimmune', 'Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)', 'Hyperglycinemia, lactic acidosis, and seizures', 'Immunodeficiency 15', 'Hyperlipidemia, familial combined, 3', 'Cartilage-hair hypoplasia', 'Spinocerebellar ataxia, autosomal recessive 30', 'Noonan syndrome 8', 'Neutropenia, severe congenital, 9, autosomal dominant', 'Holoprosencephaly 12 with or without pancreatic agenesis', 'Hypophosphatemic rickets, X-linked dominant', 'Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia', '3-methylglutaconic aciduria, type VIIA, autosomal dominant', 'Glutathione peroxidase deficiency', 'Mitochondrial complex II deficiency, nuclear type 3', 'Scleroderma, familial progressive', 'Encephalopathy due to defective mitochondrial and peroxisomal fission 1', 'Hypogonadotropic hypogonadism 19 with or without anosmia', 'Fanconi anemia, complementation group Q', 'Donohue syndrome', 'Mitochondrial complex IV deficiency, nuclear type 16', 'Autoimmune disease, multisystem, with facial dysmorphism', 'Xanthinuria, type I', 'Hepatic lipase deficiency', 'Deafness, autosomal dominant 1', 'Sarcoidosis, susceptibility to, 1', 'Immunodeficiency 10', 'Congenital disorder of glycosylation with defective fucosylation 1', 'Bleeding disorder, platelet-type, 9', 'Al-Gazali syndrome', 'Multiple mitochondrial dysfunctions syndrome 6', 'Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia', 'Alcohol sensitivity, acute', 'Acatalasemia', 'Bone marrow failure syndrome 5', 'Amyotrophic lateral sclerosis 20', 'Lipodystrophy, familial partial, type 6', 'Stuve-Wiedemann syndrome 2', 'Sudden cardiac failure, infantile', 'Hypoalphalipoproteinemia, primary, 2', 'Arima syndrome', 'Wiskott-Aldrich syndrome 2', 'Peutz-Jeghers syndrome', 'Adams-Oliver syndrome 6', 'Hypercholesterolemia, familial, 1', 'Spondyloepiphyseal dysplasia, Kondo-Fu type', 'Liddle syndrome 2', 'Cardiac valvular dysplasia 2', 'Mitochondrial DNA depletion syndrome 1 (MNGIE type)', 'Anemia, nonspherocytic hemolytic, associated with abnormality of redcell membrane', 'Campomelia, Cumming type', 'Dyskeratosis congenita, autosomal dominant 6', 'Acyl-Coa dehydrogenase, short-chain, deficiency of', 'Nephronophthisis 18', 'Senior-Loken syndrome 4', 'Silver-Russell syndrome 4', 'Heinz body anemias', 'Adams-Oliver syndrome 5', 'Immunoglobulin A deficiency 1', 'Intestinal dysmotility syndrome', 'Immunodeficiency 102', 'Hyper-Igd syndrome', 'Wolfram syndrome 2', 'Von willebrand disease, type 1', 'Gitelman syndrome', 'Fanconi anemia, complementation group P', 'Dyskeratosis congenita, autosomal recessive 5', 'Mitochondrial complex V (atp synthase) deficiency, nuclear type 3', 'Lipodystrophy, familial partial, type 4', 'VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1', 'Vitamin D-dependent rickets type 2B with normal vitamin D receptor', 'Osteogenesis imperfecta, type XVI', 'Pseudohypoaldosteronism, type IID', 'Osteopetrosis, autosomal dominant 2', 'Paget disease of bone 3', 'Hermansky-Pudlak syndrome 6', 'Right atrial isomerism (Ivemark)', 'Mucopolysaccharidosis type IIIA', 'Hepatic venoocclusive disease with immunodeficiency', 'Adenylate kinase deficiency, hemolytic anemia due to', '6-@phosphogluconolactonase deficiency', 'Mitochondrial complex I deficiency, nuclear type 22', 'Dk phocomelia syndrome', 'Parana hard-skin syndrome', 'Hyperinsulinemic hypoglycemia, familial, 6', 'Hypertrophic osteoarthropathy, primary, autosomal recessive 2', 'GLYCINE N-METHYLTRANSFERASE DEFICIENCY', 'Neutropenia, severe congenital, 7, autosomal recessive', 'Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration', 'Ossification of the posterior longitudinal ligament of spine', 'Pernicious anemia', 'Osteoporosis, juvenile', 'Very long-chain acyl-CoA dehydrogenase deficiency', 'Beemer lethal malformation syndrome', 'Immunodeficiency, common variable, 11', 'C1q deficiency 2', 'Mitochondrial complex I deficiency, nuclear type 9', 'Lipodystrophy, familial partial, type 1', 'Tubulointerstitial kidney disease, autosomal dominant, 2', 'Epilepsy, hearing loss, and mental retardation syndrome', 'Sandhoff disease', 'Neurodevelopmental disorder with or without autism or seizures', 'Ascites, chylous', 'Hyperoxaluria, primary, type I', 'Mitochondrial complex IV deficiency, nuclear type 15', 'Renal cysts and diabetes syndrome', 'Pulmonic stenosis', 'Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities', 'Neurodevelopmental disorder with epilepsy and hemochromatosis', 'Immunodeficiency, common variable, 1', 'Immunodeficiency 14B, autosomal recessive', 'Specific granule deficiency', 'Short-rib thoracic dysplasia 9 with or without polydactyly', 'Ichthyosis, hepatosplenomegaly, and cerebellar degeneration', 'Myelofibrosis with myeloid metaplasia, somatic', 'ABCD syndrome', 'ACTH-independent macronodular adrenal hyperplasia 2', 'Coach syndrome 2', 'Mitochondrial complex I deficiency, nuclear type 28', 'Immunodeficiency 84', 'Mucopolysaccharidosis type IIIB', 'Lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones', 'Mitochondrial complex V (ATP synthase) deficiency nuclear type 5', 'Immunodeficiency 57', 'Familial cold autoinflammatory syndrome 2', 'Paget disease of bone 4', 'Nephrotic syndrome, type 2', 'Mitochondrial complex I deficiency, nuclear type 24', 'Sitosterolemia 2', 'Ovarian dysgenesis 8', 'Liddle syndrome 1', 'Telangiectasia, hereditary hemorrhagic, type 1', 'Imerslund-Grasbeck syndrome 2', 'Adenine phosphoribosyltransferase deficiency', 'Candidiasis, familial chronic mucocutaneous, autosomal recessive', 'Immunodeficiency 76', 'Oxoglutarate dehydrogenase deficiency', 'Pelger-Huet anomaly', 'Senior-Loken syndrome 1', 'Glycoprotein storage disease', 'Epileptic encephalopathy, early infantile, 51', 'Bone marrow failure and diabetes mellitus syndrome', 'Protoporphyria, erythropoietic, 2', 'Aural atresia, multiple congenital anomalies, and mental retardation', 'Graves disease', 'Moyamoya disease 6 with achalasia', 'Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3', 'von Hippel-Lindau syndrome', 'Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures', 'Estrogen resistance', 'Osteogenesis imperfecta, type II', 'Hyperaldosteronism, familial, type III', 'GM1-gangliosidosis, type I', 'Obesity and hypopigmentation', 'Bone marrow failure syndrome 1', 'HYPERLEUCINE-ISOLEUCINEMIA', 'Tropical calcific pancreatitis', 'Hypogonadotropic hypogonadism 21 with or without anosmia', 'North american indian childhood cirrhosis', 'Nephronophthisis 2', 'Pulmonary hypertension, primary, 1', 'Rickets, vitamin D-resistant, type IIA', '2,4-dienoyl-CoA reductase deficiency', 'Leukotriene C4 synthase deficiency', 'Acrocephalopolydactylous dysplasia', 'Immunodeficiency 42', 'Peroxisome biogenesis disorder 11B', 'Beta-ureidopropionase deficiency', 'Combined saposin deficiency', 'Dyskeratosis congenita, X-linked', 'Immunodeficiency 12', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6', 'Digeorge syndrome', 'Atrial septal defect 2', 'Immunodeficiency 59 and hypoglycemia', 'Heterotaxy, visceral, 4, autosomal', 'Hypoaldosteronism, congenital, due to CMO II deficiency', 'Hermansky-Pudlak syndrome 9', 'Short-Rib thoracic dysplasia 1 with or without polydactyly', 'Noonan syndrome 4', 'Erythrocytosis, familial, 3', 'Retinal arterial macroaneurysm with supravalvular pulmonic stenosis', 'Hypotonia-cystinuria syndrome', 'Hypokalemic tubulopathy and deafness', 'Lowe syndrome', 'Pulmonic stenosis, atrial septal defect, and unique electrocardiographicabnormalities', 'Hall-Riggs mental retardation syndrome', 'Mungan syndrome', 'Immunodeficiency, common variable, 6', 'Noonan syndrome 12', 'Alstrom syndrome', 'Glycogen storage disease XI', 'Immunodeficiency, common variable, 7', 'Immunodeficiency 85 and autoimmunity', 'Mitochondrial complex I deficiency, nuclear type 14', 'Polycystic kidney disease 4 with or without polycystic liver disease', 'Nephropathy, progressive tubulointerstitial, with cholestatic liverdisease', 'Peroxisome biogenesis disorder 3A (Zellweger)', 'Pontocerebellar hypoplasia, type 13', 'Perlman syndrome', 'Squalene synthase deficiency', 'OSTEOPOROSIS', 'Coenzyme Q10 deficiency, primary, 7', 'Polycystic liver disease 2', 'D-glyceric aciduria', 'Paget disease of bone 6', 'Immunodeficiency 72 with autoinflammation', 'Bangstad syndrome', 'Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities', 'Hermansky-Pudlak syndrome 4', 'Epidermolysis bullosa dystrophica, autosomal recessive', 'Coach syndrome 1', 'Hypercholesterolemia, familial, 2', 'Cephalin lipidosis', 'Osteogenesis imperfecta, type XI', 'Dwarfism, Levi type', 'Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency', 'Lipodystrophy, congenital generalized, type 1', 'Congenital heart defects, multiple types, 7', 'Hyperlipoproteinemia, type II, and deafness', 'Hemolytic anemia due to glutathione reductase deficiency', 'Periodic fever, familial, autosomal dominant', 'Obesity, early-onset, with adrenal insufficiency and red hair', 'Gastritis, familial giant hypertrophic', 'Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia', 'Mitochondrial myopathy with lactic acidosis', 'Mucolipidosis III gamma', 'Renal tubular acidosis, distal, autosomal dominant', 'Diabetes mellitus, transient neonatal, 3', 'Myopathy, isolated mitochondrial, autosomal dominant', 'Molybdenum cofactor deficiency, complementation group C', 'Khan-Khan-Katsanis syndrome', 'Neutral lipid storage disease with myopathy', 'Ataxia-oculomotor apraxia 4', 'Iron overload, susceptibility to', 'Mucopolysaccharidosis type IVB (Morquio)', 'Larsen-like syndrome, Lethal type', 'Mandibuloacral dysplasia progeroid syndrome', 'Succinyl CoA:3-oxoacid CoA transferase deficiency', 'Gastrointestinal defects and immunodeficiency syndrome', 'Myeloproliferative disease, autosomal recessive', 'Fanconi anemia, complementation group S', 'OBESITY', 'Congenital disorder of glycosylation, type IIg', 'Hemolytic anemia due to elevated adenosine deaminase', 'Spinal muscular atrophy, type I, with congenital bone fractures', 'Rhizomelic chondrodysplasia punctata, type 2', 'Maturity-onset diabetes of the young, type 14', 'Nephrotic syndrome, type 6', 'Epileptic encephalopathy, early infantile, 53', 'Epileptic encephalopathy, early infantile, 36', 'Cranioectodermal dysplasia', 'Hyperparathyroidism, transient neonatal', 'Tumoral calcinosis, hyperphosphatemic, familial, 3', 'Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes', 'Congenital disorder of glycosylation, type Ii', 'Cerebrotendinous xanthomatosis', 'Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration', 'Hypophosphatemic rickets and hyperparathyroidism', 'Mitochondrial complex I deficiency, nuclear type 4', 'Intellectual developmental disorder, autosomal recessive 1', 'Crigler-najjar syndrome, type II', 'Hyperbilirubinemia, conjugated, type III', 'Wiskott-Aldrich syndrome', 'Diabetes mellitus, permanent neonatal 3, with or without neurologic features', 'Autoinflammatory disease, systemic, X-linked', 'Angioedema, hereditary, 1', 'Hemoglobin-Variants for which the chain carrying the mutation isunknown or uncertain', 'Agammaglobulinemia 1, autosomal recessive', 'Hypopigmentation, organomegaly, and delayed myelination and development', 'Pulmonic stenosis and deafness', 'Combined oxidative phosphorylation deficiency 22', 'Hypobetalipoproteinemia, familial, 2', 'Perrault syndrome 5', 'Porphyria, acute intermittent', 'Cardiomyopathy, dilated, 2C', 'Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)', 'Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias', 'Congenital disorder of glycosylation, type IE', 'Klippel-Trenaunay-Weber syndrome', 'Anemia, autoimmune hemolytic', 'Budd-Chiari syndrome', 'Immunodeficiency 9', 'Pitt-Hopkins-Like syndrome 2', 'Congenital heart defects, multiple types, 6', 'Inflammatory skin and bowel disease, neonatal, 1', 'Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2', 'Spondyloepimetaphyseal dysplasia, Shohat type', 'Immunodeficiency 43', 'Glomerulopathy with fibronectin deposits 1', 'Hyperinsulinemic hypoglycemia, familial, 8', 'Intrauterine growth retardation with increased mitomycin C sensitivity', 'Lactase persistence/nonpersistence', 'Visceral myopathy, familial, with external ophthalmoplegia', 'Tricarboxylic acid cycle, defect of', 'Glycogen storage disease of heart, lethal congenital', 'Hypogonadotropic hypogonadism 15 with or without anosmia', 'Congenital disorder of glycosylation, type IQ', '3-methylglutaconic aciduria, type I', 'Diamond-Blackfan anemia 15 with mandibulofacial dysostosis', 'Congenital disorder of glycosylation, type Iy', 'Myoclonic epilepsy associated with ragged-red fibers', 'Diarrhea 2, with microvillous atrophy', 'Pulmonary alveolar proteinosis with hypogammaglobulinemia', 'Deeah syndrome', 'Immunodeficiency, developmental delay, and hypohomocysteinemia', 'Gnathodiaphyseal dysplasia', 'Pituitary hormone deficiency, combined, 1', 'Progeroid short stature with pigmented nevi', 'Lymphedema, primary, with myelodysplasia', 'Hermansky-Pudlak syndrome 3', 'Peroxisome biogenesis disorder 8B', 'Hyperinsulinemic hypoglycemia, familial, 1', 'Hemophilia B', 'Combined oxidative phosphorylation deficiency 20', 'Immunodeficiency 53', 'Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4', 'Noonan syndrome-like with loose anagen hair 1', 'Tn polyagglutination syndrome', 'Geleophysic dysplasia 1', 'Hyperparathyroidism 4', 'Trichothiodystrophy 3, photosensitive', 'Hydroxykynureninuria', 'Hypereosinophilic syndrome, idiopathic', 'Hypercalcemia, infantile 2', 'Hyperbilirubinemia, familial transient neonatal', 'SULFOCYSTEINURIA', 'Peroxisome biogenesis disorder 4A (Zellweger)', 'Spinal muscular atrophy, segmental', 'Congenital disorder of glycosylation, type IIf', 'Galactosemia IV', 'Ichthyosis, congenital, autosomal recessive 4A', 'Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type', 'Angioedema, hereditary, 8', 'Combined oxidative phosphorylation deficiency 7', 'Mitochondrial complex IV deficiency, nuclear type 18', 'Hurler-Scheie syndrome', 'Kagami-Ogata syndrome', 'Nephrotic syndrome, type 15', 'Ventricular septal defect 1', 'Congenital disorder of glycosylation, type Im', 'Atrial standstill 2', 'Immunodeficiency 108 with autoinflammation', 'Aortic aneurysm, familial thoracic 4', 'Immunodeficiency-Centromeric instability-facial anomalies syndrome', 'Peroxisome biogenesis disorder 2A (Zellweger)', 'Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia', 'Bleeding disorder, platelet-type, 14', 'Coenzyme Q10 deficiency, primary, 4', 'Pancreatic lipase deficiency', 'Fucosidosis', 'Hypomagnesemia 7, renal, with or without dilated cardiomyopathy', 'Peroxisome biogenesis disorder 7A (zellweger)', 'Silver-Russell syndrome 5', 'Craniometadiaphyseal dysplasia', 'Osteogenesis imperfecta, type XXII', 'Fanconi anemia, complementation group L', 'Braddock-Carey syndrome 2', 'Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset', 'Mitochondrial complex I deficiency, nuclear type 18', 'Fatal familial insomnia', 'Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT', 'Lipodystrophy, partial, acquired, susceptibility to', 'Pigmented nodular adrenocortical disease, primary, 2', 'Singleton-Merten syndrome 2', 'Multiple mitochondrial dysfunctions syndrome 3', 'Hypercholesterolemia, familial, 3', 'Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression', 'Amyotrophic lateral sclerosis 21', 'LMNA-related congenital muscular dystrophy', 'Teratoma, pineal', 'Hyperthermia, cutaneous, with headaches and nausea', 'Insulin-Like growth factor I deficiency', 'Combined oxidative phosphorylation deficiency 44', 'Lethal congenital contracture syndrome 1', 'Dyskeratosis congenita, autosomal recessive 6', 'Myoglobinuria, acute recurrent, autosomal recessive', 'Woronets trait', 'Thrombocytopenia 1', 'Central hypoventilation syndrome, congenital, 3', 'Focal segmental glomerulosclerosis 6', 'Peroxisomal acyl-CoA oxidase deficiency', 'Crigler-Najjar syndrome, type I', 'Pseudohypoaldosteronism, type IIB', 'Oculoskeletodental syndrome', 'Mitochondrial complex I deficiency, nuclear type 23', 'Trichohepatoneurodevelopmental syndrome', 'Mucopolysaccharidosis, type VI', 'Molybdenum cofactor deficiency, complementation group A', 'Hemolytic anemia with thermal sensitivity of red cells', 'Pancreatic agenesis 2', 'Mitochondrial short-chain enoyl-coa hydratase 1 deficiency', 'Cystinosis, late-onset juvenile or adolescent nephropathic', 'Arterial calcification, generalized, of infancy, 2', 'Poikiloderma with neutropenia', 'Short stature and microcephaly with genital anomalies', 'Pontocerebellar hypoplasia, type 6', 'Exudative vitreoretinopathy 4', 'Heterotaxy, visceral, 12, autosomal', 'Combined oxidative phosphorylation deficiency 24', 'Combined oxidative phosphorylation deficiency 29', 'Cranioacrofacial syndrome', 'Duodenal ulcer, hyperpepsinogenemic I', 'Nephrotic syndrome, type 3', 'Charcot-Marie-Tooth disease, type 4K', 'Thrombocytopenia-absent radius syndrome', 'Weill-Marchesani syndrome 3', 'Immunodeficiency 14', 'Dihydropyrimidine dehydrogenase deficiency', 'Familial expansile osteolysis', 'Hyperalphalipoproteinemia 1', 'Spondyloepimetaphyseal dysplasia, Krakow type', 'Mucolipidosis II alpha/beta', 'Fetal hemoglobin quantitative trait locus 1', 'Severe combined immunodeficiency, X-linked', 'Bone fragility with contractures, arterial rupture, and deafness', 'Nestor-Guillermo progeria syndrome', 'Revesz syndrome', 'Immunodeficiency, common variable, 12', 'Congenital disorder of deglycosylation 1', 'Thyrotoxic periodic paralysis, susceptibility to, 1', 'Glucocorticoid resistance', 'Cardiofacioneurodevelopmental syndrome', 'Bleeding disorder, platelet-type, 22', 'Peroxisome biogenesis disorder 1B', 'Disorganization, mouse, homolog of', 'Microcephaly, postnatal progressive, with seizures and brain atrophy', 'Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1', 'Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1', 'Heterotaxy, visceral, 1, X-linked', 'Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia', 'Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus', 'Bruck syndrome 2', 'Deafness, nerve type, with mesenteric diverticula of small bowel andprogressive sensory neuropathy', 'Hyperinsulinemic hypoglycemia, familial, 2', 'Encephalopathy, acute, infection-induced, susceptibility to, 4', 'Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia', 'RECON progeroid syndrome', 'Seckel syndrome 4', 'Hennekam lymphangiectasia-lymphedema syndrome 2', 'Antithrombin III deficiency', 'Rhizomelic syndrome', 'Fanconi anemia, complementation group W', 'Mitochondrial complex IV deficiency, nuclear type 23', 'Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome', 'Cerebrooculofacioskeletal syndrome 1', 'Spinal muscular atrophy, distal, autosomal recessive, 1', 'Hemolytic anemia, congenital, X-linked', 'Hyperlysinemia, type I', 'Plasma fibronectin deficiency', 'Galactokinase deficiency', 'Microcephaly 19, primary, autosomal recessive', 'Hermansky-Pudlak syndrome 5', 'Proprotein convertase 1/3 deficiency', 'Retinal dystrophy and microvillus inclusion disease', 'Hyperlysinuria with hyperammonemia', 'Thyrocerebroretinal syndrome', 'Mesoaxial hexadactyly and cardiac malformation', 'Immunodeficiency 36', 'Plasminogen deficiency, type I', 'Heparin cofactor II deficiency', 'Smith-Lemli-Opitz syndrome', 'Leber optic atrophy and dystonia', 'Congenital disorder of glycosylation, type IIt', 'Geleophysic dysplasia 2', 'Hypogonadotropic hypogonadism 4 with or without anosmia', 'Breath-Holding spells', 'Immunodeficiency 55', 'Ruijs-Aalfs syndrome', 'Ataxia-telangiectasia', 'Amyotrophic lateral sclerosis 4, juvenile', 'Mitochondrial DNA depletion syndrome 4B (mngie type)', 'Cutis laxa, autosomal recessive, type IC', 'Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy', 'Amyotrophic lateral sclerosis 1', 'Flaujeac factor deficiency', 'Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency', 'Mitochondrial complex IV deficiency, nuclear type 19', 'Combined oxidative phosphorylation deficiency 32', 'Cleidocranial dysplasia 2', 'Osteopetrosis, autosomal dominant 1', 'Edema, familial idiopathic, prepubertal', 'Bardet-Biedl syndrome 12', 'Nephrotic syndrome, type 9', 'Pyruvate dehydrogenase e1-alpha deficiency', 'Bloom syndrome', 'Barth syndrome', 'Diabetes, permanent neonatal 2, with or without neurologic features', 'Pulmonary hemosiderosis', 'Mandibuloacral dysplasia', 'Neurodegeneration and seizures due to copper transport defect', 'Lactic acidosis, chronic adult form', 'Chromosome 14q32 duplication syndrome, 700-kb', 'Calcific aortic disease with immunologic abnormalities, familial', 'Chromosome 15q25 deletion syndrome', 'Dyskeratosis congenita, digenic', 'Mannose-Binding lectin deficiency', 'Ovarian dysgenesis 1', 'Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2', 'Polycystic kidneys', 'Mitochondrial complex I deficiency, nuclear type 19', 'Polycystic kidney disease 5', 'Dyskeratosis congenita, autosomal recessive, 3', 'Amyotrophic lateral sclerosis 23', 'Hypocalciuric hypercalcemia, familial, type III', 'Osteogenesis imperfecta, type XVII', 'Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency', 'DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION', 'Osteogenesis imperfecta, type XIII', 'Desmosterolosis', 'Combined oxidative phosphorylation deficiency 54', 'Hypogonadotropic hypogonadism 17 with or without anosmia', 'Short-rib thoracic dysplasia 12', 'Vascular hyalinosis', 'L-ferritin deficiency, dominant and recessive', 'Hermansky-Pudlak syndrome 10', 'Stiff-Person syndrome', 'Methemoglobinemia, Beta type', 'Short rib-polydactyly syndrome, type VI', 'Psoriasis 14, pustular', 'Congenital prothrombin deficiency', 'Lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmunehemolytic anemia, and glomerulonephritis', 'Metaphyseal chondrodysplasia, Jansen type', 'Grange syndrome', 'Flynn-Aird syndrome', 'Congenital disorder of glycosylation, type Ik', 'Aortic aneurysm, abdominal', 'Osteopenia and sparse hair', 'Fanconi anemia, complementation group J', 'Hemolytic disease of fetus and newborn, RH-induced', 'Cockayne syndrome, type B', 'Developmental delay with or without intellectual impairment or behavioral abnormalities', 'Leukodystrophy, hypomyelinating, 4', 'Hyperphosphatasia with mental retardation syndrome 6', 'Fg syndrome 2', 'Transcobalamin I deficiency', 'Bleeding disorder, platelet-type, 18', 'Peroxisome biogenesis disorder 6B', 'Telangiectasia, hereditary hemorrhagic, type 5', 'Microcephaly, growth restriction, and increased sister chromatid exchange 2', 'Nephrotic syndrome, type 8', 'Hypothyroidism, congenital, nongoitrous, 8', 'Mitochondrial complex I deficiency, nuclear type 31', 'Cerebral creatine deficiency syndrome 3', 'Harel-Yoon syndrome', 'Histiocytosis, familial lipochrome', 'Cardiomyopathy, dilated, 1I', 'Temple syndrome', 'Neutropenia, severe congenital, 8, autosomal dominant', 'Macrothrombocytopenia, autosomal dominant, tubb1-related', 'Cole-Carpenter syndrome 1', 'Malignant atrophic papulosis', 'Optic atrophy 11', 'Porphyria cutanea tarda, type I', 'Deafness, congenital, and adult-onset progressive leukoencephalopathy', 'Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency', 'Myopathy, congenital, with fiber-type disproportion', 'Arterial calcification, generalized, of infancy, 1', 'Peroxisome biogenesis disorder 5B', 'Mucopolysaccharidosis type IIIC', 'Myoclonic epilepsy of Lafora', 'Lipodystrophy, familial partial, type 7', 'Striatonigral degeneration, infantile', 'Coenzyme Q10 deficiency, primary, 8', 'Congenital myopathy 18 due to dihydropyridine receptor defect', 'Dyskeratosis congenita, autosomal recessive 8', 'Bent bone dysplasia syndrome 2', 'Emery-Dreifuss muscular dystrophy 3, autosomal recessive', 'Congenital disorder of glycosylation, type IF', 'Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster', 'Meier-Gorlin syndrome 4', 'Immunodeficiency 67', 'Immunodeficiency 23', 'PYKNOACHONDROGENESIS', 'Protoporphyria, erythropoietic, X-linked', 'Cutis laxa, autosomal recessive, type IIB', 'Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1', 'Biliary cirrhosis, primary', 'Osteogenesis imperfecta, type I', 'Ophthalmoplegic neuromuscular disorder with abnormal mitochondria', 'Diarrhea 8, secretory sodium, congenital', 'Laterality defects, autosomal dominant', 'Tuftsin deficiency', 'Epidermolysis bullosa simplex with muscular dystrophy', 'Cleft lip/palate with abnormal thumbs and microcephaly', 'Congenital disorder of glycosylation, type Ig', 'Hypertrophic osteoarthropathy, primary, autosomal recessive 1', 'Methylmalonate semialdehyde dehydrogenase deficiency', 'Interstitial pneumonitis, desquamative, familial', 'Megaloblastic anemia 1', 'Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy', 'Body mass index quantitative trait locus 19', 'Plasmin inhibitor deficiency', 'Growth hormone deficiency, isolated, type IA', 'Neurodegeneration with brain iron accumulation 8', 'Congenital disorder of glycosylation, type IIy', 'Chondrodysplasia, Blomstrand type', 'Calcification of joints and arteries', 'Pyruvate dehydrogenase e3-binding protein deficiency', 'Macrothrombocytopenia, isolated, 2, autosomal dominant', 'Moyamoya disease 2, susceptibility to', 'Williams-Beuren syndrome', 'Congenital heart defects, multiple types, 8, with or without heterotaxy', 'Frontotemporal dementia and/or amyotrophic lateral sclerosis 6', 'Methemoglobinemia, Alpha type', 'Combined oxidative phosphorylation deficiency 25', 'Spondyloepimetaphyseal dysplasia, DI Rocco type', 'Macrocephaly/autism syndrome', 'Antiphospholipid syndrome, familial', 'Sarcoidosis, susceptibility to, 2', 'Leukodystrophy, hypomyelinating, 21', 'Hypomagnesemia 3, renal', 'Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness', 'Psychomotor retardation, epilepsy, and craniofacial dysmorphism', 'OSTEOMESOPYKNOSIS', 'Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant', 'Frontotemporal dementia and/or amyotrophic lateral sclerosis 3', 'Hypouricemia, renal, 2', 'Joubert syndrome 33', 'Lymphatic malformation 13', 'Aspartylglucosaminuria', 'Ullrich congenital muscular dystrophy 1', 'Aromatic L-amino acid decarboxylase deficiency', 'Mitochondrial complex I deficiency, nuclear type 2', 'Immunodeficiency 81', 'Multiple endocrine neoplasia, type IIB', 'Neurodegeneration, childhood-onset, with progressive microcephaly', 'Factor X deficiency', 'Immunoglobulin kappa light chain deficiency', 'Microcephaly, epilepsy, and diabetes syndrome', 'Neuropathy, hereditary motor and sensory, Okinawa type', 'Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis', 'Mitochondrial complex I deficiency, nuclear type 17', 'Glucocorticoid deficiency 1', 'Pseudodiastrophic dysplasia', 'Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia', 'Primary lateral sclerosis, adult', 'Bent bone dysplasia syndrome', 'Cranioectodermal dysplasia 2', 'Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5', 'Epileptic encephalopathy, early infantile, 46', 'Galloway-Mowat syndrome 3', 'Glutathioninuria', 'Congenital heart defects, multiple types, 5', 'Mulibrey nanism', 'Aicardi-Goutieres syndrome 5', 'Factor XII deficiency', 'Hamamy syndrome', 'Epileptic encephalopathy, early infantile, 75', 'Mucolipidosis III alpha/beta', 'Paget disease of bone 2, early-onset', 'Metaphyseal modeling abnormality, skin lesions, and spastic paraplegia', 'Meckel syndrome, type 6', 'Friedreich ataxia 2', 'Mitochondrial complex II deficiency', 'Fanconi renotubular syndrome 5', 'Diarrhea 6', '3-methylglutaconic aciduria, type IX', 'Mitochondrial complex III deficiency, nuclear type 4', 'Thrombophilia, hereditary, due to protein S deficiency, autosomal', 'NONDISJUNCTION', 'Chronic granulomatous disease 3, autosomal recessive', 'Singleton-Merten syndrome 1', 'Congenital heart defects, multiple types, 9', 'Joubert syndrome 8', 'WHIM syndrome 2', 'Spondyloocular syndrome', 'Cutis laxa, autosomal dominant 3', 'Myopathy, myofibrillar, 1', 'Silver-Russell syndrome 3', 'Neurodevelopmental disorder with epilepsy and brain atrophy', 'Pigmented nodular adrenocortical disease, primary, 1', 'Lethal congenital contracture syndrome 5', 'Cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction', 'Noonan syndrome 9', 'Caffey disease', 'Cardiomyopathy, dilated, with woolly hair and keratoderma', 'Charcot-Marie-Tooth disease, axonal, type 2EE', 'Frontotemporal dementia and/or amyotrophic lateral sclerosis 4', 'Mitochondrial complex I deficiency, nuclear type 36', 'Primary aldosteronism, seizures, and neurologic abnormalities', 'Multiple congenital anomalies-neurodevelopmental syndrome, X-linked', 'Basal ganglia calcification, idiopathic, childhood-onset', 'Diabetes insipidus, Neurohypophyseal type', 'Maturity-onset diabetes of the young, type 10', 'Cyclic neutropenia', 'Pseudoxanthoma elasticum, forme fruste', 'Arthrogryposis, perthes disease, and upward gaze palsy', 'Factor V and factor VIII, combined deficiency of', 'Cardiomyopathy, dilated, 1L', 'Multiple sulfatase deficiency', 'Angioedema, hereditary, 3', 'Combined oxidative phosphorylation deficiency 39', 'Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus,photomyoclonus, and degenerative neurologic disease', 'Bleeding disorder, platelet-type, 12', 'Growth hormone insensitivity with immune dysregulation 1, autosomal recessive', 'Vici syndrome', 'HISTIDINEMIA', 'Muscular dystrophy, Cardiac type', 'Lipase deficiency, combined', 'Myopathy, congenital, compton-north', 'Hurler syndrome', 'Mastocytosis, cutaneous', 'Greenberg skeletal dysplasia', 'Visceral myopathy 1', 'Short-Rib thoracic dysplasia 4 with or without polydactyly', 'Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin', 'Mitochondrial complex II deficiency, nuclear type 4', 'Thrombophilia due to thrombomodulin defect', 'Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6', 'Combined D-2- and L-2-hydroxyglutaric aciduria', 'Short stature, microcephaly, and endocrine dysfunction', 'Fanconi-Like syndrome', 'Meconium ileus', 'Noonan syndrome 6', 'Short-Rib thoracic dysplasia 7 with or without polydactyly', 'Congenital heart defects, multiple types, 2', 'Achondrogenesis, type IB', 'Dibasic amino aciduria I', 'Malignant hyperthermia, susceptibility to, 5', 'Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency', 'Arthropathy, progressive pseudorheumatoid, of childhood', 'Brachyolmia type 1, Hobaek type', 'Microcephaly, short stature, and impaired glucose metabolism 1', 'Alpha-methylacyl-CoA racemase deficiency', 'Osteogenesis imperfecta, type IV', 'Rhizomelic chondrodysplasia punctata, type 1', 'Diabetes mellitus, noninsulin-dependent', 'Pulmonary fibrosis, idiopathic', 'Cardiac lipidosis, familial', 'Systemic lupus erythematosus 17', 'Muscular dystrophy, limb-girdle, autosomal recessive 18', 'Trehalase deficiency', 'Esophagitis, eosinophilic, 1', 'Esophagitis, eosinophilic, 2', 'Alpha-mannosidosis', 'Muscular dystrophy, progressive pectorodorsal', 'Inflammatory bowel disease 11', 'Leukodystrophy, hypomyelinating, 13', 'Pyruvate dehydrogenase E2 deficiency', 'Hermansky-Pudlak syndrome 7', 'Noonan syndrome 10', 'Hirschsprung disease, susceptibility to, 1', 'Eiken syndrome', 'Cardiomyopathy, dilated, 2F', 'Reticular dysgenesia', 'Agammaglobulinemia 6, autosomal recessive', 'Pontocerebellar hypoplasia, type 1C', 'Thrombophilia due to deficiency of activated protein C cofactor', 'Hypoplastic left heart syndrome', 'Hypoadrenocorticism, familial', 'Cimdag syndrome', 'Lymphedema and cerebral arteriovenous anomaly', 'Bowen-Conradi syndrome', 'Heterotaxy, visceral, 2, autosomal', 'Mahvash disease', 'Bruck syndrome 1', 'Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency', 'Osteogenesis imperfecta, type VIII', 'Cardiomyopathy, dilated, 1II', 'Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps', 'Netherton syndrome', 'Pulmonary edema of mountaineers', 'Welander distal myopathy', 'Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures', 'Osteosclerosis with ichthyosis and fractures', 'Cerebellar vermis aplasia with associated features suggesting smith-lemli-opitzsyndrome and meckel syndrome', 'Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia', 'Polycystic liver disease 3 with or without kidney cysts', 'Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital', 'Diamond-Blackfan anemia 14 with mandibulofacial dysostosis', 'Encephalopathy, acute, infection-induced, susceptibility to, 9', 'Encephalopathy, progressive, with or without lipodystrophy', 'Craniodiaphyseal dysplasia, autosomal dominant', 'Developmental and epileptic encephalopathy 44', 'Meier-Gorlin syndrome 2', 'Hypothyroidism, congenital, nongoitrous, 2', 'Pituitary hormone deficiency, combined, 6', 'Glycogen storage disease XIII', 'Familial cold inflammatory syndrome 1', 'Hypophosphatasia, childhood', 'Nijmegen breakage syndrome', 'Developmental and epileptic encephalopathy 62', 'Bartter syndrome, type 4A, neonatal, with sensorineural deafness', 'Immunodeficiency 89 and autoimmunity', 'Acetyl-Coa acetyltransferase-2 deficiency', 'Chromosome 1p36 deletion syndrome, proximal', 'Methionine adenosyltransferase I/III deficiency', 'Gastrointestinal stromal tumor', 'Arthrogryposis multiplex congenita 5', 'EOSINOPHILOPENIA', 'Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities', 'Meckel syndrome 14', 'Thrombophiliavenous thromboembolism, included', 'Smith-Kingsmore syndrome', 'Hyperphenylalaninemia, BH4-deficient, A', 'Hypogonadotropic hypogonadism 26 with or without anosmia', 'Hyperinsulinemic hypoglycemia, familial, 4', 'Mental retardation, autosomal recessive 27', 'Faciocardiomelic syndrome', 'Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency', 'Surfactant metabolism dysfunction, pulmonary, 4', 'Microcephaly, growth deficiency, seizures, and brain malformations', 'Schindler disease, type I', 'Meier-Gorlin syndrome 5', 'Distichiasis with congenital anomalies of the heart and peripheral', 'Peroxisome biogenesis disorder 10A (Zellweger)', 'Cortisone reductase deficiency 2', 'Hypotonia, infantile, with psychomotor retardation and characteristic facies 2', 'Anemia, sideroblastic, and spinocerebellar ataxia', 'Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked', 'Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities', 'Hyperinsulinemic hypoglycemia, familial, 7', 'Epileptic encephalopathy, early infantile, 86', 'Neuropathy, hereditary sensory and autonomic, type III', 'Ciliary dyskinesia, primary, 16', 'Myopathy with extrapyramidal signs', 'Mucopolysaccharidosis, type II', 'Leiomyomatosis, diffuse, with alport syndrome', 'Phenylketonuria', 'Branchial arch syndrome, X-linked', 'Developmental and epileptic encephalopathy 96', 'Globulin anomaly involving beta (2a)-globulin', 'Cardiac-Urogenital syndrome', 'Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia', 'Lambert syndrome', 'Chromosome 16p13.3 deletion syndrome', 'Porphyria variegata', 'Immunodeficiency 25', 'Maturity-onset diabetes of the young, type 11', 'C syndrome', 'Glycosylphosphatidylinositol biosynthesis defect 25', 'ACCES syndrome', 'Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction', 'Amyotrophic lateral sclerosis 18', 'Celiac artery stenosis from compression by median arcuate ligamentof diaphragm', 'Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination', 'Cardiomyopathy, familial hypertrophic, 8', 'Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis', 'Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies', 'Diabetes insipidus, nephrogenic, X-linked', 'Macrocephaly, alopecia, cutis laxa, and scoliosis', 'Leukodystrophy, hypomyelinating, 18', 'Mucopolysaccharidosis IVA', 'Cerebral cavernous malformations 1', 'Xanthomatosis, susceptibility to', 'Immunodeficiency 62', 'Thyroid hormone metabolism, abnormal, 2', 'Microcephaly 23, primary, autosomal recessive', 'Cerebroretinal microangiopathy with calcifications and cysts 3', 'Cardiac valvular dysplasia, X-linked', 'Pseudoxanthoma elasticum', 'Pseudopseudohypoparathyroidism', 'Avascular necrosis of femoral head, primary, 1', 'Heterotaxy, visceral, 7, autosomal', 'Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies', 'Sertoli cell-only syndrome', 'Lymphatic malformation 9', 'Platelet prostacyclin receptor defect', 'Thyroid hormone resistance, generalized, autosomal recessive', 'Diaphyseal medullary stenosis with malignant fibrous histiocytoma', 'Alpha-Fetoprotein, hereditary persistence of', 'Alpha-Fetoprotein deficiency', 'Congenital disorder of glycosylation, type Id', 'GM1-gangliosidosis, type III', 'Conotruncal heart malformations', 'Hepatic adenomas, familial', 'Combined oxidative phosphorylation deficiency 15', 'Microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome', 'Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant', 'Neuronopathy, distal hereditary motor, type VIIB', 'Ondontochondrodysplasia 2 with hearing loss and diabetes', 'Immunodeficiency 32A', 'Diarrhea 11, malabsorptive, congenital', 'Molybdenum cofactor deficiency, complementation group B', 'Myeloproliferative disorder, chronic, with eosinophilia', 'Micromelic bone dysplasia with cloverleaf skull', 'Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3', 'Pseudohypoparathyroidism, type IB', 'Aortic valve disease 3', 'Secretory component deficiency', 'Aortic aneurysm, familial thoracic 6', 'Fibrodysplasia ossificans progressiva', 'Polycystic liver disease 4 with or without kidney cysts', 'Yellow nail syndrome', 'Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance', 'INTERLEUKIN 1, DEFECTIVE T-CELL RESPONSE TO', 'Deafness, autosomal dominant 34, with or without inflammation', 'Epiphyseal dysplasia, multiple, 3, with or without myopathy', 'Congenital disorder of glycosylation, type IAA', 'Vasculitis, lymphocytic, nodular', 'Rhyns syndrome', 'Epilepsy, early-onset, vitamin b6-dependent', 'Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies', 'ENDOVE syndrome, limb-brain type', 'Osteogenesis imperfecta, type XIV', 'Watson syndrome', 'Congenital myopathy 15', 'Hyper-IgE recurrent infection syndrome 5, autosomal recessive', 'Diastasis recti and weakness of the linea alba', 'Osteopoikilosis and dacryocystitis', 'CHIME syndrome', 'Pseudohypoparathyroidism, type IA', 'PERCHING syndrome', 'Polyendocrine-polyneuropathy syndrome', 'Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections', 'Pontocerebellar hypoplasia, type 14', 'Growth hormone deficiency, isolated partial', 'Galloway-Mowat syndrome 6', 'Osteogenesis imperfecta, type V', 'Martinez-Frias syndrome', 'Congenital disorder of glycosylation with defective fucosylation 2', 'Microcephaly 22, primary, autosomal recessive', 'Osteopetrosis, autosomal recessive 6', 'Developmental delay with hypotonia, myopathy, and brain abnormalities', 'Mental retardation, skeletal dysplasia, and abducens palsy', 'Fever, familial lifelong persistent', 'Spastic tetraplegia and axial hypotonia, progressive', 'Central core disease', 'Weill-Marchesani syndrome 1', 'Methionine malabsorption syndrome', 'Osteogenesis imperfecta, type XII', 'Vasculopathy, retinal, with cerebral leukodystrophy', 'Hypertrichotic osteochondrodysplasia', 'Tyshchenko syndrome', 'Bleeding disorder, platelet-type, 13, susceptibility to', 'Immunodeficiency, common variable, 13', 'Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)', 'Cramps, familial adolescent', 'Leukocyte adhesion deficiency, type I', 'Disabling pansclerotic morphea of childhood', 'Agammaglobulinemia, X-linked', 'Thalassemia, beta+, silent allele', 'Intellectual developmental disorder, autosomal dominant 70', 'Pseudohypoparathyroidism, type IC', 'Pontocerebellar hypoplasia, type 2E', 'Aortic valve disease 1', 'Cardiomyopathy, dilated, 1B', 'Myopathy, congenital, nonprogressive', 'Developmental and epileptic encephalopathy 73', 'Cardiomyopathy, dilated, 2G', 'Neurodegeneration, childhood-onset, with brain atrophy', 'Cardiomyopathy, dilated, 3B', 'Epidermolysis bullosa, junctional, Herlitz type', 'Myopathy, autophagic vacuolar, infantile-onset', 'Roifman syndrome', 'Intellectual developmental disorder, autosomal recessive 60', 'Hypogonadism, male, with mental retardation and skeletal anomalies', 'Spondyloepiphyseal dysplasia with congenital joint dislocations', 'Glycogen storage disease V', 'Fibromuscular dysplasia of arteries', 'Citrulline transport defect', 'Noonan syndrome 11', 'Sialuria', 'Congenital heart defects, multiple types, 4', 'Epileptic encephalopathy, early infantile, 80', 'Short-rib thoracic dysplasia 15 with polydactyly', 'IVIC syndrome', 'Amyloidosis VI', 'Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development', 'Tenorio syndrome', 'Portal vein, cavernous transformation of', 'Hyperthyroidism, nonautoimmune', 'Pituitary dwarfism IV', 'Spondyloarthropathy, susceptibility to, 2', 'Fanconi anemia, complementation group I', 'Anhidrosis, isolated, with normal sweat glands', 'Pheochromocytoma-Islet cell tumor syndrome', 'Lymphoblastic leukemia, acute, with lymphomatous features', 'Cardiofaciocutaneous syndrome 1', 'Lipedema', 'Combined oxidative phosphorylation deficiency 51', 'Seizures, scoliosis, and macrocephaly/microcephaly syndrome', 'Premature centromere division', 'Hajdu-Cheney syndrome', 'Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities', 'Ovarian dysgenesis 4', 'Geroderma osteodysplasticum', 'Arterial tortuosity syndrome', 'Sudden infant death syndrome', 'Ehlers-Danlos syndrome, spondylodysplastic type, 2', 'Rauch-Steindl syndrome', 'Immunodeficiency 96', 'Achondroplasia, so-called, and severe combined immunodeficiency', 'Lymphoma, hodgkin', 'PYGMY', 'Hyper-IgE recurrent infection syndrome', 'Coffin-Siris syndrome 8', 'Microphthalmia, syndromic 9', 'Williams-Beuren region duplication syndrome', 'Cutaneous photosensitivity and colitis, lethal', 'Hyperekplexia 3', 'Spinocerebellar ataxia, autosomal recessive 23', 'Polycystic kidney disease 6 with or without polycystic liver disease', 'Yunis-Varon syndrome', 'Deafness, unilateral, with delayed endolymphatic hydrops', 'Tessadori-van Haaften neurodevelopmental syndrome 1', 'Salt and pepper developmental regression syndrome', 'T-SUBSTANCE ANOMALY', 'Alport syndrome, X-linked', 'Birk-Landau-Perez syndrome', 'Orthostatic hypotensive disorder, Streeten type', 'Monocyte chemotactic disorder', 'Osteoporosis-pseudoglioma syndrome', 'Nephrotic syndrome, type 11', 'Charcot-Marie-Tooth disease, demyelinating, type 1F', 'CHOREOACANTHOCYTOSIS', 'Mental retardation, autosomal dominant 47', 'Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment', 'Factor V excess with spontaneous thrombosis', 'Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies', 'Malouf syndrome', 'Cat eye syndrome', 'Nephrotic syndrome, type 22', 'Mucolipidosis IV', 'Periventricular heterotopia with microcephaly, autosomal recessive', 'Goodpasture syndrome', 'Microcephaly 21, primary, autosomal recessive', 'Hyperostosis, endosteal', 'Sucrosuria, hiatus hernia and mental retardation', 'Chromosome 3q29 deletion syndrome', 'Intellectual developmental disorder, autosomal dominant 51', 'PHEOCHROMOCYTOMA', 'Ichthyosis, congenital, autosomal recessive 4B', 'Muscle cramps, familial', 'Spondylo-megaepiphyseal-metaphyseal dysplasia', 'Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction', 'Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia', 'Hypomagnesemia, seizures, and mental retardation', 'Lissencephaly 7 with cerebellar hypoplasia', 'Loeys-Dietz syndrome 2', 'Myopathy with storage of glycoproteins and glycosaminoglycans', 'Nephrotic syndrome, type 14', 'Fraser syndrome 3', 'Trichodentoosseous syndrome', 'Familial cold autoinflammatory syndrome 4', 'Hypogonadotropic hypogonadism 9 with or without anosmia', 'Cardiomyopathy, dilated, 1E', 'Intellectual developmental disorder, autosomal dominant 33', 'Warburg micro syndrome 1', 'Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus', 'Leukodystrophy, childhood-onset, remitting', 'Osteogenesis imperfecta 21', 'Cornea plana 1', 'Acanthosis nigricans with muscle cramps and acral enlargement', 'Lymphedema, hereditary, II', 'Radial heads, posterior dislocation of', 'Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form', 'Polyglucosan body neuropathy, adult form', 'Chronic recurrent multifocal osteomyelitis', 'Hypophosphatemic rickets, X-linked recessive', 'Fibrochondrogenesis 2', 'Immunodeficiency, common variable, 14', 'Sick sinus syndrome 4', 'Intellectual developmental disorder, autosomal dominant 43', 'Dimethylglycine dehydrogenase deficiency', 'Osteoporosis, childhood- or juvenile-onset, with developmental delay', 'Gastroschisisabdominal wall defects, included', 'Mitochondrial DNA depletion syndrome 2 (myopathic type)', 'Adiposis dolorosa', 'Bartter syndrome, type 3', 'Amyotrophic lateral sclerosis 5, juvenile', 'Cardiac, facial, and digital anomalies with developmental delay', 'Proximal myopathy with focal depletion of mitochondria', '3-M syndrome 3', 'Epileptic encephalopathy, early infantile, 68', 'Hypoinsulinemic hypoglycemia with hemihypertrophy', 'Intellectual developmental disorder, autosomal recessive 41', 'Cardiomyopathy, dilated, 1S', 'Hereditary leiomyomatosis and renal cell cancer', 'Heterotaxy, visceral, 5', 'Fanconi anemia, complementation group N', 'Histiocytosis, progressive mucinous', 'Congenital heart defects, hamartomas of tongue, and polysyndactyly', 'Infantile cerebellar-retinal degeneration', 'Neutropenia, severe congenital, 2, autosomal dominant', 'Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities', 'Ehlers-Danlos syndrome, kyphoscoliotic type, 2', 'Intellectual developmental disorder, autosomal dominant 45', 'Progressive familial heart block, type IB', 'Immunodeficiency with hyper-igm, type 3', 'Ehlers-Danlos syndrome, Vascular type', 'Hyperproinsulinemia', 'Alpha-2-deficient collagen disease', 'Silver-Russell syndrome 1', 'Heterotaxy, visceral, 9, autosomal, with male infertility', 'Hutterite cerebroosteonephrodysplasia syndrome', 'Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease', 'Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects', 'Muckle-Wells syndrome', 'Myopathy, areflexia, respiratory distress, and dysphagia, early-onset', 'Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive', 'DYSOSTEOSCLEROSIS', 'Perrault syndrome 4', 'Neuropathy, congenital hypomyelinating, 1, autosomal recessive', 'Long QT syndrome 13', 'Lymphoid interstitial pneumonia', 'Loeys-Dietz syndrome 3', 'Inflammatory bowel disease (Crohn disease) 30', 'Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3', 'Ehlers-Danlos syndrome, classic-like, 2', 'Immunodeficiency 68', 'Periodic fever, menstrual cycle-dependent', 'Arrhythmogenic right ventricular dysplasia, familial, 11', 'Inflammatory bowel disease 1, Crohn disease', 'Congenital disorder of glycosylation, type Ij', 'Leber congenital amaurosis, type I', 'Leukodystrophy, hypomyelinating, 11', 'Pyle disease', 'Cardiomyopathy, dilated, 1D', 'Megalocornea-Mental retardation syndrome', 'Familial Mediterranean fever, AD', 'Mental retardation, autosomal recessive 53', 'Volvulus of midgut', 'Congenital myopathy 2B, severe infantile, autosomal recessive', 'Spondyloenchondrodysplasia with immune dysregulation', 'White sponge nevus 2', 'Angioma, hereditary neurocutaneousspinal arterial venous malformations with cutaneous hemangiomas, included', 'Muscular dystrophy, congenital, merosin deficient or partially deficient', 'Congenital disorder of glycosylation, type Ip', 'Brugada syndrome 3', 'Amyotrophic lateral sclerosis, juvenile, with dementia', 'Multisystemic smooth muscle dysfunction syndrome', 'Epileptic encephalopathy, early infantile, 40', 'Parkinson disease 4', 'Takenouchi-Kosaki syndrome', 'Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5', 'Developmental and epileptic encephalopathy 109', 'Short QT syndrome 1', 'Eosinophil peroxidase deficiency', 'Weill-Marchesani syndrome 2, dominant', 'Short-Rib thoracic dysplasia 5 with or without polydactyly', 'Neurodevelopmental disorder with hypotonia and dysmorphic facies', 'Osteogenesis imperfecta, type XVIII', 'Epistaxis, hereditary', 'Neurodegeneration with brain iron accumulation 4', 'Thyrotoxic periodic paralysis, susceptibility to, 2', 'Neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux', 'Venous malformations, multiple cutaneous and mucosal', 'Developmental and epileptic encephalopathy 102', 'Bethlem myopathy 1', 'Ehlers-Danlos syndrome, kyphoscoliotic type, 1', 'Inosine phosphorylase deficiency, immune defect due to', 'Renal glucosuria', 'Achondrogenesis, type II', 'Gastric adenocarcinoma and proximal polyposis of the stomach', 'Cardiomyopathy, familial hypertrophic, 6', 'Friedreich ataxia 1', 'Marinesco-Sjogren syndrome', 'Nemaline myopathy 3', 'Endocardial fibroelastosis and coarctation of abdominal aorta', 'Mucopolysaccharidosis VII', 'Neurodegeneration with ataxia and late-onset optic atrophy', 'Short QT syndrome 2', 'Rabin-Pappas syndrome', 'Nephronophthisis 3', 'Cardiac conduction disease with or without dilated cardiomyopathy', 'Nephronophthisis 13', 'Yao syndrome', 'Aneurysm, intracranial berry, 12', 'Lessel-Kreienkamp syndrome', 'Ehlers-Danlos syndrome, arthrochalasia type, 1', 'Spondyloepiphyseal dysplasia with punctate corneal dystrophy', 'Pontocerebellar hypoplasia, type 9', 'Alveolar capillary dysplasia with misalignment of pulmonary veins', 'Metaphyseal chondrodysplasia, Pena type', 'Cutis laxa, autosomal recessive, type IB', 'Aortic aneurysm, familial thoracic 10', 'Neurodevelopmental disorder with or without seizures and gait abnormalities', 'Polycystic ovary syndrome 1', 'Rheumatoid arthritis', 'Popliteal cyst', 'Ciliary discoordination due to random ciliary orientation', 'Arrhythmogenic right ventricular dysplasia, familial, 9', 'Microcephaly, developmental delay, and brittle hair syndrome', 'Neural tube defects, folate-sensitive', 'Megacystis-microcolon-intestinal hypoperistalsis syndrome 1', 'Maturity-onset diabetes of the young, type III', 'Ritscher-Schinzel syndrome 1', 'Magnesium, elevated red cell', 'Zinc, elevated plasma', 'AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF', 'Acetylation, slow', 'Neuronal intestinal dysplasia, type B', 'Sodium-Potassium-Atpase activity of red cell', 'HYPOASCORBEMIA', 'Paraoxonase 1', 'Drug metabolism, altered, CES1-related', 'Charcot-Marie-Tooth disease, axonal, type 2K', 'Polysaccharide, storage of unusual', 'Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay', 'Aortic aneurysm, familial thoracic 8', 'Surfactant metabolism dysfunction, pulmonary, 1', 'Neutrophil actin dysfunction', 'Arrhythmogenic right ventricular dysplasia, familial, 10', 'Immunodeficiency 93 and hypertrophic cardiomyopathy', 'Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis', 'Pulmonary hypertension, primary, 4', 'Atrial fibrillation, familial, 3', 'Noonan syndrome 7', 'Osteogenesis imperfecta, type VII', 'Cerebral amyloid angiopathy, APP-related', 'Cardiomyopathy, familial hypertrophic 27', 'Spinal muscular atrophy with progressive myoclonic epilepsy', 'Cardiomyopathy, dilated, 1P', 'Nephronophthisis 12', 'Oocyte maturation defect 2', 'Telangiectasia, hereditary hemorrhagic, type 4', 'Spinal arachnoiditis', 'Purpura simplex', 'Plasma clot retraction factor, deficiency of', 'Brugada syndrome 1', 'Neurocardiofaciodigital syndrome', 'Arthrogryposis multiplex congenita with whistling face', 'Filaminopathy, autosomal dominant', 'Spondylocostal dysostosis, autosomal recessive 1', 'Hyperprolactinemia', 'Acute promyelocytic leukemia', 'Mosaic variegated aneuploidy syndrome 1', 'Spinal muscular atrophy, distal, autosomal recessive, 4', 'Thrombophilia due to protein C deficiency, autosomal recessive', 'Boudin-Mortier syndrome', 'Aneurysm, intracranial berry, 1', 'Noonan syndrome 2', 'Visceral myopathy 2', 'MEDULLOBLASTOMA', 'Amyotrophic lateral sclerosis with polyglucosan bodies', 'Meckel syndrome, type 10', 'Ethanolaminosis', 'Immunodeficiency with hyper-igm, type 2', 'Corneal hypesthesia with retinal abnormalities, sensorineural deafness,unusual facies, persistent ductus arteriosus, and mental retardation', 'Hypocalcemia, autosomal dominant 2', 'Agammaglobulinemia 4, autosomal recessive', 'Intellectual developmental disorder with or without peripheral neuropathy', 'Senior-Loken syndrome 8', 'Roifman-Chitayat syndrome', 'Long QT syndrome 3', 'Neurodegeneration, childhood-onset, with cerebellar atrophy', 'Atrial fibrillation, familial, 13', 'Factor VII and factor VIII, combined deficiency of', 'Infundibulopelvic dysgenesis', 'Diaphragmatic hernia 4, with cardiovascular defects', 'Glutamate monosodium sensitivity', 'Prader-Willi syndrome', 'Salla disease', 'Cerebral sclerosis similar to pelizaeus-merzbacher disease', 'Neutropenia, nonimmune chronic idiopathic, of adults', 'Amyotrophic lateral sclerosis 9', 'Congenital arthrogryposis with anterior horn cell disease', 'Neuropathy, hereditary sensory and autonomic, type V', 'Shashi-Pena syndrome', 'Fingerprint body myopathy', 'Striatonigral degeneration, infantile, mitochondrial', 'Thyroid hormonogenesis, genetic defect in, 1', 'Erythrocyte lactate transporter defect', 'Pseudouridinuria and mental defect', 'Thyrotropin-Releasing hormone deficiency', 'Lymphoblastic transformation, intrinsic defect in', 'Lymphoblastic transformation, inhibition of', 'Lymphokine deficiency', 'Galloway-Mowat syndrome 8', 'Agammaglobulinemia 10, autosomal dominant', 'Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2', 'Hyper-IgE recurrent infection syndrome 3, autosomal recessive', 'Combined oxidative phosphorylation deficiency 57', 'Contractures, congenital, torticollis, and malignant hyperthermia', 'Long QT syndrome 6', 'Ichthyosis, congenital, autosomal recessive 5', 'Ogden syndrome', 'Bryant-Li-Bhoj neurodevelopmental syndrome 2', 'Myoglobinuria, autosomal dominant', 'Undritz anomaly', 'Left ventricular noncompaction 8', 'Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies', 'Lymphatic malformation 8', 'Meckel syndrome, type 4', 'Cystinuria', 'Spastic paralysis, infantile-onset ascending', 'Choanal atresia and lymphedema', 'Immunodeficiency 77', 'Bardet-Biedl syndrome 19', 'Winchester syndrome', 'Coronary artery dissection, spontaneous', 'Cockayne syndrome A', 'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2', 'Cleft-Limb-Heart malformation syndrome', 'Mental retardation, autosomal dominant 7', 'Thyroid hormonogenesis, genetic defect in, 5', 'Hooft disease', 'Cardiomyopathy, dilated, 2H', 'Hemorrhagic destruction of the brain, subependymal calcification,and cataracts', 'Kaposi sarcoma, susceptibility to', 'Hypoparathyroidism, familial isolated', 'Corneal dystrophy, fuchs endothelial, 2', 'Temple-Baraitser syndrome', 'Developmental delay, hypotonia, and impaired language', 'Bardet-Biedl syndrome 1', 'Dysostosis multiplex, Ain-Naz type', 'Abdominal obesity-metabolic syndrome quantitative trait locus 2', 'Abdominal obesity-metabolic syndrome 1', 'Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects', 'Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness', 'Joubert syndrome 6', 'Immunodeficiency-110 with lymphoproliferation', 'Amyotrophic lateral sclerosis and/or frontotemporal dementia 1', 'Xeroderma pigmentosum, complementation group G', 'Angioedema, hereditary, 5', 'Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies', 'Angioedema, hereditary, 6', 'Brugada syndrome 2', 'Paganini-Miozzo syndrome', 'Mannosidosis, beta', 'Lymphatic malformation 11', 'Immunodeficiency 18', 'Myopathy, myofibrillar, 7', 'Immunodeficiency 11B with atopic dermatitis', 'Emery-Dreifuss muscular dystrophy 4, autosomal dominant', 'Atrial septal defect 1', 'Renal tubular acidosis, distal, with progressive nerve deafness', 'Faundes-Banka syndrome', 'Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone', 'Spondylocostal dysostosis 5', 'Combined oxidative phosphorylation deficiency 35', 'Contractural arachnodactyly, congenital', 'Heterotaxy, visceral, 8, autosomal', 'Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6', 'Cardiac arrhythmia, ankyrin-B-related', 'Glycosylphosphatidylinositol biosynthesis defect 11', 'Vissers-Bodmer syndrome', 'Congenital disorder of glycosylation, type IIa', 'Dentin dysplasia with sclerotic bones', 'Hypocalciuric hypercalcemia, familial, type II', 'Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1', 'Arrhythmogenic right ventricular dysplasia, familial, 5', 'Neuropathy, hereditary sensory and autonomic, type VI', 'Epileptic encephalopathy, early infantile, 29', 'Vertebral anomalies and variable endocrine and T-cell dysfunction', 'Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis', 'Chromosome 19q13.11 deletion syndrome, proximal', 'Aortic aneurysm, familial thoracic 12', 'Glycosylphosphatidylinositol biosynthesis defect 18', 'Meier-Gorlin syndrome 6', 'Fructose and galactose intolerance', 'Brugada syndrome 4', 'ACTH-independent macronodular adrenal hyperplasia', 'Immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis', 'Hennekam lymphangiectasia-lymphedema syndrome 3', 'Lymphatic malformation 4', 'Sick sinus syndrome 2', 'Wolf-Hirschhorn syndrome', 'Meckel syndrome, type 5', 'Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures', 'Meckel syndrome 1', 'Metachromatic leukodystrophy', 'Nephronophthisis 14', 'Aortic aneurysm, familial thoracic 7', 'UV-sensitive syndrome 2', 'Leukodystrophy, hypomyelinating, 3', 'Hypohidrosis with abnormal palmar dermal ridges', 'Myopathy, sarcoplasmic body', 'Esophageal ring, lower', 'Joubert syndrome 9', 'Carnitine deficiency, myopathic', 'Leukodystrophy, hypomyelinating, 15', 'Muscular dystrophy, limb-girdle, type 2A', 'Hyperferritinemia with or without cataract', 'Pancreas, annular', 'Drug metabolism, poor, cyp2d6-relateddrug metabolism, ultrarapid, cyp2d6-related, included', 'Tinea imbricata, susceptibility to', 'Glomuvenous malformations', 'Collagenosis, familial reactive perforating', 'White sponge nevus 1', 'Progesterone resistance', 'GONADOBLASTOMA', 'Amyloidosis, cutaneous bullous', 'Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities', 'Kabuki syndrome 1', 'Holoprosencephaly 11', 'Hyper-IgE recurrent infection syndrome 4, autosomal recessive', 'Meckel syndrome, type 2', 'Neurodevelopmental disorder with dystonia and seizures', 'Fundus albipunctatus', 'Deafness, sensorineural, Autosomal-Mitochondrial type', 'Vertebral fusion, posterior lumbosacral, with blepharoptosis', 'Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities', 'Autoimmune disease, multisystem, infantile-onset, 2', 'Long QT syndrome 1', 'Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia', 'Cardiac conduction defectsudden cardiac death, included', 'Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies', 'Maturity-onset diabetes of the young, type 4', 'Maturity-onset diabetes of the young, type VII', 'Coarctation of aorta', 'Myotonic dystrophy 1', 'Atrophoderma vermiculata', 'Heterotaxy, visceral, 6, autosomal', 'Retinitis pigmentosa 44', 'Neutropenia, lethal congenital, with eosinophilia', 'Immunodeficiency 86, mycobacteriosis', 'King-Denborough syndrome', 'Visceral neuropathy, familial, 2, autosomal recessive', 'Neuropathy, hereditary sensory and autonomic, type VII', 'Pierson syndrome', 'Heterotopia, periventricular, X-linked dominant', 'Migraine with or without aura, susceptibility to, 12', 'Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1', 'Superior transverse scapular ligament, calcification of, familial', 'Charcot-Marie-Tooth disease, axonal, type 2P', 'Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia', 'Amyotrophic lateral sclerosis, susceptibility to, 25', 'Long QT syndrome 5', 'Sjogren syndrome', 'Congenital disorder of glycosylation, type IIN', 'Alopecia areata 2', 'Lymphatic malformation 2', 'Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9', 'Emery-Dreifuss muscular dystrophy 5, autosomal dominant', 'Yuan-Harel-Lupski syndrome', 'Hemangiomas, cavernous, of face and supraumbilical midline raphe', 'Short-Rib thoracic dysplasia 6 with or without polydactyly', 'Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies', 'Lymphatic malformation 10', 'Seckel syndrome 2', 'Leukemia, acute, ?x-linked', 'Wrinkly skin syndrome', 'Multiple endocrine neoplasia 1', 'Arterial dissection with lentiginosis', 'Hypogonadotropic hypogonadism 2 with or without anosmia', 'D-2-hydroxyglutaric aciduria 2', 'Structural heart defects and renal anomalies syndrome', 'Amyotrophic lateral sclerosis, susceptibility to, 24', 'Cold-Induced sweating syndrome 2', 'Beckwith-Wiedemann syndrome', 'Myasthenic syndrome, congenital, 22', 'Brachydactyly, type A1, C', 'Long QT syndrome 12', 'Costello syndrome', 'Migraine without aura, susceptibility to, 4', 'Carey-Fineman-Ziter syndrome', 'Platelet responsiveness to adrenaline, depressed', 'Muscular dystrophy, limb-girdle, type 2W', 'Luo-Schoch-Yamamoto syndrome', 'Developmental and epileptic encephalopathy 101', 'Peroxisome biogenesis disorder 1A (Zellweger)', 'Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced', 'Aortic aneurysm, familial thoracic 9', 'Fanconi anemia, complementation group B', 'Pa polymorphism of alpha-2-globulin', 'Spondylometaphyseal dysplasia, axial', 'Intellectual developmental disorder, autosomal dominant 68', 'Neutropenia, chronic familial', 'Uruguay faciocardiomusculoskeletal syndrome', 'N-acetylaspartate deficiency', 'Complement factor H deficiency', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4', 'Hypogonadotropic hypogonadism 8 with or without anosmia', 'Potocki-Lupski syndrome', 'Osteogenesis imperfecta, type III', 'Migraine with or without aura, susceptibility to, 3', 'Migraine with or without aura, susceptibility to, 11', 'Migraine with or without aura, susceptibility to, 5', 'Migraine with or without aura, susceptibility to, 1', 'Migraine, familial typical, susceptibility to, 2', 'Migraine with or without aura, susceptibility to, 10', 'Pituitary hormone deficiency, combined, 4', 'Atrial fibrillation, familial, 9', 'Heyn-Sproul-Jackson syndrome', 'Maturity-onset diabetes of the young, type IX', 'Maturity-onset diabetes of the young 6', 'Developmental delay, language impairment, and ocular abnormalities', 'Hypoparathyroidism, familial isolated 2', 'Krabbe disease, atypical, due to saposin A deficiency', 'Cutis laxa, autosomal recessive, type IIIB', 'Immunodeficiency 8', 'Multicentric carpotarsal osteolysis syndrome', 'Cardiomyopathy, dilated, 1O', 'AMME complex', 'Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies', 'Methemoglobinemia and ambiguous genitalia', 'Dystonia, juvenile-onset', 'Marfanoid habitus with situs inversus', 'Okur-Chung neurodevelopmental syndrome', 'Cardiomyopathy, familial restrictive, 3', 'Hypouricemia, hypercalcinuria, and decreased bone density', 'Bronchiectasis with or without elevated sweat chloride 1', 'Bronchiectasis with or without elevated sweat chloride 2', 'Developmental and epileptic encephalopathy 31B, autosomal recessive', 'Neurodevelopmental disorder with hyperkinetic movements and dyskinesia', 'Premature aging syndrome, Penttinen type', 'Sinoatrial node dysfunction and deafness', 'Noonan syndrome-like disorder with loose anagen hair 2', 'Septooptic dysplasia', 'Cardiomyopathy, familial hypertrophic, 28', 'Menkes disease', 'Pili torti, early-onset', 'Long QT syndrome 9', 'Cardiomyopathy, dilated, 1G', \"O'donnell-Luria-Rodan syndrome\", 'Immunodeficiency, X-linked, with deficiency of 115,000 dalton surfaceglycoprotein', 'Buschke-Ollendorff syndrome', 'Phosphoserine aminotransferase deficiency', 'Erythermalgia, primary', 'Atrial fibrillation, familial, 10', 'Immunodeficiency 95', 'Mucopolysaccharidosis, type IIID', 'Faciocardiomelic dysplasia, lethal', 'Gastroesophageal reflux', 'Spondyloepimetaphyseal dysplasia, sponastrime type', 'Myopathy, vacuolar, with CASQ1 aggregates', 'Takayasu arteritis', 'Short QT syndrome 7', 'Cardiomyopathy, dilated, 1K', 'Charcot-Marie-Tooth disease, dominant intermediate B', 'Adams-Oliver syndrome 1', 'Macular edema, cystoid', 'Hyperphosphatasia with mental retardation syndrome 2', 'Pancreatic cancer', 'Microcephaly 26, primary, autosomal dominant', 'Agammaglobulinemia 7, autosomal recessive', 'Heterotaxy, visceral, 11, autosomal, with male infertility', 'MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4', 'Summitt syndrome', 'Arthrogryposis, distal, type 1C', 'Congenital myopathy 22B, severe fetal', 'Diabetes mellitus, transient neonatal 2', 'Primary lateral sclerosis, juvenile', 'Myopathy, granulovacuolar lobular, with electrical myotonia', 'Cutis laxa, autosomal recessive, type IIIA', 'Cardiomyopathy, dilated, 1X', 'Myopathy, distal, infantile-onset', 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant', 'Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2', 'Braddock-Carey syndrome 1', 'Carbimazole sensitivity', 'Immunodeficiency due to defect in mapbp-interacting protein', 'Cutaneous mastocytosis, conductive hearing loss, and microtia', 'Myasthenic syndrome, congenital, 17', 'Arthrogryposis, distal, type 7', 'Long QT syndrome 2', 'Granulomatous disease with defect in neutrophil chemotaxis', 'Congenital disorder of glycosylation, type IIq', 'Intellectual developmental disorder, autosomal recessive 73', 'Ehlers-Danlos syndrome, spondylodysplastic type, 1', 'Arthrogryposis multiplex congenita 3, myogenic type', 'Heart block, congenital', 'Dystrophia myotonica 2', 'Papilloma of choroid plexus', 'Leukodystrophy, hypomyelinating, 14', 'Cardiomyopathy, dilated, 1DD', 'Glucocorticoid deficiency 3', 'Sudden infant death with dysgenesis of the testes syndrome', 'Hypertrophic osteoarthropathy, primary, autosomal dominant', 'Verheij syndrome', 'Thymic-Renal-Anal-Lung dysplasia', 'Vacuolar neuromyopathy', 'Cardiomyopathy, dilated, 1M', 'Moyamoya disease 5', 'Brugada syndrome 9', 'Left ventricular noncompaction 10', 'Bardet-Biedl syndrome 20', 'Dent disease 1', 'Cole-Carpenter syndrome 2', 'Meier-Gorlin syndrome 8', 'Cataract 22, multiple types', 'Epidermolysis bullosa pruriginosa', 'Familial dysalbuminemic hyperthyroxinemia', 'Long QT syndrome 8', 'Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy', 'Angioedema, hereditary, 4', 'Turnpenny-Fry syndrome', 'Jervell and Lange-Nielsen syndrome 2', 'Cardiomyopathy, familial hypertrophic 1', 'Ribbing disease', 'Anus, imperforate', 'Wolff-Parkinson-White syndrome', 'Neurodevelopmental disorder with poor growth and behavioral abnormalities', 'Fructosuria, essential', 'Congenital myopathy 21 with early respiratory failure', 'Growth retardation, developmental delay, coarse facies, and earlydeath', 'Epidermodysplasia verruciformis, susceptibility to, 1', 'Congenital myopathy 5 with cardiomyopathy', 'Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormalpalmar creases', 'Fatty liver disease, nonalcoholic, susceptibility to, 2', 'Fatty liver disease, nonalcoholic, susceptibility to, 1', 'Cenani-Lenz syndactyly syndrome', 'Hyperalphalipoproteinemia 2', 'C5 deficiency', 'Immunodeficiency 58', 'IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1', 'Nevoid hypermelanosis, linear and whorled', 'Leber congenital amaurosis 13', 'Osteoglophonic dysplasia', 'Cardiomyopathy, dilated, 1U', 'Camptodactyly, tall stature, and hearing loss syndrome', 'Cardiomyopathy, dilated, 1nn', 'Tetra-Amelia with ectodermal dysplasia and lacrimal duct abnormalities', 'Inflammatory bowel disease 28, early onset, autosomal recessive', 'Blau syndrome', 'Ataxia with isolated vitamin E deficiency', 'CHOPS syndrome', 'Intellectual developmental disorder, autosomal recessive 5', 'Carboxypeptidase N deficiency', 'Hadziselimovic syndrome', 'Mental retardation, autosomal dominant 50', 'Mitochondrial myopathy with A defect in mitochondrial-protein transport', 'Thoracolaryngopelvic dysplasia', 'Rothmund-thomson syndrome, type 1', 'Bardet-Biedl syndrome 2', 'Hypocalciuric hypercalcemia, familial, type I', 'Agammaglobulinemia 2, autosomal recessive', 'THREONINEMIA', 'Immunodeficiency 24', 'Ventricular tachycardia, catecholaminergic polymorphic, 3', 'Holoprosencephaly 1', 'Keutel syndrome', 'Myopathy, distal, with anterior tibial onset', 'Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency', 'Moyamoya disease 1', 'N syndrome', 'Progressive familial heart block, type II', 'Congenital heart defects, multiple types, 3', 'Triglyceride storage disease, type II', 'Ventricular tachycardia, catecholaminergic polymorphic, 4', 'Atrial fibrillation, familial, 1', 'Hermansky-Pudlak syndrome 1', 'Myosclerosis, autosomal recessive', 'Leukodystrophy, hypomyelinating, 12', 'Long QT syndrome 11', 'Lissencephaly 4', 'KINSSHIP syndrome', 'B-CELL MALIGNANCY, LOW-GRADE', 'Myelocytic leukemia-like syndrome, familial, chronic', 'Immunoskeletal dysplasia with neurodevelopmental abnormalities', 'Lymphatic malformation 1', 'Cardiomyopathy, dilated, 1EE', 'Cutis laxa, autosomal recessive, type IA', 'Timothy syndrome', 'Tremor of intention, ataxia, and lipofuscinosis', 'Neurodevelopmental disorder with spastic diplegia and visual defects', 'Temporal arteritis', 'Cardiomyopathy, dilated, 2B', 'PENTOSURIA', 'Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus', 'Osteochondrodysplasia', 'Neuropathy, hereditary sensory and autonomic, type II', 'Card11 immunodeficiency', 'Miller-Dieker lissencephaly syndrome', 'Mosaic variegated aneuploidy syndrome 4', 'Jervell and Lange-Nielsen syndrome 1', 'Neurodevelopmental disorder with central and peripheral motor dysfunction', 'Cardiospondylocarpofacial syndrome', 'Mental retardation with language impairment and with or without autistic features', 'RETINOBLASTOMA', 'Syncope, familial vasovagal', 'Osteogenesis imperfecta, type X', 'Ulna metaphyseal dysplasia syndrome', 'Megacystis-microcolon-intestinal hypoperistalsis syndrome 4', 'Collagenoma, familial cutaneous', 'Mannose 6-phosphate receptor recognition defect, Lebanese type', 'Amyotrophic lateral sclerosis 19', 'Peho syndrome', 'Hypertrophic neuropathy of dejerine-sottas', 'Cardiomyopathy, dilated, 1J', 'Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities', 'Polysyndactyly with cardiac malformation', 'Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency', 'Achondrogenesis, type IA', 'Cardiomyopathy, dilated, 1GG', 'Arrhythmogenic right ventricular dysplasia, familial, 8', 'Muscular dystrophy, limb-girdle, type 2F', 'Spinal muscular atrophy, type II', 'Pycnodysostosis', 'Craniosynostosis 1', 'Striatonigral degeneration, childhood-onset', 'Amyotrophic lateral sclerosis 11', 'Bardet-Biedl syndrome 6', 'Cranial nerves, recurrent paresis of', 'Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities', 'Geleophysic dysplasia 3', 'TARP syndrome', 'Asthma, short stature, and elevated iga', 'Alpha-Thalassemia myelodysplasia syndrome', 'Left ventricular noncompaction 1', 'Carotenemia, familial', 'Congenital heart defects and skeletal malformations syndrome', 'Oculopharyngeal muscular dystrophy', 'Ventricular tachycardia, catecholaminergic polymorphic, 2', 'Cardiomyopathy, dilated, 1A', 'Megacystis-microcolon-intestinal hypoperistalsis syndrome 2', 'Maturity-onset diabetes of the young, type 1', 'Maturity-onset diabetes of the young, type II', 'Diabetes mellitus, insulin-dependent, 2', 'Koolen-De Vries syndrome', 'Orofaciodigital syndrome XVII', 'Narcolepsy 7', 'Arthrogryposis, distal, type 4', 'Trichorhinophalangeal syndrome, type III', 'Perrault syndrome 1', 'Mitochondrial DNA depletion syndrome 11', 'Schaaf-Yang syndrome', 'Phosphoglycerate mutase, muscle, deficiency of', 'Hyperaldosteronism, familial, type II', 'Peters-plus syndrome', 'Long QT syndrome 16', 'Immunodeficiency with hyper IgM, type 5', 'Cysteine peptiduria', 'Right pulmonary artery, anomalous origin of, familial', 'Raine syndrome', 'Brain malformations with or without urinary tract defects', 'Jacobsen syndrome', 'Long QT syndrome 15', 'Combined cellular and humoral immune defects with granulomas', 'Cutis laxa, autosomal dominant 2', 'Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14', 'Retinitis pigmentosa', 'Spondylometaphyseal dysplasia, Pagnamenta type', 'Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures', 'Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction', 'Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies', 'Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type', 'Amyotrophic lateral sclerosis 2, juvenile', 'Cranioectodermal dysplasia 3', 'Short QT syndrome 3', 'Epileptic encephalopathy, early infantile, 35', 'Brachydactyly, type A2, with microcephaly', 'EPILEPSY-TELANGIECTASIA', 'Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities', 'Coffin-Siris syndrome 4', 'Muscular dystrophy, limb-girdle, type 2E', 'Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline', 'Mulchandani-Bhoj-Conlin syndrome', 'Factor IX and factor XI, combined deficiency of', 'Loeys-Dietz syndrome 6', 'Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes', 'Cerebrooculofacioskeletal syndrome 4', 'Congenital disorder of glycosylation, type I/IIx', 'Growth hormone insensitivity with immune dysregulation 2, autosomal dominant', 'Sclerosteosis 2', 'Noonan syndrome 3', 'Fetal akinesia deformation sequence 3', 'Muscular dystrophy, limb-girdle, autosomal recessive 25', 'Brugada syndrome 6', 'Angioedema, hereditary, 7', 'Schinzel-Giedion midface-retraction syndrome', 'Glycogen storage disease 0, muscle', 'Retinal telangiectasia and hypogammaglobulinemia', 'Muscular dystrophy, limb-girdle, type 2D', 'Pierre Robin syndrome', 'Nail disorder, nonsyndromic congenital, 3', 'Pigmented paravenous chorioretinal atrophy', 'Breasts and/or nipples, aplasia or hypoplasia of, 1', 'Migraine with or without aura, susceptibility to, 6', 'Hypertension and brachydactyly syndrome', 'Cataract 33, multiple types', 'Immunodeficiency 37', 'Mitral valve prolapse 1', 'Meier-Gorlin syndrome 3', 'Centronuclear myopathy 5', 'Cardiomyopathy, dilated, 1V', 'Smith-Mccort dysplasia 2', 'Mass syndrome', 'Loeys-Dietz syndrome 5', 'Intellectual developmental disorder, autosomal recessive 76', 'Epidermolytic hyperkeratosis', 'Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia', 'Erythrokeratodermia variabilis et progressiva 1', 'Raynaud disease', 'Arrhythmogenic right ventricular dysplasia 12', 'Ramon syndrome', 'Internal carotid arteries, hypoplasia of', 'Cardiomyopathy, familial hypertrophic, 17', 'Leukemia, acute myeloid', 'Pancreatic cancer, susceptibility to, 1', 'Cutis laxa, autosomal recessive, type IIA', 'Epidermodysplasia verruciformis, susceptibility to, 5', 'Complement component 2 deficiency', 'Cardiomyopathy, familial hypertrophic, 11', 'Progressive familial heart block, type IA', 'Aortic aneurysm, familial thoracic 11, susceptibility to', 'Ulnar agenesis and endocardial fibroelastosis', 'Inclusion body myositis', 'Myopathy, reducing body, X-linked, childhood-onset', 'Nonaka myopathy', 'Acrofacial dysostosis, Cincinnati type', 'Cutis laxa, autosomal recessive, type IID', 'Complement component 4A deficiency', 'Mental retardation, X-linked 19', 'Myasthenia, congenital, refractory to acetylcholinesterase inhibitors', 'Epileptic encephalopathy, early infantile, 66', 'Riddle syndrome', 'HSD10 mitochondrial disease', 'Erythroderma, ichthyosiform, congenital reticular', 'Cardiomyopathy, dilated, 2A', 'Immunodeficiency, common variable, 5', 'Hernia, hiatus', 'Mitral valve prolapse, myxomatous 2', 'Mitral valve prolapse, myxomatous 3', 'Cardiomyopathy, familial hypertrophic, 26', 'Charcot-Marie-Tooth disease, type 4A', 'Dicarboxylicamino aciduria', 'Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum', 'Hyperphenylalaninemia, BH4-deficient, B', 'Juvenile myelomonocytic leukemia', 'Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome', 'Cardiomyopathy, dilated, 1BB', 'Dystonia 4, torsion, autosomal dominant', 'Bartter syndrome, type 4B, neonatal, with sensorineural deafness', 'Mckusick-Kaufman syndrome', 'Hyperlysinemia due to defect in lysine transport into mitochondria', 'Schneckenbecken dysplasia', 'Leptin receptor deficiency', 'Myopathy, proximal, and ophthalmoplegia', 'Optic atrophy--spastic paraplegia syndrome', 'Cerebral cavernous malformations 2', 'Episodic ataxia, type 3', 'Legius syndrome', 'Congenital myopathy 20', 'Currarino syndrome', 'Refsum disease', 'Dystonia, dopa-responsive, due to sepiapterin reductase deficiency', 'Hyperinsulinemic hypoglycemia, familial, 3', 'Bardet-Biedl syndrome 13', 'Skeletal dysplasia with delayed epiphyseal and carpal bone ossification', 'Aneurysm of interventricular septum', 'Amyloidosis of gingiva and conjunctiva, with mental retardation', 'GABA-transaminase deficiency', 'Microcephaly 13, primary, autosomal recessive', 'Lymphedema, cardiac septal defects, and characteristic facies', 'Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome', 'Mucopolysaccharidosis, type X', 'Cardiomyopathy, dilated, 1OO', 'Galloway-mowat syndrome 1', 'TYROSINOSIS', 'Ehlers-Danlos syndrome, spondylodysplastic type, 3', 'Spastic paraplegia 9A, autosomal dominant', 'Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1', 'Congenital disorder of glycosylation, type Iu', 'Thrombophilia due to decreased release of tissue plasminogen', 'Scheie syndrome', 'Hyperphenylalaninemia, bh4-deficient, C', 'Leukodystrophy, hypomyelinating, 16', 'Cystic angiomatosis of bone, diffuse', 'Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects', 'Leukemia, acute myelocytic, with polyposis coli and colon cancer', 'Lymphatic malformation 12', 'Oocyte maturation defect 7', 'Rigid spine muscular dystrophy 1', 'Epileptic encephalopathy, early infantile, 21', 'Muscular dystrophy, limb-girdle, type 2Q', 'Carpenter syndrome 1', 'Lipomatosis, multiple symmetric, with or without peripheral neuropathy', 'Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction', 'Tumoral calcinosis, hyperphosphatemic, familial, 1', 'Atrial septal defect 4', 'Charcot-Marie-Tooth disease, recessive intermediate C', 'Hyperphosphatasia with mental retardation', 'Fibrinolytic defect', 'Maple syrup urine disease, mild variant', 'Glioma susceptibility 3', 'Cluster headache, familial', 'Kaufman oculocerebrofacial syndrome', 'Pacman dysplasia', 'Pontocerebellar hypoplasia, type 1D', 'Agammaglobulinemia 8, autosomal dominant', 'Stuve-Wiedemann syndrome', 'Transient bullous dermolysis of the newborn', 'Hyperekplexia 1', 'Epidermolysis bullosa dystrophica, pretibial', 'Myopathy, congenital, with fast-twitch (type II) fiber atrophy', 'HYPERLEXIA', 'Multicentric osteolysis, nodulosis, and arthropathy', 'Aneurysm, intracranial berry, 3', 'Orthostatic hypotension 1, due to DBH deficiency', 'Microcephalic osteodysplastic primordial dwarfism, type I', 'Rhabdomyolysis, susceptibility to, 1', 'Spondyloepimetaphyseal dysplasia, Strudwick type', 'Cardiac septal defects with coarctation of the aorta', 'Paragangliomas 6', 'Patent ductus arteriosus 3', 'Patent ductus arteriosus 1', 'Thyroid hormone metabolism, abnormal, 3', 'SARCOSINEMIA', 'Chondrodysplasia punctata 2, X-linked dominant', 'Amyloidosis, primary localized cutaneous, 2', 'FANCONI ANEMIA, COMPLEMENTATION GROUP U', 'Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15', 'Arrhythmogenic right ventricular dysplasia, familial, 14', 'Lymphedema-Distichiasis syndrome', 'Radiculoneuropathy, fatal neonatal', 'Intellectual developmental disorder, autosomal recessive 64', 'Microcephaly 10, primary, autosomal recessive', 'Cataract 46, juvenile-onset', 'Fg syndrome 4', 'Joint contracture, osteochondromas, and B-cell lymphoma', 'Diencephalic-mesencephalic junction dysplasia syndrome 2', 'Cardiomyopathy, familial hypertrophic, 16', 'Atrial fibrillation, familial, 18', 'Capillary malformation-arteriovenous malformation 1', 'Cardiomyopathy, familial hypertrophic, 10', 'Circumvallate placenta syndrome', 'Cyclic vomiting syndrome', 'Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination', 'Say syndrome', 'Mental retardation, autosomal recessive 18', 'Microcephaly-Capillary malformation syndrome', 'Cohen syndrome', 'Brugada syndrome 5', 'Retinitis pigmentosa 7', 'Microcephaly, short stature, and polymicrogyria with or without seizures', 'Amyotrophic lateral sclerosis 16, juvenile', 'Spinocerebellar ataxia, autosomal recessive 1', 'Autoimmune interstitial lung, joint, and kidney disease', 'Spastic paraplegia 30, autosomal recessive', 'Hermansky-Pudlak syndrome 11', 'Restrictive dermopathy 2', 'Gamma-A-Globulin, defect in assembly of', 'Cataract 16, multiple types', 'Mismatch repair cancer syndrome 2', 'Neu-Laxova syndrome 2', 'Ventricular fibrillation, paroxysmal familial, 2', 'Arthrogryposis, distal, with impaired proprioception and touch', 'Primrose syndrome', 'Hyperparathyroidism 1', 'Deafness, sensorineural, with peripheral neuropathy and arterial disease', 'Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3', 'Complement component 3 deficiency, autosomal recessive', 'Chromosome 17q11.2 duplication syndrome, 1.4-Mb', 'Marsili syndrome', 'Methylmalonic aciduria, transient, due to transcobalamin receptor defect', 'Ehlers-Danlos syndrome, dermatosparaxis type', 'Polymicrogyria with or without vascular-type EDS', 'Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1', 'Schizophrenia 4', 'Atrial standstill 1', 'Retinitis pigmentosa 6', 'Osteodysplasty, precocious, of danks, mayne, and kozlowski', 'Amelia and terminal transverse hemimelia', 'Diaphanospondylodysostosis', 'Nemaline myopathy 1', 'Feingold syndrome 1', 'Lowry-Wood syndrome', 'Epilepsy, familial temporal lobe, 5', 'Zimmermann-Laband syndrome 1', 'Paramyotonia congenita', 'Lymphedema-Hypoparathyroidism syndrome', 'Rigidity and multifocal seizure syndrome, lethal neonatal', 'Glucocorticoid deficiency 2', 'Steinfeld syndrome', 'Myopathy, myofibrillar, 4', 'Fetal iodine deficiency disorder', 'Intellectual developmental disorder with cardiac arrhythmia', 'Cardiomyopathy, familial hypertrophic, 14', 'Neutropenia, severe congenital 3, autosomal recessive', 'Melkersson-Rosenthal syndrome', 'Pituitary hormone deficiency, combined or isolated, 7', 'Lethal congenital contracture syndrome 8', 'Megacystis-microcolon-intestinal hypoperistalsis syndrome 3', 'Pelvic organ prolapse', 'Premature chromatid separation trait', 'Nathalie syndrome', 'INTUSSUSCEPTION', 'Epileptic encephalopathy, early infantile, 77', 'VISS syndrome', 'Lethal congenital contracture syndrome 2', 'Shprintzen-Goldberg craniosynostosis syndrome', 'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12', 'Immunodeficiency 88', 'Myopathy, centronuclear, 4', 'Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy', 'Cardiomyopathy, dilated, 2E', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14', 'Cardiofaciocutaneous syndrome 4', 'Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy', 'Mental retardation, autosomal dominant 57', 'Meester-Loeys syndrome', 'Chondrodysplasia calcificans metaphysealis', 'Insulinomatosis and diabetes mellitus', 'Brachyolmia type 1, Toledo type', 'Ebstein anomaly', 'Pancreatic cancer, susceptibility to, 5', 'Amyotrophic lateral sclerosis 8', 'Occipital horn syndrome', 'Shprintzen omphalocele syndrome', 'Renal failure, progressive, with hypertension', 'Pendred syndrome', 'Microcephaly 17, primary, autosomal recessive', 'Myopathy, epilepsy, and progressive cerebral atrophy', 'Ciliary dyskinesia, primary, 25', 'Myasthenic syndrome, congenital, 4A, slow-channel', 'Multiple congenital anomalies-hypotonia-seizures syndrome 3', 'Multiple pterygium syndrome, Lethal type', 'Inflammatory bowel disease 29', 'Lenz-Majewski hyperostotic dwarfism', 'Thyroid hormone resistance, generalized, autosomal dominant', 'Zttk syndrome', 'HYDROXYPROLINEMIA', 'Aminoacylase 1 deficiency', 'Atrial fibrillation, familial, 14', 'Myofibrillar myopathy 11', 'Legg-Calve-Perthes disease', 'Patent ductus arteriosus and bicuspid aortic valve with hand anomalies', 'Muscular dystrophy, limb-girdle, autosomal recessive 26', 'Slowed nerve conduction velocity, autosomal dominant', 'Intellectual developmental disorder with poor growth and with or without seizures or ataxia', 'Neurodevelopmental, jaw, eye, and digital syndrome', 'Enhanced S-cone syndrome', 'Lissencephaly 2', 'Cardiomyopathy, dilated, 1HH', 'Hemosiderosis, pulmonary, with deficiency of gamma-A globulin', 'Tyrosine transaminase deficiency', 'Oliver-Mcfarlane syndrome', 'Combined oxidative phosphorylation deficiency 50', 'Factor VIII and factor IX, combined deficiency of', 'Arrhythmogenic right ventricular dysplasia, familial, 3', 'Baraitser-Winter syndrome 1', 'Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features', 'Brain small vessel disease 1 with or without ocular anomalies', 'Vacterl association with hydrocephalus', 'Muscular dystrophy, limb-girdle, type 1E', 'Cutis laxa, autosomal dominant 1', 'Myopathy, congenital with structured cores and Z-line abnormalities', 'Ichthyosis vulgaris', 'LACTIC ACIDURIA DUE TO D-LACTIC ACID', 'Internal carotid artery, spontaneous dissection of', 'Prolactin deficiency with obesity and enlarged testes', 'Cardiomyopathy, dilated, 1Z', 'Neuropathy, hereditary sensory, X-linked', 'Immunodeficiency 61', 'Snijders Blok-Campeau syndrome', 'Epileptic encephalopathy, early infantile, 30', 'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1', 'Succinic semialdehyde dehydrogenase deficiency', 'Lesch-Nyhan phenotype with normal hgprt', 'Cardiomyopathy, familial hypertrophic, 2', 'Hyperphosphatasia with impaired intellectual development syndrome 4', 'Spondylocostal dysostosis 4, autosomal recessive', 'Long QT syndrome 14', 'Cardiomyopathy, dilated, 1KK', 'Muscular dystrophy, limb-girdle, autosomal recessive 10', 'Immunodeficiency-Centromeric instability-facial anomalies syndrome2', 'Telangiectasia, hereditary benign', 'Pontocerebellar hypoplasia, type 4', 'Immunodeficiency, common variable, 4', 'Angiokeratoma corporis diffusum with arteriovenous fistulas', 'Hypokalemic periodic paralysis, type 2', 'Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome', 'Insulin-Like growth factor I, resistance to', 'Cerebrooculofacioskeletal syndrome 3', 'Cardiomyopathy, dilated, 2D', 'Myopathy due to myoadenylate deaminase deficiency', 'Glycosylphosphatidylinositol biosynthesis defect 17', 'Lymphatic malformation 3', 'Bardet-Biedl syndrome 3', 'GLUCOGLYCINURIA', 'Multiple pterygium syndrome, X-linked', '2-Methylbutyryl-Coa dehydrogenase deficiency', 'Muscular dystrophy, congenital, 1B', 'Developmental delay, impaired speech, and behavioral abnormalities', 'Cornelia de Lange syndrome 1', 'Noonan syndrome 5', 'Neurodevelopmental disorder with microcephaly and spastic paraplegia', 'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8', 'Parkinson disease 22, autosomal dominant', 'Immunodeficiency 83, susceptibility to viral infections', 'Sneddon syndrome', 'T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant', 'Heart, malformation of', 'Urofacial syndrome', 'Martsolf syndrome 2', 'Dermatitis, atopic', 'Ventricular extrasystoles with syncope, perodactyly, and Robin sequence', 'Zinc deficiency, transient neonatal', 'Immune deficiency, familial variable', 'Camptodactyly 1', '3-M syndrome 1', 'Frontotemporal dementia and/or amyotrophic lateral sclerosis 5', 'Peho-Like syndrome', 'Naegeli-Franceschetti-Jadassohn syndrome', 'Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities', 'Immunodeficiency 38 with basal ganglia calcification', 'Phosphoserine phosphatase deficiency', 'Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12', 'Microcephaly, primary autosomal recessive, 1', 'Myopathy, distal, with rimmed vacuoles', 'Pulmonary hypertension, primary, autosomal recessive', 'Spondylocostal dysostosis 3, autosomal recessive', 'Lysine malabsorption syndrome', 'Arthrogryposis, distal, type 2A', 'Cardiomyopathy, familial hypertrophic, 13', 'Immunodeficiency 51', 'Muscular dystrophy, congenital, due to integrin alpha-7 deficiency', 'Li-Fraumeni syndrome', 'Hypomagnesemia 4, renal', 'Bardet-Biedl syndrome 9', 'Cole disease', 'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15', 'Cone-rod dystrophy 12', 'Waardenburg syndrome, type 4B', 'Oculorenocerebellar syndrome', 'Microtia, hearing impairment, and cleft palate', 'Carpal tunnel syndrome', 'Hennekam lymphangiectasia-lymphedema syndrome', 'Myopathy, tubular aggregate, 2', 'Atrial septal defect 6', 'Van Maldergem syndrome 1', 'Bethlem myopathy 2', 'Atrial septal defect with atrioventricular conduction defects', 'Ichthyosis, mental retardation, dwarfism, and renal impairment', 'Hernia, double inguinal', 'Myopathy, distal, 6, adult onset', 'Fountain syndrome', 'Sedoheptulokinase deficiency', 'Atrial fibrillation, familial, 4', 'Enchondromatosis, multiple', 'Stiff skin syndrome', 'Aortic arch anomaly with peculiar facies and mental retardation', 'Glomerulosclerosis, focal segmental, 5', 'Sinus node disease and myopia', 'Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi', 'Neurodegeneration, infantile-onset, biotin-responsive', 'D-2-Hydroxyglutaric aciduria 1', 'Cataract 11, multiple types', 'Emanuel syndrome', 'Patent ductus arteriosus 2', 'Muscular dystrophy, limb-girdle, type 2Y', 'Charcot-Marie-Tooth disease, dominant intermediate A', 'Achalasia, familial esophageal', 'Frank-ter Haar syndrome', 'Nemaline myopathy 11, autosomal recessive', 'Facioscapulohumeral muscular dystrophy 1', 'Microphthalmia, syndromic 12', 'Heterotaxy, visceral, 10, autosomal, with male infertility', 'Exostoses, multiple, type I', 'Miyoshi muscular dystrophy 1', 'Diastrophic dysplasia', 'Chromosome 15q26-qter deletion syndrome', 'Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies', 'Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2', 'Hypomagnesemia 1, intestinal', 'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9', 'Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly', 'Blood group, cromer system', 'Behcet syndrome', 'Osseous heteroplasia, progressive', 'Xia-Gibbs syndrome', 'Multiple congenital anomalies-hypotonia-seizures syndrome 2', 'Neuronal intranuclear inclusion disease', 'Cardiomyopathy, familial hypertrophic, 15', 'Xeroderma pigmentosum, complementation group F', 'Obesity-Hypoventilation syndrome', 'Recombinant chromosome 8 syndrome', 'Al-Gazali-Bakalinova syndrome', 'Hyperuricemic nephropathy, familial juvenile, 3', 'Glomerulocystic kidney disease with hyperuricemia and isosthenuria', 'Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity', 'Pseudohermaphroditism, male, with gynecomastia', 'Hydrops fetalis, nonimmune, with gracile bones and dysmorphic features', 'Leiomyoma of vulva and esophagus', 'Ververi-Brady syndrome', 'Gillespie syndrome', 'Arrhythmogenic right ventricular dysplasia, familial, 1', 'Radial aplasia, X-linked', 'Anorectal anomalies', 'Necrotizing encephalomyelopathy, subacute, of leigh, adult', 'Meier-Gorlin syndrome 1', 'Microcephaly with cervical spine fusion anomalies', 'Sacral defect with anterior meningocele', 'Hypoglossia with situs inversus', 'UV-sensitive syndrome 3', 'Creatine phosphokinase, elevated serum', 'Hypomagnesemia 2, renal', 'Polyposis of gastric fundus without polyposis coli', 'Congenital myopathy 2C, severe infantile, autosomal dominant', 'Paragangliomas 4', 'Satoyoshi syndrome', 'Immunodeficiency 101 (varicella zoster virus-specific)', 'Oculopharyngodistal myopathy 4', 'Mitochondrial complex IV deficiency, nuclear type 14', 'Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial', 'Schimmelpenning-Feuerstein-Mims syndrome', 'Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis', 'Muscular dystrophy, congenital, with or without seizures', 'Retinal arteries, tortuosity of', 'Pseudohyperkalemia, familial, 2, due to red cell leak', 'Immunodeficiency 13', 'Aortic arch interruption, facial palsy, and retinal coloboma', 'Spondyloepiphyseal dysplasia tarda, autosomal recessive', 'Miyoshi muscular dystrophy 3', 'Frontoocular syndrome', 'Deafness, neural, with atypical atopic dermatitis', 'Feingold syndrome 2', 'Spinal muscular atrophy with congenital bone fractures 2', 'Fibromuscular dysplasia, multifocal', 'Mismatch repair cancer syndrome 3', 'Blepharochalasis, superior', 'Brachyolmia type 2', 'Atrial fibrillation, familial, 7', 'Neurodevelopmental disorder with microcephaly, ataxia, and seizures', 'Saccharopinuria', 'Microcephaly 11, primary, autosomal recessive', 'Mismatch repair cancer syndrome 4', 'Congenital disorder of glycosylation, type IIc', 'Bundle branch block, familial isolated complete right', 'Cardiomyopathy, dilated, 1FF', 'Short syndrome', 'Dyskinesia, limb and orofacial, infantile-onset', 'Osteogenesis imperfecta, type IX', 'Atrial tachyarrhythmia with short pr interval', 'Pulmonary atresia with ventricular septal defect', 'Beta-aminoisobutyric acid, urinary excretion of', 'CYSTATHIONINURIA', 'Bardet-Biedl syndrome 14', 'Cerebral cavernous malformations 3', 'Choroid plexus calcification and mental retardation', 'Intellectual developmental disorder, autosomal recessive 68', 'Muscular dystrophy, limb-girdle, type 1H', 'Myopathy, myosin storage, autosomal recessive', 'Bardet-Biedl syndrome 11', 'Epidermodysplasia verruciformis, susceptibility to, 4', 'Coracoclavicular joint, anomalous', 'Ige responsiveness, atopic', 'Arrhythmogenic right ventricular dysplasia, familial, 4', 'Ventricular septal defect 3', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5', 'Aicardi-Goutieres syndrome 2', 'Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly', 'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7', 'Brain small vessel disease 2', 'Spondylocostal dysostosis with anal atresia and urogenital anomalies', 'Muscular dystrophy, limb-girdle, type 2Z', 'Charcot-Marie-Tooth disease, axonal, type 2II', 'Leukodystrophy, hypomyelinating, 26, with chondrodysplasia', 'Diaphragmatic defects, limb deficiencies, and ossification defects of skull', 'Prune belly syndrome', 'Phosphohydroxylysinuria', 'Ullrich congenital muscular dystrophy 2', 'Yoon-Bellen neurodevelopmental syndrome', 'Charcot-Marie-Tooth disease, dominant intermediate E', 'Immunodeficiency 70', 'Oculopharyngodistal myopathy 2', 'Kanzaki disease', 'Ataxia-Oculomotor apraxia 3', 'Bulbar palsy, progressive, of childhood', 'Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia', 'Proteus syndrome, somatic', 'Pierpont syndrome', 'Atrial septal defect 8', 'Microcephaly, short stature, and impaired glucose metabolism 2', 'Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type', 'Vesicoureteral reflux 1', 'Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease', 'Joubert syndrome 21', 'Spinal muscular atrophy with congenital bone fractures 1', 'Pulmonary atresia with intact ventricular septum', 'Morquio syndrome C', 'Dystonia 32', 'Dandy-Walker malformation with postaxial polydactyly', 'Cerebellar ataxia, benign, with thermoanalgesia', 'Nuchal bleb, familial', 'Nijmegen breakage syndrome-like disorder', 'Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia', 'Nivelon-Nivelon-Mabille syndrome', 'Neurofibromatosis-Noonan syndrome', 'Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis', 'Parkinsonism-Dystonia, infantile, 1', 'Spastic paraplegia 70, autosomal recessive', 'Frontotemporal dementia and/or amyotrophic lateral sclerosis 2', 'Kilquist syndrome', 'Mandibuloacral dysplasia with type B lipodystrophy', 'Nabais Sa-de vries syndrome, type 2', 'Atrial fibrillation, familial, 11', 'Pulmonary venoocclusive disease 1', 'Total anomalous pulmonary venous return 1', 'Leukodystrophy, adult-onset, autosomal dominant', 'Chromosome 13q33-q34 deletion syndrome', 'Seckel syndrome 9', 'Leber congenital amaurosis 4', 'Hyperphenylalaninemia, BH4-deficient, D', 'Webb-Dattani syndrome', 'Combined oxidative phosphorylation deficiency 49', 'Pituitary dwarfism with large sella turcica', 'Chromosome 20q11-q12 deletion syndrome', 'Myopathy, distal, 4', 'Neurodevelopmental disorder, X-linked, with craniofacial abnormalities', 'Charge syndrome', 'Joubert syndrome 37', 'Mosaic variegated aneuploidy syndrome 2', 'Cervical vertebral bridge', 'Finger locking, recurrent, with intrauterine growth retardation andproportionate short stature', 'Metatropic dysplasia', 'Alzheimer disease', 'Macular dystrophy, corneal, 1', 'Ataxia, intention tremor, and hypotonia syndrome, childhood-onset', 'Charcot-Marie-Tooth disease, type 2J', 'Hyperkalemic periodic paralysis', 'Arteries, anomalies of', 'Hemangiopericytoma, malignant', 'Neurodegeneration with brain iron accumulation 7', 'Craniometaphyseal dysplasia, autosomal dominant', 'Meacham syndrome', 'Galloway-Mowat syndrome 7', 'Hypothyroidism, congenital, nongoitrous, 4', 'Thumb deformity', 'Exostoses, multiple, type II', 'Transposition of the great arteries, dextro-looped 1', 'Smith-Magenis syndrome', 'Intracranial hypertension, idiopathic', 'Chromosome 19q13.11 deletion syndrome, distal', 'Facial palsy, congenital, with ptosis and velopharyngeal dysfunction', 'Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome', 'Hypertrophic neuropathy and cataract', 'Cataract 17, multiple types', 'Epidermolytic hyperkeratosis 2', 'Immunodeficiency 27B', 'Kabuki syndrome 2', 'Epidermolysis bullosa simplex, Ogna type', 'Spondylometaphyseal dysplasia, type A4', 'Bardet-Biedl syndrome 22', 'Spondylosis, cervical', 'Sorbitol dehydrogenase deficiency with peripheral neuropathy', 'GLUT1 deficiency syndrome 1, infantile onset, severe', 'Hyperprolinemia, type II', 'Charcot-Marie-Tooth disease, axonal, type 2B1', 'Craniolenticulosutural dysplasia', 'Leukodystrophy, hypomyelinating, 20', 'Immunodeficiency, common variable, 3', 'Cardiomyopathy, familial hypertrophic, 3', 'Immunodeficiency 20', 'Mental retardation, autosomal recessive 30', 'Nemaline myopathy 6', 'Inflammatory bowel disease 3', 'Inflammatory bowel disease 21', 'Gombo syndrome', 'Carcinoid tumors, intestinal', 'Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1', 'Trichothiodystrophy 1, photosensitive', 'FG syndrome 3', 'Cayler cardiofacial syndrome', 'Hyperuricemia, infantile, with abnormal behavior and normal hypoxanthineguanine phosphoribosyltransferase', 'Atrioventricular septal defect, susceptibility to, 2', 'Intellectual developmental disorder with short stature and variable skeletal anomalies', 'Myoglobinuria, recurrent', 'Meckel diverticulum', 'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3', 'Nephronophthisis-Like nephropathy 1', 'Cleidocranial dysplasia, recessive form', 'Spondyloepiphyseal dysplasia, Nishimura type', 'Heart-hand syndrome, Spanish type', 'Trichothiodystrophy 6, nonphotosensitive', 'Lethal congenital contracture syndrome 10', 'Diabetes mellitus, insulin-dependent-1', 'Pontine tegmental cap dysplasia', 'Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3', 'Porencephaly, cerebellar hypoplasia, and internal malformations', 'Chromosome 16q22 deletion syndrome', 'Mitchell syndrome', 'Mental retardation, autosomal dominant 35', 'Buerger disease', 'Neuromyotonia and axonal neuropathy, autosomal recessive', 'Noonan syndrome 14', 'Aminopterin syndrome sine aminopterin', 'Myoclonus, intractable, neonatal', 'Nemaline myopathy 5B, autosomal recessive, childhood-onset', 'Ichthyosis, congenital, autosomal recessive 3', 'Dyslexia, susceptibility to, 8', 'Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities', 'Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3', '3-M syndrome 2', 'Joubert syndrome 18', 'Cardiomyopathy, familial restrictive, 1', 'Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities', 'SPONDYLOLISTHESIS', 'OMPHALOCELE', 'Omphalocele due to duplication of 1p31.3', 'Aland island eye disease', 'Parathyroid carcinoma', 'Muscular dystrophy, limb-girdle, autosomal dominant 2', 'Microcephaly 27, primary, autosomal dominant', 'Blount disease, adolescent', 'Epileptic encephalopathy, early infantile, 55', 'Charcot-Marie-Tooth disease, dominant intermediate D', 'Glycogen storage disease XV', 'Tetralogy of Fallot and glaucoma', 'Neurodevelopmental disorder with alopecia and brain abnormalities', 'Lacrimal duct defect', 'Sprengel deformity', 'Lung agenesis, congenital heart defects, and thumb anomalies syndrome', 'Cataract, juvenile, with microcornea and glucosuria', 'Hunter-Macdonald syndrome', 'Polyposis, intestinal, with multiple exostoses', 'Rippling muscle disease', 'Hypoglycemia of infancy, leucine-sensitive', 'Rothmund-Thomson syndrome', 'Spinal intradural arachnoid cysts', 'Phosphoglycerate kinase 1 deficiency', 'Myopathy, distal 3', 'Boucher-Neuhauser syndrome', 'Short-Rib thoracic dysplasia 11 with or without polydactyly', 'Desbuquois dysplasia 1', 'Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum', 'Hypercalciuria, absorptive, susceptibility to', 'Developmental and epileptic encephalopathy 58', 'Schwartz-jampel syndrome, type 1', 'Atrioventricular dissociation', 'Cerebrooculofacioskeletal syndrome 2', 'Myopathy, myofibrillar, 6', 'Myopathy, distal, 5', 'Congenital disorder of glycosylation, type IIz', 'Proteinuria, chronic benign', 'Focal segmental glomerulosclerosis 2', 'Gillessen-Kaesbach-Nishimura syndrome', 'Spondyloepimetaphyseal dysplasia with joint laxity, type 3', 'Brain abnormalities, neurodegeneration, and dysosteosclerosis', 'Intellectual developmental disorder with hypotonia and behavioral abnormalities', 'Glycosylphosphatidylinositol biosynthesis defect 15', 'Retinal cone dystrophy 3A', 'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14', 'Kleeblattschaedel syndrome', 'Retinal dystrophy, iris coloboma, and comedogenic acne syndrome', 'Indolylacroyl glycinuria with mental retardation', 'Short stature with nonspecific skeletal abnormalities', 'Oculopharyngodistal myopathy 1', 'Benign chronic pemphigus', 'Urticaria, familial localized heat', 'Annular erythema', 'Urticaria, aquagenic', 'Erythema palmare hereditarium', 'Myasthenic syndrome, congenital, 1A, slow-channel', 'Arrhythmogenic right ventricular dysplasia, familial, 13', 'Epileptic encephalopathy, early infantile, 78', 'IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2', 'Sick sinus syndrome 1', 'Familial cold autoinflammatory syndrome 3', 'Immunodeficiency 35', 'Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy', 'METACHONDROMATOSIS', 'Facial dysmorphism, immunodeficiency, livedo, and short stature', 'Thoracomelic dysplasia', 'Chromosome Xq13 duplication syndrome', 'Cardiomyopathy, dilated, 1Y', 'Ciliary dyskinesia, primary, 43', 'Complement factor B deficiency', 'Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia', 'Paragangliomas 5', 'Spondyloepimetaphyseal dysplasia, Isidor-Toutain type', 'Congenital cataracts, hearing loss, and neurodegeneration', 'Myasthenic syndrome, congenital, 4B, fast-channel', 'Episodic ataxia, type 4', 'Spinal dysplasia, Anhalt type', 'Hydrocephalus, normal pressure, 1', 'Ichthyosis, split hairs, and amino aciduria', 'Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism', 'Scoliosis, idiopathic, susceptibility to, 1', 'Isotretinoin embryopathy-like syndrome', 'Treacher-Collins syndrome 4', 'Tumor predisposition syndrome 2', 'Dystonia 2, torsion, autosomal recessive', 'Huntington disease-like 2', 'Intellectual developmental disorder, autosomal recessive 24', 'Short stature, idiopathic familial', 'Brugada syndrome 7', 'Gurrieri syndrome', 'Spinocerebellar ataxia, autosomal recessive 20', 'Amelia, autosomal recessive', 'Asparagine synthetase deficiency', 'Radial-Renal syndrome', 'Mononeuropathy of the median nerve, mild', 'Intellectual developmental disorder with macrocephaly, seizures, and speech delay', 'URIDINE-CYTIDINEURIA', 'Onychotrichodysplasia and neutropenia', 'Ehlers-Danlos syndrome, periodontal type, 2', 'Cardiomyopathy, familial hypertrophic, 12', 'Immunodeficiency 65, susceptibility to viral infections', 'Bardet-Biedl syndrome 8', 'Anus, imperforate', 'Auriculocondylar syndrome 2', 'Cerebral amyloid angiopathy, itm2b-related, 1', 'Kaya-Barakat-Masson syndrome', 'RAPADILINO syndrome', 'Myasthenic syndrome, congenital, 25, presynaptic', 'Polyhydramnios, megalencephaly, and symptomatic epilepsy', 'Neuroblastoma, susceptibility to, 2', 'Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold', 'Carney complex variant', 'Hyperoxaluria, primary, type III', 'Pyloric atresia', 'Developmental and epileptic encephalopathy 107', 'Anauxetic dysplasia 3', 'Muscular dystrophy, limb-girdle, type 2C', 'Carey-Fineman-Ziter syndrome 2', 'Spinocerebellar ataxia 48', 'Dworschak-Punetha neurodevelopmental syndrome', 'Congenital myopathy 13', 'Ceroid lipofuscinosis, neuronal, 9', 'Respiratory distress syndrome in premature infants', 'Dwarfism with tall vertebrae', 'Osteogenesis imperfecta congenita, microcephaly, and cataracts', 'Spondylocostal dysostosis 6, autosomal recessive', 'Triphalangeal thumbs and dislocation of patella', 'Epileptic encephalopathy, early infantile, 39', 'Opsismodysplasia', 'Carney complex, type 1', 'Vesicoureteral reflux 3', 'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5', 'Cardiomyopathy, dilated, 1R', 'Tumoral calcinosis, hyperphosphatemic, familial, 2', 'Nephronophthisis 15', 'Congenital myopathy 10B, mild variant', 'Charcot-Marie-Tooth disease, axonal, type 2T', 'Au-Kline syndrome', 'Fetal encasement syndrome', 'Chondrodysplasia punctata, autosomal dominantchondrodysplasia punctata due to vitamin K deficiency, included', 'Holoprosencephaly with fetal akinesia/hypokinesia sequence', 'Hemangiomas of small intestine', 'Epileptic encephalopathy, early infantile, 76', 'Cystinosis, adult nonnephropathic', 'Epileptic encephalopathy, infantile or early childhood, 2', 'CARNOSINEMIA', 'Microcephaly 16, primary, autosomal recessive', 'Visceral neuropathy, familial, autosomal recessive', 'Hirschsprung disease with ulnar polydactyly, polysyndactyly of bigtoes, and ventricular septal defect', 'Deafness, congenital, with vitiligo and achalasia', 'Vater associationvacterl association, included', 'Myofibrillar myopathy 10', 'Mental and growth retardation with amblyopia', 'Cowchock syndrome', 'Candidiasis, familial chronic mucocutaneous, autosomal dominant', 'Roussy-Levy hereditary areflexic dystasia', 'Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related', 'Duodenal atresia', 'Loeys-Dietz syndrome 1', 'Iga nephropathy, susceptibility to, 3', 'Spondylometaphyseal dysplasia, corner Fracture type', 'Atrial fibrillation, familial, 2', 'Surfactant metabolism dysfunction, pulmonary, 2', 'Tubulointerstitial kidney disease, autosomal dominant, 1', 'Colorectal cancer, hereditary nonpolyposis, type 5', 'Chondrocalcinosis 1', 'Heart-hand syndrome, Slovenian type', 'Encephalopathy, acute, infection-induced, susceptibility to, 3', 'Stevenson-Carey syndrome', 'Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality', 'Myasthenic syndrome, congenital, 1B, fast-channel', 'Mowat-Wilson syndrome', 'Leopard syndrome 1', 'Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome', 'Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5', 'Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6', 'Atrial fibrillation, familial, 6', 'Hyperphosphatasia with mental retardation syndrome 3', 'Prepapillary vascular loops', 'Venular insufficiency, systemic', 'Spondyloepiphyseal dysplasia, Maroteaux type', 'Chromosome 18q deletion syndrome', 'Cohen-Gibson syndrome', 'Vertebral, cardiac, renal, and limb defects syndrome 1', 'Osteomas of mandible', 'Bardet-Biedl syndrome 18', 'T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY', 'Thoracic dysostosis, isolated', 'Cerebral cavernous malformations 4', 'Immunodeficiency 66', 'Hirschsprung disease, susceptibility to, 5', 'Aganglionosis, total intestinal', 'Spinocerebellar degeneration and corneal dystrophy', 'Diabetes and deafness, maternally inherited', 'Pubic bone dysplasia', 'Carpal displacement', 'Monophalangy of great toe', 'Double nail for fifth toe', 'Pachydermodactyly, familial', 'Toe, misshapen', 'Toe, fifth, number of phalanges in', 'Palmaris longus muscle, absence of', 'Toes, relative length of first and second', 'Myopathy, myofibrillar, 3', 'AURICULOOSTEODYSPLASIA', 'Thumb agenesis, short stature, and immunodeficiency', 'Acromegaloid changes, cutis verticis gyrata, and corneal leukoma', 'MICROCEPHALY-CARDIOMYOPATHY', 'Glaucoma 3, primary congenital, E', 'Exostoses of heel', 'Corneal dystrophy, fuchs endothelial, 3', 'Vertebral, cardiac, renal, and limb defects syndrome 3', 'Corneal dystrophy, fuchs endothelial, 1', 'Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)', 'Immunodeficiency 49', 'Split-Hand/foot malformation 3', 'Long QT syndrome 10', 'Epilepsy, idiopathic generalized, susceptibility to, 18', 'Atrial fibrillation, familial, 15', 'Lumbar stenosis, familial', 'Scheuermann disease', 'Nephronophthisis-like nephropathy 2', 'MEGALENCEPHALY', 'Cardiomyopathy, familial hypertrophic, 7', 'Brachydactyly, type e, with atrial septal defect, type II', 'DERMATOLEUKODYSTROPHY', 'Helix syndrome', 'Agammaglobulinemia 5, autosomal dominant', 'Epilepsy, focal, with speech disorder and with or without mental retardation', 'Knobloch syndrome 2', 'Smith-Mccort dysplasia 1', 'Panhypopituitarism, X-linked', 'Camptomelic syndrome, Long-Limb type', 'Aromatase excess syndrome', 'Hermansky-Pudlak syndrome 8', 'Right ventricular hypoplasia, isolated', 'Pontocerebellar hypoplasia, type 17', 'Frontotemporal dementia and/or amytrophic lateral sclerosis 8', 'Erythema nodosum, familial', 'Tibial torsion, bilateral medial', 'Platyspondylic lethal skeletal dysplasia, Torrance type', 'Diaphragmatic hernia 2', 'Hypersulfaturia', 'Myasthenic syndrome, congenital, 5', 'Intellectual developmental disorder, X-linked, syndromic, Pilorge type', 'Costocoracoid ligament, congenitally short', 'Immunodeficiency 15A', 'Mitochondrial complex I deficiency, nuclear type 10', 'Intellectual developmental disorder, autosomal dominant 21', 'Charcot-Marie-Tooth disease, axonal, type 2A1', 'Triphalangeal thumb, nonopposable', '3-@methylglutaconic aciduria, type IV', 'Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature', 'Spastic paraplegia 79A, autosomal dominant', 'Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis', 'Tendons, extensor, of fingers, anomalous insertion of', 'Vertical talus, congenital', 'Neurodevelopmental disorder with hypotonia, seizures, and absent language', 'Intellectual developmental disorder with autistic features and language delay, with or without seizures', 'Sessile serrated polyposis cancer syndrome', 'Polyposis, intestinal, scattered and discrete', 'Glycinuria with or without oxalate urolithiasis', 'Neurodevelopmental disorder with seizures and speech and walking impairment', 'Melanoma-Pancreatic cancer syndrome', 'Spondyloepiphyseal dysplasia tarda with mental retardation', 'Spondyloepiphyseal dysplasia, Kimberley type', 'Delpire-Mcneill syndrome', 'Alzheimer disease 4', 'Spastic paraplegia 29, autosomal dominant', 'Spondylometaphyseal dysplasia, Sedaghatian type', 'Cataracts, spastic paraparesis, and speech delay', 'Brachmann-De lange-like facial changes with microcephaly, metatarsusadductus, and developmental delay', 'Charcot-Marie-Tooth disease, axonal, type 2I', 'Syndesmodysplasic dwarfism', 'Immunodeficiency, common variable, 10', 'Spondylocostal dysostosis 2, autosomal recessive', 'Muscular dystrophy, congenital, megaconial type', 'Leukodystrophy, hypomyelinating, 17', 'Chondrocalcinosis 2', 'Hydroxylysinuria', 'Paroxysmal nonkinesigenic dyskinesia 1', 'Second metatarsal-metacarpal syndrome', 'Pontocerebellar hypoplasia type 1A', 'Anauxetic dysplasia 1', 'Ventricular tachycardia, familial', 'Myasthenic syndrome, congenital, 3B, fast-channel', 'Epiphyseal dysplasia, multiple, 7', 'Osteoarthritis of distal interphalangeal joints', 'UV-sensitive syndrome 1', 'Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome', 'Pulmonary hypertension, primary, 2', 'Dwarfism, proportionate, with hip dislocation', 'Aphalangia, partial, with syndactyly and duplication of metatarsaliv', 'Ceroid lipofuscinosis, neuronal, 1', 'Sacral agenesis with vertebral anomalies', 'Retinitis pigmentosa 4', 'Pilonidal sinus', 'Thoracopelvic dysostosis', 'Developmental and epileptic encephalopathy 16', 'Lesch-Nyhan syndrome', 'Muscular dystrophy, limb-girdle, type 2B', 'Hyperinsulinemic hypoglycemia, familial, 5', 'Developmental dysplasia of the hip 2', 'Trigger thumb', 'Lynch syndrome I', 'Colorectal cancer, hereditary nonpolyposis, type 2', 'Vertebral hypoplasia with lumbar kyphosis', 'Atrial septal defect 5', 'Atrial septal defect 3', 'Beck-Fahrner syndrome', 'Peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and', 'Myotonia, potassium-aggravated', 'Atrial fibrillation, familial, 12', 'Loeys-Dietz syndrome 4', 'Epiphyseal dysplasia, multiple, 5', 'Neurodevelopmental disorder with eye movement abnormalities and ataxia', 'Craniosynostosis 5, susceptibility to', 'Dubowitz syndrome', 'Orofaciodigital syndrome VI', 'Cone-rod synaptic disorder syndrome, congenital nonprogressive', 'Osteogenesis imperfecta, type XV', 'Toes, space between first and second', 'Achard syndrome', 'Acrodysostosis 1, with or without hormone resistance', 'Auralcephalosyndactyly', 'Bohring-Opitz syndrome', 'Panencephalitis, subacute sclerosing', 'Intellectual developmental disorder, X-linked 111', 'Cardiomyopathy, familial hypertrophic, 25', 'Mismatch repair cancer syndrome 1', 'Left ventricular noncompaction 2', 'Bardet-Biedl syndrome 5', 'Laryngeal abductor paralysis', 'Epilepsy, progressive myoclonic, 6', 'Myasthenic syndrome, congenital, 24, presynaptic', 'Muscular dystrophy, limb-girdle, type 2L', 'Patella, chondromalacia of', 'Microcephaly with chemotactic defect and transient hypogammaglobulinemia', 'Neurodevelopmental disorder with hypotonia, neuropathy, and deafness', 'Muscular dystrophy, limb-girdle, autosomal dominant 4', 'Sotos syndrome', 'Neuronopathy, distal hereditary motor, type X', 'Polydactyly, preaxial III', 'Tetraamelia, autosomal recessive', 'Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated', 'Achalasia-Microcephaly syndrome', 'Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal', 'Cardiomyopathy associated with myopathy and sudden death', 'Muscular dystrophy, congenital, with cataracts and intellectual disability', 'Odontoid hypoplasia', 'Osteogenesis imperfecta, type VI', 'Metatarsus varus, type I', 'Cardiomyopathy, dilated, 1W', 'Migraine, familial hemiplegic, 2', 'Blepharospasm, benign essential, susceptibility to', 'Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies', 'Vertebral, cardiac, renal, and limb defects syndrome 2', 'DIAMINOPENTANURIA', 'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4', 'Sella turcica, bridged', 'Hypoplastic femurs and pelvis', 'Muscular dystrophy, limb-girdle, autosomal recessive 23', 'Cerebellar ataxia, brain abnormalities, and cardiac conduction defects', 'Liberfarb syndrome', 'Colorectal cancer, hereditary nonpolyposis, type 7', 'Colorectal cancer, hereditary nonpolyposis, type 6', 'Roberts-SC phocomelia syndrome', 'Cleidorhizomelic syndrome', 'Charcot-Marie-Tooth disease, axonal, type 2HH', 'Lipoid congenital adrenal hyperplasia', 'Dystonia, DOPA-responsive, with or without hyperphenylalaninemia', 'Cryofibrinogenemia, familial primary', 'Hematuria, benign familial', 'Orthostatic intolerance', 'Blepharochalasis and double lip', 'Exostoses, multiple, type III', 'Asthma, susceptibility to', 'Growth hormone deficiency, isolated, type IB', 'Tibial hemimelia', 'Intellectual developmental disorder, autosomal recessive 9/26', 'Hypogonadotropic hypogonadism 27 without anosmia', 'Mesomelic dwarfism of hypoplastic tibia and Radius type', 'Alazami syndrome', 'Oculopharyngeal myopathy with leukoencephalopathy 1', 'Periventricular nodular heterotopia 7', 'Myxoma, intracardiac', 'Intellectual developmental disorder, autosomal dominant 46', 'Dystonia with cerebellar atrophy', 'Thiemann disease', 'Growth hormone insensitivity, partial', 'Santos syndrome', 'Encephalopathy, neonatal severe, due to mecp2 mutations', 'Brachyolmia type 3', 'Muscular dystrophy, limb-girdle, type 2G', 'Parastremmatic dwarfism', 'Cerebral creatine deficiency syndrome 1', 'Medullary cystic kidney disease 2', 'Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures', 'Thoracoabdominal syndrome', 'Immunoglobulin D level in plasma, low', 'Radiation sensitivity of natural killer activity', 'Leprosy, susceptibility to', 'Echo virus 11 sensitivity', 'Immune suppression', 'Allergic bronchopulmonary aspergillosis', 'Galloway-Mowat syndrome 4', 'Pontocerebellar hypoplasia, type 2A', 'Masp2 deficiency', 'Brody myopathy', 'Hypomagnesemia 6, renal', 'Bardet-Biedl syndrome 10', 'Muscular dystrophy, congenital, Davignon-Chauveau type', 'Bardet-Biedl syndrome 7', 'Tryptophanuria with dwarfism', 'Metachromatic leukodystrophy due to saposin B deficiency', 'Macrocephaly, benign familial', 'Spastic ataxia 5, autosomal recessive', 'Intellectual developmental disorder with persistence of fetal hemoglobin', 'Mental retardation, keratoconus, febrile seizures, and sinoatrialblock', 'Global developmental delay, progressive ataxia, and elevated glutamine', 'Waardenburg-Shah syndrome', 'Joubert syndrome 39', 'Salivary gland adenoma, pleomorphic', 'Palmoplantar keratoderma, epidermolytic', 'Acropectoral syndrome', 'Nephrotic syndrome, type 16', 'Stocco dos santos X-linked mental retardation syndrome', 'Coxa vara', 'Myopathy, mitochondrial, and ataxia', 'Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity', 'Anal canal carcinomacloacogenic carcinoma, included', 'Frontometaphyseal dysplasia 2', 'Schwannomatosis 2', 'Spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-sprangertype', 'Dermodistortive urticaria', 'Thyroid hormonogenesis, genetic defect in, 4', 'Leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis', 'Bone pain, periodic', 'Xanthinuria, type II', 'Meier-Gorlin syndrome 7', 'Abnormal hair, joint laxity, and developmental delay', 'Atrial septal defect 9', 'Multiple endocrine neoplasia, type IIA', 'Short-rib thoracic dysplasia 21 without polydactyly', 'Neurodevelopmental disorder with spasticity and poor growth', 'Hemangioma, capillary infantile', 'Limb-girdle muscular dystrophy, type 1G', 'Episodic ataxia, type 9', 'Cataract, congenital, with mental impairment and dentate gyrus atrophy', 'Short-Rib thoracic dysplasia 18 with polydactyly', 'Peeling skin syndrome 1', 'Spinocerebellar atrophy with pupillary paralysis', 'Leg, absence deformity of, with congenital cataract', 'Pigmentary disorder, reticulate, with systemic manifestations, X-linked', 'Myhre syndrome', 'Slipped femoral capital epiphyses', 'Hypotaurinemic retinal degeneration and cardiomyopathy', 'Cornelia de Lange syndrome 3', 'Amyotrophic dystonic paraplegia', 'Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome', 'Neuropathy, inflammatory demyelinating', 'Dementia, familial danish', 'Spinal muscular atrophy with mental retardation', 'Angiomatosis, diffuse corticomeningeal, of divry and van bogaert', 'Spondyloepiphyseal dysplasia tarda, autosomal dominant', 'Digital clubbing, isolated congenital', 'Alzheimer disease 5', 'Thymoma, familial', 'Alkaptonuria', 'Mirror movements 3', 'TRICHOTILLOMANIA', 'GALACTORRHEA', 'Cranioectodermal dysplasia 4', 'Intellectual developmental disorder, autosomal dominant 54', 'Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology', 'Amyloidosis, primary localized cutaneous, 1', 'Urofacial syndrome 2', 'Nipples, supernumerary', 'Left ventricular noncompaction 7', 'Complement component 4, partial deficiency of', 'ACROOSTEOLYSIS', 'Myasthenic syndrome, congenital, 20, presynaptic', 'Pronation-Supination of the forearm, impairment of', 'Ciliary dyskinesia, primary, 1', 'Cervical rib', 'Charcot-Marie-Tooth disease, axonal, type 2CC', 'IMINOGLYCINURIA', 'Developmental and epileptic encephalopathy 27', 'Giant axonal neuropathy, autosomal dominant', 'Oculopharyngodistal myopathy 3', 'Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2', 'Cardiomyopathy, familial hypertrophic, 20', 'Interstitial nephritis, karyomegalic', 'Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10', 'Aprosencephaly syndrome', 'Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive', 'Osteofibrous dysplasia, susceptibility to', 'Epiphyseal dysplasia, multiple, with miniepiphyses', 'Cardiomyopathy, familial hypertrophic, 9', 'Cardiomyopathy, dilated, 1H', 'Cardiomyopathy, dilated, 1Q', 'Ataxia-telangiectasia-like disorder 2', 'Seckel syndrome 6', 'Cardiomyopathy, familial hypertrophic, 18', 'Retinitis pigmentosa 1', 'Cutis marmorata telangiectatica congenita', 'Kallmann syndrome with spastic paraplegia', 'Hirschsprung disease, susceptibility to, 2', 'Hirschsprung disease, susceptibility to, 4', 'Mental retardation, x-linked, syndromic, Turner type', 'Spastic paraplegia 25, autosomal recessive', 'Corpus callosum, agenesis of', 'Short stature, brachydactyly, intellectual developmental disability, and seizures', 'Knuckle pads', 'Rahman syndrome', 'Hypomandibular faciocranial dysostosis', 'Capillary malformation-arteriovenous malformation 2', 'Spondyloepimetaphyseal dysplasia, X-linked', 'Chondrodysplasia punctata, Tibia-Metacarpal type', 'Immunodeficiency 45', 'Canavan disease', 'Hirschsprung disease with hypoplastic nails and dysmorphic facialfeatures', 'Acrodysostosis 2 with or without hormone resistance', 'Melorheostosis, isolated', 'Cd8 deficiency, familial', 'Pterygium of conjunctiva and cornea', 'Congenital disorder of glycosylation, type Icc', 'Neurodegeneration with brain iron accumulation 3', 'Hyperthyroidism, familial gestational', 'Myotonia with skeletal abnormalities and mental retardation', 'Cutis laxa, neonatal, with marfanoid phenotype', 'Polydactyly, postaxial, type A8', 'Varicella, severe recurrent', 'Coronavirus 229E susceptibility', 'GENOCHONDROMATOSIS', 'Spondylospinal thoracic dysostosis', 'Hypothyroidism, congenital, nongoitrous, 7', 'Ceroid lipofuscinosis, neuronal, 6', 'Metaphyseal dysplasia without hypotrichosis', 'Familial adenomatous polyposis, 2', 'Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities', 'Neurodevelopmental disorder with hypotonia, microcephaly, and seizures', 'Vitamin A metabolic defect', 'Isolated growth hormone deficiency, type II', 'Peripheral dysostosis', 'Myasthenic syndrome, congenital, 19', 'Hallux varus and preaxial polysyndactyly', 'Mucocutaneous ulceration, chronic', 'Charcot-Marie-Tooth disease, type 4C', 'Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities', 'ECTRODACTYLY-POLYDACTYLY', 'Paragangliomas 7', 'Chromosome 3pter-p25 deletion syndrome', 'Cervical vertebral dysplasia', 'Digitotalar dysmorphism', 'Tetralogy of Fallot', 'Intellectual developmental disorder, autosomal dominant 26', 'RHINY', 'Osteoma of middle ear', 'Nemaline myopathy 8', 'Parietal foramina 3', 'Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures', 'Encephalomalacia, multilocular', 'Split-Hand/foot malformation 2', 'Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7', 'Charcot-Marie-Tooth disease, axonal, type 2Y', 'Thauvin-Robinet-Faivre syndrome', 'Myasthenic syndrome, congenital, 21, presynaptic', 'Lissencephaly 1', 'Pituitary hormone deficiency, combined, 2', 'Weismann-Netter syndrome', 'Chilblain lupus 1', 'Keppen-Lubinsky syndrome', 'Episodic ataxia, type 1', 'Epiphyseal dysplasia, multiple, 1', 'Eosinophilic fasciitis', 'Hypokalemic periodic paralysis, type 1', 'Pontocerebellar hypoplasia, type 1B', 'Spinocerebellar ataxia 25', 'Ehlers-danlos syndrome, Hypermobility type', 'Cataract 9, multiple types', 'Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis', 'Prenatal bowing', 'Maleylacetoacetate isomerase deficiency', 'Bardet-Biedl syndrome 15', 'Intellectual developmental disorder, autosomal recessive 72', 'Polydactyly, postaxial, type A5', 'Naxos disease', 'Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting', 'Ankylosing vertebral hyperostosis with tylosisdiffuse idiopathic skeletal hyperostosis, included', 'Tremor, nystagmus, and duodenal ulcer', 'Autoimmune disease', 'Craniosynostosis 7', 'Epileptic encephalopathy, early infantile, 5', 'Multiple exostoses with spastic tetraparesis', 'Patella, familial recurrent dislocation of', 'Mitochondrial complex II deficiency, nuclear type 2', 'Brachyolmia 4 with mild epiphyseal and metaphyseal changes', 'Congenital myopathy 22A, classic', 'MYOSITIS', 'Peripheral neuropathy, myopathy, hoarseness, and hearing loss', 'Meckel syndrome, type 8', 'Spinal muscular atrophy, Jokela type', 'Genitopalatocardiac syndrome', 'Van maldergem syndrome 2', 'Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2', 'Ventricular septal defect 2', 'Greig cephalopolysyndactyly syndrome', 'Immunodeficiency 28', 'Charcot-Marie-Tooth disease, type 4J', 'Fascial dystrophy, congenital', 'Peroneal nerve, accessory deep', 'Jumping frenchman of maine', 'Cerebral angiopathy, dysphoric', 'DIASTEMATOMYELIA', 'Discrimination, two-point, reduction in', 'Modifier, X-linked, for neurofunctional defects', 'Meralgia paraesthetica, familial', 'Hypothyroidism, congenital, nongoitrous, 5', 'Immunodeficiency-centromeric instability-facial anomalies syndrome 4', 'Symphalangism of toes', 'Syndactyly, type III', 'Split-Hand/foot malformation 4', 'Charcot-Marie-Tooth disease, type 1B', 'Syndactyly, type IV', 'Ventriculomegaly with defects of the radius and kidney', 'Polydactyly, postaxial, type A2', 'Cleft palate, cardiac defects, and mental retardation', 'Microcephaly 18, primary, autosomal dominant', 'Cardiomyopathy, dilated, 1cc', 'Epilepsy, nocturnal frontal lobe, 3', 'Thumb, distal hyperextensibility of', 'Complement component 8 deficiency, type I', 'Ceroid lipofuscinosis, neuronal, 5', 'Split-Hand/foot malformation 1 with sensorineural hearing loss', 'Holoprosencephaly, semilobar, with craniosynostosis', 'Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2', 'Amelogenesis imperfecta, type IB', 'Tarsal fusion', 'Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant', 'Tremor, hereditary essential, and idiopathic normal pressure hydrocephalus', 'Short-Rib thoracic dysplasia 20 with polydactyly', 'Skraban-Deardorff syndrome', 'Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1', 'Angioma, tufted', 'Tessadori-van Haaften neurodevelopmental syndrome 4', 'Chromosome 2q35 duplication syndrome', 'Mitochondrial myopathy with diabetes', 'Encephalopathy, progressive, early-onset, with brain atrophy and spasticity', 'Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum', 'Episodic muscle weakness, X-linked', 'Keratolytic winter erythema', 'Peeling skin syndrome, Acral type', 'Erythema of acral regions', 'Cardiomyopathy, dilated, 1AA, with or without LVNC', 'Microcephalic osteodysplastic primordial dwarfism, type II', 'Omphalocele-Cleft palate syndrome, lethal', 'Fontaine progeroid syndrome', 'Spinal muscular atrophy with microcephaly and mental subnormality', 'Intellectual developmental disorder, autosomal recessive 79', 'Joubert syndrome 32', 'Treacher collins syndrome 2', 'Adducted thumbs syndrome', 'Developmental and epileptic encephalopathy 47', 'Arthrogryposis multiplex congenita, Neurogenic type', 'Craniosynostosis, sagittal, with dandy-walker malformation and hydrocephalus', 'Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)', 'Joubert syndrome 13', 'Amyloidosis, hereditary, transthyretin-related', 'Atrioventricular septal defect 5', 'Hyperparathyroidism 2', 'Velocardiofacial syndrome', 'Nemaline myopathy 5C, autosomal dominant', 'White-Sutton syndrome', 'Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies', 'Mental retardation, autosomal recessive 56', 'Mental retardation, autosomal recessive 12', 'Mental retardation, autosomal recessive 31', 'Mental retardation, X-linked 20', 'Triphalangeal thumb with double phalanges', 'Dandy-Walker malformation with occipital cephalocele, autosomal dominant', 'Cutis laxa, autosomal recessive, type IIC', 'Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies', 'Intellectual developmental disorder with impaired language and dysmorphic facies', 'Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis', 'Hypoparathyroidism-retardation-dysmorphism syndrome', 'Poikiloderma, hereditary sclerosing', 'Spinocerebellar ataxia, autosomal recessive 11', 'Neuronopathy, distal hereditary motor, type VIII', 'Candidiasis, familial, 6, autosomal dominant', 'Radioulnar synostosis', 'Brachydactyly, type A1, B', 'Brachydactyly, type E2', 'Synovial chondromatosis, familial, with dwarfism', 'Schimke X-linked mental retardation syndrome', 'Epiphyseal dysplasia, multiple, 4', 'Microcephaly 2, primary, autosomal recessive, with or without cortical malformations', 'Microphthalmia with limb anomalies', 'Atrioventricular septal defect 4', 'Myopathy, myofibrillar, 2, mfm2', 'Complement factor D deficiency', 'Mental retardation, X-linked 50', 'Mental retardation, autosomal recessive 11', 'Split-Hand and split-foot with hypodontia', 'Ectodermal dysplasia/short stature syndrome', 'Inflammatory bowel disease 25, early onset, autosomal recessive', 'Exostoses with anetodermia and brachydactyly, type E', 'Myopathy, congenital', 'Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency', 'Talo-Patello-Scaphoid osteolysis, synovitis, and short fourth metacarpals', 'Avascular necrosis of femoral head, primary, 2', 'Thumbs, stiff, with brachydactyly type A1 and developmental delay', 'Amyotonia congenita', 'Symphalangism, c. s. Lewis type', 'Suleiman-El-Hattab syndrome', 'Pseudovaginal perineoscrotal hypospadias', 'Spastic paraplegia 54, autosomal recessive', 'Hairy elbows', 'Spinocerebellar ataxia 8', 'Crisponi/cold-induced sweating syndrome 1', 'HOMOCARNOSINOSIS', 'Hashimoto thyroiditis', 'Mesomelic dysplasia, Savarirayan type', 'Macular degeneration, early-onset', 'Myopathy, distal, 1', 'Cardioauditory syndrome of sanchez cascos', 'Oliver syndrome', 'Immunodeficiency due to ficolin 3 deficiency', 'Cleft palate, cardiac defect, genital anomalies, and ectrodactyly', 'Mercaptolactate-Cysteine disulfiduria', 'Chorea, benign familial', 'Humeroradial synostosis', 'Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay', 'Mental retardation, autosomal recessive 33', 'Limb defects, distal transverse, with mental retardation and spasticity', 'Tetramelic monodactyly', 'Dyslexia, susceptibility to, 2', 'Immunodeficiency 26 with or without neurologic abnormalities', 'Biemond syndrome II', 'Electroencephalographic peculiarity: 14 and 6 per sec. positive spikephenomenon', 'Electroencephalographic peculiarity: fronto-precentral beta wave groups', 'Ribose 5-phosphate isomerase deficiency', 'Ciliary dyskinesia, primary, 20', 'Sudden cardiac failure, alcohol-induced', 'Retinitis pigmentosa 18', 'Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy', 'Intellectual developmental disorder, autosomal recessive 4', 'Lithium transport', 'Dyskeratosis, hereditary benign intraepithelial', 'Complement component 8 deficiency, type II', 'Orofacial cleft 6, susceptibility to', 'Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies', 'Agenesis of cerebral white matter', 'Lopes-Maciel-Rodan syndrome', 'Presenile dementia, Kraepelin type', 'Cleidocranial dysplasia', 'Deafness, sensorineural, with pituitary dwarfism', 'Femoral-facial syndrome', 'DYSTELEPHALANGY', 'Mirror movements 4', 'Charcot-Marie-Tooth disease, axonal, type 2H', 'Triphalangeal thumbs with brachyectrodactyly', 'Dental anomalies and short stature', 'Cardiomyopathy, familial hypertrophic, 21', 'Upington disease', 'Endometriosis, susceptibility to, 1', 'Spondyloepimetaphyseal dysplasia with joint laxity, type 2', 'FG syndrome 5', 'Angioma serpiginosum, autosomal dominant', 'Breast-Ovarian cancer, familial, susceptibility to, 1', 'Immunodeficiency 79', 'Marfan lipodystrophy syndrome', 'Mycobacterial and viral infections, susceptibility to, autosomal recessive', 'SKUNK N-BUTYLMERCAPTAN, INABILITY TO SMELL', 'Anosmia, congenital', 'ANOSMIA', 'Isovaleric acid, inability to smell', 'Hydrocephalus, congenital communicating, 1', 'Mental retardation, autosomal recessive 35', 'Czech dysplasia, Metatarsal type', 'Marshall-Smith syndrome', 'Grant syndrome', 'Alport syndrome 3, autosomal dominant', 'Parkinson disease, late-onset', 'Mesomelic dysplasia, Kantaputra type', 'Exstrophy of bladder', 'Neurodevelopmental disorder with seizures and brain abnormalities', 'Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type', 'Galloway-Mowat syndrome 5', 'Delayed sleep phase disorder, susceptibility to', 'Advance sleep phase syndrome, familial, 4', 'Short sleep, familial natural, 2', 'Glaucoma 1, open angle, A', 'ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF', 'Rhabdoid tumor predisposition syndrome 1', 'Simpson-Golabi-Behmel syndrome, type 1', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11)', 'Brachydactyly, type D', 'Isolated growth hormone deficiency, type III, with agammaglobulinemia', 'Panic disorder 1', 'Intellectual developmental disorder and hypogonadotropic hypogonadism', 'Acne inversa, familial', 'Immunodeficiency 30', 'Skeletal dysplasia, mild, with joint laxity and advanced bone age', 'Arrhythmogenic right ventricular dysplasia, familial, 6', 'Mitochondrial DNA depletion syndrome 20 (MNGIE type)', 'Fanconi anemia, complementation group O', 'Deafness, congenital heart defects, and posterior embryotoxon', 'Anosmia for isobutyric acid', 'Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant', 'Chromosome 14q11-q22 deletion syndrome', 'Trichorhinophalangeal syndrome, type I', 'Polydactyly, postaxial, type A9', 'Laurence-Moon syndrome', 'Neurodevelopmental disorder with language delay and seizure', 'Fingerprints, absence of', 'Posterior column ataxia', 'Retinitis pigmentosa 29', 'Facial palsy, familial recurrent peripheral', 'Myoclonic epilepsy, Hartung type', 'Epileptic encephalopathy, early infantile, 38', 'Tibia vara', 'Brachydactyly, type A3', 'Sugarman brachydactyly', 'Spastic paraplegia with neuropathy and poikiloderma', 'KELOIDS', 'Polyglucosan body myopathy 2', 'Athabaskan brainstem dysgenesis syndrome', 'Congenital disorder of glycosylation, type IIi', 'Myopathy, myofibrillar, 8', 'Hunter-Mcalpine craniosynostosis syndrome', 'Hypocalcemia, autosomal dominant 1', 'Parasomnia, Sleepwalking type', 'Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity', 'Joubert syndrome 35', 'Sandestig-Stefanova syndrome', 'Pterygium, antecubital', 'Obesity, hyperphagia, and developmental delay', 'Coffin-Siris syndrome 10', 'Mental retardation associated with psoriasis', 'Ciliary dyskinesia, primary, 35', 'Short-Rib thoracic dysplasia 17 with or without polydactyly', 'Epilepsy, idiopathic generalized, susceptibility to, 16', 'Asphyxiating thoracic dystrophy 2', 'Spastic paraplegia 83, autosomal recessive', 'Broad terminal phalanges, familial', 'Lipomatosis, multiple', 'Molar I reinclusion', 'MACROGLOSSIA', 'Osteoarthritis with mild chondrodysplasia', 'Porokeratosis plantaris, palmaris, et disseminata', 'Tumoral calcinosis, normophosphatemic, familial', 'Leukodystrophy, hypomyelinating, 10', 'Candidiasis, familial, 4', 'Birk-Barel mental retardation dysmorphism syndrome', 'Diets-Jongmans syndrome', 'Neurodegeneration due to cerebral folate transport deficiency', 'Trigeminal neuralgia', 'Prosopagnosia, hereditary', 'Hypotonia, infantile, with psychomotor retardation and characteristic facies 1', 'Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans', 'Xp11.22 microduplication syndrome', 'Paroxysmal extreme pain disorder', 'Muscle hypertrophy', 'Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly', 'Neurodevelopmental disorder with speech impairment and with or without seizures', 'Gigantiform cementoma, familial', 'Hyperoxaluria, primary, type II', 'Cone-Rod dystrophy 6', 'Charcot-Marie-Tooth disease, axonal, type 2L', 'C6 deficiency', 'Hypertrophia musculorum vera', 'Tyrosinemia, type III', 'Spastic paraplegia 72, autosomal recessive', 'Fraser syndrome 2', 'Nemaline myopathy 2, autosomal recessive', 'MICROTIA-ANOTIA', 'Neurodevelopmental disorder with neuromuscular and skeletal abnormalities', 'Epilepsy, early-onset, with or without developmental delay', 'Coxoauricular syndrome', 'Cardiomyopathy, dilated, 1JJ', 'Rhabdomyosarcoma 1', 'Spondyloepiphyseal dysplasia, Stanescu type', 'Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2', 'Mental retardation, autosomal recessive 28', 'Amelogenesis imperfecta, type IK', 'Wahab syndrome', 'Nemaline myopathy 10', 'Complement component c1r deficiency', 'Hypertrichosis, congenital anterior cervical, with peripheral sensory', 'Hand osteoarthritis', 'Normokalemic periodic paralysis', 'Central centrifugal cicatricial alopecia', 'Fibrochondrogenesis 1', 'Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities', 'Persistent mullerian duct syndrome, types I and II', 'Emery-Dreifuss muscular dystrophy 7, autosomal dominant', 'Pituitary adenoma 2, GH-secreting', 'Angelman syndrome', 'Peroneus tertius muscle, absence of', 'Schizophrenia 3', 'Rhizomelic dysplasia, Patterson-Lowry type', 'Epilepsy, benign occipital', 'Gastrocutaneous syndrome', 'Rhizomelic dysplasia, Ain-Naz type', 'Leishmaniasis, tegumentary', 'Multiple system atrophy 1, susceptibility to', 'Acrorenal syndrome', 'Marfan syndrome', 'Polydactyly, preaxial I', 'Seckel syndrome 8', 'Methylmalonic acidemia and homocysteinemia, Cblx type', 'Charcot-Marie-Tooth disease, type 4B1', 'Cervical vertebrae, agenesis of', 'Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities', 'Pontocerebellar hypoplasia, type 11', 'Spinocerebellar ataxia, X-linked 2', '3MC syndrome 3', 'Paragangliomas 3', 'Renal tubular dysgenesis', 'Cortical dysplasia, complex, with other brain malformations 12', 'Neurodevelopmental disorder with or without variable brain abnormalities', 'HYPERREFLEXIA', 'Hemifacial spasm, familial', 'Spinocerebellar ataxia 37', 'Lowry-Maclean syndrome', 'Acromesomelic dysplasia 4', 'Rubinstein-Taybi syndrome 1', 'Developmental delay, behavioral abnormalities, and neuropsychiatric disorders', 'Epileptic encephalopathy, early infantile, 88', 'Myoclonic epilepsy, juvenile, 2', 'Mental retardation, autosomal recessive 23', 'Psoriasis 15, pustular, susceptibility to', 'Charcot-Marie-Tooth disease, demyelinating, type 1A', 'Epiphyseal dysplasia, Baumann type', 'Pontocerebellar hypoplasia, type 5', 'Keratosis palmaris et plantaris with clinodactyly', 'Spastic paraplegia with associated extrapyramidal signs', 'Neurodegeneration with brain iron accumulation 1', 'Scapuloperoneal syndrome, neurogenic, Kaeser type', 'Holt-Oram syndrome', 'Encephalitis, acute, infection (viral)-induced, susceptibility to, 11', 'Arthrogryposis-Like hand anomaly and sensorineural deafness', 'Myopathy, congenital, with respiratory insufficiency and bone fractures', 'Spondylometaphyseal dysplasia, Algerian type', 'Dyslexia, susceptibility to, 1', 'Hyperaldosteronism, familial, type IV', 'Synpolydactyly 2', 'Achondroplasia', 'Hypogonadism with low-grade mental deficiency and microcephaly', 'Cerebral creatine deficiency syndrome 2', 'Metaphyseal anadysplasia 2', 'Intellectual developmental disorder, autosomal recessive 71', 'Ataxia with fasciculations', 'Optic atrophy 8', 'Spondyloepimetaphyseal dysplasia, Missouri type', 'Laron syndrome', 'Epilepsy, pyridoxine-dependent', 'Ear antitragus, tag at base of', 'Myelinated optic nerve fibers', 'Ear folding', 'Exchondrosis of pinna, posterior', 'Labia minora, incomplete adhesion of', 'Ear malformation', 'Unique green phenomenon', 'Ossified ear cartilages', 'Adamantinoma of long bones', 'Ocular cicatricial pemphigoid', 'Cancer, familial, with in vitro radioresistance', 'Parotidomegaly, hereditary bilateral', 'Branchial cleft anomaliesbranchial cysts, included', 'Fibromatosis, gingival, 5', 'Syringomas, multiple', 'Dermatosis papulosa nigra', 'Insect stings, hypersensitivity to', 'Lichen planus, familial', 'Callosities, hereditary painful', 'Dermal ridges, patternless', 'Comedones, familial dyskeratotic', 'Papillomatosis, florid, of nipple', 'Pseudoatrophoderma colli', 'Trichilemmal cyst 1', 'Acromial dimples', 'Lacrimoauriculodentodigital syndrome-3', 'Orofacial cleft 3', 'Nasal alar collapse, bilateral', 'Nasal groove, familial transverse', 'Glutamine deficiency, congenital', 'Lip, median nodule of upper', 'Hirschsprung disease, susceptibility to, 3', 'Epilepsy, benign neonatal, 2', 'Toe, rotated fifth', 'Trichodiscomas, familial multiple', 'Ringed hair', 'Tongue, pigmented fungiform papillae of', 'BRADYOPSIA', 'Myopia, infantile severe', 'Myopia 15', 'Ptosis, hereditary congenital 1', 'Deafness, autosomal recessive 107', 'Deafness, autosomal recessive 47', 'Deafness, autosomal recessive 106', 'Deafness, autosomal recessive 6', 'Deafness, autosomal recessive 96', 'Deafness, autosomal dominant 24', 'Tune deafness', 'Deafness, autosomal recessive 33', 'Deafness, autosomal dominant 54', 'Deafness, autosomal dominant 15', 'Deafness, autosomal dominant 52', 'Deafness, autosomal recessive 55', 'Dermatitis herpetiformis, familial', 'Polyhydramnios, chronic idiopathic', 'Candidiasis, familial, 3', 'Melanoma, cutaneous malignant, susceptibility to, 9', 'Focal facial dermal dysplasia 4', 'Spinal muscular atrophy, Facioscapulohumeral type', 'Butyrylcholinesterase deficiency', 'Elastosis perforans serpiginosa', 'Milia, multiple eruptive', 'Teeth, odd shapes oflobodontia, included', 'Phlebectasia of lips', 'Paramolar tubercle of bolk', 'Incisors, fused mandibular', 'Teeth, fused', 'Cataract, autosomal recessive congenital 4', 'Ectopia lentis', 'Cataract 35', 'Cataract, crystalline coralliform', 'Dermal ridges, nelson syndrome', 'Deafness, autosomal dominant 2B', 'Deafness, aminoglycoside-induced', 'Deafness, unilateral', 'Deafness, autosomal dominant 18', 'Deafness, autosomal recessive 91', 'Deafness, autosomal dominant nonsyndromic sensorineural 7', 'Ear without helix', 'Acroleukopathy, symmetric', 'Nasal hyperpigmentation, familial transverse', 'Hyperpigmentation, familial progressive, 1', 'Raindrop hypopigmentation', 'Hyperpigmentation of fuldauer and kuijpers', 'Hydatidiform mole, recurrent, 2', 'Myopia 19, autosomal dominant', 'Myopia 26, X-linked, female-limited', 'Myopia 6', 'Nanophthalmos 2', 'Hyperopia, high', 'Hyperhidrosis, gustatory', 'Deafness, autosomal recessive 27', 'Deafness, autosomal dominant nonsyndromic sensorineural 3', 'Deafness, autosomal recessive 59', 'Deafness, autosomal recessive 61', 'Deafness, autosomal recessive 51', 'Deafness, autosomal recessive 17', 'Deafness, autosomal recessive 14', 'Deafness, autosomal recessive 21', 'Deafness, autosomal recessive 16', 'Deafness, autosomal dominant 76', 'Deafness, autosomal dominant nonsyndromic sensorineural 10', 'Deafness, autosomal recessive 31', 'Deafness, autosomal dominant 75', 'Deafness, autosomal dominant 25', 'Deafness, autosomal recessive 115', 'Deafness, autosomal recessive 116', 'Deafness, autosomal recessive 113', 'Deafness, autosomal recessive 53', 'Deafness, autosomal recessive 26', 'Deafness, neurosensory, autosomal recessive 5', 'Deafness, neurosensory, autosomal recessive 18', 'Deafness, autosomal dominant 48', 'Deafness, autosomal dominant 53', 'Deafness, neural, congenital moderate', 'Deafness, autosomal dominant 30', 'Deafness, autosomal recessive 99', 'Deafness, autosomal dominant 68', 'Deafness, autosomal dominant 44', 'Deafness, autosomal dominant nonsyndromic sensorineural 12', 'Deafness, autosomal recessive 114', 'Deafness, autosomal dominant 47', 'Deafness, autosomal dominant 27', 'Deafness, autosomal recessive 97', 'Deafness, autosomal dominant nonsyndromic sensorineural 13', 'Deafness, autosomal recessive 22', 'Deafness, autosomal recessive 100', 'Deafness, autosomal dominant 37', 'Deafness, autosomal dominant 40', 'Deafness, autosomal dominant 69', 'DEAFNESS, Y-LINKED 2', 'Cataract, zonular pulverulent 3', 'Dystransthyretinemic euthyroidal hyperthyroxinemia', 'Anonychia congenita', 'Koilonychia, hereditary', 'Porokeratosis 6, disseminated superficial Actinic type', 'Papillomatosis, familial cutaneous', 'Acanthosis nigricans', 'Nipples inverted', 'Hypertrichosis universalis congenita, Ambras type', 'Iris pigment epithelium anomalies', 'Dosage-Sensitive sex reversal', 'Darwinian point of pinna', 'Ear pits, posterior helical', 'Achoo syndrome', 'Retinitis pigmentosa 55', 'Retinitis pigmentosa, late-adult onset', 'Retinitis pigmentosa 67', 'Earring holes, natural', 'Rheumatoid nodulosis', 'Squamous cell carcinoma, head and neck', 'Steatocystoma multiplex', 'Nanophthalmos 1', 'Malocclusion due to protuberant upper front teeth', 'Deafness, autosomal dominant 3B', 'Deafness, autosomal recessive 77', 'Deafness, autosomal dominant 31', 'Hematuria, benign familial, 2', 'Corneal dystrophy, band-shaped', 'Myofibromatosis, infantile 2', 'Hypersensitivity pneumonitis, familial', 'Cataract, congenital, cerulean type, 5', 'Cataract 45', 'Cataract, crystalline aculeiform', 'Cataract 13 with adult i phenotype', 'Ureter, bifid or double', 'Ichthyosis, congenital, autosomal recessive 12', 'Cleft palate-lateral synechia syndrome', 'Cataract, nuclear total', 'Cataract, age-related nuclear', 'Nonarteritic anterior ischemic optic neuropathy, susceptibility to', 'Nail disorder, nonsyndromic congenital, 8', 'Dowling-Degos disease', 'Cataract 43', 'Microtia - eye coloboma - imperforation of the nasolacrimal duct', 'Macular dystrophy, X-linked', 'Macular dystrophy, fenestrated Sheen type', 'Cataract, anterior polar, 1', 'Macular degeneration, age-related, 2', 'Ectopia pupillae', 'Anodontia of permanent dentition', 'Nevi flammei, familial multiple', 'Uvula, bifid', 'Leber congenital amaurosis 17', 'Deafness, autosomal dominant 79', 'Deafness, autosomal dominant nonsyndromic sensorineural 5', 'Deafness, autosomal dominant nonsyndromic sensorineural 4', 'Breast-ovarian cancer, familial, susceptibility to, 5', 'Teeth present at birth', 'Pulmonary bullae causing pneumothorax', 'Enuresis, nocturnal, 1', 'Enuresis, nocturnal, 2', 'Deafness, congenital neurosensory, autosomal recessive 39', 'Deafness, congenital neurosensory, autosomal recessive 40', 'Deafness, autosomal recessive 85', 'Deafness, autosomal recessive 71', 'Deafness, autosomal recessive 44', 'Deafness, autosomal recessive 45', 'Deafness, autosomal recessive 83', 'Deafness, autosomal recessive 62', 'Deafness, congenital neurosensory, autosomal recessive 38', 'Deleted in azoospermia', 'Hyperparathyroidism, primary, caused by water clear cell hyperplasia', 'Orofacial cleft 14', 'Hypotrichosis 15', 'Hypotrichosis 2', 'Glaucoma 3, primary infantile, B', 'Night blindness, congenital stationary, autosomal dominant 3', 'Night blindness, congenital stationary, autosomal dominant 2', 'Preimplantation embryonic lethality 1', 'Deafness, neurosensory, autosomal recessive 46', 'Small cell cancer of the lung', 'Mediosternal depigmentation line', 'Ichthyosis, Bullous type', 'Parotid salivary glands, polycystic dysgenetic disease of', 'Alopecia, familial focal', 'Cleft soft palate', 'Coloboma of macula', 'Melanoma, cutaneous malignant, susceptibility to, 8', 'Melanoma, cutaneous malignant, susceptibility to, 2', 'Lentiginosis, inherited patterned', 'Hairy palms and soles', 'Otosclerosis 10', 'Aplasia cutis congenita, nonsyndromic', 'Vesicoureteral reflux, X-linked', 'Melanoma, malignant familial intraocular', 'Melanoma, uveal', 'Nevus flammeus of nape of neck', 'Incisors, rotation of upper central', 'Testicular germ cell tumor 1', 'Ureter, cancer of', 'Hyperpigmentation of eyelids', 'TRISTICHIASIS', 'Pruritic urticarial papules and plaques of pregnancy', 'DISTICHIASIS', 'Striae distensae, familial', 'Nystagmus 7, congenital, autosomal dominant', 'Deafness, autosomal recessive 88', 'Oncocytoma', 'Keratoconus 7', 'Keratoconus 8', 'Keratoconus 6', 'Keratoconus 5', 'Dowling-Degos disease 3', 'Hypospadias 3, autosomal', 'Preauricular fistulae, congenital', 'Cafe-Au-Lait spots, multiple', 'Canine teeth, absence of upper permanent', 'Thyroid carcinoma, familial medullary', 'Thyroid cancer, nonmedullary, 3', 'Thyroid cancer, nonmedullary, 5', 'Nasopharyngeal carcinoma, susceptibility to, 3', 'Central incisors, absence of', 'Wilms tumor 3', 'Wilms tumor 4', 'Multiple fibroadenomas of the breast', 'Hyperhidrosis palmaris et plantaris', 'TAURODONTISM', 'Palmoplantar keratoderma, nonepidermolytic, focal 2', 'Keratoderma, palmoplantar, punctate type IB', 'Prostate cancer, hereditary, X-linked 1', 'Incisors, lower central, absence of', 'Teratoma, ovarian', 'Ovarian fibromata', 'Otitis media, susceptibility to', 'Pregnancy loss, recurrent, susceptibility to, 1', 'Preeclampsia/eclampsia 5', 'Pregnancy loss, recurrent, susceptibility to, 2', 'Pregnancy loss, recurrent, susceptibility to, 3', 'Hemifacial hyperplasia', 'Immunodeficiency 29', 'Polydactyly, preaxial IV', 'Li-Ghorgani-Weisz-Hubshman syndrome', 'Trochlea of the humerus, aplasia of', 'Keratitis, hereditary', 'Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy', 'Split-Hand/foot malformation 6', 'Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant', 'Chromosome 6q25-q25 deletion syndrome', 'Megaepiphyseal dwarfism', 'Brachydactyly, type E', 'Epiphyseal dysplasia, multiple, 6', 'Immunodeficiency 39', 'Neuropathy, hereditary sensory, type IF', 'Ventriculomegaly with cystic kidney disease', 'Dysphasia, familial developmental', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9', 'Hirschsprung disease, cardiac defects, and autonomic dysfunction', 'Filippi syndrome', 'Muscular dystrophy, adult-onset, with leukoencephalopathy', 'Coloboma-Obesity-Hypogenitalism-Mental retardation syndrome', 'Growth hormone deficiency, isolated, type IV', 'Polydactyly, postaxial, with progressive myopia', 'Oral sensibility, disturbance of', 'Protrusio acetabuli', 'Orofacial cleft 13', 'Paine syndrome', 'Hypoplastic left heart syndrome 2', 'Epilepsy, familial focal, with variable foci 2', 'Tetramelic deficiencies, ectodermal dysplasia, deformed ears, andother abnormalities', 'Megabladder, congenital', 'Tardive dyskinesia', 'Retinal degeneration and epilepsy', 'Deafness, autosomal dominant 9', 'Hypergonadotropic hypogonadism', 'Mental retardation, microcephaly, epilepsy, and coarse face', 'Mental retardation, X-linked, with isolated growth hormone deficiency', 'Microcephaly 8, primary, autosomal recessive', 'Peyronie disease', 'Vesicoureteral reflux 8', 'GAPO syndrome', 'HYPOGLOSSIA-HYPODACTYLIA', 'Adrenocortical carcinoma, pediatric', 'Chromosome 1q21.1 duplication syndrome', 'Ataxia, deafness, and cardiomyopathy', 'Ulnar hypoplasia', 'Scalp defects and postaxial polydactyly', 'Precocious puberty, central', 'Leber optic atrophy', 'Gerstmann-Straussler disease', 'Dentinogenesis imperfecta 1', 'Leukodystrophy, hypomyelinating, 9', 'Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features', 'Tay-Sachs disease', 'Mental retardation, X-linked 2', 'Migraine, with or without aura, susceptibility to, 13', 'Hydrocephalus, congenital, 5, susceptibility to', 'Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant', 'Hemophilia A', 'Synostosis, carpal, with dysplastic elbow joints and brachydactyly', 'Spinocerebellar ataxia 44', 'Tremor, hereditary essential, 4', 'Laryngeal adductor paralysis', 'Epilepsy, benign neonatal, 3', 'Geniospasm 1', 'Polyposis syndrome, hereditary mixed, 2', 'Lentiginosis, centrofacial neurodysraphic', 'Intellectual developmental disorder, autosomal dominant 66', 'Joint laxity, short stature, and myopia', 'Nephrotic syndrome, type 17', 'Hypouricemia, renal, 1', 'Alopecia-Mental retardation syndrome 2', 'Cutis verticis gyrata and mental deficiency', 'Ichthyosis-Mental retardation syndrome with large keratohyalin granules in the skin', 'Episodic ataxia, type 6', 'C7 deficiency', 'Mesomelic limb shortening and bowing', 'Spondylometaphyseal dysplasia with corneal dystrophy', 'Deafness, autosomal dominant 78', 'Frontotemporal dementia', 'Lethal short-limb skeletal dysplasia, al Gazali type', 'Anencephaly', 'Epilepsy, juvenile myoclonic, susceptibility to, 9', 'Colorectal cancer, hereditary nonpolyposis, type 4', 'Nephrolithiasis, calcium oxalate', 'Sonoda syndrome', 'Parietal foramina with cleidocranial dysplasia', 'Advanced sleep phase syndrome, familial, 3', 'Vitreoretinopathy with phalangeal epiphyseal dysplasia', 'Dystonia 31', 'Attention deficit-hyperactivity disorder', 'Surfactant metabolism dysfunction, pulmonary, 3', 'Hydrocephalus, nonsyndromic, autosomal recessive 1', 'Kapur-Toriello syndrome', 'Lissencephaly, X-linked, 2', '46XY sex reversal 5', 'Tibia, hypoplasia or aplasia of, with polydactyly', 'Aplasia of extensor muscles of fingers, unilateral, with generalizedpolyneuropathy', 'Jaundice, familial obstructive, of infancy', 'Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5', 'Amelogenesis imperfecta, hypomaturation type, iia4', 'Amyloidosis, Finnish type', 'Li-Fraumeni syndrome 2', 'Alpha-aminoadipic and alpha-ketoadipic aciduria', 'Torsion dystonia with onset in infancy', 'Leukoencephalopathy with dystonia and motor neuropathy', 'Stuttering, familial persistent, 1', 'White forelock with malformations', 'Trichorhinophalangeal syndrome, type II', 'Amelogenesis imperfecta, hypomaturation type, iia3', 'Exercise intolerance, riboflavin-responsive', 'Thanatophoric dysplasia, type I', 'Major affective disorder 1', 'Intellectual developmental disorder, autosomal dominant 3', 'Femur, unilateral bifid, with monodactylous ectrodactyly', 'Hyperbilirubinemia, Rotor type, digenic', 'Fundus dystrophy, pseudoinflammatory, recessive form', 'Nicolaides-Baraitser syndrome', 'Ehlers-Danlos syndrome, periodontal type, 1', 'Adams-Oliver syndrome 4', 'Muscular dystrophy, Barnes type', 'Mental retardation, autosomal recessive 10', 'Aplastic anemia', 'Leukemia, chronic myeloid', 'AICA-ribosiduria due to ATIC deficiency', 'Neurodevelopmental disorder with absent language and variable seizures', 'Retinal dystrophy with leukodystrophy', 'Campomelic dysplasia', 'Adie pupil', 'Facial spasm', 'Nephrotic syndrome, type 5, with or without ocular abnormalities', 'Chromosome 18p deletion syndrome', 'Nephrotic syndrome, type 19', 'L-2-hydroxyglutaric aciduria', 'Microcephaly 24, primary, autosomal recessive', 'Photoparoxysmal response 1', 'Split-Foot deformity with mandibulofacial dysostosis', 'Spastic paraplegia 44, autosomal recessive', 'Muscular dystrophy, hemizygous Lethal type', 'Pseudoachondroplasia', 'Epidermolysis bullosa simplex 2E, with migratory circinate erythema', 'Dysautonomia-Like disorder', 'Hemihyperplasia, isolated', 'Mesangial sclerosis, diffuse renal, with ocular abnormalities', 'Oculoectodermal syndrome', 'Muscular dystrophy, pseudohypertrophic, with internalized capillaries', 'Pituitary adenoma, growth hormone-secreting, 1', 'Abducens palsy', 'Meckel syndrome 11', 'Acne inversa, familial, 3', 'Cortical dysplasia, complex, with other brain malformations 3', 'Phocomelia-Ectrodactyly, ear malformation, deafness, and sinus arrhythmia', 'Kifafa seizure disorder', 'Arms, malformation of', 'Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies', 'Apnea, central sleep', 'Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)', 'Hyper-IgE recurrent infection syndrome 4A, autosomal dominant', 'Brachydactyly, type A6', 'Dystonia, focal, task-specific', 'Myoclonus, familial, 2', 'Chromosome 17q23.1-q23.2 duplication syndrome', 'Musk, inability to smell', 'Craniosynostosis with fibular aplasia', 'Coffin-Siris syndrome 5', 'Epiphyseal dysplasia of femoral head, myopia, and deafness', 'MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6', 'Melanoma-Astrocytoma syndrome', 'Hirschsprung disease with polydactyly, renal agenesis, and deafness', 'Epilepsy, childhood absence, susceptibility to, 5', 'Pontocerebellar hypoplasia, type 2B', 'Split-Hand/foot malformation 1', 'Talonavicular coalition', 'Thumb deformity and alopecia', 'Ehlers-Danlos syndrome, arthrochalasia type, 2', 'Giant axonal neuropathy 1, autosomal recessive', 'Nievergelt syndrome', 'Muscular dystrophy, limb-girdle, autosomal recessive 27', 'Episodic pain syndrome, familial, 2', 'Dementia/parkinsonism with non-alzheimer amyloid plaques', 'Spinal muscular atrophy, type IV', 'Digital arthropathy-brachydactyly, familial', 'Cutis laxa, autosomal recessive, type IIE', 'Microcephaly, congenital heart disease, unilateral renal agenesis,and hyposegmented lungs', 'TORTICOLLIS', 'Megalencephalic leukoencephalopathy with subcortical cysts 3', 'Wiedemann-Rautenstrauch syndrome', 'Cystic disease of lung', 'Patella aplasia-hypoplasia', 'Syndactyly-Polydactyly-Earlobe syndrome', 'Spastic paraplegia 85, autosomal recessive', 'Intellectual developmental disorder, autosomal recessive 7', 'Corneal fleck dystrophy', 'Vocal cord paralysis and ptosis', 'Pleuropulmonary blastoma', 'Metaphyseal dysostosis, mental retardation, and conductive deafness', 'Choroidal dystrophy, central areolar 2', 'Alzheimer disease 10', 'Dystonia 15, myoclonic', 'Maxillofacial dysostosis', 'Waardenburg syndrome, type 3', 'Ectodermal dysplasia and neurosensory deafness', 'Cranial nerves, congenital paresis of', 'Glycine encephalopathy 2', 'Vitreoretinopathy, neovascular inflammatory', 'Epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia', 'Epilepsy, familial adult myoclonic, 6', 'Wiedemann-Steiner syndrome', 'Epilepsy, familial focal, with variable foci 3', 'Amyotrophic lateral sclerosis 3', 'Myasthenic syndrome, congenital, 3A, slow-channel', 'Gastric cancer, hereditary diffuse', 'Intellectual developmental disorder with autism and macrocephaly', 'Lessel-Kubisch syndrome', 'Crome syndrome', 'Epilepsy, photogenic, with spastic diplegia and mental retardation', 'Hypomagnesemia, seizures, and mental retardation 2', 'Retinitis pigmentosa 88', 'Retinitis pigmentosa 57', 'Lissencephaly 9 with complex brainstem malformation', 'Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome', 'ANONYCHIA-ECTRODACTYLY', 'Triphalangeal thumb-polysyndactyly syndrome', 'Lipoma of the conjunctiva', 'Retinitis pigmentosa 71', 'Neuropathy, hereditary sensory and autonomic, type IIB', 'Ciliary dyskinesia, primary, 14', 'Myotonia congenita, autosomal recessive', 'Epilepsy, familial temporal lobe, 7', 'Testicular anomalies with or without congenital heart disease', 'Mental retardation, X-linked, syndromic 12', 'Osteochondrodysplasia, brachydactyly, and overlapping malformed digits', 'Congenital heart defects and ectodermal dysplasia', 'Glomerulopathy with fibronectin deposits 2', 'Mental retardation, X-linked 95', 'Amelogenesis imperfecta, hypomaturation type, IIA6', 'Amelogenesis imperfecta, type IIIB', 'Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay', 'Intellectual developmental disorder, autosomal recessive 59', 'Brachydactyly-Ectrodactyly with fibular aplasia or hypoplasia', 'Epilepsy, idiopathic generalized, susceptibility to, 3', 'Al-Raqad syndrome', 'Megalencephalic leukoencephalopathy with subcortical cysts 2A', 'Mental retardation, x-linked syndromic, Raymond type', 'Pelvic lipomatosis with crossed renal ectopia', 'Charcot-Marie-Tooth disease, demyelinating, type 4F', 'Neuropathy, hereditary motor and sensory, with deafness, mental retardation,and absent sensory large myelinated fibers', 'Rombo syndrome', 'Intellectual developmental disorder, autosomal recessive 16', 'Adactylia, unilateral', 'Retinitis pigmentosa 37', 'Epidermodysplasia verruciformis 2', 'C1q deficiency', 'Glioma susceptibility 2', 'Microcephaly 30, primary, autosomal recessive', 'Brain small vessel disease 3', 'Spondylometaphyseal dysplasia, X-linked', 'Rett syndrome, congenital variant', 'Alzheimer disease 2', 'Colorectal cancer, susceptibility to, 12', 'Chromosome 2q37 deletion syndrome', 'Hypomelia with mullerian duct anomalies', 'Amastia, bilateral, with ureteral triplication and dysmorphism', 'Muscular dystrophy, congenital, with rapid progression', 'Neurodevelopmental disorder with central hypotonia and dysmorphic facies', 'Saul-Wilson syndrome', 'Huntington disease-like 3', 'Angiolipomatosis, familial', 'Intellectual developmental disorder, autosomal dominant 72', 'Megalencephaly with dysmyelination', 'Pontocerebellar hypoplasia, type 2C', 'Spastic diplegia, Infantile type', 'Woodhouse-Sakati syndrome', 'Hypochondroplasia', 'Ruvalcaba syndrome', 'Myopia 1, X-linked', 'Neurodevelopmental disorder with speech impairment and dysmorphic facies', 'Epilepsy, reading', 'Townes-Brocks syndrome 2', 'Cleft palate, psychomotor retardation, and distinctive facial features', 'Combined oxidative phosphorylation deficiency 6', 'Pachygyria with mental retardation, seizures, and arachnoid cysts', 'Intellectual developmental disorder, autosomal dominant 52', 'Polycystic kidney disease 7', 'Symphalangism, proximal, 1B', 'Intellectual developmental disorder with speech delay and axonal peripheral neuropathy', 'Attention deficit-hyperactivity disorder, susceptibility to, 7', 'Pierre Robin syndrome and oligodactyly', 'Myoclonic epilepsy, juvenile, susceptibility to, 4', 'Mental retardation, autosomal recessive 29', 'Dystonia 23', 'Advanced sleep phase syndrome, familial, 1', 'Coffin-Siris syndrome 3', 'Leber congenital amaurosis 10', 'Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant', 'Microphthalmia, isolated 4', 'Hyperekplexia 2', 'Spondyloepiphyseal dysplasia with atlantoaxial instability', 'Neuronopathy, distal hereditary motor, type I', 'Ataxia-Deafness-Retardation syndrome', 'Autism, susceptibility to, X-linked 2', 'Intellectual developmental disorder, autosomal recessive 19', 'Immunodeficiency-Centromeric instability-facial anomalies syndrome 3', 'Achondroplasia, severe, with developmental delay and acanthosis nigricans', 'Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)', 'Epilepsy with grand mal seizures on awakening', 'Lethal congenital contracture syndrome 7', 'Charcot-Marie-Tooth disease, demyelinating, type 1C', 'Epilepsy, familial adult myoclonic, 7', 'Muscular atrophy, malignant neurogenic', 'Basilar impression, primary', 'Spastic paresis, glaucoma, and mental retardation', 'Charcot-Marie-Tooth disease, dominant intermediate A', 'Aprosencephaly and cerebellar dysgenesis', 'Pemphigus vulgaris, familial', 'Mental retardation, obesity, mandibular prognathism, and eye and skinanomalies', 'Spondylometaphyseal dysplasia with cone-rod dystrophy', 'CAMPTOBRACHYDACTYLY', 'Oculocerebral syndrome with hypopigmentation', 'Bardet-Biedl syndrome 4', 'Myoclonus, cerebellar ataxia, and deafness', 'Arthrogryposis, distal, type 1B', 'Klippel-Feil syndrome 3, autosomal dominant', 'Fetal akinesia deformation sequence 2', 'Hip dysplasia, Beukes type', 'Meningioma, familial, susceptibility to', 'Ciliary dyskinesia due to transposition of ciliary microtubules', 'Ventriculomegaly and arthrogryposis', 'Langer mesomelic dysplasia', 'Split lower lip', 'Breast cancer', 'Pneumothorax, primary spontaneous', 'Intellectual developmental disorder, X-linked 88', 'Chromosome 4q32.1-q32.2 triplication syndrome', 'Multiple tumor-associated chromosome region 1', 'Wilms tumor 1', 'Wilms tumor 5', 'Prostate cancer', 'Charcot-Marie-Tooth disease, recessive intermediate D', 'Endometrial carcinoma, somatic', 'Prognathism, mandibular', 'Tarsal-Carpal coalition syndrome', 'Metaphyseal chondrodysplasia, Spahr type', 'Incisors, shovel-shaped', 'Craniosynostosis, Adelaide type', 'Microcephaly 28, primary, autosomal recessive', 'Peroxisome biogenesis disorder 2B', 'Colorectal cancer, susceptibility to, 10', 'Reticulum cell sarcoma', 'Dermoids of cornea', 'Cowden syndrome 7', 'Genitourinary tract anomalies', 'LENTIGINES', 'Hamartoma, precalcaneal congenital fibrolipomatous', 'Kyrle disease', 'Atrophia maculosa varioliformis cutis, familial', 'Parkinson disease 13', 'Ptosis, strabismus, and ectopic pupils', 'Glaucoma 1, primary open angle, C', 'Fibrosis of extraocular muscles, congenital, with synergistic divergence', 'Peeling skin syndrome 3', 'Lip, hamartomatous', 'Nephrotic syndrome, type 12', 'Preimplantation embryonic lethality 2', 'Cryptotia, familial', 'Pelvis-Shoulder dysplasia', 'Question mark ears, isolated', 'Grouped pigmentation of the macula', 'Cone-Rod dystrophy 9', 'Marcus gunn phenomenon', 'Cornea guttata with anterior polar cataracts', 'Night blindness, congenital stationary, type 1I', 'Glaucoma, primary open angle', 'Epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase', 'Deafness, autosomal dominant 58', 'Deafness, autosomal recessive 1B', 'Erythrokeratodermia variabilis et progressiva 2', 'Deafness, autosomal dominant 67', 'DEAFNESS, Y-LINKED 1', 'Deafness, autosomal recessive 20', 'Deafness, autosomal dominant 43', 'Deafness, autosomal recessive 13', 'Deafness, autosomal recessive 57', 'Deafness, autosomal dominant 16', 'Deafness, autosomal recessive 25', 'Otosclerosis 8', 'Deafness, autosomal recessive 117', 'Keratoderma, palmoplantar, with deafness', 'Deafness, autosomal recessive 94', 'Deafness, autosomal recessive 86', 'Deafness, autosomal recessive 65', 'Deafness, autosomal dominant 88', 'Deafness, autosomal recessive 93', 'Deafness, autosomal recessive 48', 'Nystagmus, congenital motor, autosomal recessive', 'Glaucoma 1, open angle, M', 'Atrichia with papular lesions', 'Oguchi disease 1', 'Oguchi disease-2', 'Vitiligo-associated multiple autoimmune disease susceptibility 6', 'Myopia 22, autosomal dominant', 'Megalencephalic leukoencephalopathy with subcortical cysts 1', 'Episodic pain syndrome, familial, 1', 'Corneal dystrophy, posterior polymorphous, 2', 'Corneal dystrophy, posterior polymorphous, 4', 'Alopecia, congenital', 'Cataract and congenital ichthyosis', 'Deafness with anhidrotic ectodermal dysplasia', 'Trichomegaly', 'Adrenocortical unresponsiveness to acth with postreceptor defect', 'Deafness, autosomal recessive 30', 'Corneal dystrophy, Central type', 'Corneal dystrophy, crystalline, of schnyder', 'Hydatidiform mole, recurrent, 4', 'Myopia-3', 'Deafness, autosomal dominant nonsyndromic sensorineural 17', 'Deafness, autosomal recessive 102', 'Myopia 27', 'Reese retinal dysplasia', 'Retinal dysplasia, primary', 'Coloboma of optic nerveoptic nerve head pits, bilateral congenital, included', 'Leber optic atrophy, susceptibility to', 'Cylindromatosis, familial', 'Mental retardation, X-linked 73', 'Myopia 24, autosomal dominant', 'Myopia 21, autosomal dominant', 'Thyroid hormone plasma membrane transport defect', 'Deiodinase, iodothyronine, type I', 'Microphthalmia, isolated 7', 'Deafness, autosomal recessive 67', 'Cataract, anterior polar, 2', 'Thyroid dyshormonogenesis 6', 'Brown syndrome', 'Deafness, autosomal recessive 36, with or without vestibular involvement', 'Deafness, autosomal dominant 22', 'Deafness, autosomal recessive 15', 'Oocyte maturation defect 12', 'Porokeratosis 7, multiple types', 'Ossicular malformations, familial', 'Emphysema, congenital lobar', 'Granulosis rubra nasi', 'Deafness, autosomal dominant 59', 'Blistering, acantholytic, of oral and laryngeal mucosa', 'Deafness, autosomal recessive 120', 'Deafness, autosomal dominant nonsyndromic sensorineural 28', 'Deafness, autosomal recessive 112', 'Deafness, autosomal recessive 98', 'Deafness, autosomal recessive 23', 'Deafness, autosomal recessive 66', 'Deafness, autosomal recessive 68', 'ACROKERATOELASTOIDOSIS', 'Aplasia cutis congenita of limbs, recessive', 'Hypotrichosis 9', 'Hypertrichosis universalis', 'Porokeratosis punctata palmaris et plantaris', 'Usher syndrome, type IIA', 'Usher syndrome, type IIC', 'Brittle cornea syndrome 2', 'Cone-Rod dystrophy, X-linked, 2', 'Retinitis pigmentosa 24', 'Spinal muscular atrophy, scapuloperoneal', 'Deafness, autosomal recessive 109', 'Corneal dystrophy, punctiform and polychromatic pre-Descemet', 'Ankyloglossia with or without tooth anomalies', 'Diastema, dental medial', 'Bronchiectasis with or without elevated sweat chloride 3', 'Impacted teeth, multiple', 'Trichoepithelioma, multiple familial, 1', 'Deafness, autosomal recessive 63', 'URETEROCELE', 'Vesicoureteral reflux 2', 'Choroidal dystrophy, central areolar 3', 'Orofacial cleft 5', 'Nystagmus 3, congenital, autosomal dominant', 'Fraser-Like syndrome', 'Cataract, autosomal recessive congenital 5', 'Hyperkeratosis lenticularis perstans', 'Uterine anomalies', 'OTOSCLEROSIS', 'Oocyte maturation defect 8', 'Pigmented nodular adrenocortical disease, primary, 3', 'Macular degeneration, age-related, 15, susceptibility to', 'Larynx, congenital partial atresia of', 'Tooth agenesis, selective, 1', 'Pulmonary hypoplasia, primary', 'Fibromatosis, gingival, with progressive deafness', 'Spermatogenic failure 31', 'Spermatogenic failure 53', 'Oocyte maturation defect 6', 'Spermatogenic failure 17', 'Spermatogenic failure 87', 'Deafness, autosomal recessive 49', 'Deafness, progressive, with stapes fixation', 'Spermatogenic failure 13', 'Oocyte maturation defect 11', 'Deafness, neurosensory, autosomal recessive 3', 'Oocyte/zygote/embryo maturation arrest 18', 'Deafness, autosomal recessive, 24', 'Oocyte maturation defect 3', 'Oocyte/zygote/embryo maturation arrest 19', 'Deafness, autosomal recessive 28', 'Otosclerosis 4', 'Tooth agenesis, selective, 7', 'Short tarsus with absence of lower eyelashes', 'Goiter, multinodular 1', 'Melanoma, uveal, susceptibility to, 2', 'Uveal melanoma, susceptibility to, 1', 'Nail disorder, nonsyndromic congenital, 9', 'Prostatic hyperplasia, benign', 'Nail disorder, nonsyndromic congenital, 5', 'Commissural lip pits', 'Preauricular tag, isolated, autosomal dominant, 1', 'Dyschromatosis universalis hereditaria', 'Dyschromatosis symmetrica hereditaria 1', 'Epidermolysis bullosa simplex 2B, generalized intermediate', 'Palmoplantar keratoderma, nonepidermolytic', 'Palmoplantar keratoderma, Bothnian type', 'Prostate cancer, hereditary, 1', 'Schwannomatosis', 'Epilepsy, familial temporal lobe, 3', 'Cochleosaccular degeneration of the inner ear with progressive cataracts', 'Myopia 2, autosomal dominant', 'Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2', 'Split-Foot malformation with mesoaxial polydactyly', 'Ciliary dyskinesia, primary, 10', 'Polydactyly, postaxial, type A10', 'Febrile convulsions, familial, 9', 'Autoimmune disease, susceptibility to, 1', 'Calvarial hyperostosis', 'Dermochondrocorneal dystrophy', 'Charcot-marie-tooth disease, type 4H', 'Meleda disease', 'Retinitis pigmentosa 78', 'Insensitivity to pain, congenital, with anhidrosis', 'Microcornea, glaucoma, and absent frontal sinuses', 'Ehlers-danlos syndrome, type I', 'Retinitis pigmentosa 42', 'AREDYLD', 'Attention deficit-hyperactivity disorder 8', 'Short stature and facioauriculothoracic malformations', 'Chopra-Amiel-Gordon syndrome', 'Retinal dystrophy and obesity', 'Mental retardation, X-linked 92', 'Episodic ataxia, type 7', 'Amelogenesis imperfecta, type III', '46XY gonadal dysgenesis with minifascicular neuropathy', 'Oculopalatocerebral syndrome', 'Lethal congenital contracture syndrome 4', 'Delayed puberty, self-limited', 'Neurodegeneration with brain iron accumulation 2B', 'Prolactin deficiency, isolated', 'Lethal congenital contracture syndrome 3', 'Polydactyly, postaxial, type A1', 'Lateral meningocele syndrome', 'Microcephaly 12, primary, autosomal recessive', 'Leukoencephalopathy with vanishing white matter', 'Muscular dystrophy, congenital, with infantile cataract and hypogonadism', 'Pulmonary hypertension, primary, 3', 'Spastic paraplegia 7, autosomal recessive', 'Lissencephaly 8', 'Leptin deficiency or dysfunction', 'STAR syndrome', 'Holoprosencephaly 2', 'Focal segmental glomerulosclerosis 7', 'Neuropathy, hereditary motor and sensory, Russe type', 'Ehlers-Danlos syndrome, classic-like', 'Spinocerebellar ataxia 6', 'Ceroid lipofuscinosis, neuronal, 2', 'Fibromatosis, gingival, 1', 'Cahmr syndrome', 'Ophthalmoplegia, progressive, with scrotal tongue and mental deficiency', 'Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies', 'Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures', 'Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3', 'Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant', 'Ectodermal dysplasia-syndactyly syndrome 1', 'Myopathy, myofibrillar, 9, with early respiratory failure', 'Paragangliomas 1', 'Hypoparathyroidism, X-linked', 'Pituitary adenoma 5, multiple types', 'Curved nail of fourth toe', 'Camptosynpolydactyly, complex', 'Ichthyosis-Cheek-Eyebrow syndrome', 'Spondyloarthropathy, susceptibility to, 1', 'Immunodeficiency 106, susceptibility to viral infections', 'Retinitis pigmentosa 9', 'Chromosome 5q12 deletion syndrome', 'Radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillarydiastema', 'Focal segmental glomerulosclerosis 8', 'Nephrotic syndrome, type 18', 'Mental retardation, autosomal dominant 10', 'Febrile seizures, familial, 11', 'Neurofibromatosis, type III, mixed central and peripheral', 'Asthma, nasal polyps, and aspirin intolerance', 'Spinocerebellar ataxia 14', 'Alopecia-Mental retardation syndrome 1', 'Senior-Loken syndrome 7', 'Alopecia-Mental retardation syndrome 3', 'Ear exostoses', 'Cerebellar ataxia and neurosensory deafness', 'Vestibulopathy, familial', 'Chromosome 8q22.1 duplication syndrome', 'Nystagmus, hereditary vertical', 'Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome', 'Mental retardation, autosomal recessive 25', 'Intellectual developmental disorder, autosomal recessive 50', 'Polymicrogyria, bilateral perisylvian', 'Paroxysmal nonkinesigenic dyskinesia 2', 'Inclusion body myopathy and brain white matter abnormalities', 'Polydactyly, preaxial II', 'Spastic paraplegia 5A, autosomal recessive', 'Polycystic kidney disease, infantile severe, with tuberous sclerosis', 'Mental retardation, X-linked 97', 'Convulsive disorder, familial, with prenatal or early onset', 'Microcephalic osteodysplastic primordial dwarfism, type III', 'Intellectual developmental disorder with dysmorphic facies and ptosis', 'Nemaline myopathy 4', 'Ceroid lipofuscinosis, neuronal, 6B (Kufs type)', 'Tremor, hereditary essential, 2', 'Polydactyly, postaxial, type A7', 'Asphyxiating thoracic dystrophy 3', 'Dystonia 35, childhood-onset', 'Charcot-Marie-Tooth disease, axonal, type 2R', 'Retinitis pigmentosa 51', 'Mental retardation, X-linked 91', 'Metaphyseal chondrodysplasia, Schmid type', 'Chudley-Mccullough syndrome', 'Multiple synostoses syndrome 4', 'Joubert syndrome 2', 'Pulmonary venoocclusive disease 2', 'Periventricular nodular heterotopia 8', 'Episodic pain syndrome, familial, 3', 'Migraine, familial hemiplegic, 1', 'Giacheti syndrome', 'Cortisone reductase deficiency 1', 'Retinitis pigmentosa 86', 'Retinitis pigmentosa 31', 'Spinal muscular atrophy, Ryukyuan type', 'Night blindness, congenital stationary, type 1D', 'Suprabulbar paresis, congenital', 'Encephalopathy due to defective mitochondrial and peroxisomal fission 2', 'Papillon-Lefevre syndrome', 'Arthrogryposis, distal, type 11', 'Deafness, autosomal recessive 79', 'Aural atresia, congenital', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10', 'Myasthenic syndrome, congenital, with tubular aggregates 1', 'Chromosome 22q11.2 duplication syndrome', 'Alzheimer disease 3', 'Agenesis of the corpus callosum with peripheral neuropathy', 'Contractures, pterygia, and variable skeletal fusions syndrome 1B', 'Pontocerebellar hypoplasia, type 3', 'Spastic paraplegia 28, autosomal recessive', 'Brachydactyly-Nystagmus-Cerebellar ataxia', 'Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7', 'Atonic-Astatic syndrome of foerster', 'Nephrotic syndrome, type 23', 'Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive', 'Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements', 'Ohdo syndrome', 'Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2', 'Seizures, early-onset, with neurodegeneration and brain calcification', 'Coffin-Siris syndrome 12', 'Rolandic epilepsy, mental retardation, and speech dyspraxia', 'Myasthenia, limb-girdle, familial', 'Trigonocephaly 2', 'Parkinson disease 11', 'Corneal dystrophy, posterior polymorphous, 3', 'Epilepsy, idiopathic generalized', 'Myasthenic syndrome, congenital, 14', 'Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy', 'Muscular hypertonia, lethal', 'Stromme syndrome', 'Coffin-Siris syndrome 11', 'Aniridia', 'Red skin pigment anomaly of new guinea', 'Osteogenesis imperfecta, type XIX', 'Cone-rod dystrophy and hearing loss 2', 'Ciliary dyskinesia, primary, 40', 'Meesmann corneal dystrophy 2', 'ALACRIMA', 'Seckel syndrome 1', 'Polymyoclonus, infantile', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13', 'Poland syndrome', 'Facial paresis, hereditary congenital, 2', 'Preaxial deficiency, postaxial polydactyly, and hypospadias', 'Epileptic encephalopathy, early infantile, 72', 'Agnathia-Otocephaly complex', 'Tatton-Brown-Rahman syndrome', 'Acrokeratoderma, hereditary papulotranslucent', 'Orbital margin, hypoplasia of', 'Wolfram-Like syndrome, autosomal dominant', 'Glycosylphosphatidylinositol biosynthesis defect 16', 'Charcot-Marie-Tooth disease, dominant intermediate F', 'Ciliary dyskinesia, primary, 48, without situs inversus', 'Bor-Duane hydrocephalus contiguous gene syndrome', 'Phelan-Mcdermid syndrome', 'Spondylometaphyseal dysplasia, Kozlowski type', 'Dystonia 17, torsion, autosomal recessive', 'Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A', 'Kleine-Levin hibernation syndrome', 'Familial adenomatous polyposis 3', 'Alpha-Thalassemia/mental retardation syndrome, X-linked', 'Mental retardation, autosomal dominant 4', 'Peripheral motor neuropathy, childhood-onset, biotin-responsive', 'Andersen cardiodysrhythmic periodic paralysis', 'Hydrolethalus syndrome 2', 'Tooth agenesis, selective, 10', 'Lambotte syndrome', 'Amelogenesis imperfecta, hypomaturation type, iia2', 'Episodic kinesigenic dyskinesia 2', 'Mucus inspissation of respiratory tract', 'Holzgreve syndrome', '3MC syndrome 1', 'Van den bosch syndrome', 'Spondyloepimetaphyseal dysplasia, Irapa type', 'Coloboma of macula with type B brachydactyly', 'Developmental delay with variable intellectual impairment and behavioral abnormalities', 'Myopathy, myosin storage, autosomal dominant', 'Epilepsy, nocturnal frontal lobe, 2', 'Epilepsy, idiopathic generalized, susceptibility to, 12', 'Cerebral palsy, spastic quadriplegic, 3', 'Amelogenesis imperfecta, type IV', 'Colorectal cancer', 'Encephalitis/encephalopathy, mild, with reversible myelin vacuolization', 'Hypotrichosis-lymphedema-telangiectasia syndrome', 'Mental retardation, autosomal recessive 51', 'Amyotrophy, hereditary neuralgic', 'Amelogenesis imperfecta, type IIIC', 'Haim-Munk syndrome', 'Meckel syndrome, type 9', 'Hydrolethalus syndrome 1', 'Chromosome 17q11.2 deletion syndrome, 1.4-mb', 'Ophthalmoplegia, external, with rib and vertebral anomalies', 'Cervical hypertrichosis with underlying kyphoscoliosis', 'Parkinson disease 5, susceptibility to', 'Tremor, hereditary essential, 6', 'Xeroderma pigmentosum, complementation group E', 'Glioma susceptibility 1', 'Chromosome 2q31.1 duplication syndrome', 'Specific language impairment 5', 'Nail disorder, nonsyndromic congenital, 6', 'Seizures, cortical blindness, and microcephaly syndrome', 'Congenital cataracts, facial dysmorphism, and neuropathy', 'Developmental and epileptic encephalopathy 18', 'Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection', 'Speech-language disorder-1', 'Dementia, lewy body', 'Pruritus, hereditary localized', 'Atresia of external auditory canal and conduction deafness', 'Short-Rib thoracic dysplasia 16 with or without polydactyly', 'Myasthenic syndrome, congenital, 23, presynaptic', 'Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis', 'You-Hoover-Fong syndrome', 'Mitochondrial complex I deficiency, nuclear type 21', 'Usher syndrome, type IG', 'Microcephaly 25, primary, autosomal recessive', 'Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate', 'Syndactyly, type V', 'Erythrokeratodermia veriabilis et progressiva 6', 'Charcot-Marie-Tooth disease, dominant intermediate C', 'Short-Rib thoracic dysplasia 14 with polydactyly', 'Short-Rib thoracic dysplasia 19 with or without polydactyly', 'Townes-Brocks syndrome 1', 'Cataract-Ataxia-Deafness-Retardation syndrome', 'Neuropathy, hereditary sensory, type ID', 'Neuromuscular disease and ocular or auditory anomalies with or without seizures', 'Coffin-siris syndrome 6', 'Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay', 'Retinitis pigmentosa 74', 'Neural tube defects, susceptibility to', 'Brachydactyly, preaxial, with hallux varus and thumb abduction', 'Mitochondrial complex IV deficiency, nuclear type 17', 'Actinic prurigo', 'Ovarian dysgenesis 7', 'Mosaic variegated aneuploidy syndrome 3', 'Arthrogryposis, distal, type 2B3', 'Spasticity, childhood-onset, with hyperglycinemia', 'Lactate dehydrogenase B deficiency', 'Arthrogryposis, distal, type 2E', 'Synostoses, tarsal, carpal, and digital', 'Lethal congenital contracture syndrome 6', 'Aniridia and absent patella', 'Peroxisome biogenesis disorder 9B', 'Ceroid lipofuscinosis, neuronal, 8', 'Seborrhea-Like dermatitis with psoriasiform elements', 'Renal cell carcinoma, papillary, 1, familial and somatic', 'Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency', 'BETA-THALASSEMIA', 'ALPHA-THALASSEMIA', 'Granulomatosis with polyangiitis', 'Epilepsy, familial temporal lobe, 6', 'Keratosis follicularis, dwarfism, and cerebral atrophy', 'Mental retardation, autosomal recessive 52', 'Radioulnar synostosis, unilateral, with developmental retardationand hypotonia', 'Mucoepithelial dysplasia, hereditary', 'Erythrokeratodermia variabilis et progressiva 4', 'Urocanase deficiency', 'Striatal degeneration, autosomal dominant 2', 'Jaberi-Elahi syndrome', 'Retinitis pigmentosa 76', 'Friedreich ataxia, so-called, with optic atrophy and sensorineuraldeafness', 'TRACHEOBRONCHOMEGALY', 'Autism, susceptibility to, 20', 'Oculodentodigital dysplasia, autosomal recessive', 'Brown-Vialetto-Van laere syndrome 2', 'Brachydactyly, type B1', 'Blepharophimosis with facial and genital anomalies and mental retardation', 'Epilepsy, idiopathic generalized, 10', 'Otosclerosis 3', 'Melanoma, cutaneous malignant, susceptibility to, 10', 'Bladder cancer', 'Mental retardation, autosomal recessive 47', 'Spastic paraplegia and psychomotor retardation with or without seizures', 'Deafness, autosomal recessive 1A', 'Macular degeneration, age-related, 4', 'Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency', 'Alzheimer disease 9, susceptibility to', 'Baker-Gordon syndrome', 'Orofaciodigital syndrome IV', 'Anauxetic dysplasia 2', 'Brooke-Spiegler syndrome', 'Noduli cutanei, multiple, with urinary tract abnormalities', 'Nasal bones, absence of', 'Iris pigment layer, cleavage of', 'Galloway-Mowat syndrome 10', 'Vestibulocochlear dysfunction, progressive', 'Ackerman syndrome', 'Fibrosis of extraocular muscles, congenital, 5', 'Steatocystoma multiplex with natal teeth', 'Leber congenital amaurosis 11', 'Fleck retina, familial benign', 'Anonychia with flexural pigmentation', 'Corneal dystrophy, Fuchs endothelial, 4', 'Retinitis pigmentosa 48', 'Doyne honeycomb retinal dystrophy', 'Usher syndrome, type ID', 'Cataract, autosomal dominant, multiple types 1', 'Microphthalmia, isolated, with corectopia', 'Deafness, autosomal dominant nonsyndromic sensorineural 2', 'Auditory neuropathy, autosomal dominant 3', 'Deafness, autosomal dominant nonsyndromic sensorineural 11', 'Nail disorder, nonsyndromic congenital, 7', 'Deafness, autosomal dominant 36', 'Deafness, autosomal recessive 29', 'Ichthyosis, lamellar, autosomal dominant', 'Deafness, autosomal recessive 74', 'Deafness, autosomal recessive 12', 'Duane retraction syndrome 2', 'Deafness, autosomal recessive 110', 'Deafness, autosomal dominant 81', 'Deafness, autosomal dominant 71', 'Deafness, autosomal dominant 74', 'Retinitis pigmentosa 85', 'Leber congenital amaurosis 12', 'Pachyonychia congenita 4', 'Cataract 19, multiple types', 'Cataract 7', 'Deafness, autosomal dominant 51', 'Deafness, autosomal dominant 89', 'Microphthalmia with coloboma 3', 'Stargardt disease 4', 'Aniridia, microcornea, and spontaneously reabsorbed cataract', 'Cataract 44', 'Glucocorticoid deficiency 5', 'Deafness, autosomal dominant nonsyndromic sensorineural 49', 'Deafness, mid-tone neural', 'Disordered steroidogenesis due to cytochrome P450 oxidoreductase', 'Hypogonadism, primary, and partial alopecia', 'Myopia 17', 'Corneal dystrophy, fuchs endothelial, 8', 'Aplasia cutis congenita, high myopia, and cone-rod dysfunction', 'Hydatidiform mole, recurrent, 3', 'Myopia 25, autosomal dominant', 'Retinal dystrophy, reticular pigmentary, of posterior pole', 'Premature ovarian failure 12', 'Hydatidiform mole, recurrent, 1', 'Thyroid hormone resistance, selective pituitary', 'Spermatogenic failure 12', 'Frontonasal dysplasia with alar clefts', 'Cataract, congenital total, with posterior sutural opacities in heterozygotes', 'Macular dystrophy, concentric annular', 'Ankyloblepharon filiforme adnatum and cleft palate', 'Usher syndrome, type IC', 'Perrault syndrome 2', 'Keratosis palmoplantaris striata II', 'Palmoplantar keratoderma, epidermolytic, 2', 'Deafness, autosomal recessive 84B', 'Deafness, autosomal recessive 89', 'Occult macular dystrophy', 'Cataract, congenital, Volkmann type', 'Corneal dystrophy, lattice type I', 'Hypotrichosis 10', 'Pupillary membrane, persistence of', 'Cataract 23', 'Thyroid cancer, nonmedullary, 1', 'Deafness, autosomal dominant 73', 'Deafness, autosomal recessive 8/10', 'Deafness, neurosensory, autosomal recessive 42', 'Deafness, autosomal dominant 66', 'Senior-Loken syndrome 5', 'Deafness-Oligodontia syndrome', 'Dyschromatosis universalis hereditaria 3', 'Stargardt disease 1', 'Advanced sleep phase syndrome, familial, 2', 'Choroidal dystrophy, central areolar 1', 'Cryptorchidism, unilateral or bilateral', 'Deafness, autosomal recessive 108', 'Deafness, autosomal dominant 6', 'Deafness, autosomal dominant 20', 'Rhabdoid tumor predisposition syndrome 2', 'Tooth agenesis, selective, 9', 'Myofibromatosis, infantile, 1', 'Cleft palate, X-linked', 'Mayer-Rokitansky-Kuster-Hauser syndrome', 'Cataract 31, multiple types', 'Nephronophthisis 9', 'Nephronophthisis 7', 'Oocyte/zygote/embryo maturation arrest 20', 'Oocyte/zygote/embryo maturation arrest 17', 'Premature ovarian failure 3', 'Orofacial cleft 1', 'Testes, rudimentary', 'Spermatogenic failure 36', 'Dental noneruption', 'CODAS syndrome', 'Keratoconus 1', 'Book syndrome', 'Nephrotic syndrome, type 13', 'Oocyte maturation defect 9', 'Cataract, autosomal recessive congenital 2', 'Vas deferens, congenital bilateral aplasia of', 'Spermatogenic failure 61', 'Spermatogenic failure 62', 'Spermatogenic failure 44', 'Spermatogenic failure 6', 'Oocyte maturation defect 13', 'Spermatogenic failure 8', 'Spermatogenic failure 52', 'Spermatogenic failure 23', 'Spermatogenic failure, Y-linked, 2', 'Spermatogenic failure 4', 'Spermatogenic failure 55', 'Spermatogenic failure, Y-linked, 1', 'Spermatogenic failure 3', 'Spermatogenic failure 67', 'Spermatogenic failure 69', 'Spermatogenic failure 26', 'Spermatogenic failure 9', 'Spermatogenic failure 66', 'Breast-Ovarian cancer, familial, susceptibility to, 2', 'Deafness, autosomal dominant 70', 'Deafness, autosomal recessive 111', 'Oocyte maturation defect', 'Oocyte maturation defect 5', 'Oocyte/zygote/embryo maturation arrest 14', 'Oocyte maturation defect 4', 'Tooth agenesis, selective, 4', 'Epilepsy, familial temporal lobe, 2', 'Parietal foramina', 'Brachydactyly, coloboma, and anterior segment dysgenesis', 'Pseudohermaphroditism, female, with skeletal anomalies', 'Spastic paraparesis and deafness', 'Mirror movements 1 and/or agenesis of the corpus callosum', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2', 'Intellectual developmental disorder, autosomal dominant 64', 'Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis', 'Developmental and epileptic encephalopathy 104', 'Adrenal hypoplasia, congenital', 'Premature ovarian failure 1', 'Symphalangism, distal', 'Ceroid lipofuscinosis, neuronal, 3', 'Periodontitis, aggressive, 1', 'Craniotelencephalic dysplasia', 'Microangiopathy and leukoencephalopathy, pontine, autosomal dominant', 'Epileptic encephalopathy, early infantile, 83', 'Dyggve-Melchior-Clausen disease', 'Fryns microphthalmia syndrome', 'Spinocerebellar degeneration with macular corneal dystrophy, congenitalcataracts, and myopia', 'Myasthenic syndrome, congenital, 6, presynaptic', 'Spondyloepimetaphyseal dysplasia, Aggrecan type', 'Brachydactyly, type A4', 'Corneal dystrophy of bowman layer, type II', 'Ovarian dysgenesis 5', 'Ocular motor apraxia', 'Multiple synostoses syndrome 2', 'Minicore myopathy with external ophthalmoplegia', '46,XX sex reversal 5', 'Dystonia 21', 'Neurodevelopmental disorder with hypotonia and gross motor and seech delay', 'Leri-Weill dyschondrosteosis', 'Craniotubular dysplasia, Ikegawa type', 'Intellectual developmental disorder, autosomal dominant 22', 'Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1', 'Stankiewicz-Isidor syndrome', 'Thanatophoric dysplasia, type II', 'Parkinson disease 21', 'Deafness, autosomal recessive 70', 'Chordoma, susceptibility to', 'Neurofibromatosis, type I', 'Keratoderma, palmoplantar, norrbotten Recessive type', 'Epilepsy, nocturnal frontal lobe, type 1', 'Postaxial oligodactyly, tetramelic', 'Pontocerebellar hypoplasia, type 10', 'Kohlschutter-Tonz syndrome-like', 'Spastic ataxia 1, autosomal dominant', 'Microcephaly 14, primary, autosomal recessive', 'Deafness, congenital, with total albinism', 'TELECANTHUS', 'Microphthalmia, isolated 2', 'Intellectual developmental disorder 62', 'Generalized epilepsy with febrile seizures plus, type 1', 'Chorea, childhood-onset, with psychomotor retardation', 'Short stature, developmental delay, and congenital heart defects', 'Deafness, autosomal recessive 84', 'Usher syndrome, type IJ', 'Usher syndrome, type IK', 'Mental retardation, autosomal dominant 36', 'Muscular dystrophy, limb-girdle, type 2H', 'Amelogenesis imperfecta, type IF', 'Retinitis pigmentosa 83', 'Amelogenesis imperfecta, type IH', 'Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis', 'Boomerang dysplasia', 'Renal hypodysplasia/aplasia 1', 'Supranuclear palsy, progressive atypical', 'Endove syndrome, Limb-Only type', 'Neuronopathy, distal hereditary motor, type IIA', 'Obsessive-Compulsive disorder 1', 'Omodysplasia 2', 'Dupuytren contracture 1', 'Atelosteogenesis, type I', 'Keratoconus posticus circumscriptus', 'External auditory canal, bilateral atresia of, with congenital verticaltalus', 'Dentinogenesis imperfecta, shields type III', 'Gastrointestinal defects and immunodeficiency syndrome 2', 'Leber hereditary optic neuropathy, autosomal recessive', 'Li-Campeau syndrome', 'Thyroid hormone metabolism, abnormal', 'Premature ovarian failure 11', 'Premature ovarian failure 16', 'Dentin dysplasia, type II', 'Crouzon syndrome with acanthosis nigricans', 'Midface hypoplasia, obesity, developmental delay, and neonatal hypotonia', 'Mental retardation, X-linked 12/35', 'Galloway-Mowat syndrome 9', 'Spinocerebellar ataxia, autosomal recessive 3', 'Apnea, obstructive sleep', 'Aniridia, partial, with unilateral renal agenesis and psychomotorretardation', 'Febrile seizures, familial, 6', 'Febrile seizures, familial, 2', 'Febrile seizures, familial, 1', 'Familial idiopathic steroid-resistant nephrotic syndrome', 'Retinitis pigmentosa with or without skeletal anomalies', 'Facial paresis, hereditary congenital, 1', 'Spinal muscular atrophy, type III', 'Mitochondrial complex I deficiency, nuclear type 27', 'Perry syndrome', 'Mental retardation, X-linked 14', 'Dyssegmental dysplasia, Rolland-Desbuquois type', 'Focal segmental glomerulosclerosis 10', 'Charcot-marie-tooth disease, axonal, type 2A2A', 'Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive', 'Meckel syndrome 13', 'Joubert syndrome 23', 'Splenogonadal fusion with limb defects and micrognathia', 'Mandibulofacial dysostosis, Guion-Almeida type', 'Spastic paraplegia 41, autosomal dominant', 'Perrault syndrome 3', 'Mirror movements 2', 'Retinitis pigmentosa 39', 'Leber congenital amaurosis 19', 'Retinitis pigmentosa 61', 'Retinitis pigmentosa 26', 'Chromosome 17q23.1-q23.2 deletion syndrome', 'Chromosome 1q21.1 deletion syndrome, 1.35-mb', 'Retinitis pigmentosa 36', 'Desmoid disease, hereditary', 'Neurodevelopmental disorder with cerebellar hypoplasia and spasticity', 'Cerebrocostomandibular syndrome', 'Microcephaly 9, primary, autosomal recessive', 'Griscelli syndrome, type 3', 'Ataxia with myoclonic epilepsy and presenile dementia', 'Usher syndrome, type IE', 'Multiple synostoses syndrome 3', 'Epileptic encephalopathy, early infantile, 41', 'Intellectual developmental disorder, autosomal dominant 48', 'Mucopolysaccharidosis type IX', 'Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure', 'Hyperprolinemia, type I', 'Ehlers-Danlos syndrome, musculocontractural type 1', 'Dyskinesia with orofacial involvement, autosomal recessive', 'Restless legs syndrome, susceptibility to, 1', 'Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy', 'Spinocerebellar ataxia 32', 'Myopathy, centronuclear, 2', 'Developmental and epileptic encephalopathy 103', 'Carpal tunnel syndrome 2', 'Seizures, benign familial infantile, 2', 'Helsmoortel-van der Aa syndrome', 'Alport syndrome 2, autosomal recessive', 'Deafness, autosomal recessive 18B', 'Band heterotopia', 'Spastic paraplegia 74, autosomal recessive', 'Charcot-Marie-Tooth disease, type 4B2', 'Parkinsonism-dystonia 3, childhood-onset', 'Joubert syndrome 25', 'Tremor, hereditary essential, 1', 'Aldosteronism, glucocorticoid-remediable', 'Ulnar hypoplasia with mental retardation', 'Developmental and epileptic encephalopathy 110', 'Epidermolysis bullosa with diaphragmatic hernia', 'Orofaciodigital syndrome X', 'Frias syndrome', 'Joubert syndrome 17', 'Spinocerebellar ataxia, autosomal recessive 32', 'Blepharonasofacial malformation syndrome', 'Seizures, benign familial infantile, 5', 'Dystonia 1, torsion, autosomal dominant', 'Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language', 'Cleft palate, deafness, and oligodontia', 'Fibrosis of extraocular muscles, congenital, 3B', 'Neurodevelopmental disorder with hypotonia and brain abnormalities', 'Kury-Isidor syndrome', 'Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia', 'Parietal foramina 2', 'Myopathy, tubular aggregate, 1', 'Congenital hypotonia, epilepsy, developmental delay, and digital anomalies', 'Epiphyseal dysplasia, multiple, 2', 'Chromosome 10q26 deletion syndrome', 'Kniest dysplasia', 'Hartsfield syndrome', 'Myotubular myopathy with abnormal genital development', 'Achromatopsia 4', 'Bullous dystrophy, hereditary Macular type', 'Glaucoma 3, primary congenital, D', 'Albinism, oculocutaneous, type V', 'Pierre Robin sequence with pectus excavatum and rib and scapular anomalies', 'Schizophrenia 15', 'Fryns syndrome', 'Microcephaly 3, primary, autosomal recessive', 'Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities', 'Neuropathy, hereditary sensory and autonomic, type VIII', 'Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)', 'Ovarian dysgenesis 3', 'Young syndrome', 'Atelosteogenesis, type III', 'Ciliary dyskinesia, primary, 39', 'Amelogenesis imperfecta, type IC', 'Cortical dysplasia, complex, with other brain malformations 4', 'Epilepsy, juvenile absence', 'Congenital contractures of the limbs and face, hypotonia, and developmental delay', 'Intellectual developmental disorder, autosomal recessive 14', 'Complement factor I deficiency', 'Mitochondrial complex V (atp synthase) deficiency, nuclear type 4', '3-methylglutaconic aciduria, type III', 'Hydrocephalus, congenital, 3, with brain anomalies', 'Respiratory papillomatosis, juvenile recurrent, congenital', 'Ferguson-Bonni neurodevelopmental syndrome', 'Amelogenesis imperfecta, type IJ', 'Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures', 'Laurin-Sandrow syndrome', 'Cerebellar atrophy, developmental delay, and seizures', 'Fetal akinesia deformation sequence', 'Schizophrenia', 'Spastic paraplegia 31, autosomal dominant', 'Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6', 'Arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum', 'Deafness, autosomal recessive 9', 'Spinocerebellar ataxia, autosomal recessive 26', 'Bardet-Biedl syndrome 21', 'Epilepsy, hot water, 1', 'Intellectual developmental disorder 61', 'Syndactyly, mesoaxial synostotic, with phalangeal reduction', 'Corneal dystrophy, Reis-Bucklers type', 'Charcot-Marie-Tooth disease, recessive intermediate A', 'Lethal congenital contracture syndrome 11', 'Candidiasis, familial, 9', 'Spastic quadriplegia, retinitis pigmentosa, and mental retardation', 'Spastic paraplegia 14, autosomal recessive', 'Pellagra-Like syndrome', 'Klippel-Feil syndrome, autosomal recessive', 'Spinocerebellar ataxia, autosomal recessive 33', 'Generalized epilepsy with febrile seizures plus, type 7', 'Piebald trait with neurologic defects', 'Myopathy, centronuclear, autosomal dominant', 'Kleefstra syndrome 2', 'Psoriasis 2', 'Chilblain lupus 2', 'Ichthyosis, congenital, autosomal recessive 7', 'Humeroradial synostosishumeroradial/multiple synostosis syndrome', 'Gyrate atrophy of choroid and retina with or without ornithinemia', 'Weiss-Kruszka syndrome', 'Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation', 'Arthrogryposis, congenital, lower limb, X-linked', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7', 'Heart and brain malformation syndrome', 'Microcephaly, short stature, and limb abnormalities', 'Sifrim-Hitz-Weiss syndrome', 'Al Kaissi syndrome', 'Acromegaloid facial appearance syndrome', 'Charcot-Marie-Tooth disease, type 4D', 'Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation', 'Narcolepsy 3', 'Spinocerebellar ataxia, autosomal recessive 31', 'Ichthyosis, congenital, autosomal recessive 14', 'Behr syndrome', 'Ichthyosis, congenital, autosomal recessive 8', 'Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia', 'Macular degeneration, age-related, 1', 'Premature ovarian failure 20', 'Premature ovarian failure 14', 'Myopathy, congenital, with tremor', 'Neuropathy, congenital hypomyelinating, 3', 'Charcot-Marie-Tooth disease, axonal, type 2A2B', 'Generalized epilepsy with febrile seizures plus, type 10', 'Neuropathy, hereditary, with liability to pressure palsies', 'Usher syndrome, type 1M', 'Humerofemoral hypoplasia with radiotibial ray deficiency', 'Pachygyria, frontotemporal', 'Aase-Smith syndrome I', 'Tylosis with esophageal cancer', 'Osteopathia striata with cranial sclerosis', 'Split-Hand/foot malformation with long bone deficiency 1', 'Rubinstein-Taybi syndrome 2', 'Acrocapitofemoral dysplasia', 'Immunodeficiency 31A', 'Orofaciodigital syndrome V', 'Choreoathetosis, familial inverted', 'Pontocerebellar hypoplasia, type 16', 'Joubert syndrome 16', 'Leukodystrophy and acquired microcephaly with or without dystonia', 'Frasier syndrome', 'Aicardi-Goutieres syndrome 8', 'Nemaline myopathy 9', 'Myoclonic epilepsy, juvenile, susceptibility to, 1', 'Rhizomelic limb shortening with dysmorphic features', 'Cleft palate, isolated', 'Ciliary dyskinesia, primary, 37', 'Atelosteogenesis, type II', 'Spastic paraplegia 39, autosomal recessive', 'Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension', 'Epilepsy, familial focal, with variable foci', 'Spinocerebellar ataxia 41', 'Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive', 'Branchial myoclonus with spastic paraparesis and cerebellar ataxia', 'Charcot-Marie-Tooth disease, axonal, type 2S', 'Ehlers-Danlos syndrome, classic type, 2', 'Nephrotic syndrome, type 20', 'Dyskinesia, familial, with facial myokymia', 'Fibular hypoplasia and complex brachydactyly', 'Meniere disease', 'Ichthyosis, spastic quadriplegia, and mental retardation', 'Chorea, remitting, with nystagmus and cataract', 'Tooth malformation', 'Intellectual developmental disorder, autosomal dominant 67', 'Ovarian cancer', 'Hypoparathyroidism, sensorineural deafness, and renal dysplasia', 'Retinitis pigmentosa 90', 'Lung cancer, susceptibility to', 'Retinitis pigmentosa 77', 'Thyroid cancer, nonmedullary, 2', 'Horner syndrome, congenital', 'Intellectual developmental disorder, autosomal recessive 54', 'Ophthalmomandibulomelic dysplasia', 'Epilepsy, progressive myoclonic 1B', 'Arthrogryposis, distal, type 2B2', 'Spinal muscular atrophy, distal, autosomal recessive, 3', 'Clark-Baraitser syndrome', 'Neurodevelopmental disorder with involuntary movements', 'Levator-Medial rectus synkinesis', 'Multiple self-healing squamous epithelioma', 'Cleft larynx, posteriorstridor, congenital, included', 'Spastic paraplegia 64, autosomal recessive', 'Charge-Like syndrome, X-linked', 'Ciliary dyskinesia, primary, 6', 'Deafness, autosomal recessive 35', 'Sebaceous gland hyperplasia, familial presenile', 'Microphthalmia, isolated, with coloboma 4', 'Microphthalmia, isolated 1', 'Ophthalmoplegia, familial static', 'Cryptophthalmos, unilateral or bilateral, isolated', 'Oculomotor-abducens synkinesis', 'Keratosis palmoplantaris striata III', 'Intellectual developmental disorder, autosomal dominant, FRA12A type', 'Retinitis pigmentosa 63', 'Myopia 23, autosomal recessive', 'Reticular dystrophy of retinal pigment epithelium', 'Retinitis pigmentosa 35', 'Cavitary optic disc anomalies', 'Bothnia retinal dystrophy', 'Blepharoptosis, myopia, and ectopia lentis', 'Deafness, autosomal dominant 4B', 'Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included', 'Deafness, autosomal recessive 101', 'TRITANOPIA', 'Ichthyosis hystrix gravior', 'Retinopathy, pericentral pigmentary, autosomal recessive', 'Epidermolysis bullosa, junctional 2A, intermediate', 'Spastic paraplegia, optic atrophy, and dementia', 'Deafness, autosomal dominant 50', 'Mammary-Digital-Nail syndrome', 'Glaucoma-Related pigment dispersion syndrome', 'Cataract, posterior polar, 1 ctpa cataract, congenital total, included', 'Branchiootic syndrome 2', 'Renal, genital, and middle ear anomalies', 'Deafness, autosomal dominant 77', 'Erythrokeratodermia variabilis et progressiva 7', 'Epidermolysis bullosa dystrophica neurotrophica', 'CHANDS', 'Sveinsson chorioretinal atrophy', 'Odontomicronychial dysplasia', 'Glaucoma 1, open angle, F', 'Deafness, neurosensory, autosomal recessive 2', 'Hemifacial hyperplasia with strabismus', 'Auditory neuropathy, autosomal dominant 2', 'Deafness, autosomal dominant 72', 'Porokeratosis 3, multiple types', 'Deafness, autosomal recessive 103', 'Deafness, autosomal dominant 87', 'Deafness, autosomal dominant 41', 'Glaucoma 1, open angle, P', 'Woolly hair, hypotrichosis, everted lower lip, and outstanding ears', 'Deafness, autosomal dominant 65', 'Deafness, autosomal recessive 118, with cochlear aplasia', 'Deafness, autosomal dominant 56', 'Deafness, neurosensory, autosomal recessive 7', 'Focal facial dermal dysplasia 1, Brauer type', 'Myopia 28, autosomal recessive', 'Dilution, pigmentary', 'Corneal endothelial dystrophy, autosomal recessive', '46,xy sex reversal 8', 'Keratoconus 9', 'Rutherfurd syndrome', 'Microphthalmia, isolated 3', 'Reticulate acropigmentation of Kitamura', 'Porokeratosis 8, disseminated superficial Actinic type', 'Peeling skin syndrome 5', 'Uncombable hair syndrome 1', 'Uncombable hair syndrome 2', 'LARYNGOMALACIA', 'Ectopia lentis, familial', 'Deafness and myopia', 'Palmoplantar keratoderma, nonepidermolytic, focal or diffuse', 'Microphthalmia, isolated, with coloboma 7', 'Deafness, autosomal dominant 23', 'Melanoma, cutaneous malignant, susceptibility to, 3', 'Ectodermal dysplasia 5, Hair/nail type', 'Porokeratosis 1, multiple types', 'Epidermolysis bullosa simplex 2C, localized', 'Extraoral halitosis due to MTO deficiency', 'Ciliary dyskinesia, primary, 44', 'Premature ovarian failure 19', 'Porokeratosis 9, multiple types', 'Cataract 3, multiple types', 'Cataract, multiple types', 'Dowling-Degos disease 2', 'Spermatogenic failure 11', 'Cataract 15, multiple types', 'Glaucoma 3, primary congenital, A', 'Deafness, autosomal dominant 83', 'Spermatogenic failure 71', 'Spermatogenic failure 32', 'Cataract 30, multiple types', 'Spermatogenic failure 50', 'Nephrotic syndrome, type 21', 'Episodic kinesigenic dyskinesia 3', 'Spermatogenic failure 73', 'Spermatogenic failure 74', 'Spermatogenic failure 60', 'Spermatogenic failure 59', 'Spermatogenic failure 1', 'Vas deferens, congenital bilateral aplasia of, X-linked', 'Spermatogenic failure 22', 'Spermatogenic failure 21', 'Spermatogenic failure 16', 'Male infertility with large-headed, multiflagellar, polyploid spermatozoa', 'Spermatogenic failure 29', 'Cowden-Like syndrome', 'Deafness, autosomal recessive 76', 'Bainbridge-Ropers syndrome', 'Keratosis, focal palmoplantar and gingival', 'Wilms tumor 6', 'Joubert syndrome 40', 'Synpolydactyly 1', 'Nabais Sa-de Vries syndrome, type 1', 'Amelogenesis imperfecta, type IIA5', 'Spastic paraplegia 20, autosomal recessive', 'Membranous cranial ossification, delayed', 'Spondyloepiphyseal dysplasia tarda with characteristic facies', 'Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure', 'Parkinson disease 24, autosomal dominant, susceptibility to', 'Mental retardation, autosomal dominant 42', 'Chiari malformation type I', 'Paragangliomas 2', 'Chromosome 3q29 duplication syndrome', 'Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis', 'Mental retardation, X-linked 41', 'Supranuclear palsy, progressive, 2', 'Amelogenesis imperfecta, type IA', 'Epilepsy, familial temporal lobe, 4', 'Developmental delay with short stature, dysmorphic facial features, and sparse hair 2', 'Epilepsy, progressive myoclonic 3, with or without intracellular inclusions', 'Leopard syndrome 2', 'Spinocerebellar ataxia 45', 'Myasthenic syndrome, congenital, 15', 'Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations', 'Ichthyosis with alopecia, eclabion, ectropion, and mental retardation', 'Neutropenia, severe congenital, X-linked', 'Thyroid hormonogenesis, genetic defect in, 3', 'Sweeney-Cox syndrome', 'Aromatase deficiency', 'Arthrogryposis, distal, type 10', 'Deafness, autosomal recessive 119', 'Kleefstra syndrome', 'Acne inversa, familial, 2, with or without dowling-degos disease', 'Microcephaly, seizures, and developmental delay', 'Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4', 'Chromosome 17p13.3, telomeric, duplication syndrome', 'Rhizomelic chondrodysplasia punctata, type 5', 'Oculogastrointestinal neurodevelopmental syndrome', 'Charcot-Marie-Tooth disease, type 4B3', 'Dystonia 16', 'Cerebral palsy, ataxic, autosomal recessive', 'Optic atrophy, hearing loss, and peripheral neuropathy, autosomaldominant', 'Charcot-Marie-Tooth disease, axonal, type 2B2', 'Epilepsy, childhood absence, susceptibility to, 1', 'Colorectal cancer, hereditary nonpolyposis, type 8', 'Ciliary dyskinesia, primary, 41', 'Hypogonadism-Cataract syndrome', 'Febrile seizures, familial, 5', 'Febrile seizures, familial, 4', 'Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies', 'Spermatogenic failure 75', 'Retinal dystrophy with or without macular staphyloma', 'Charcot-Marie-Tooth disease, axonal, type 2U', 'Dyssegmental dysplasia, Silverman-Handmaker type', 'Intellectual developmental disorder, autosomal dominant 63, with macrocephaly', 'Schizophrenia 1', 'Retinitis pigmentosa 54', 'Retinitis pigmentosa 20', 'Retinitis pigmentosa 33', 'Retinitis pigmentosa 30', 'Retinitis pigmentosa 49', 'Retinitis pigmentosa 81', 'Retinitis pigmentosa 40', 'Optic atrophy with negative electroretinograms', 'Acromesomelic dysplasia, Maroteaux type', 'Schuurs-Hoeijmakers syndrome', 'Dystonia 12', 'Parkinsonism-Dystonia, infantile, 2', 'Palmoplantar carcinoma, multiple self-healing', 'Kahrizi syndrome', 'Spinocerebellar ataxia 38', 'Seizures, benign familial neonatal, 1', 'Split-Hand with congenital nystagmus, fundal changes, and cataracts', 'Intellectual developmental disorder with short stature and behavioral abnormalities', 'Spastic paraplegia 24, autosomal recessive', 'Mast syndrome', 'Hyperekplexia 4', 'Ectodermal dysplasia-syndactyly syndrome 2', 'Shaheen syndrome', 'Cornelia de Lange syndrome 4', 'Schizophrenia 10', 'Spastic paraplegia 42, autosomal dominant', 'Intellectual developmental disorder, autosomal recessive 69', 'Epilepsy idiopathic generalized, susceptibility to, 8', 'Multiple endocrine neoplasia, type IV', 'Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant', 'Tukel syndrome', 'Pontocerebellar hypoplasia, type 8', 'Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities', 'Acheiropody', 'Schizophrenia 19', 'Fourth cranial nerve palsy, familial congenital', 'Neurodevelopmental disorder with visual defects and brain anomalies', 'Griscelli syndrome, type 1', 'Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis', 'Xeroderma pigmentosum, variant type', 'Microphthalmia, syndromic 6', 'Dystonia 13, torsion', 'Hypogonadotropic hypogonadism 14 with or without anosmia', 'Imagawa-Matsumoto syndrome', 'Developmental and epileptic encephalopathy 65', 'Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy', 'Intellectual developmental disorder, autosomal recessive 3', 'Parkinson disease 18', 'Noonan syndrome 13', 'Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities', 'Cortical malformations, occipital', 'Cortical dysplasia, complex, with other brain malformations 2', 'Intellectual disability-hypotonic facies syndrome, X-linked', 'Seckel syndrome 7', 'Neurodevelopmental disorder with microcephaly, hypotonia, and absent language', 'Basal ganglia calcification, idiopathic, 7, autosomal recessive', 'Global developmental delay with or without impaired intellectual development', 'Hyperostosis cranialis interna', 'Neuronopathy, distal hereditary motor, type IX', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8', 'Retinitis pigmentosa 17', 'Developmental delay, intellectual disability, obesity, and dysmorphic features', 'Cone-Rod dystrophy 17', 'Cone dystrophy 3', 'Parc syndrome', 'Alopecia-Contractures-Dwarfism mental retardation syndrome', 'Microphthalmia/coloboma and skeletal dysplasia syndrome', 'Neurodevelopmental disorder with cerebellar atrophy and with or without seizures', 'Amelogenesis imperfecta, hypomaturation type, iia1', 'Tibial muscular dystrophy, tardive', 'Neuropathy, hereditary sensory, type IE', 'Skeletal defects, genital hypoplasia, and mental retardation', 'Developmental and epileptic encephalopathy 91', 'Spinocerebellar ataxia 42', 'Glycine encephalopathy', 'Deafness, conductive, with ptosis and skeletal anomalies', 'C1q deficiency 3', 'Neurodevelopmental disorder and language delay with or without structural brain abnormalities', 'Weill-Marchesani syndrome 4', 'Arthrogryposis, mental retardation, and seizures', 'Cerebral sclerosis, diffuse, Scholz type', 'Chromosome 17Q12 duplication syndrome', 'Retinitis pigmentosa 14', 'Microphthalmia, isolated, with coloboma 6', 'Neurooculorenal syndrome', 'Episodic kinesigenic dyskinesia 1', 'Spastic paraplegia 63, autosomal recessive', 'Epidermolysis bullosa, junctional, with pyloric atresia', 'Encephalopathy, familial, with neuroserpin inclusion bodies', 'Cleft palate, proliferative retinopathy, and developmental delay', 'Cone-rod dystrophy 15', 'WAGRO syndrome', 'Mental retardation, autosomal dominant 39', 'Leber congenital amaurosis 6', 'Charcot-Marie-Tooth disease, demyelinating, type 1D', 'Bardet-Biedl syndrome 16', 'Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation', 'Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly', 'Spastic paraplegia 33, autosomal dominant', 'Spinocerebellar ataxia 7', 'Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies', 'Ciliary dyskinesia, primary, 18', 'Erythrokeratodermia variabilis et progressiva 3', 'Tetraamelia syndrome 2', 'Spinocerebellar ataxia, autosomal recessive 27', 'Seizures, benign familial infantile, 1', 'Mental retardation, X-linked, syndromic, Bain type', 'Usher syndrome, type IF', 'Macular degeneration, age-related, 13', '46,xy sex reversal 4', 'Huntington disease', 'Arboleda-Tham syndrome', 'Neurooculocardiogenitourinary syndrome', 'Ichthyosis, congenital, autosomal recessive 13', 'Brachymorphism-Onychodysplasia-Dysphalangism syndrome', 'Epiphyseal dysplasia, multiple, with myopia and conductive deafness', 'Charcot-Marie-Tooth disease, axonal, type 2B', 'Premature ovarian failure 9', 'Hartnup disorder', 'Ciliary dyskinesia, primary, 45', 'Mental retardation syndrome, Mietens-Weber type', 'Spastic paraplegia, sensorineural deafness, mental retardation, and', 'Systemic lupus erythematosus 16', 'Microphthalmia, syndromic 11', 'Multiple mitochondrial dysfunctions syndrome 4', 'Facial clefting, oblique, 1', 'Brachydactyly, type A1', 'Polydactyly, postaxial, type A6', 'Luscan-Lumish syndrome', 'Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5', 'Hypertelorism, microtia, facial clefting syndrome', 'Cardioacrofacial dysplasia 1', 'Cortical dysplasia, complex, with other brain malformations 5', 'Ritscher-Schinzel syndrome 3', 'Rett syndrome', 'Pterygia, mental retardation, and distinctive craniofacial features', 'Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome', 'Papillorenal syndrome', 'Epidermolysis bullosa, junctional 6, with pyloric atresia', 'Temtamy syndrome', 'Spondyloepiphyseal dysplasia congenita', 'Epileptic encephalopathy, early infantile, 71', 'Intellectual developmental disorder, autosomal dominant 23', 'Spinocerebellar ataxia 46', 'Spastic paraplegia 89, autosomal recessive', 'Poirier-Bienvenu neurodevelopmental syndrome', 'Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome', 'CDAGS syndrome', 'Axenfeld-rieger syndrome, type 2', 'Spondylometaepiphyseal dysplasia, short Limb-Hand type', 'Epilepsy, familial adult myoclonic, 5', 'Omodysplasia 1', 'Jackson-Weiss syndrome', 'Treacher Collins syndrome 3', 'Spinocerebellar ataxia with rigidity and peripheral neuropathy', 'Craniosynostosis 2', 'Chromosome 11P13 deletion syndrome, distal', 'Acromesomelic dysplasia, Hunter-Thompson type', 'Rippling muscle disease 1', 'Klippel-Feil syndrome 1, autosomal dominant', 'Mental retardation, microcephaly, growth retardation, joint contractures,and facial dysmorphism', 'Weyers acrofacial dysostosis', 'Absent eyebrows and eyelashes with mental retardation', 'Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development', 'Charcot-marie-tooth disease, recessive intermediate B', 'Holoprosencephaly 4', 'Congenital disorder of glycosylation, type Iw, autosomal dominant', 'Trichothiodystrophy 2, photosensitive', 'Kyphomelic dysplasia', 'Spinocerebellar ataxia, autosomal recessive 12', 'Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity', 'Pontocerebellar hypoplasia, type 12', 'Huriez syndrome', 'Trichodental dysplasia', 'Parkinson disease 17', 'Solitary median maxillary central incisor', 'Charcot-Marie-Tooth disease, dominant intermediate G', 'Joubert syndrome 31', 'Iridogoniodysgenesis, type 2', 'Ophthalmoplegia totalis with ptosis and miosis', 'Microphthalmia with hyperopia, retinal degeneration, macrophakia,and dental anomalies', 'Waardenburg syndrome, type IIB', 'Hypermanganesemia with dystonia 2', 'Ophthalmoplegia, familial total, with iris transillumination', 'Newfoundland rod-cone dystrophy', 'Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development', 'Intellectual developmental disorder with or without epilepsy or cerebellar ataxia', 'Duane retraction syndrome 3 with or without deafness', 'Cone-Rod dystrophy 8', 'Stickler sydrome, type I, nonsyndromic ocular', 'Usher syndrome, type IID', 'Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive', 'Cone-rod dystrophy 7', 'Tooth agenesis, selective, 8', 'Hypertelorism, preauricular sinus, punctal pits, and deafness', 'Retinitis pigmentosa 28', 'Night blindness, congenital stationary, type 1G', 'Corneal dystrophy, lattice type IIIA', 'Macular dystrophy, retinal, 3', 'Stargardt disease 3', 'Senior-Loken syndrome 6', 'Microphthalmia, isolated, with cataract 1', 'Bestrophinopathy, autosomal recessive', 'Corneal dystrophy, Avellino type', 'Deafness, autosomal dominant 86', 'Epidermolysis bullosa, junctional 3A, intermediate', 'Branchiootorenal syndrome 2', 'Pterygium colli, isolated', 'Dowling-Degos disease 4', 'Glaucoma, primary closed-angle', 'Bart-Pumphrey syndrome', 'Albinism, oculocutaneous, type III', 'Pachyonychia congenita, type 1', 'Groenouw type I corneal dystrophy', 'Retinitis pigmentosa 96, autosomal dominant', 'Deafness, autosomal recessive 37', 'Anterior segment dysgenesis 6, multiple subtypes', 'Retinal dystrophy and iris coloboma with or without congenital cataract', 'Ovarian dysgenesis 6', 'Deafness, autosomal dominant 64', 'Deafness, autosomal dominant 33', 'Retinitis pigmentosa inversa with deafness', 'Ectodermal dysplasia 6, Hair/nail type', 'Cataract 49', 'Hypotrichosis 11', 'Epidermolysis bullosa simplex, Weber-Cockayne type', 'Hypogonadism, malehypogonadism and testicular atrophy, included', 'Macular dystrophy, patterned, 3', 'Night blindness, congenital stationary, autosomal dominant 1', 'Uncombable hair syndrome 3', 'Trichothiodystrophy 7, nonphotosensitive', 'Palmoplantar keratoderma, punctate type IA', 'Cataract, lamellar', 'Hypothyroidism, congenital, nongoitrous, 1', 'Myopia 5', 'Thyroid hormonogenesis, genetic defect in, 2A', 'Cataract, congenital zonular, with sutural opacities', 'Deafness, autosomal recessive 4, with enlarged vestibular aqueduct', 'Deafness, autosomal recessive 32, with or without immotile sperm', 'Thyroid cancer, nonmedullary, 4', 'Retinitis pigmentosa 87 with choroidal involvement', 'Cataract 1, multiple types', 'Aplasia of lacrimal and salivary glands', 'Lower urinary tract obstruction, congenital', 'Deafness, autosomal dominant 84', 'Basal laminar drusen', 'Nephrotic syndrome, type 26', 'Deafness, autosomal dominant 80', 'Cataract 20, multiple types', 'Spermatogenic failure 10', 'Adrenal hypoplasia, congenital, with absent pituitary luteinizinghormone', 'Spermatogenic failure 81', 'Spermatogenic failure 47', 'Spermatogenic failure 41', 'Spermatogenic failure 45', 'Spermatogenic failure 43', 'Spermatogenic failure 78', 'Spermatogenic failure 48', 'Spermatogenic failure 70', 'Spermatogenic failure 64', 'Spermatogenic failure 79', 'Oocyte maturation defect 10', 'Spermatogenic failure 7', 'Spermatogenic failure 86', 'Spermatogenic failure 57', 'Spermatogenic failure 63', 'Spermatogenic failure 83', 'Spermatogenic failure 20', 'Focal segmental glomerulosclerosis 9', 'Spermatogenic failure 24', 'Jawad syndrome', 'Intellectual developmental disorder, autosomal recessive 78', 'Neurofibromatosis, familial spinal', 'Myasthenic syndrome, congenital, 8', 'Microcephalic primordial dwarfism, Montreal type', 'Robin sequence with cleft mandible and limb anomalies', 'Cortical dysplasia, complex, with other brain malformations 11', 'Spermatogenic failure, X-linked, 4', 'Febrile seizures, familial, 8', 'Premature ovarian failure 2B', 'Leukoencephalopathy, diffuse hereditary, with spheroids', 'Thumb, hypoplastic, with choroid coloboma, poorly developed antihelix,and deafness', 'Spinocerebellar ataxia 18', 'Gilles de la tourette syndrome', 'Parkinson disease 1, autosomal dominant', 'Spinal muscular atrophy, infantile, James type', 'Intellectual developmental disorder, autosomal dominant 69', 'Sabinas brittle hair syndrome', 'Deafness, conductive, with malformed external ear', 'Heimler syndrome 2', 'Short stature, optic nerve atrophy, and pelger-huet anomaly', 'Intellectual developmental disorder, autosomal recessive 63', 'Brachydactyly, type A2', 'Glycine encephalopathy with normal serum glycine', 'Histidinuria due to A renal tubular defect', 'Spongiform encephalopathy with neuropsychiatric features', 'Retinitis pigmentosa-50', 'Van bogaert-hozay syndrome', 'Retinopathy, pericentral pigmentary, dominant', 'Retinitis pigmentosa 46', 'Pick disease of brain', 'Pallister-Hall-like syndrome', 'Ulnar-Mammary syndrome', 'Intellectual developmental disorder, autosomal recessive 46', 'Mental retardation, autosomal dominant 31', '46,xy sex reversal 9', 'Candidiasis, familial, 8', 'Zaki syndrome', 'CEBALID syndrome', 'Spinocerebellar ataxia 4', 'Premature ovarian failure 15', 'Premature ovarian failure 13', 'Mental retardation syndrome, X-linked, Armfield type', 'Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures', 'Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities', 'Gabriele-De vries syndrome', 'Ciliary dyskinesia, primary, 17', 'Epileptic encephalopathy, early infantile, 63', 'Earlobes, thickened, with conductive deafness from incudostapedialabnormalities', 'Bosch-Boonstra-Schaaf optic atrophy syndrome', 'Nephropathy due to CFHR5 deficiency', 'Spastic paraplegia 8, autosomal dominant', 'Neurodevelopmental disorder with microcephaly, short stature, and speech delay', 'Cortical dysplasia, complex, with other brain malformations 6', 'Pseudotrisomy 13 syndrome', 'Optic atrophy 2', 'Symphalangism, distal, with microdontia, dental pulp stones, and narrowedzygomatic arch', 'Vitreoretinochoroidopathy', 'Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities', 'Generalized epilepsy with febrile seizures plus, type 4', 'Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3', 'Phosphoribosylpyrophosphate synthetase superactivity', 'Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties', 'Piebald trait', 'Chromosome 1p35 deletion syndrome', 'Episodic ataxia, type 8', 'Microphthalmia, syndromic 3', 'Mental retardation with optic atrophy, deafness, and seizures', 'Catel-Manzke syndrome', 'Arthrogryposis and ectodermal dysplasia', 'Spinocerebellar ataxia 30', 'Intellectual developmental disorder, autosomal dominant 56', 'Xeroderma pigmentosum, complementation group B', 'Ataxia, sensory, autosomal dominant', 'Stickler syndrome, type III', 'Symphalangism, proximal, 1A', 'Periventricular nodular heterotopia 6', 'Larsen syndrome', 'Cerebellar ataxia, Cayman type', 'Baller-Gerold syndrome', 'Epileptic encephalopathy, early infantile, 45', 'Intellectual developmental disorder with autism and speech delay', 'Dystonia, early-onset, and/or spastic paraplegia', 'Basel-Vanagaite-Smirin-Yosef syndrome', 'Dystonia 25', 'Mental retardation, X-linked 107', 'Ovarian dysgenesis 10', 'Joubert syndrome 20', 'Axenfeld-Rieger syndrome, type 3', 'Alkuraya-Kucinskas syndrome', 'Microcephaly, primary autosomal recessive, 6', 'Vertebral, cardiac, tracheoesophageal, renal, and limb defects', 'Pierre Robin sequence with facial and digital anomalies', 'Hypogonadotropic hypogonadism 5 with or without anosmia', 'Ovarian dysgenesis 9', 'Apert syndrome', 'Joubert syndrome 1', 'Spinocerebellar ataxia 19', 'Hypogonadotropic hypogonadism 13 with or without anosmia', 'Cornelia de Lange syndrome 5', 'Neurodevelopmental disorder with microcephaly and gray sclerae', 'Intellectual developmental disorder, autosomal recessive 2', 'Radial ray hypoplasia with choanal atresia', 'Neuronopathy, distal hereditary motor, type IIB', 'Intellectual developmental disorder, autosomal recessive 65', 'Martsolf syndrome 1', 'Opticocochleodentate degeneration', 'Acid-labile subunit, deficiency of', 'Charcot-Marie-Tooth disease, axonal, type 2W', 'Craniosynostosis 3', 'Chromosome 15q13.3 microdeletion syndrome', 'Microcephaly 7, primary, autosomal recessive', 'Retinitis pigmentosa 11', 'Trigonocephaly 1', 'Renal and mullerian duct hypoplasia', 'Microcephaly 5, primary, autosomal recessive', 'Bradyopsia 2', 'Amaurosis congenita, cone-rod type, with congenital hypertrichosis', 'Cone-rod dystrophy 21', 'Optic atrophy 6', 'Lissencephaly, X-linked, 1', 'Charcot-Marie-Tooth disease, axonal, type 2N', 'Optic atrophy 12', 'Meesmann corneal dystrophy 1', 'Alacrima, congenital', 'Neuropathy, congenital hypomyelinating, 2', 'Fetal akinesia syndrome, X-linked', 'Orofaciodigital syndrome XVI', 'Holoprosencephaly 14', 'Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure', 'Keratoendotheliitis fugax hereditaria', 'Intellectual developmental disorder, autosomal recessive 37', 'Joubert syndrome 36', 'Seizures, benign familial infantile, 3', 'Even-Plus syndrome', 'Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter', 'Neurodevelopmental disorder with infantile epileptic spasms', 'Spinocerebellar ataxia 31', 'Baralle-Macken syndrome', 'Alacrima, achalasia, and mental retardation syndrome', 'Cone-Rod dystrophy 10', 'Deafness, autosomal recessive 104', 'Coenzyme Q10 deficiency, primary, 6', 'Adams-Oliver syndrome 3', 'Coffin-Siris syndrome 2', 'Hypogonadotropic hypogonadism 6 with or without anosmia', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1', 'Charcot-Marie-Tooth disease, demyelinating, type 1G', 'Keratosis pilaris atrophicans', 'Auditory neuropathy, autosomal dominant, 1', 'Ichthyosis, annular epidermolytic 2', 'Myasthenic syndrome, congenital, 2A, slow-channel', 'Hypotrichosis 6', 'Spinal muscular atrophy, distal, autosomal recessive, 6', 'Epilepsy, familial temporal lobe, 8', 'Xeroderma pigmentosum, group C', 'Chorea, benign hereditary', 'Limb-Mammary syndrome', 'Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement', 'Syringomyelia, isolated', 'Acrofacial dysostosis, Catania type', 'Craniosynostosis 6', 'Spastic paraplegia, optic atrophy, and neuropathy', 'Craniosynostosis-Mental retardation-clefting syndrome', 'Spastic paraplegia 27, autosomal recessive', 'Mitochondrial complex III deficiency, nuclear type 2', 'Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant', 'Optic atrophy 16', 'Intellectual developmental disorder, autosomal recessive 77', 'Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech', 'Achalasia-Addisonianism-Alacrima syndrome', 'Encephalopathy, progressive, with amyotrophy and optic atrophy', 'Developmental delay with dysmorphic facies and dental anomalies', 'Spastic paraplegia 88, autosomal dominant', 'Bare lymphocyte syndrome, type I', 'Epileptic encephalopathy, early infantile, 3', 'Focal segmental glomerulosclerosis and neurodevelopmental syndrome', 'Spinocerebellar ataxia, autosomal recessive 8', 'Genitopatellar syndrome', 'Pontocerebellar hypoplasia, type 1F', 'Ciliary dyskinesia, primary, 29', 'Basal ganglia calcification, idiopathic, 1', 'Premature ovarian failure 17', 'Spermatogenic failure 28', 'Branchiooculofacial syndrome', 'Nephronophthisis 20', 'Otospondylomegaepiphyseal dysplasia', 'Leukodystrophy, hypomyelinating, 25', 'Dystonia 7, torsion', 'Peeling skin syndrome 6', 'Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome', 'Retinitis pigmentosa, deafness, mental retardation, and hypogonadism', 'Spastic paraplegia 11, autosomal recessive', 'Epidermolysis bullosa simplex with pyloric atresia', 'Warsaw breakage syndrome', 'Spastic paraplegia 56, autosomal recessive', 'Ciliary dyskinesia with defective radial spokes', 'Optic nerve hypoplasia', 'Burn-Mckeown syndrome', 'Structural brain anomalies with impaired intellectual development and craniosynostosis', 'Glass syndrome', 'Hypogonadotropic hypogonadism 10 with or without anosmia', 'Cardiofaciocutaneous syndrome 2', 'Congenital disorder of deglycosylation 2', 'Intellectual developmental disorder, autosomal dominant 6, with or without seizures', 'Ciliary dyskinesia, primary, 47, and lissencephaly', 'Coloboma of macula and skeletal anomalies', 'Myasthenic syndrome, congenital, 13, with tubular aggregates', 'Birdshot chorioretinopathy', 'Pulmonary alveolar microlithiasis', 'Xq25 duplication syndrome', 'Global developmental delay with speech and behavioral abnormalities', 'Microcephaly and chorioretinopathy, autosomal recessive, 3', 'Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type', 'Joubert syndrome 22', 'Parkinson disease 20, early-onset', 'Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome', 'Nemaline myopathy 5, Amish type', 'Charcot-Marie-Tooth disease, axonal, type 2Q', 'Spastic paraplegia 73, autosomal dominant', 'Ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliarydyskinesia', 'Macular degeneration, age-related, 3', 'Usmani-Riazuddin syndrome, autosomal recessive', 'Intellectual developmental disorder, autosomal dominant 13', 'Spastic paraplegia 62, autosomal recessive', 'Pontocerebellar hypoplasia, type 2D', 'Coloboma, ocular', 'Brunet-Wagner neurodevelopmental syndrome', 'Ciliary dyskinesia, primary, 3, with or without situs inversus', 'Chondrodysplasia with joint dislocations, Gpapp type', 'Epileptic encephalopathy, early infantile, 7', 'Ciliary dyskinesia, primary, 50', 'Acromesomelic dysplasia 2A', 'Bardet-Biedl syndrome 17', 'Neuropathy, congenital, with arthrogryposis multiplex', 'Epileptic encephalopathy, early infantile, 79', 'Melanoma, cutaneous malignant', 'Albinism-Deafness syndrome', 'Developmental and epileptic encephalopathy 12', 'Facial paresis, hereditary congenital, 3', 'Intellectual developmental disorder, autosomal dominant 53', 'Visual impairment and progressive phthisis bulbi', 'Developmental and epileptic encephalopathy 106', 'Microcoria, congenital', 'Aniridia 3', 'Cataract 42', 'Sorsby fundus dystrophy', 'Nizon-Isidor syndrome', 'Dystonia 9', 'Hypotrichosis 3', 'DERMOODONTODYSPLASIA', 'Night blindness, congenital stationary, type 1E', 'Surfactant metabolism dysfunction, pulmonary, 5', 'Chorioretinal atrophy, progressive bifocal', 'Macular dystrophy, vitelliform, 2', 'Ring dermoid of cornea', 'Nystagmus 2, congenital, autosomal dominant', 'Retinitis pigmentosa 47', 'Anterior segment dysgenesis 1', 'Retinitis pigmentosa 45', 'Macular dystrophy, vitelliform, 1', 'Hypomyelination with brainstem and spinal cord involvement and legspasticity', 'Leber congenital amaurosis-3 (LCA3)/Retinitis pigmentosa, juvenile, autosomal recessive', 'Nanophthalmos 4', 'Microtia with meatal atresia and conductive deafness', 'Palmoplantar keratoderma, nonepidermolytic, focal 1', 'Otosclerosis 7', 'Macular dystrophy, retinal, 4', 'Basaloid follicular hamartoma syndrome, generalized, autosomal dominant', 'Corneal dystrophy, posterior amorphous', 'Vohwinkel syndrome', 'Hypotrichosis, congenital, with juvenile macular dystrophy', 'Exudative vitreoretinopathy 3', 'Nystagmus 1, congenital, X-linked', 'Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1', 'Renal hypodysplasia/aplasia 2', 'Macular dystrophy, retinal, 1, north Carolina type', 'Snowflake vitreoretinal degeneration', 'Woolly hair, autosomal recessive 3', 'Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart', 'Corneal endothelial dystrophy and perceptive deafness', 'Deafness, autosomal dominant 82', 'Microphthalmia, isolated, with coloboma 10', 'Hypotrichosis 14', 'Mitochondrial complex I deficiency, nuclear type 12', 'Vohwinkel syndrome, variant form', 'Renal dysplasia, cystic, susceptibility to', 'Macular dystrophy, vitelliform, 4', 'Branchiootic syndrome 3', 'Menke-Hennekam syndrome 2', 'Xeroderma pigmentosum, complementation group D', 'Alopecia universalis congenita', 'van der Woude syndrome 1', 'Premature ovarian failure 5', 'Spermatogenic failure 30', 'Nephrotic syndrome, type 24', 'Spermatogenic failure 40', 'Spermatogenic failure, X-linked, 7', 'Spermatogenic failure 49', 'Spermatogenic failure 19', 'Spermatogenic failure 82', 'Spermatogenic failure 85', 'Spermatogenic failure 35', 'Spermatogenic failure 25', 'Cardioacrofacial dysplasia 2', 'Linear skin defects with multiple congenital anomalies 3', 'Segawa syndrome, autosomal recessive', 'Retinitis pigmentosa 75', 'Retinitis pigmentosa 84', 'Retinitis pigmentosa 95', 'Cone-Rod dystrophy 1', 'Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome', 'Rudiger syndrome', 'Intellectual developmental disorder with speech delay, autism, and dysmorphic facies', 'Hair defect with photosensitivity and mental retardation', 'Intellectual developmental disorder, autosomal recessive 13', 'Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies', 'Chromosome 15q11.2 deletion syndrome', 'Dentin dysplasia, type I, with microdontia and misshapen teeth', 'Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly', 'Neu-Laxova syndrome 1', 'Intellectual developmental disorder, autosomal dominant 40', 'Spinocerebellar ataxia, autosomal recessive 6', 'Epilepsy, juvenile myoclonic, susceptibility to, 10', 'Leukodystrophy, hypomyelinating, 5', 'Chromosome 19p13.13 deletion syndrome', 'Ciliary dyskinesia, primary, 13', 'Myopathy, congenital, with fiber-type disproportion, X-linked', 'Epileptic encephalopathy, early infantile, 34', 'Moebius syndrome', 'Spinocerebellar ataxia 36', 'Premature ovarian failure 21', 'Short stature, oligodontia, dysmorphic facies, and motor delay', 'Otoonychoperoneal syndrome', 'Charcot-Marie-Tooth disease and deafness', 'Retinitis pigmentosa 80', 'Bifid nose with or without anorectal and renal anomalies', 'Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1', 'Myoclonic-atonic epilepsy', 'Siddiqi syndrome', 'Epilepsy, nocturnal frontal lobe, 5', 'Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis', 'Alternating hemiplegia of childhood 1', 'Developmental delay and seizures with or without movement abnormalities', 'Nephrosis with deafness and urinary tract and digital malformations', 'Epilepsy, progressive myoclonic 7', 'Retinitis pigmentosa 13', 'Myopathy, congenital, progressive, with scoliosis', 'Narcolepsy 1', 'Spastic paraplegia 61, autosomal recessive', 'Epileptic encephalopathy, early infantile, 54', 'Mitochondrial complex IV deficiency, nuclear type 8', 'Macrocephaly/megalencephaly syndrome, autosomal recessive', 'Hepatocellular carcinoma', 'Retinitis pigmentosa 27', 'Macdermot-Winter syndrome', 'Usher syndrome, type IIIB', 'Short-Rib thoracic dysplasia 13 with or without polydactyly', 'Dystonia 27', 'Desbuquois dysplasia 2', 'Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism', 'Erythrokeratodermia variabilis et progressiva 5', 'Desanto-Shinawi syndrome', 'Postaxial acrofacial dysostosis', 'Lissencephaly 5', 'Cowden syndrome 1', 'Spinocerebellar ataxia, autosomal recessive 7', 'Spinal muscular atrophy, X-linked 2', 'Supranuclear palsy, progressive, 1', 'Spinocerebellar ataxia, autosomal recessive 24', 'Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures', 'Ehlers-Danlos syndrome, musculocontractural type, 2', 'Acromicric dysplasia', 'Witteveen-Kolk syndrome', 'Spinocerebellar ataxia 35', 'Spermatogenic failure 14', 'Developmental delay, impaired speech, and behavioral abnormalities', 'Robinow syndrome, autosomal dominant 3', 'Brachydactyly, type A1, D', 'Microphthalmia, syndromic 13', 'Cortical dysplasia, complex, with other brain malformations 1', 'Retinal dystrophy, juvenile cataracts, and short stature syndrome', 'Alopecia, neurologic defects, and endocrinopathy syndrome', 'Ceroid lipofuscinosis, neuronal, 10', 'Spastic paraplegia 84, autosomal recessive', 'Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism', 'Gaze palsy, familial horizontal, with progressive scoliosis, 2', 'Convulsions, familial infantile, with paroxysmal choreoathetosis', 'Tremor, hereditary essential, 5', 'Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy', 'Oligodontia-colorectal cancer syndrome', 'Epilepsy, progressive myoclonic, 11', 'NESCAV syndrome', 'Corneal dystrophy, gelatinous drop-like', 'Retinitis pigmentosa 32', 'Retinitis pigmentosa 25', 'Spastic paraplegia 77, autosomal recessive', 'Intellectual developmental disorder, autosomal recessive 74', 'Migraine, familial hemiplegic, 3', 'Cone-Rod synaptic disorder, congenital nonprogressive', 'Cone-rod dystrophy 13', 'Albinism, oculocutaneous, type IB', 'Retinal cone dystrophy 1', 'Albinism, oculocutaneous, type VI', 'Night blindness, congenital stationary, type 1H', 'Retinal cone dystrophy 4', 'Cone-Rod dystrophy 11', 'Ectodermal dysplasia with mental retardation and syndactyly', 'Epithelial recurrent erosion dystrophy', 'Craniofacial microsomia 2', 'Spastic paraplegia 53, autosomal recessive', 'Neuropathy, hereditary sensory and autonomic, type IA', 'Crouzon syndrome', 'Immunoglobulin A deficiency 2', 'Craniofacial abnormalities, cataracts, congenital heart disease, sacralneural tube defects, and growth and developmental retardation', 'Epilepsy, idiopathic generalized, susceptibility to, 14', 'Intellectual developmental disorder with short stature, facial anomalies, and speech defects', 'Kindler syndrome', 'Ovarian dysgenesis 2', 'Osteogenesis imperfecta, type XX', 'Heimler syndrome 1', 'Striatal degeneration, autosomal dominant', 'Intellectual developmental disorder, autosomal recessive 6', 'Brittle cornea syndrome', 'Epileptic encephalopathy, early infantile, 11', 'Spinocerebellar ataxia 27B, late-onset', 'Microcephaly 4, primary, autosomal recessive', 'Epilepsy, progressive myoclonic, 9', 'Hypogonadotropic hypogonadism 24 without anosmia', 'Epidermolysis bullosa simplex, autosomal recessive 2', 'De Sanctis-Cacchione syndrome', 'Baraitser-Winter syndrome 2', 'Optic atrophy 3, autosomal dominant', 'Sclerosteosis 1', 'Ichthyosis, congenital, autosomal recessive 10', 'Mental retardation, autosomal recessive 66', 'Ciliary dyskinesia, primary, 46', 'Steel syndrome', 'Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8', 'Stickler syndrome, type I', 'Spastic ataxia 7, autosomal dominant', 'Stickler syndrome, type V', 'Anencephaly 2', 'Leukoencephalopathy, hereditary diffuse, with spheroids 2', 'Premature ovarian failure 10', 'Premature ovarian failure 8', 'Developmental delay with short stature, dysmorphic features, and sparse hair', 'Culler-Jones syndrome', 'Craniometaphyseal dysplasia, autosomal recessive', 'Hypogonadotropic hypogonadism 25 with anosmia', 'Wernicke-Korsakoff syndrome', 'Nephropathy with pretibial epidermolysis bullosa and deafness', 'Spinocerebellar ataxia, autosomal recessive 28', 'Macrocephaly, dysmorphic facies, and psychomotor retardation', 'Joubert syndrome 15', 'Parkinson disease 23, autosomal recessive early-onset', 'Intellectual developmental disorder with cardiac defects and dysmorphic facies', 'Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development', 'Joubert syndrome 27', 'Mandibulofacial dysostosis with ptosis, autosomal dominant', 'Ichthyosis, follicular, with atrichia and photophobia syndrome 2', 'Generalized epilepsy with febrile seizures plus, type 2', 'Hypertryptophanemia', 'Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure', 'Muir-Torre syndrome', 'Familial adenomatous polyposis 4', 'Ataxia-telangiectasia-like disorder 1', 'Manitoba oculotrichoanal syndrome', 'Chromosome 13q14 deletion syndrome', 'Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies', 'Acrocallosal syndrome', 'Spastic paraplegia 76, autosomal recessive', 'Cone-Rod dystrophy 16', 'Mental retardation, autosomal dominant 2', 'Pilarowski-Bjornsson syndrome', 'Dystonia 24', 'Arthrogryposis, distal, type 2B', 'Char syndrome', 'Hereditary motor and sensory neuropathy V', 'Chitayat syndrome', 'Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss', 'Focal facial dermal dysplasia 3, Setleis type', 'Deafness, dystonia, and cerebral hypomyelination', 'Mental retardation, X-linked, syndromic, Houge type', 'Epilepsy, nocturnal frontal lobe, 4', 'Neurodevelopmental disorder with impaired speech and hyperkinetic movements', 'Spondylocarpotarsal synostosis syndrome', 'Intellectual developmental disorder, autosomal dominant 58', 'Microcephaly, seizures, spasticity, and brain calcifications', 'Hypomagnesemia 5, renal, with or without ocular involvement', 'Mental retardation, X-linked 90', 'Congenital anomalies of kidney and urinary tract, susceptibility to', 'Robinow-Sorauf syndrome', 'Retinitis pigmentosa 19', 'Retinitis pigmentosa 43', 'Retinitis pigmentosa 70', 'Retinitis pigmentosa 62', 'Retinitis pigmentosa 58', 'Ellis-Van creveld syndrome', 'Craniosynostosis 4', 'Parkinson disease 8, autosomal dominant', 'Popliteal pterygium syndrome, Bartsocas-Papas type 2', 'Charcot-Marie-Tooth disease, demyelinating, type 1J', 'Meckel syndrome 12', 'Ectodermal dysplasia with adrenal cyst', 'Ciliary dyskinesia, primary, 23', 'Spinocerebellar ataxia 26', 'Hypotrichosis 13', 'Neuronopathy, distal hereditary motor, type VIIA', 'Night blindness, congenital stationary (complete), 1C, autosomal recessive', 'Leber congenital amaurosis 5', 'Duane retraction syndrome 1', 'Night blindness, congenital stationary, type 1B', 'Epidermolysis bullosa, junctional 3B, severe', 'Epidermolysis bullosa simplex with nail dystrophy', 'Exudative vitreoretinopathy 5', 'Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails', 'Blepharocheilodontic syndrome 1', 'Retinitis pigmentosa 68', 'Auditory neuropathy and optic atrophy', 'Albinism, oculocutaneous, type IV', 'Night blindness, congenital stationary, type 2A', 'Epidermolysis bullosa simplex 1B, generalized intermediate', 'Retinitis pigmentosa 92', 'Woolly hair-skin fragility syndrome', 'Microphthalmia, isolated 6', 'Nail disorder, nonsyndromic congenital, 1', 'Cataract 48', 'Ectopia lentis et pupillae', 'Exudative vitreoretinopathy 7', 'Epidermolysis bullosa, junctional 2B, severe', 'Renal hypodysplasia/aplasia 4', 'Hypogonadotropic hypogonadism 11 with or without anosmia', 'Bamforth-Lazarus syndrome', 'Macular dystrophy, retinal, 2', 'Retinitis pigmentosa 93', 'Aniridia 2', 'Marie unna hereditary hypotrichosis 1', 'Corneal dystrophy, epithelial basement membrane', 'Macular dystrophy, butterfly-shaped pigmentary, 2', 'Spinocerebellar ataxia, autosomal recessive 22', 'Perrault syndrome 6', 'Spermatogenic failure 15', 'Van der woude syndrome 2', 'Ophthalmoplegia, external, and myopia', 'Brachydactyly, type B2', 'Nephrotic syndrome, type 4', 'Deafness, autosomal dominant 21', 'Spermatogenic failure 42', 'Ciliary dyskinesia, primary, 21', 'Spermatogenic failure 80', 'Spermatogenic failure 76', 'Spermatogenic failure 58', 'Spermatogenic failure 18', 'Spermatogenic failure 33', 'Spermatogenic failure 46', 'Spermatogenic failure 37', 'Spermatogenic failure 27', 'Microphthalmia, syndromic 2', 'Hypotrichosis and recurrent skin vesicles', 'Vertebral hypersegmentation and orofacial anomalies', 'Myoclonus, familial cortical', 'Arthrogryposis multiplex congenita 6', 'Ceroid lipofuscinosis, neuronal, 11', 'Buratti-Harel syndrome', 'Keratoderma-ichthyosis-deafness syndrome, autosomal recessive', 'Lissencephaly 3', 'Spastic paraplegia 23', 'Microphthalmia, isolated, with coloboma 5', 'Ataxia, posterior column, with retinitis pigmentosa', 'Acrofacial dysostosis 1, Nager type', 'Ermine phenotype', 'Spinocerebellar ataxia, autosomal recessive 25', 'Acromesomelic dysplasia, Demirhan type', 'Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay', 'Spastic paraplegia 15, autosomal recessive', 'Neuropathy, hereditary motor, with myopathic features', 'Peroxisomal fatty acyl-CoA reductase 1 disorder', 'Amelogenesis imperfecta, type IG (enamel-renal syndrome)', 'Joubert syndrome 26', '46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs', 'Charcot-Marie-Tooth disease, axonal, type 2F', 'Myasthenic syndrome, congenital, 16', 'Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome', 'Epileptic encephalopathy, early infantile, 60', 'GM2-gangliosidosis, AB variant', 'Spastic paraplegia 9B, autosomal recessive', 'Leukoencephalopathy, cystic, without megalencephaly', 'Kohlschutter-Tonz syndrome', 'Phosphoribosylaminoimidazole carboxylase deficiency', 'Pontocerebellar hypoplasia, type 1E', 'Chromosome 15q11-q13 duplication syndrome', 'Spinal muscular atrophy, distal, autosomal recessive, 5', 'Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive', 'Epilepsy, familial adult myoclonic, 4', 'Neuronopathy, distal hereditary motor, type VB', 'Craniofacial-deafness-hand syndrome', 'Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly', 'Ciliary dyskinesia, primary, 24', 'Auriculocondylar syndrome 3', 'Creutzfeldt-Jakob disease', 'Anterior segment dysgenesis 3', 'Generalized epilepsy with febrile seizures plus, type 9', 'Gaze palsy, familial horizontal, with progressive scoliosis, 1', 'Retinitis pigmentosa 79', 'Polymicrogyria, bilateral temporooccipital', 'Mental retardation, X-linked, syndromic, 35', 'Epilepsy, progressive myoclonic, 12', 'Orofaciodigital syndrome XVIII', 'Ciliary dyskinesia, primary, 11', 'Orofaciodigital syndrome III', 'Branchiogenic-deafness syndrome', 'Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)', 'Arthrogryposis, distal, type 1A', 'Mental retardation, autosomal dominant 41', 'Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes', 'Neurodevelopmental disorder with seizures and brain atrophy', 'Basal ganglia calcification, idiopathic, 6', 'Spastic paraplegia 32, autosomal recessive', 'Epileptic encephalopathy, early infantile, 59', 'Leber congenital amaurosis 7', 'Albinism, ocular, with late-onset sensorineural deafness', 'Cone-Rod dystrophy 5', 'Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities', 'Albinism, oculocutaneous, type V', 'Albinism, ocular, type I', 'Charcot-Marie-Tooth disease, demyelinating, type 1H', 'Achromatopsia 7', 'SIMHA syndrome', 'Intellectual developmental disorder and retinitis pigmentosa', 'Spinal muscular atrophy, late-onset, Finkel type', 'Orofaciodigital syndrome I', 'Epilepsy, familial adult myoclonic, 1', 'Ciliary dyskinesia, primary, 2', 'Developmental and epileptic encephalopathy 70', 'Escobar syndrome', 'Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction', 'Ciliary dyskinesia, primary, 33', 'Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome', 'Microcephaly-micromelia syndrome', 'Mental retardation, autosomal recessive 58', 'Hyperphenylalaninemia, MILD, non-bh4-deficient', 'Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome', 'Lacrimoauriculodentodigital syndrome-2', 'Epidermolysis bullosa dystrophica, autosomal dominant', 'Warburg micro syndrome 4', 'Speech development, delayed, with facial asymmetry, strabismus, andtransverse earlobe crease', 'Basal cell nevus syndrome', 'Microphthalmia, syndromic 5', 'Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder', 'Ciliary dyskinesia, primary, 12', 'Mohr syndrome', 'Danon disease', 'Spinocerebellar ataxia 10', 'Muscle glycogenosis, X-linked', 'Premature ovarian failure 18', 'Mental retardation, autosomal recessive 57', 'Otofaciocervical syndrome 2', 'Joubert syndrome 38', 'Developmental and epileptic encephalopathy 69', 'Ciliary dyskinesia, primary, 27', 'Neurodevelopmental disorder with seizures and gingival overgrowth', 'Epilepsy, familial focal, with variable foci 4', 'Cortical dysplasia, complex, with other brain malformations 10', 'Myoclonic epilepsy, familial infantile', 'Charcot-marie-tooth disease, axonal, type 2O', 'Ectodermal dysplasia with natal teeth, Turnpenny type', 'Ciliary dyskinesia, primary, 28', 'Arthrogryposis, distal, type 3', 'Adenomatous polyposis coli', 'Peroxisome biogenesis disorder 14B', 'Spinocerebellar ataxia, autosomal recessive 29', 'Epidermolysis bullosa, junctional 4, intermediate', 'Spastic paraplegia 86, autosomal recessive', 'Ciliary dyskinesia, primary, 42', 'Tumor predisposition syndrome', 'Spondyloperipheral dysplasia', 'Exudative vitreoretinopathy 1', 'Parkinsonism with polyneuropathy', 'Leopard syndrome 3', 'Charcot-Marie-Tooth disease, axonal, type 2D', 'Blepharophimosis with ptosis, syndactyly, and short stature', 'Spondyloepimetaphyseal dysplasia, Camera-Genevieve type', 'Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy', 'Orofaciodigital syndrome XV', 'Mend syndrome', 'Epileptic encephalopathy, early infantile, 84', 'Spastic paraplegia 37, autosomal dominant', 'Retinitis pigmentosa 12', 'Goldberg-Shprintzen syndrome', 'Spinocerebellar ataxia, autosomal recessive 16', 'Coffin-Siris syndrome 7', 'Leukodystrophy, hypomyelinating, 19, transient infantile', 'Hypotonia, infantile, with psychomotor retardation', 'Epileptic encephalopathy, early infantile, 19', 'Epileptic encephalopathy, early infantile, 32', 'Spinocerebellar ataxia 28', 'Alexander disease', 'Parkinson disease 14, autosomal recessive', 'Tessadori-van Haaften neurodevelopmental syndrome 3', 'Tuberous sclerosis-1', 'Leukodystrophy, hypomyelinating, 6', 'Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis', 'Spastic paraplegia 82, autosomal recessive', 'Intellectual developmental disorder, autosomal recessive 70', 'Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3', 'Parkinson disease 6, autosomal recessive early-onset', 'Deafness, autosomal dominant 85', 'Palmoplantar keratoderma and congenital alopecia 2', 'Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta', 'Spinocerebellar ataxia 11', 'Peeling skin syndrome 4', 'Peripheral cone dystrophy', 'Usher syndrome, type IIIA', 'Night blindness, congenital stationary, type 1F', 'Amyloidosis, primary localized cutaneous, 3', 'Ichthyosis hystrix, Curth-Macklin type', 'Ectodermal dysplasia 9, Hair/nail type', 'Microcornea, myopic chorioretinal atrophy, and telecanthus', 'Retinitis pigmentosa 69', 'Retinitis pigmentosa 97', 'Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive', 'Retinitis pigmentosa 38', 'Optic atrophy 9', 'Edict syndrome', 'Dermatopathia pigmentosa reticularis', 'Keratosis linearis with ichthyosis congenita and sclerosing keratoderma', 'Yemenite deaf-blind hypopigmentation syndrome', 'Witkop syndrome', 'Deafness, sensorineural, and male infertility', 'Cone-Rod dystrophy 18', 'Cone-Rod dystrophy 19', 'Hyperpigmentation, familial progressive', 'Macular dystrophy, vitelliform, 5', 'Acrokeratosis verruciformis', 'Palmoplantar keratoderma and woolly hair', 'Epidermodysplasia verruciformis, susceptibility to, 3', 'Spermatogenic failure 2', 'Tietz albinism-deafness syndrome', 'Spermatogenic failure 38', 'Usher syndrome, type I', 'Spermatogenic failure 56', 'Spermatogenic failure 39', 'Spermatogenic failure, X-linked, 5', 'Spermatogenic failure 34', 'Spermatogenic failure 72', 'Polymicrogyria, bilateral frontoparietal', 'Robinow syndrome, autosomal recessive 2', 'Epileptic encephalopathy, early infantile, 56', 'Hand-foot-uterus syndrome', 'Teebi-Shaltout syndrome', 'Parkinson disease 7, autosomal recessive early-onset', 'Neuropathy, distal hereditary motor, type VC', 'Microphthalmia, syndromic 8', 'Spinocerebellar ataxia 34', 'Joubert syndrome 14', 'Spermatogenic failure 77', 'Retinal dystrophy with or without extraocular anomalies', 'Basal cell nevus syndrome 2', 'Charcot-Marie-Tooth disease, axonal, type 2FF', 'Spastic paraplegia 13, autosomal dominant', 'Ciliary dyskinesia, primary, 38', 'Ciliary dyskinesia, primary, 49, without situs inversus', 'Autism susceptibility, X-linked 1', 'Corpus callosum, agenesis of, with facial anomalies and Robin sequence', 'Ciliary dyskinesia, primary, 34', 'Ulna and fibula, absence of, with severe limb deficiency', 'Exfoliation syndrome', 'Spinal muscular atrophy, distal, autosomal recessive, 2', 'Neurodevelopmental disorder with poor language and loss of hand skills', 'Developmental and epileptic encephalopathy 57', 'Schilbach-Rott syndrome', 'Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism', 'Developmental and epileptic encephalopathy 108', 'Intellectual developmental disorder 60 with seizures', 'Myopathy, centronuclear, 6, with fiber-type disproportion', 'Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities', 'Ciliary dyskinesia, primary, 7', 'Charcot-Marie-Tooth disease, axonal, type 2DD', 'Alternating hemiplegia of childhood 2', 'Cone-rod dystrophy 22', 'Charcot-Marie-Tooth disease, axonal, type 2V', 'Huntington disease-like 1', 'MICROHYDRANENCEPHALY', 'Intellectual developmental disorder, autosomal recessive 48', 'Congenital disorder of glycosylation, type 2V', 'Spastic paraplegia 57, autosomal recessive', 'Alopecia-mental retardation syndrome 4', 'Xeroderma pigmentosum, complementation group A', 'Developmental and epileptic encephalopathy 17', 'Microphthalmia, isolated 5', 'Basal ganglia calcification, idiopathic, 4', 'Weyers ulnar ray/oligodactyly syndrome', 'Cherubism', 'Neuropathy, ataxia, and retinitis pigmentosa', 'Intellectual developmental disorder, autosomal dominant 5', 'Triglyceride storage disease, type I', 'Spinocerebellar ataxia 40', 'Otofaciocervical syndrome', 'Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements', 'Laryngoonychocutaneous syndrome', 'MOMO syndrome', 'Robinow syndrome, autosomal dominant 2', 'Joubert syndrome 30', 'Corneal dystrophy, congenital stromal', 'Cone dystrophy 4', 'Cataract 2, multiple types', 'Oculocutaneous albinism, type VIII', 'Prieto syndrome', 'Pontocerebellar hypoplasia, type 2F', 'Spastic paraplegia 36, autosomal dominant', 'Fibrosis of extraocular muscles, congenital, 2', 'Pfeiffer syndrome', 'Congenital hemidysplasia with ichthyosiform erythroderma and limb defects', 'Cortical dysplasia, complex, with other brain malformations 7', 'Myopathy, scapulohumeroperoneal', 'Epidermolysis bullosa simplex, Dowling-Meara type', 'Neuropathy, hereditary sensory, type IIC', 'Epidermolysis bullosa, lethal acantholytic', 'Dystonia 22, juvenile-onset', 'Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia', 'Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities', 'Catifa syndrome', 'Epileptic encephalopathy, early infantile, 52', 'Muscular dystrophy, Becker type', 'Neurodevelopmental disorder with or without early-onset generalized epilepsy', 'Malan syndrome', 'Ciliary dyskinesia, primary, 19', 'Acrorenal-Mandibular syndrome', 'Developmental and epileptic encephalopathy 15', 'Spastic paraplegia 19, autosomal dominant', 'Spastic tetraplegia, thin corpus callosum, and progressive microcephaly', 'Developmental and epileptic encephalopathy 14', 'Spinocerebellar ataxia 49', 'Stapes ankylosis with broad thumb and toes', 'Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures', 'Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth', 'Basal ganglia calcification, idiopathic, 8, autosomal recessive', 'Microphthalmia, isolated 8', 'Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant', 'Epilepsy, familial adult myoclonic, 3', 'Neurofacioskeletal syndrome with or without renal agenesis', 'Multiple congenital anomalies-hypotonia-seizures syndrome 1', 'Pituitary hormone deficiency, combined or isolated, 8', 'Mental retardation, autosomal dominant 44', 'Myasthenic syndrome, congenital, 18', 'Frontotemporal lobar degeneration with TDP43 inclusions', 'Retinitis pigmentosa 60', 'Retinitis pigmentosa 41', 'Spinal muscular atrophy, type I', 'Microcephaly and chorioretinopathy, autosomal recessive, 2', 'Saethre-Chotzen syndrome', 'Dyskinesia, seizures, and intellectual developmental disorder', 'Spastic paraplegia 87, autosomal recessive', 'Joubert syndrome 7', 'Myotonia congenita, autosomal dominant', 'Epileptic encephalopathy, early infantile, 24', 'Spastic paraplegia 55, autosomal recessive', 'Spastic ataxia, Charlevoix-Saguenay type', 'Nail-Patella syndrome', 'Cree mental retardation syndrome', 'Stickler syndrome, type IV', 'Charcot-Marie-Tooth disease, axonal, type 2X', 'Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures', 'Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy', 'Dystonia 33', 'Ciliary dyskinesia, primary, 32', 'Mental retardation, autosomal recessive 39', 'Spastic paraplegia 38, autosomal dominant', '46,xx sex reversal 4', 'Renal hypodysplasia/aplasia 3', 'Auriculocondylar syndrome 4', 'Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum', 'Lichtenstein-Knorr syndrome', 'Fibrosis of extraocular muscles, congenital, 1', 'Neurodevelopmental disorder with severe motor impairment and absent language', 'Spinocerebellar ataxia 12', 'Spastic ataxia 9, autosomal recessive', 'Ciliary dyskinesia, primary, 9, with or without situs inversus', 'Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies', 'Alzahrani-Kuwahara syndrome', 'Autism susceptibility, X-linked 3', 'Retinal degeneration with nanophthalmos, cystic macular degeneration,and angle closure glaucoma', 'Joubert syndrome 24', 'Tooth agenesis, selective, 3', 'Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis', 'Pelizaeus-Merzbacher disease', 'Cataract 50 with or without glaucoma', 'Woolly hair, autosomal dominant', 'Cornea plana 2', 'Pityriasis rubra pilaris', 'Epidermolysis bullosa simplex 2A, generalized severe', 'Retinal degeneration, late-onset, autosomal dominant', 'Hypertrichosis terminalis, generalized, with or without gingival hyperplasia', 'Myopia, high, with cataract and vitreoretinal degeneration', '46,xy sex reversal 6', '46,xy sex reversal 7', 'Dystonia 6, torsion', 'Spermatogenic failure 54', 'Spermatogenic failure 51', 'Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities', 'Down syndrome', 'Stickler syndrome, type II', 'Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia', 'Spastic paraplegia 47, autosomal recessive', 'Intellectual developmental disorder, autosomal recessive 44', 'Cleft, median, of upper lip with polyps of facial skin and nasal mucosa', 'Faciodigitogenital syndrome, autosomal recessive', 'Acrofacial dysostosis syndrome of rodriguez', 'Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome', \"Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp\", 'Mitochondrial form of axonal Charcot-Marie-Tooth disease-1', 'Orofaciodigital syndrome XIV', '3MC syndrome 2', 'Stickler syndrome, type VI', 'Developmental and epileptic encephalopathy 33', 'Retinitis pigmentosa 72', 'Ceroid lipofuscinosis, neuronal, 7', 'Marden-Walker syndrome', 'Epileptic encephalopathy, early infantile, 43', 'Odontotrichoungual-Digital-Palmar syndrome', 'Deafness, cataract, impaired intellectual development, and polyneuropathy', 'Poretti-Boltshauser syndrome', 'Mental retardation, anterior maxillary protrusion, and strabismus', 'Temtamy preaxial brachydactyly syndrome', 'Melnick-Needles syndrome', 'Spastic paraplegia 81, autosomal recessive', 'Dystonia 11, myoclonic', 'Birt-Hogg-Dube syndrome', 'Epilepsy, idiopathic generalized, susceptibility to, 15', 'Zimmermann-Laband syndrome 3', 'Neuronopathy, distal hereditary motor, type VA', 'Cortical dysplasia, complex, with other brain malformations 9', 'Developmental and epileptic encephalopathy 26', 'Spinocerebellar ataxia, autosomal recessive 14', 'Intellectual developmental disorder, autosomal dominant 30', 'Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis', 'Charcot-Marie-Tooth disease, demyelinating, type 1I', 'Rodrigues blindness', 'Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies', '46XY sex reversal 1', 'Waardenburg syndrome, type 4C', 'Mental retardation, autosomal dominant 1', 'Spastic paraplegia, intellectual disability, nystagmus, and obesity', 'Leukodystrophy, progressive, early childhood-onset', 'Chiari malformation type II', 'Retinal cone dystrophy 3B', 'Cone-rod dystrophy and hearing loss', 'Achromatopsia 3', 'Leber congenital amaurosis with early-onset deafness', 'Senior-Loken syndrome 3', 'Cerebellofaciodental syndrome', 'Carpenter syndrome 2', 'Arthrogryposis, distal, type 5D', 'Trichothiodystrophy 9, nonphotosensitive', 'Spinocerebellar ataxia 20', 'Duchenne muscular dystrophy', 'Spastic ataxia 3, autosomal recessive', 'Frontonasal dysplasia 3', 'Spastic paraplegia 12, autosomal dominant', 'Spinocerebellar ataxia 15', 'Ceroid lipofuscinosis, neuronal, 13', 'Mullerian aplasia and hyperandrogenism', 'Ichthyosis, congenital, autosomal recessive 9', 'Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism', 'Neurodegeneration with brain iron accumulation 6', 'Dentatorubral-pallidoluysian atrophy', 'Myopathy, congenital proximal, with minicore lesions', 'Dystonia 26, myoclonic', 'Spinocerebellar ataxia 17', 'Camptodactyly syndrome, Guadalajara, type III', 'Brown-Vialetto-Van Laere syndrome 1', 'Developmental and epileptic encephalopathy 6B, non-Dravet', 'Hypogonadotropic hypogonadism 12 with or without anosmia', 'Brachycephaly, deafness, cataract, microstomia, and mental retardation', 'Chromosome 16p13.2 deletion syndrome', 'Pontocerebellar hypoplasia, type 7', '46, XY sex reversal 11', 'Coenzyme Q10 deficiency, primary, 9', 'Spinocerebellar ataxia 23', 'Palmoplantar keratoderma with congenital alopecia', 'Mental retardation, autosomal recessive 38', 'Ichthyosis with erythrokeratoderma', 'Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy', 'Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities', 'Neuronopathy, distal hereditary motor, type IIC', 'Neurodevelopmental disorder with speech delay and variable ocular anomalies', 'Leukoencephalopathy with ataxia', 'Hereditary motor and sensory neuropathy VIA', 'Hemifacial microsomia with radial defects', 'Intellectual developmental disorder with neuropsychiatric features', 'Craniosynostosis and dental anomalies', 'Developmental and epileptic encephalopathy 23', 'Beare-Stevenson cutis gyrata syndrome', 'Orofaciodigital syndrome IX', 'Spinocerebellar ataxia 43', 'Retinitis pigmentosa 10', 'Cone-rod dystrophy 3', 'Donnai-Barrow syndrome', 'Ciliary dyskinesia, primary, 30', 'Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities', 'Spastic paraplegia, ataxia, and mental retardation', 'Intellectual developmental disorder, autosomal recessive 43', 'Rafiq syndrome', 'Mental retardation, autosomal dominant 55, with seizures', 'Sjogren-Larsson syndrome', 'Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2', 'Whistling face syndrome, recessive form', 'Optic atrophy 10 with or without ataxia, mental retardation, and seizures', 'Optic atrophy 7 with or without auditory neuropathy', 'Ichthyosis prematurity syndrome', 'Developmental and epileptic encephalopathy 97', 'Hypogonadotropic hypogonadism 3 with or without anosmia', 'Acrofrontofacionasal dysostosis 2', 'Charcot-Marie-Tooth disease, axonal, type 2E', 'Muenke syndrome', 'Intellectual developmental disorder with ocular anomalies and distinctive facial features', 'Myasthenic syndrome, congenital, 7, presynaptic', 'Indifference to pain, congenital, autosomal recessive', 'Frontonasal dysplasia 1', 'Neurodevelopmental disorder with dysmorphic facies and variable seizures', 'Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation', 'Epileptic encephalopathy, early infantile, 74', 'Microcephaly 29, primary, autosomal recessive', 'Beaulieu-Boycott-Innes syndrome', 'Intellectual developmental disorder, autosomal recessive 67', 'Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4', 'Epilepsy, familial adult myoclonic, 2', 'Spermatogenic failure, X-linked, 6', 'Microcephaly and chorioretinopathy, autosomal recessive, 1', 'Bjornstad syndrome', 'Otodental dysplasia', 'Microcephaly 20, primary, autosomal recessive', 'Ichthyosis, congenital, autosomal recessive 2', 'Epilepsy, progressive myoclonic, 8', 'Ritscher-Schinzel syndrome 4', 'Epileptic encephalopathy, early infantile, 81', 'Snijders Blok-Fisher syndrome', 'Leukoencephalopathy, brain calcifications, and cysts', 'Developmental and epileptic encephalopathy 100', 'Joubert syndrome 4', 'Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities', 'Hypotrichosis 1', 'Hypotrichosis 5', 'Branchiootic syndrome 1', 'Monilethrix', 'Retinitis pigmentosa 66', 'Usher syndrome, type IV', 'Epidermolysis bullosa simplex, generalized, with scarring and hair loss', 'Inflammatory poikiloderma with hair abnormalities and acral keratoses', 'Coloboma, ocular, autosomal recessive', 'Bietti crystalline corneoretinal dystrophy', 'Anterior segment dysgenesis 8', 'Ectodermal dysplasia 8, Hair/tooth/nail type', 'Spermatogenic failure 65', 'Spermatogenic failure 84', 'Emery-Dreifuss muscular dystrophy 1, X-linked', 'Cerebellar ataxia and hypogonadotropic hypogonadism', 'Hypogonadotropic hypogonadism 7 without anosmia', 'Intellectual developmental disorder with paroxysmal dyskinesia or seizures', 'Blepharocheilodontic syndrome 2', 'Intellectual developmental disorder with seizures and language delay', 'Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures', 'Tessadori-van Haaften neurodevelopmental syndrome 2', 'Scapuloperoneal spinal muscular atrophy', 'Spinocerebellar ataxia, autosomal recessive 18', 'Pitt-Hopkins syndrome', 'Immunoneurologic disorder, X-linked', 'Neuronopathy, distal hereditary motor, type IID', 'Epileptic encephalopathy, early infantile, 61', 'Teebi hypertelorism syndrome 1', 'Cerebellar atrophy, visual impairment, and psychomotor retardation', 'Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency', 'Coffin-Siris syndrome 9', 'Spastic paraplegia 43, autosomal recessive', 'Ciliary dyskinesia, primary, 15', 'Anonychia-Onychodystrophy with hypoplasia or absence of distal phalanges', 'Spinocerebellar ataxia, autosomal recessive 2', 'Craniofacioskeletal syndrome', 'Elejalde disease', 'Spinocerebellar ataxia, autosomal recessive 15', 'Ectodermal dysplasia 15, Hypohidrotic/hair type', 'Agenesis of corpus callosum, cardiac, ocular, and genital syndrome', 'Ciliary dyskinesia, primary, 26', 'Hydrocephalus, congenital, 2, with or without brain or eye anomalies', 'Retinitis pigmentosa with or without situs inversus', 'Cone-rod dystrophy, X-linked, 1', 'Leber congenital amaurosis 16', 'Charcot-Marie-Tooth disease, X-linked recessive, 5', 'Macular dystrophy, patterned, 1', 'Macular dystrophy, vitelliform, 3', 'Chromosome 9P deletion syndrome', 'Waardenburg syndrome, type 2E', 'PHACE association', 'Cowden syndrome 5', 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3', 'Deafness, congenital, and onychodystrophy, autosomal dominant', 'Neurodevelopmental disorder with language impairment and behavioral abnormalities', 'Epileptic encephalopathy, early infantile, 31', 'Spastic paraplegia 78, autosomal recessive', 'Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma', 'Darier-White disease', 'Spinocerebellar ataxia 47', 'Dystonia 34, myoclonic', 'Basan syndrome', 'Epidermolysis bullosa, junctional, Non-Herlitz type', 'Optic atrophy 5', 'Usmani-Riazuddin syndrome, autosomal dominant', 'Spastic paraplegia 45, autosomal recessive', 'Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2', 'Spinocerebellar ataxia, autosomal recessive 4', 'Lamb-Shaffer syndrome', 'Intellectual developmental disorder with autism and dysmorphic facies', 'Retinitis pigmentosa 56', 'Chromosome 15q14 deletion syndrome', 'Developmental delay with or without dysmorphic facies and autism', 'Epilepsy, progressive myoclonic, 10', 'Episodic ataxia, type 2', 'Deafness, congenital, with inner ear agenesis, microtia, and microdontia', 'Epileptic encephalopathy, early infantile, 9', 'Spastic paraplegia 10, autosomal dominant', 'Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities', 'Aarskog-Scott syndrome', 'Pallister-Hall syndrome', 'Leber congenital amaurosis 14', 'Olmsted syndrome 2', 'Developmental and epileptic encephalopathy 99', 'Developmental and epileptic encephalopathy 98', 'Macrocephaly, acquired, with impaired intellectual development', 'Fetal akinesia deformation sequence 4', 'Epileptic encephalopathy, early infantile, 67', 'Leukodystrophy, hypomyelinating, 22', 'Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum', 'Ciliary dyskinesia, primary, 51', 'Intellectual developmental disorder with severe speech and ambulation defects', 'Hallermann-Streiff syndrome', 'Spastic paraplegia 18, autosomal recessive', 'Mental retardation, X-linked, syndromic 14', 'Neurodevelopmental disorder with microcephaly and structural brain anomalies', 'Trigonocephaly with short stature and developmental delay', 'Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy', 'Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities', 'Craniofacial anomalies and anterior segment dysgenesis syndrome', 'Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition', 'Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)', 'Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy', 'Kosaki overgrowth syndrome', 'Epileptic encephalopathy, early infantile, 87', 'Mental retardation, X-linked, syndromic 33', 'Hypotonia, infantile, with psychomotor retardation and characteristic facies 3', 'Cone-rod dystrophy 24', 'Epileptic encephalopathy, early infantile, 37', 'Mental retardation, X-linked, syndromic, Martin-Probst type', 'Congenital anomalies of kidney and urinary tract 3', 'Warburg-Cinotti syndrome', 'Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies', 'Ichthyosis, cyclic, with epidermolytic hyperkeratosis', 'Chromosome 8q21.11 deletion syndrome', 'Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant', 'Ectodermal dysplasia 13, Hair/tooth type', 'Spinocerebellar ataxia 2', 'Ectodermal dysplasia 4, Hair/nail type', 'Macular dystrophy with central cone involvement', 'Keratosis palmoplantaris striata I', 'Pachyonychia congenita 3', 'Palmoplantar keratoderma, Nagashima type', 'Intellectual developmental disorder 59', 'Cataract 21, multiple types', '46,XX sex reversal 2', 'Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy', 'Neurodevelopmental disorder with microcephaly and movement abnormalities', 'Persistent hyperplastic primary vitreous, autosomal recessive', 'Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus', 'Develomental and epileptic encephalopathy 94', 'Multiple myeloma', 'Leber congenital amaurosis, type II', 'Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive', 'Chromosome 3q13.31 deletion syndrome', 'Cerebellar dysfunction with variable cognitive and behavioral abnormalities', 'Intellectual disability and myopathy syndrome', 'Spinocerebellar ataxia 50', 'Chromosome 17p13.1 deletion syndrome', 'White-Kernohan syndrome', 'Spinocerebellar ataxia 13', 'Blepharophimosis-impaired intellectual development syndrome', 'Acrofrontofacionasal dysostosis 1', 'Adenylosuccinase deficiency', 'Joubert syndrome 28', 'Brachydactyly, type C', 'Retinitis pigmentosa 3', 'Episodic ataxia, type 5', 'Machado-Joseph disease', 'Ichthyosis, congenital, autosomal recessive 6', 'Peroxisome biogenesis disorder 10B', 'Neurodegeneration with brain iron accumulation 2A', 'Myopathy, X-linked, with postural muscle atrophy', 'Mental retardation, autosomal dominant 49', 'Vulto-van Silfout-de Vries syndrome', 'Keratosis follicularis spinulosa decalvans, autosomal dominant', 'Parkinson disease 15, autosomal recessive early-onset', 'Cerebellar atrophy with seizures and variable developmental delay', 'Spastic ataxia 2, autosomal recessive', 'Hypogonadotropic hypogonadism 16 with or without anosmia', 'Spastic ataxia 4, autosomal recessive', 'Lissencephaly 10', 'Axenfeld-Rieger syndrome, type 1', 'Spastic paraplegia 3, autosomal dominant', 'Coffin-Lowry syndrome', 'Myasthenia, limb-girdle, autoimmune', 'Neurodevelopmental disorder with hearing loss and spasticity', 'Cowden syndrome 6', 'Acromelic frontonasal dysostosis', 'Dystonia 30', 'Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia', 'Marbach-Schaaf neurodevelopmental syndrome', 'Richieri-Costa/guion-Almeida syndrome', 'Seckel syndrome 5', 'Congenital anomalies of kidney and urinary tract 2', 'Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly', 'Leukoencephalopathy, progressive, with ovarian failure', 'Spinocerebellar ataxia, autosomal recessive 10', 'Developmental and epileptic encephalopathy 93', 'Frontotemporal dementia and/or amytrophic lateral sclerosis 7', 'Nystagmus 4, congenital, autosomal dominant', 'Zimmermann-Laband syndrome 2', 'Zechi-Ceide syndrome', 'Holoprosencephaly 5', 'Chromosome 1q41-q42 deletion syndrome', 'Lissencephaly 6, with microcephaly', 'Ichthyosis, congenital, autosomal recessive 1', 'Trichothiodystrophy 4, nonphotosensitive', 'Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant', 'Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma', 'Chilton-Okur-Chung neurodevelopmental syndrome', 'Mesomelia-Synostoses syndrome', 'Mental retardation and distinctive facial features with or without cardiac defects', 'Weaver syndrome', 'Leukodystrophy, hypomyelinating, 2', 'Holoprosencephaly 9', 'Popliteal pterygium syndrome', 'Hypotrichosis 12', 'Bryant-Li-Bhoj neurodevelopmental syndrome 1', 'Wagner vitreoretinopathy', 'Neurodevelopmental disorder with or without variable movement or behavioral abnormalities', 'Cone-Rod dystrophy 20', 'Epidermolysis bullosa simplex with mottled pigmentation', 'Foveal hypoplasia 2', 'Waardenburg syndrome, type 2F', 'Breasts and/or nipples, aplasia or hypoplasia of, 2', 'Cutaneous telangiectasia and cancer syndrome, familial', 'Mental retardation and microcephaly with pontine and cerebellar hypoplasia', 'Pitt-Hopkins like syndrome 1', 'Holoprosencephaly 3', 'Nablus mask-like facial syndrome', 'Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1', 'Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia', 'Spastic paraplegia 48, autosomal recessive', 'Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset', 'Epileptic encephalopathy, early infantile, 42', 'Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia', 'Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly', 'Epileptic encephalopathy, early infantile, 4', 'Spastic paraplegia 17', 'Spastic paraplegia 51, autosomal recessive', 'Hypogonadotropic hypogonadism 22 with or without anosmia', 'Kufor-Rakeb syndrome', 'Spastic paraplegia 6, autosomal dominant', 'Cognitive impairment with or without cerebellar ataxia', 'Parkinson disease 19a, juvenile-onset', 'Radio-Tartaglia syndrome', 'Testicular tumor, somatic', 'Developmental and epileptic encephalopathy 28', 'Lethal congenital contracture syndrome 9', 'Macroglobulinemia, Waldenstrom, somatic', 'Mental retardation, x-linked syndromic, Christianson type', 'Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies', 'Corneal dystrophy, posterior polymorphous, 1', 'Chromosome 16q12 duplication syndrome', 'Spinocerebellar ataxia 29, congenital nonprogressive', 'Microphthalmia, syndromic 1', 'Neuropathy, hereditary sensory and autonomic, type IC', 'Interstitial lung disease 1', 'CHOROIDEREMIA', 'Warburg micro syndrome 2', 'Menke-Hennekam syndrome 1', 'Mental retardation, x-linked syndromic, Turner type', 'Jalili syndrome', 'Nemaline myopathy 7', 'Complement component 4B deficiency', 'Cousin syndrome', 'Fraser syndrome', 'Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies', 'Hemifacial microsomia', 'Amyotrophic lateral sclerosis 27, juvenile', 'Arthrogryposis multiplex congenita, neurogenic, with myelin defect', 'Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features', 'Corpus callosum, agenesis of, with abnormal genitalia', 'Dystonia 28, childhood-onset', 'Spastic paraplegia 80, autosomal dominant', 'Mehmo syndrome', 'Spinocerebellar ataxia, autosomal recessive 13', 'Ectodermal dysplasia 7, Hair/nail type', 'Developmental and epileptic encephalopathy 48', 'Macrophthalmia, colobomatous, with microcornea', 'Corneal opacification with other ocular anomalies', 'Epidermolysis bullosa, junctional 5A, intermediate', 'Epilepsy, familial temporal lobe, 1', 'Hypotrichosis 8', '46,XY sex reversal 10', 'Intellectual developmental disorder with hypertelorism and distinctive facies', 'Chromosome 1p36 deletion syndrome', 'Mental retardation, X-linked 98', 'Ayme-Gripp syndrome', 'Mental retardation, X-linked, syndromic, Snyder-Robinson type', 'Periventricular nodular heterotopia 9', 'Floating-Harbor syndrome', 'Spastic paraplegia 35, autosomal recessive', 'Restrictive dermopathy 1', 'Epileptic encephalopathy, early infantile, 13', 'Ciliary dyskinesia, primary, 22', 'Pachyonychia congenita 2', 'Hiatt-Neu-Cooper neurodevelopmental syndrome', 'Basilicata-Akhtar syndrome', 'Optic disc anomalies with retinal and/or macular dystrophy', 'Nasopalpebral lipoma-coloboma syndrome', 'Spinocerebellar ataxia 5', 'Parenti-Mignot neurodevelopmental syndrome', 'Ciliary dyskinesia, primary, 5', 'Gallbladder disease 4', 'Tolchin-Le Caignec syndrome', 'Parkinson disease, juvenile, type 2', 'Mental retardation, x-linked syndromic, Lubs type', 'Spastic paraplegia 50, autosomal recessive', 'Optic atrophy 1', 'Robinow syndrome, autosomal recessive', 'Galloway-Mowat syndrome 2, X-linked', 'Scalp-ear-nipple syndrome', 'Spinocerebellar ataxia 1', 'Hengel-Maroofian-Schols syndrome', 'Hay-Wells syndrome', 'Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures', 'Spinocerebellar ataxia, autosomal recessive 17', 'Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked', 'Alazami-Yuan syndrome', 'Basal ganglia calcification, idiopathic, 5', 'Neuropathy, hereditary motor and sensory, type VIB', 'Genitourinary and/or/brain malformation syndrome', 'Hereditary motor and sensory neuropathy, type IIC', 'Tuberous sclerosis-2', 'Duane-Radial ray syndrome', 'Hypotrichosis 7', 'Anterior segment dysgenesis 5, multiple subtypes', 'Cone-Rod dystrophy 2', 'Albinism, oculocutaneous, type II', 'Ectodermal dysplasia/skin fragility syndrome', 'Waardenburg syndrome, type 2A', 'Trichothiodystrophy 8, nonphotosensitive', 'Developmental and epileptic encephalopathy 105 with hypopituitarism', 'Denys-Drash syndrome', 'Spastic paraplegia 52, autosomal recessive', 'Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation', 'Achromatopsia 2', 'Craniofacial dyssynostosis with short stature', 'Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type', 'Epilepsy, idiopathic generalized, susceptibility to, 9', 'Thrombophilia, X-linked, due to factor IX defect', 'Ichthyosis, hystrix-like, with deafness', 'Mandibulofacial dysostosis with alopecia', 'Cri-Du-Chat syndrome', 'Intellectual developmental disorder, autosomal recessive 45', 'Developmental delay with variable neurologic and brain abnormalities', 'Adams-Oliver syndrome 2', 'Urbach-Wiethe disease', 'Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism,and facial dysmorphism', 'Coffin-Siris syndrome 1', 'Leber congenital amaurosis 8', 'Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic', 'Neurodevelopmental disorder with midbrain and hindbrain malformations', 'Orofaciodigital syndrome XI', 'Spastic paraplegia 4, autosomal dominant', 'Short stature, hearing loss, retinitis pigmentosa, and distinctive facies', 'Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctatecalcifications, and deafness', 'Cleft lip/palate-ectodermal dysplasia syndrome', 'Simosa craniofacial syndrome', 'Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly', 'Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract', 'Ichthyosis, congenital, autosomal recessive 11', 'Mental retardation, autosomal dominant 18', 'Pseudohypoparathyroidism, type II', 'Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads', 'Neurofibromatosis, type II', 'Joubert syndrome 3', 'Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits', 'Neurodevelopmental disorder with poor growth and skeletal anomalies', 'Van den Ende-Gupta syndrome', 'Robinow syndrome, autosomal dominant 1', 'Marshall syndrome', 'Otopalatodigital syndrome, type II', 'Olmsted syndrome 1', 'Mental retardation, autosomal dominant 34', 'Brachycephaly, trichomegaly, and developmental delay', 'Waardenburg syndrome, type 1', 'Dentici-Novelli neurodevelopmental syndrome', 'Constricting bands, congenital', 'Spastic paraplegia 46, autosomal recessive', 'Complement component c1s deficiency', 'Global developmental delay, lung cysts, overgrowth, and wilms tumor', 'Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb', 'Warburg micro syndrome 3', 'Joubert syndrome 5', 'Cerebrooculonasal syndrome', 'Treacher Collins syndrome 1', 'ENDOCRINE-CEREBROOSTEODYSPLASIA', 'Chromosome xq27.3-q28 duplication syndrome', 'Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type', 'Skin creases, congenital symmetric circumferential, 1', 'Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities', 'Anterior segment dysgenesis 2', 'Holoprosencephaly 7', 'Retinitis pigmentosa 2, X-linked', 'Hypogonadotropic hypogonadism 23 without anosmia', 'Developmental and epileptic encephalopathy 89', 'Hypertension, essential', 'Spastic paraplegia 75, autosomal recessive', 'Teebi hypertelorism syndrome 2', 'Spastic paraplegia 26, autosomal recessive', 'Membranoproliferative glomerulonephritis, X-linked', 'Clouston syndrome', 'KBG syndrome', 'Arthrogryposis, distal, type 5', 'Albinism, oculocutaneous, type IA', 'Frontofacionasal dysplasia', 'Spastic paraplegia 79, autosomal recessive', 'Adult syndrome', 'Elsahy-Waters syndrome', 'Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism', 'Auriculocondylar syndrome 1', 'Spinal and bulbar muscular atrophy, X-linked 1', 'Myasthenia gravis', 'Intellectual developmental disorder, autosomal dominant 38', 'Ohdo syndrome, X-linked', 'Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs', 'Epileptic encephalopathy, early infantile, 49', \"Van Esch-O'Driscoll syndrome\", 'Leber congenital amaurosis 15', 'Liang-Wang syndrome', 'Mental retardation, X-linked, syndromic 34', 'CK syndrome', 'Popliteal pterygium syndrome, Bartsocas-Papas type 1', 'Ablepharon-Macrostomia syndrome', 'Spinocerebellar ataxia 21', 'Oculodentodigital dysplasia', 'Charcot-Marie-Tooth disease, axonal, type 2Z', 'Intellectual developmental disorder, autosomal recessive 61', 'Multiple synostoses syndrome 1', 'Bosma arhinia microphthalmia syndrome', 'Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy', 'Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features', 'Doors syndrome', 'Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive', 'Mental retardation, autosomal dominant 29', 'Chromosome 6q11-q14 deletion syndrome', 'Leber congenital amaurosis 9', 'Ectodermal dysplasia and immunodeficiency 1', 'Cerebellar, ocular, craniofacial, and genital syndrome', 'Microphthalmia, isolated, with coloboma 9', 'Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities', 'Chromosome 16p13.3 duplication syndrome', 'Knobloch syndrome, type 1', 'Chloramphenicol toxicity', 'Charcot-Marie-Tooth neuropathy, X-linked dominant, 1', 'Orofacial cleft 15', 'Joubert syndrome 10', 'Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant', 'Pallister-Killian syndrome', 'Immunodeficiency 50', 'Intellectual developmental disorder, X-linked, syndrome, snijders Blok type', 'Epileptic encephalopathy, early infantile, 64', 'Blepharophimosis, epicanthus inversus, and ptosis', 'Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia', 'Schopf-Schulz-Passarge syndrome', 'Retinitis pigmentosa 73', 'Mental retardation, X-linked 99', 'Hypotonia, ataxia, and delayed development syndrome', 'Opitz-Kaveggia syndrome', 'Neurodevelopmental disorder with impaired language and ataxia and with or without seizures', 'Myelolymphatic insufficiency', 'VACTERL association, X-linked', 'Chromosome 2p16.1-p15 deletion syndrome', 'Nephrogenic syndrome of inappropriate antidiuresis', 'Congenital disorder of glycosylation, type IIm', 'Chromosome 17q12 deletion syndrome', 'Scapuloperoneal myopathy, X-linked dominant', 'Holoprosencephaly 13, X-linked', 'Intellectual developmental disorder, autosomal dominant 65', 'Wieacker-Wolff syndrome, female-restricted', 'Myopathy, X-linked, with excessive autophagy', 'Brachial amelia, cleft lip, and holoprosencephaly', 'Developmental and epileptic encephalopathy 90', 'Chromosome 5p13 duplication syndrome', 'Cornelia de Lange syndrome 2', 'Exudative vitreoretinopathy 6', 'Skin creases, congenital symmetric circumferential, 2', 'Myopathy, reducing body, X-linked, early-onset, severe', 'Choreoathetosis, hypothyroidism, and neonatal respiratory distress', 'Frontonasal dysplasia 2', 'Wieacker-Wolff syndrome', 'Trichothiodystrophy 5, nonphotosensitive', 'Mycosis fungoides', 'Orofaciodigital syndrome XIX', 'Branchiootorenal syndrome 1', 'Cardioneuromyopathy with hyaline masses and nemaline rods', 'Chromosome 6pter-p24 deletion syndrome', 'Robin sequence, distinctive facial appearance, and brachydactyly', 'Fragile site 16q22', 'Leukodystrophy, hypomyelinating, 24', 'Mental retardation, X-linked 99, syndromic, female-restricted', 'Myeloproliferative syndrome, transient', 'Brunner syndrome', 'Developmental and epileptic encephalopathy 2', 'Ritscher-Schinzel syndrome 2', 'Autism, susceptibility to, 3', 'Corpus callosum, agenesis of, with mental retardation, ocular coloboma,and micrognathia', 'Linear skin defects with multiple congenital anomalies 1', 'Panbronchiolitis, diffuse', 'Larsen-Like syndrome', 'Silver-Russell syndrome 2', 'Odontoonychodermal dysplasia', 'Burkitt lymphoma', 'Lacrimoauriculodentodigital syndrome-1', 'Curry-Jones syndrome', 'Spondyloepiphyseal dysplasia tarda, X-linked', 'Developmental delay with variable intellectual disability and dysmorphic facies', 'Terminal osseous dysplasia', 'Tonne-Kalscheuer syndrome', 'Chromosome 16p11.2 deletion syndrome, 593-kb', 'Thrombophilia 13, X-linked, due to factor VIII defect', 'Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome1', 'Neuroocular syndrome', 'Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3', 'Aicardi syndrome', 'Oculoauricular syndrome', 'Ectodermal dysplasia 1, hypohidrotic, X-linked', 'Rapp-Hodgkin syndrome', 'Varicose veins', 'Sturge-Weber syndrome', 'Mental retardation, X-linked 94', 'Simpson-Golabi-Behmel syndrome, type 2', 'Ischemic stroke, susceptibility to', 'Tetrasomy 15q26', 'Mental retardation, X-linked, syndromic 32', 'Chromosome 4q21 deletion syndrome', 'Developmental and epileptic encephalopathy 1', 'Ventricular fibrillation, familial, 1', 'Lipodystrophy, partial, acquired, with low complement component C3, with or without glomerulonephritis', 'Myopathy, centronuclear, X-linked', 'Dandy-Walker syndrome', 'Okt4 epitope deficiency', 'Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracicsomite anomalies', 'Diabetes mellitus, insulin-dependent, 15', 'OEIS complex', 'Arts syndrome', 'Barber-Say syndrome', 'Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration', 'Allan-Herndon-Dudley syndrome', 'Properdin deficiency, X-linked', 'Gomez-Lopez-Hernandez syndrome', 'Combined immunodeficiency, X-linked', 'Adrenoleukodystrophy', 'Otopalatodigital syndrome, type I', 'Developmental and epileptic encephalopathy 85, with or without midline brain defects', 'Borjeson-Forssman-Lehmann syndrome', 'Osteosclerosis - ichthyosis - premature ovarian failure', 'Preaxial hallucal polydactyly', 'Chromosome 22q11.2 deletion syndrome, distal', 'Granulomas, congenital cerebral', 'Hypogonadotropic hypogonadism 1 with or without anosmia', 'Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis', 'Incontinentia pigmenti', 'Ring chromosome 14 syndrome', 'Opitz GBBB syndrome', 'Psoriasis 1, susceptibility to', 'Asperger syndrome, susceptibility to, 2', 'Asperger syndrome, susceptibility to, 1', 'IFAP syndrome with or without BRESHECK syndrome', 'Encephalocraniocutaneous lipomatosis', 'Renpenning syndrome', 'Frontometaphyseal dysplasia', 'Craniofrontonasal syndrome', 'Diabetes mellitus, insulin-dependent, 6', 'Diabetes mellitus, insulin-dependent, 10', 'Autism susceptibility 1', 'Autism, susceptibility to, 8', 'Mental retardation, X-linked, syndromic, Chudley-Schwartz type', 'Barrett esophagus', 'Mental retardation, X-linked, syndromic, Cabezas type', 'McCune-Albright syndrome, somatic, mosaic', 'Aneurysm, intracranial berry, 2', 'Osteoarthritis susceptibility 1', 'Lujan-Fryns syndrome', 'Fragile X mental retardation syndrome', 'Focal cortical dysplasia of taylor', 'Mental retardation, X-linked, syndromic 17', 'Pettigrew syndrome', 'Oculocerebrocutaneous syndrome', 'Lymphoma, non-hodgkin, familial', 'MASA syndrome', 'Focal segmental glomerulosclerosis 3, susceptibility to', 'Chromosome Xq26.3 duplication syndrome', 'Myelodysplastic syndrome', 'Pelvic dysplasia - arthrogryposis of lower limbs', 'Neurocutaneous melanosis, somatic', 'Developmental dysplasia of the hip 1', 'Gout, hprt-related', 'Bartter syndrome, type 5, antenatal, transient', 'Branched-Chain ketoacid dehydrogenase kinase deficiency', 'Pulmonary alveolar proteinosis, acquired', 'Intellectual developmental disorder, X-linked 110', 'Linear skin defects with multiple congenital anomalies 2', 'CHOLANGIOCARCINOMA', 'Mental retardation, X-linked, syndromic 13', 'Mental retardation with optic atrophy, facial dysmorphism, microcephaly,and short stature', 'Wilson-Turner syndrome', 'Spinocerebellar ataxia, X-linked 1', 'Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia', 'Chondrodysplasia punctata 1, X-linked recessive', 'Acquired angioedema', 'Focal dermal hypoplasia', 'Mental retardation, X-linked, syndromic, Nascimento type', 'Mohr-Tranebjaerg syndrome', 'Angel-Shaped phalangoepiphyseal dysplasia', 'Amyotrophy, monomelic', 'Diabetes mellitus, insulin-dependent, 20', 'Mandibulofacial dysostosis with macroblepharon and macrostomia', 'Spinal muscular atrophy, distal, X-linked 3', 'Multiple sclerosis, susceptibility to', 'Hypouricemia, familial renal, due to tubular hypersecretion', 'Centralopathic epilepsy', 'Specific language impairment 1', 'Specific language impairment 2', 'Chromosome 16p12.1 deletion syndrome, 520kb', 'Pancreatic cancer, susceptibility to, 2', 'Diaphragmatic hernia, congenital', 'Perifolliculitis capitis abscedens et suffodiens, familial', 'Bulimia nervosa, susceptibility to, 1', 'Microphthalmia with cyst, bilateral facial clefts, and limb anomalies', 'Alcohol dependence', 'Carney-Stratakis syndrome', 'Leukemia, chronic lymphocytic', 'Hemifacial atrophy, progressive', 'Cubitus valgus with mental retardation and unusual facies', 'Leukemia, acute monocytic', 'B-CELL CLL/LYMPHOMA 2', 'Alopecia areata 1', 'Hypomelanosis of Ito', 'Myopia 7', 'Alar cleft, isolated', 'Renal cell carcinoma, nonpapillary', 'Corpus callosum, partial agenesis of, X-linked', 'Brachydactyly-Syndactyly syndrome', 'Hypothyroidism, central, and testicular enlargement', 'Hydrocephalus due to congenital stenosis of aqueduct of sylvius', 'Wildervanck syndrome', 'Leukemia, acute lymphocytic, susceptibility to, 1', 'Chromosome 22q13 duplication syndrome', 'Mental retardation, X-linked 72', 'Autism, susceptibility to, X-linked 6', 'Scarf syndrome', 'Palatopharyngeal incompetence', 'Carabelli anomaly of maxillary molar teeth', 'Orofacial cleft 10', 'Immunodeficiency 33', 'Corneal dystrophy, fuchs endothelial, 6', 'Androgen insensitivity syndrome', 'Intellectual developmental disorder, X-linked 108', 'Brugada syndrome 8', 'Waisman syndrome', 'Fragile X tremor/ataxia syndrome', 'Helicobacter pylori infection, susceptibility to', 'Developmental and epileptic encephalopathy 8', 'Neurodegeneration with brain iron accumulation 5', 'Gastric cancer, somatic', 'Potocki-Shaffer syndrome', 'Raynaud-Claes syndrome', 'Systemic lupus erythematosus, susceptibility to, 6', 'Scholte syndrome', 'Mental retardation, X-linked, associated with fragile site fraxe', 'Xq21 deletion syndrome', 'Mental retardation, X-linked, syndromic 11', 'Mental retardation, X-linked, syndromic, Hedera type', 'Intellectual developmental disorder, X-linked 30', 'Orofaciodigital syndrome VIII', 'Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance', 'Multiple enchondromatosis, Maffucci type', 'Intellectual developmental disorder, X-linked 82', 'Mental retardation, X-linked 104', 'Polymicrogyria, bilateral perisylvian', 'Arteriovenous malformation of the brain, somatic', 'Shukla-Vernon syndrome', 'Charcot-Marie-Tooth disease, X-linked recessive, 3', 'Appendicitis, proneness to', 'Mental retardation, X-linked 1', 'Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete', 'Chromosome xp11.3 deletion syndrome', 'Keipert syndrome', 'Becker nevus syndrome', 'Cataract, ataxia, short stature, and mental retardation', 'Myopathy, distal, 7, adult-onset, X-linked', 'Hhhh syndrome', 'Spastic paraplegia 2, X-linked', 'Inflammatory bowel disease 13', 'Inflammatory bowel disease 19', 'Torticollis, keloids, cryptorchidism, and renal dysplasia', 'Partington syndrome', 'Dysplasia epiphysealis hemimelica', 'Hirschsprung disease with type D brachydactyly', 'Mental retardation, X-linked 106', 'Epilepsy, X-linked, with variable learning disabilities and behavior disorders', 'Gastric lymphoma, primary', 'Lipoprotein glomerulopathy', 'Tracheoesophageal fistula with or without esophageal atresia', 'Deafness, X-linked 5', 'Follicular lymphoma, susceptibility to, 1', 'Paroxysmal nocturnal hemoglobinuria', 'Nephrolithiasis, type I', 'Retinoschisis 1, X-linked, juvenile', 'Chromosome xp11.23-p11.22 duplication syndrome', 'Celiac disease, epilepsy and cerebral calcification syndrome', 'Mental retardation, X-linked 103', 'Teratocarcinoma-Derived growth factor 1', 'Spastic paraplegia 16, X-linked', 'Woods syndrome', 'Siderius X-linked mental retardation syndrome', 'Mental retardation, X-linked 63', 'Mental retardation, X-linked 84', 'Atrial fibrillation, familial, 5', 'LYMPHANGIOLEIOMYOMATOSIS', 'Breast, unilateral giant', 'Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic', 'Mental retardation, X-linked 93', 'Thumbs, congenital clasped', 'Mental retardation, X-linked 101', 'Keratosis follicularis spinulosa decalvans, X-linked', 'Hydrocephalus, endocardial fibroelastosis, and cataracts', 'Cerebral palsy, spastic quadriplegic, 2', 'Chromosome 10q22.3-q23.2 deletion syndrome', 'Nephrogenic diabetes insipidus - intracranial calcification', 'Cowden syndrome 4', '46XX sex reversal 1', 'Familial scaphocephaly syndrome, Mcgillivray type', 'Mental retardation, X-linked 45', 'Charcot-Marie-Tooth disease, X-linked recessive, 2', 'Facioscapulohumeral muscular dystrophy 3, digenic', 'Mental retardation, X-linked 21', 'Insulinoma tumor suppressor gene locus', 'Sick sinus syndrome 3', 'Maxillonasal dysplasia, Binder type', 'Mental retardation, X-linked 9', 'Hypertrichosis, congenital generalized', 'SCHIZENCEPHALY', 'Autism, susceptibility to, X-linked 4', 'Ciliary dyskinesia, primary, 36, X-linked', 'Cystic fibrosis, modifier of, 1', 'Retinitis pigmentosa, X-linked, and sinorespiratory infections, withor without deafness', 'Hypothyroidism, congenital, nongoitrous, 9', 'Exudative vitreoretinopathy 2, X-linked', 'Reifenstein syndrome', 'Macrodactyly, somatic', 'Metacarpal 4-5 fusion', 'Nance-Horan syndrome', 'Parkinsonism with spasticity, X-linked', 'Mental retardation, X-linked, with or without seizures, arx-related', 'Retinitis pigmentosa 23', 'Atypical mycobacteriosis, familial, X-linked 2', 'Spinocerebellar ataxia, X-linked 5', 'Bazex syndrome', 'Charcot-Marie-Tooth disease, X-linked dominant, 6', 'Spastic paraplegia 34, X-linked', 'Facioscapulohumeral muscular dystrophy 2', 'Immunodeficiency 74, COVID19-related, X-linked', 'Esophageal cancer, somatic', 'Colorectal cancer, susceptibility to, 3', 'Dystonia 3, torsion, X-linked', 'Mental retardation, X-linked 89', 'Mental retardation, X-linked 100', 'Cerebellar degeneration-related autoantigen 3', 'Coats disease', 'Brachydactylous dwarfism, Mseleni type', 'Mental retardation, X-linked 105', 'Myelopathy, htlv-1-associated', 'Chondrosarcoma', 'Chondrosarcoma, extraskeletal myxoid', 'Mental retardation, X-linked 96', 'Intellectual developmental disorder, X-linked 77', 'Norrie disease', 'Osteosarcoma', 'Precocious puberty, central, 2', 'Amelogenesis imperfecta, type IE', 'Prostate cancer/brain cancer susceptibility', 'Arthrogryposis - hyperkeratosis, lethal form', 'Spatial visualization, aptitude for', 'Coxsackievirus B3 susceptibility', 'Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked', 'Premature ovarian failure 2A', 'Tooth agenesis, selective, X-linked, 1', 'Mental retardation, X-linked 81', 'Mental retardation, X-linked 53', 'Mental retardation, X-linked 23', 'Mental retardation, X-linked 46', 'Bornholm eye disease', 'Mental retardation, X-linked 58', 'Deafness, X-linked 7', 'Paget disease, extramammary', 'Autoimmune thyroid disease, susceptibility to, 3', 'Nystagmus, myoclonic', 'Major affective disorder 2', 'Complement component 9 deficiency', 'Melanocytic nevus syndrome, congenital', 'Cognitive function 1, social', 'Motion sickness', 'Premature ovarian failure 6', '46XY sex reversal 3', 'Premature ovarian failure 7', 'Faciomandibular myoclonus, nocturnal', 'Ichthyosis, X-linked', 'X-LINKED intellectual disability, Abidi type', 'Intellectual disability, Wolff type', 'X-LINKED intellectual disability, Shrimpton type', 'Syndromic X-linked intellectual disability 7', 'Facioscapulohumeral muscular dystrophy 4, digenic', 'Radius, aplasia of, with cleft lip/palate', 'Blue cone monochromacy', 'Cone-Rod dystrophy, X-linked, 3', 'Glaucoma - sleep apnea', 'Major depressive disorder', 'Diaphragmatic hernia 3', 'Hernia, anterior diaphragmatic', 'Corneal dystrophy, lisch epithelial', 'Deafness, X-linked 1', '46,xx sex reversal 3', 'Deafness, X-linked 3', 'Goiter, multinodular 2', 'Colorblindness, partial, protan series', 'Ptosis, hereditary congenital 2', 'Macular degeneration, X-linked atrophic', 'Colorblindness, deutan', 'Hypospadias 2, X-linked', 'Hypospadias 1, X-linked', 'Corneal dystrophy, endothelial, X-linked', 'Deafness, X-linked 4', 'Nystagmus 6, congenital, X-linked', 'Deafness, X-linked 6', 'Night blindness, congenital stationary, type 1A', 'Nystagmus 5, congenital, X-linked', 'Azoospermia, obstructive, with nephrolithiasis', 'Deafness, cataract, retinitis pigmentosa, and sperm abnormalities', 'Spermatogenic failure, X-linked 2', 'Myxoid liposarcoma', 'Angioma serpiginosum, X-linked', 'Deafness, X-linked 2', 'Rhabdomyosarcoma 2, alveolar', 'Spermatogenic failure, X-linked, 3', 'MEGALOCORNEA', 'Rhabdomyosarcoma, embryonal, 2', 'Cervical cancer', 'Mesothelioma, malignant', 'Alopecia, androgenetic, 1', 'Ewing sarcoma', 'Histiocytoma, angiomatoid fibrous, somatic', 'Alveolar soft part sarcoma', 'Sarcoma, synovial', 'Nevus comedonicus, somatic', 'Pilomatrixoma, somatic', 'Keratosis, seborrheic, somatic', 'Epidermal nevus, somatic', 'Renal cell carcinoma, xp11-associated', 'Precocious puberty, male', 'Leiomyoma, uterine', 'Vitiligo-Associated multiple autoimmune disease susceptibility 1', 'Preterm premature rupture of the membranes', 'Orofacial cleft 11', 'Macular degeneration, age-related, 11', 'Macular degeneration, age-related, 7', 'Nasopharyngeal carcinoma', 'Focal segmental glomerulosclerosis 4, susceptibility to', 'Preeclampsia/eclampsia 4', 'HAIRY EARS, Y-LINKED', 'Nasopharyngeal carcinoma', 'Hairy nose tip', 'Myopia 9', 'Myopia 8', 'Myopia 10', 'Strabismus, susceptibility to', 'Glaucoma 1, open angle, O', 'Glaucoma 1, open angle, G', 'Emphysema, hereditary pulmonary', 'Pulmonary disease, chronic obstructive', 'Hypertrichosis, anterior cervical', 'RETINITIS PIGMENTOSA, Y-LINKED', 'Basal cell carcinoma, susceptibility to, 1', 'Danubian endemic familial nephropathy', 'Caudal duplication anomaly', 'Testicular microlithiasis', 'Macular degeneration, age-related, 6', 'Familial breast-ovarian cancer-1', 'Natal teeth - intestinal pseudoobstruction - patent ductus', 'Spermatogenic failure 68', 'Microcephaly - albinism - digital anomalies']\n", "\n", "Object names with similarities > threshold or top 10 highest values:\n", "['Lysosomal acid lipase deficiency', 'Interstitial lung and liver disease', 'Hydrops, lactic acidosis, and sideroblastic anemia', 'Bile acid synthesis defect, congenital, 3', 'Triokinase and FMN cyclase deficiency syndrome', 'Mitochondrial DNA depletion syndrome 16 (hepatic type)', 'Galactosemia', 'Immunodeficiency 69, mycobacteriosis', 'Cholestasis, progressive familial intrahepatic, 10', 'Bile acid conjugation defect 1', 'Bile acid synthesis defect, congenital, 1', 'Anemia, congenital dyserythropoietic, type Ia', 'Sea-Blue histiocyte disease', 'Cholestasis, progressive familial intrahepatic, 5', 'Anemia, sideroblastic, 3, pyridoxine-refractory', 'Bile acid synthesis defect, congenital, 2', 'Combined oxidative phosphorylation deficiency 9', 'Bile acid synthesis defect, congenital, 4', 'Combined oxidative phosphorylation deficiency 30', 'Infantile liver failure syndrome 1', 'Tyrosinemia, type I', 'Liver failure, infantile, transient', 'Anemia, dyserythropoietic congenital, type IV', 'Pearson marrow-pancreas syndrome', 'Niemann-Pick disease, type A', 'Citrullinemia, type II, neonatal-onset', 'Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)', 'Mitochondrial complex IV deficiency, nuclear type 4']\n", @@ -555,7 +524,7 @@ }, { "cell_type": "code", - "execution_count": null, + "execution_count": 13, "metadata": {}, "outputs": [ { @@ -600,7 +569,7 @@ }, { "cell_type": "code", - "execution_count": null, + "execution_count": 14, "metadata": {}, "outputs": [ { @@ -650,7 +619,7 @@ }, { "cell_type": "code", - "execution_count": null, + "execution_count": 15, "metadata": {}, "outputs": [], "source": [ @@ -660,7 +629,7 @@ }, { "cell_type": "code", - "execution_count": null, + "execution_count": 16, "metadata": {}, "outputs": [], "source": [ @@ -669,32 +638,162 @@ }, { "cell_type": "code", - "execution_count": null, + "execution_count": 17, "metadata": {}, "outputs": [ { "name": "stdout", "output_type": "stream", "text": [ - "Save the HPO sets as tsv file.\n" + "Save the HPO sets as tsv file.\n", + "Saving differential diagnosis sets similarity result into tsv file.\n", + "There are total of 21 recommended genes and 28 recommended diagnoses.\n", + "Saving gene and disease recommendation similarity result into tsv file.\n" ] }, { - "ename": "OSError", - "evalue": "Cannot save file into a non-existent directory: 'output\\output'", - "output_type": "error", - "traceback": [ - "\u001b[1;31m---------------------------------------------------------------------------\u001b[0m", - "\u001b[1;31mOSError\u001b[0m Traceback (most recent call last)", - "Cell \u001b[1;32mIn[17], line 2\u001b[0m\n\u001b[0;32m 1\u001b[0m \u001b[38;5;28mprint\u001b[39m(\u001b[38;5;124m'\u001b[39m\u001b[38;5;124mSave the HPO sets as tsv file.\u001b[39m\u001b[38;5;124m'\u001b[39m)\n\u001b[1;32m----> 2\u001b[0m \u001b[43mlist2tsv\u001b[49m\u001b[43m(\u001b[49m\u001b[43mhpo_sets\u001b[49m\u001b[43m,\u001b[49m\u001b[43m \u001b[49m\u001b[43mhpo_name\u001b[49m\u001b[43m,\u001b[49m\u001b[43m \u001b[49m\u001b[43mfilename\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[38;5;124;43m'\u001b[39;49m\u001b[38;5;124;43moutput/transformed_hpo_set\u001b[39;49m\u001b[38;5;124;43m'\u001b[39;49m\u001b[43m)\u001b[49m\n\u001b[0;32m 4\u001b[0m \u001b[38;5;28mprint\u001b[39m(\u001b[38;5;124m'\u001b[39m\u001b[38;5;124mSaving differential diagnosis sets similarity result into tsv file.\u001b[39m\u001b[38;5;124m'\u001b[39m)\n\u001b[0;32m 5\u001b[0m list2tsv(sr_dis_id, sr_dis_name, s_sim, filename\u001b[38;5;241m=\u001b[39m\u001b[38;5;124m'\u001b[39m\u001b[38;5;124moutput/differential_diagnosis_similarity\u001b[39m\u001b[38;5;124m'\u001b[39m)\n", - "File \u001b[1;32md:\\Bioinformatics\\iderare-pheno\\iderare_pheno\\utils.py:22\u001b[0m, in \u001b[0;36mlist2tsv\u001b[1;34m(term_id, name, sim_score, filename)\u001b[0m\n\u001b[0;32m 20\u001b[0m data \u001b[38;5;241m=\u001b[39m {\u001b[38;5;124m\"\u001b[39m\u001b[38;5;124mrank\u001b[39m\u001b[38;5;124m\"\u001b[39m: rank, \u001b[38;5;124m\"\u001b[39m\u001b[38;5;124mid\u001b[39m\u001b[38;5;124m\"\u001b[39m: term_id, \u001b[38;5;124m\"\u001b[39m\u001b[38;5;124mname\u001b[39m\u001b[38;5;124m\"\u001b[39m: name, \u001b[38;5;124m\"\u001b[39m\u001b[38;5;124mscore\u001b[39m\u001b[38;5;124m\"\u001b[39m: sim_score}\n\u001b[0;32m 21\u001b[0m df \u001b[38;5;241m=\u001b[39m pd\u001b[38;5;241m.\u001b[39mDataFrame(data)\n\u001b[1;32m---> 22\u001b[0m \u001b[43mdf\u001b[49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43mto_csv\u001b[49m\u001b[43m(\u001b[49m\u001b[38;5;124;43m\"\u001b[39;49m\u001b[38;5;124;43moutput/\u001b[39;49m\u001b[38;5;132;43;01m{}\u001b[39;49;00m\u001b[38;5;124;43m.tsv\u001b[39;49m\u001b[38;5;124;43m\"\u001b[39;49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43mformat\u001b[49m\u001b[43m(\u001b[49m\u001b[43mfilename\u001b[49m\u001b[43m)\u001b[49m\u001b[43m,\u001b[49m\u001b[43m \u001b[49m\u001b[43mindex\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[38;5;28;43;01mFalse\u001b[39;49;00m\u001b[43m,\u001b[49m\u001b[43m \u001b[49m\u001b[43msep\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[38;5;124;43m\"\u001b[39;49m\u001b[38;5;130;43;01m\\t\u001b[39;49;00m\u001b[38;5;124;43m\"\u001b[39;49m\u001b[43m)\u001b[49m\n\u001b[0;32m 23\u001b[0m \u001b[38;5;28;01mreturn\u001b[39;00m df\n", - "File \u001b[1;32mc:\\Users\\Ivan-RTX2080\\.conda\\envs\\iderare-pheno\\lib\\site-packages\\pandas\\core\\generic.py:3772\u001b[0m, in \u001b[0;36mNDFrame.to_csv\u001b[1;34m(self, path_or_buf, sep, na_rep, float_format, columns, header, index, index_label, mode, encoding, compression, quoting, quotechar, lineterminator, chunksize, date_format, doublequote, escapechar, decimal, errors, storage_options)\u001b[0m\n\u001b[0;32m 3761\u001b[0m df \u001b[38;5;241m=\u001b[39m \u001b[38;5;28mself\u001b[39m \u001b[38;5;28;01mif\u001b[39;00m \u001b[38;5;28misinstance\u001b[39m(\u001b[38;5;28mself\u001b[39m, ABCDataFrame) \u001b[38;5;28;01melse\u001b[39;00m \u001b[38;5;28mself\u001b[39m\u001b[38;5;241m.\u001b[39mto_frame()\n\u001b[0;32m 3763\u001b[0m formatter \u001b[38;5;241m=\u001b[39m DataFrameFormatter(\n\u001b[0;32m 3764\u001b[0m frame\u001b[38;5;241m=\u001b[39mdf,\n\u001b[0;32m 3765\u001b[0m header\u001b[38;5;241m=\u001b[39mheader,\n\u001b[1;32m (...)\u001b[0m\n\u001b[0;32m 3769\u001b[0m decimal\u001b[38;5;241m=\u001b[39mdecimal,\n\u001b[0;32m 3770\u001b[0m )\n\u001b[1;32m-> 3772\u001b[0m \u001b[38;5;28;01mreturn\u001b[39;00m \u001b[43mDataFrameRenderer\u001b[49m\u001b[43m(\u001b[49m\u001b[43mformatter\u001b[49m\u001b[43m)\u001b[49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43mto_csv\u001b[49m\u001b[43m(\u001b[49m\n\u001b[0;32m 3773\u001b[0m \u001b[43m \u001b[49m\u001b[43mpath_or_buf\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 3774\u001b[0m \u001b[43m \u001b[49m\u001b[43mlineterminator\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[43mlineterminator\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 3775\u001b[0m \u001b[43m \u001b[49m\u001b[43msep\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[43msep\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 3776\u001b[0m \u001b[43m \u001b[49m\u001b[43mencoding\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[43mencoding\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 3777\u001b[0m \u001b[43m \u001b[49m\u001b[43merrors\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[43merrors\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 3778\u001b[0m \u001b[43m \u001b[49m\u001b[43mcompression\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[43mcompression\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 3779\u001b[0m \u001b[43m \u001b[49m\u001b[43mquoting\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[43mquoting\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 3780\u001b[0m \u001b[43m \u001b[49m\u001b[43mcolumns\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[43mcolumns\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 3781\u001b[0m \u001b[43m \u001b[49m\u001b[43mindex_label\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[43mindex_label\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 3782\u001b[0m \u001b[43m \u001b[49m\u001b[43mmode\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[43mmode\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 3783\u001b[0m \u001b[43m \u001b[49m\u001b[43mchunksize\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[43mchunksize\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 3784\u001b[0m \u001b[43m \u001b[49m\u001b[43mquotechar\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[43mquotechar\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 3785\u001b[0m \u001b[43m \u001b[49m\u001b[43mdate_format\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[43mdate_format\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 3786\u001b[0m \u001b[43m \u001b[49m\u001b[43mdoublequote\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[43mdoublequote\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 3787\u001b[0m \u001b[43m \u001b[49m\u001b[43mescapechar\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[43mescapechar\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 3788\u001b[0m \u001b[43m \u001b[49m\u001b[43mstorage_options\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[43mstorage_options\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 3789\u001b[0m \u001b[43m\u001b[49m\u001b[43m)\u001b[49m\n", - "File \u001b[1;32mc:\\Users\\Ivan-RTX2080\\.conda\\envs\\iderare-pheno\\lib\\site-packages\\pandas\\io\\formats\\format.py:1186\u001b[0m, in \u001b[0;36mDataFrameRenderer.to_csv\u001b[1;34m(self, path_or_buf, encoding, sep, columns, index_label, mode, compression, quoting, quotechar, lineterminator, chunksize, date_format, doublequote, escapechar, errors, storage_options)\u001b[0m\n\u001b[0;32m 1165\u001b[0m created_buffer \u001b[38;5;241m=\u001b[39m \u001b[38;5;28;01mFalse\u001b[39;00m\n\u001b[0;32m 1167\u001b[0m csv_formatter \u001b[38;5;241m=\u001b[39m CSVFormatter(\n\u001b[0;32m 1168\u001b[0m path_or_buf\u001b[38;5;241m=\u001b[39mpath_or_buf,\n\u001b[0;32m 1169\u001b[0m lineterminator\u001b[38;5;241m=\u001b[39mlineterminator,\n\u001b[1;32m (...)\u001b[0m\n\u001b[0;32m 1184\u001b[0m formatter\u001b[38;5;241m=\u001b[39m\u001b[38;5;28mself\u001b[39m\u001b[38;5;241m.\u001b[39mfmt,\n\u001b[0;32m 1185\u001b[0m )\n\u001b[1;32m-> 1186\u001b[0m \u001b[43mcsv_formatter\u001b[49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43msave\u001b[49m\u001b[43m(\u001b[49m\u001b[43m)\u001b[49m\n\u001b[0;32m 1188\u001b[0m \u001b[38;5;28;01mif\u001b[39;00m created_buffer:\n\u001b[0;32m 1189\u001b[0m \u001b[38;5;28;01massert\u001b[39;00m \u001b[38;5;28misinstance\u001b[39m(path_or_buf, StringIO)\n", - "File \u001b[1;32mc:\\Users\\Ivan-RTX2080\\.conda\\envs\\iderare-pheno\\lib\\site-packages\\pandas\\io\\formats\\csvs.py:240\u001b[0m, in \u001b[0;36mCSVFormatter.save\u001b[1;34m(self)\u001b[0m\n\u001b[0;32m 236\u001b[0m \u001b[38;5;250m\u001b[39m\u001b[38;5;124;03m\"\"\"\u001b[39;00m\n\u001b[0;32m 237\u001b[0m \u001b[38;5;124;03mCreate the writer & save.\u001b[39;00m\n\u001b[0;32m 238\u001b[0m \u001b[38;5;124;03m\"\"\"\u001b[39;00m\n\u001b[0;32m 239\u001b[0m \u001b[38;5;66;03m# apply compression and byte/text conversion\u001b[39;00m\n\u001b[1;32m--> 240\u001b[0m \u001b[38;5;28;01mwith\u001b[39;00m \u001b[43mget_handle\u001b[49m\u001b[43m(\u001b[49m\n\u001b[0;32m 241\u001b[0m \u001b[43m \u001b[49m\u001b[38;5;28;43mself\u001b[39;49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43mfilepath_or_buffer\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 242\u001b[0m \u001b[43m \u001b[49m\u001b[38;5;28;43mself\u001b[39;49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43mmode\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 243\u001b[0m \u001b[43m \u001b[49m\u001b[43mencoding\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[38;5;28;43mself\u001b[39;49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43mencoding\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 244\u001b[0m \u001b[43m \u001b[49m\u001b[43merrors\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[38;5;28;43mself\u001b[39;49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43merrors\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 245\u001b[0m \u001b[43m \u001b[49m\u001b[43mcompression\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[38;5;28;43mself\u001b[39;49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43mcompression\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 246\u001b[0m \u001b[43m \u001b[49m\u001b[43mstorage_options\u001b[49m\u001b[38;5;241;43m=\u001b[39;49m\u001b[38;5;28;43mself\u001b[39;49m\u001b[38;5;241;43m.\u001b[39;49m\u001b[43mstorage_options\u001b[49m\u001b[43m,\u001b[49m\n\u001b[0;32m 247\u001b[0m \u001b[43m\u001b[49m\u001b[43m)\u001b[49m \u001b[38;5;28;01mas\u001b[39;00m handles:\n\u001b[0;32m 248\u001b[0m \u001b[38;5;66;03m# Note: self.encoding is irrelevant here\u001b[39;00m\n\u001b[0;32m 249\u001b[0m \u001b[38;5;28mself\u001b[39m\u001b[38;5;241m.\u001b[39mwriter \u001b[38;5;241m=\u001b[39m csvlib\u001b[38;5;241m.\u001b[39mwriter(\n\u001b[0;32m 250\u001b[0m handles\u001b[38;5;241m.\u001b[39mhandle,\n\u001b[0;32m 251\u001b[0m lineterminator\u001b[38;5;241m=\u001b[39m\u001b[38;5;28mself\u001b[39m\u001b[38;5;241m.\u001b[39mlineterminator,\n\u001b[1;32m (...)\u001b[0m\n\u001b[0;32m 256\u001b[0m quotechar\u001b[38;5;241m=\u001b[39m\u001b[38;5;28mself\u001b[39m\u001b[38;5;241m.\u001b[39mquotechar,\n\u001b[0;32m 257\u001b[0m )\n\u001b[0;32m 259\u001b[0m \u001b[38;5;28mself\u001b[39m\u001b[38;5;241m.\u001b[39m_save()\n", - "File \u001b[1;32mc:\\Users\\Ivan-RTX2080\\.conda\\envs\\iderare-pheno\\lib\\site-packages\\pandas\\io\\common.py:737\u001b[0m, in \u001b[0;36mget_handle\u001b[1;34m(path_or_buf, mode, encoding, compression, memory_map, is_text, errors, storage_options)\u001b[0m\n\u001b[0;32m 735\u001b[0m \u001b[38;5;66;03m# Only for write methods\u001b[39;00m\n\u001b[0;32m 736\u001b[0m \u001b[38;5;28;01mif\u001b[39;00m \u001b[38;5;124m\"\u001b[39m\u001b[38;5;124mr\u001b[39m\u001b[38;5;124m\"\u001b[39m \u001b[38;5;129;01mnot\u001b[39;00m \u001b[38;5;129;01min\u001b[39;00m mode \u001b[38;5;129;01mand\u001b[39;00m is_path:\n\u001b[1;32m--> 737\u001b[0m \u001b[43mcheck_parent_directory\u001b[49m\u001b[43m(\u001b[49m\u001b[38;5;28;43mstr\u001b[39;49m\u001b[43m(\u001b[49m\u001b[43mhandle\u001b[49m\u001b[43m)\u001b[49m\u001b[43m)\u001b[49m\n\u001b[0;32m 739\u001b[0m \u001b[38;5;28;01mif\u001b[39;00m compression:\n\u001b[0;32m 740\u001b[0m \u001b[38;5;28;01mif\u001b[39;00m compression \u001b[38;5;241m!=\u001b[39m \u001b[38;5;124m\"\u001b[39m\u001b[38;5;124mzstd\u001b[39m\u001b[38;5;124m\"\u001b[39m:\n\u001b[0;32m 741\u001b[0m \u001b[38;5;66;03m# compression libraries do not like an explicit text-mode\u001b[39;00m\n", - "File 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rankidnamescore
01278000Lysosomal acid lipase deficiency0.559923
12615486Interstitial lung and liver disease0.489047
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...............
81998200613757Macular degeneration, age-related, 60.000030
82008201613399Familial breast-ovarian cancer-10.000028
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" + ], + "text/plain": [ + " rank id name \\\n", + "0 1 278000 Lysosomal acid lipase deficiency \n", + "1 2 615486 Interstitial lung and liver disease \n", + "2 3 617021 Hydrops, lactic acidosis, and sideroblastic an... \n", + "3 4 613812 Bile acid synthesis defect, congenital, 3 \n", + "4 5 618805 Triokinase and FMN cyclase deficiency syndrome \n", + "... ... ... ... \n", + "8199 8200 613757 Macular degeneration, age-related, 6 \n", + "8200 8201 613399 Familial breast-ovarian cancer-1 \n", + "8201 8202 243185 Natal teeth - intestinal pseudoobstruction - p... \n", + "8202 8203 619805 Spermatogenic failure 68 \n", + "8203 8204 203340 Microcephaly - albinism - digital anomalies \n", + "\n", + " score \n", + "0 0.559923 \n", + "1 0.489047 \n", + "2 0.486714 \n", + "3 0.470447 \n", + "4 0.466811 \n", + "... ... \n", + "8199 0.000030 \n", + "8200 0.000028 \n", + "8201 0.000028 \n", + "8202 0.000027 \n", + "8203 0.000019 \n", + "\n", + "[8204 rows x 4 columns]" + ] + }, + "execution_count": 17, + "metadata": {}, + "output_type": "execute_result" } ], "source": [ @@ -709,6 +808,33 @@ "list2tsv(rg_sr_dis_id, rg_sr_dis_name, rg_s_sim, filename='output/recommended_gene_similarity')\n", "list2tsv(rd_sr_dis_id, rd_sr_dis_name, rd_s_sim, filename='output/recommended_disease_similarity')\n" ] + }, + { + "cell_type": "markdown", + "metadata": {}, + "source": [ + "##### Saving the iderare.yml file as template for genotype analysis :\n", + "```generate_yml``` function will get tthe **phenotype hpo sets** and convert it to yml file as template for genotype analysis. The yml file will be saved in the ```output``` folder." + ] + }, + { + "cell_type": "code", + "execution_count": 19, + "metadata": {}, + "outputs": [ + { + "name": "stdout", + "output_type": "stream", + "text": [ + "File output/iderare.yml has been created.\n" + ] + } + ], + "source": [ + "from iderare_pheno.utils import generate_yml\n", + "\n", + "generate_yml(hpo_sets, filename='output/iderare.yml')" + ] } ], "metadata": { diff --git a/iderare_pheno/utils.py b/iderare_pheno/utils.py index 7c19890..6e18c3a 100644 --- a/iderare_pheno/utils.py +++ b/iderare_pheno/utils.py @@ -3,8 +3,22 @@ import pandas as pd import scipy.cluster +import yaml from matplotlib import pyplot as plt +iderare_template = os.path.join(os.path.dirname(__file__), "templates", "template_iderare.yml") + + +# Fill template_iderare.yml with the given phenotype +def generate_yml(hpo_sets, filename="iderare.yml"): + with open(iderare_template, "r") as f: + y = yaml.safe_load(f) + y["analysis"]["hpo_ids"] = hpo_sets + + with open(filename, "w+") as o: + yaml.dump(y, o, default_flow_style=False, sort_keys=False) + print("File {} has been created.".format(filename)) + # Convert data(s) to dataframe def list2tsv( diff --git a/iderare_pheno/version.py b/iderare_pheno/version.py index 5fbb411..eca97dc 100644 --- a/iderare_pheno/version.py +++ b/iderare_pheno/version.py @@ -1,8 +1,8 @@ _MAJOR = "0" -_MINOR = "3" +_MINOR = "4" # On main and in a nightly release the patch should be one ahead of the last # released build. -_PATCH = "5" +_PATCH = "0" # This is mainly for nightly builds which have the suffix ".dev$DATE". See # https://semver.org/#is-v123-a-semantic-version for the semantics. _SUFFIX = "" diff --git a/output/differential_diagnosis_similarity.tsv b/output/differential_diagnosis_similarity.tsv new file mode 100644 index 0000000..f88c767 --- /dev/null +++ b/output/differential_diagnosis_similarity.tsv @@ -0,0 +1,38 @@ +rank id name score +1 227810 Fanconi-Bickel syndrome 0.3851177990436554 +2 611881 Glycogen storage disease XII 0.3723735809326172 +3 603902 Thalassemia-beta, dominant inclusion-body 0.3528570234775543 +4 232500 Glycogen storage disease IV 0.3311641216278076 +5 613027 Glycogen storage disease IXc 0.3222183883190155 +6 232700 Glycogen storage disease VI 0.32113826274871826 +7 615895 Polyglucosan body myopathy 1 with or without immunodeficiency 0.3190052807331085 +8 610539 Gaucher disease, atypical 0.3134368658065796 +9 230800 Gaucher disease, type I 0.2948063015937805 +10 257220 Niemann-pick disease, type C1 0.2887139916419983 +11 231000 Gaucher disease, type III 0.28795626759529114 +12 232200 Glycogen storage disease Ia 0.2799232304096222 +13 230900 Gaucher disease, type II 0.2669340968132019 +14 608013 Gaucher disease, perinatal lethal 0.2648431360721588 +15 261750 Glycogen storage disease type IXb 0.25858327746391296 +16 232220 Glycogen storage disease Ib 0.25592923164367676 +17 607625 Niemann-pick disease, type C2 0.2328203171491623 +18 232800 Glycogen storage disease VII 0.21963520348072052 +19 232240 Glycogen storage disease Ic 0.21480496227741241 +20 306000 Glycogen storage disease, type IXa1 0.2114570587873459 +21 231005 Gaucher disease, type IIIC 0.19200804829597473 +22 240600 Glycogen storage disease 0, liver 0.18373343348503113 +23 232300 Glycogen storage disease II 0.17807894945144653 +24 232400 Glycogen storage disease III 0.17743338644504547 +25 612933 Glycogen storage disease XI 0.16075573861598969 +26 612932 Glycogen storage disease XIII 0.12607280910015106 +27 232600 Glycogen storage disease V 0.11939386278390884 +28 263570 Polyglucosan body neuropathy, adult form 0.11525966227054596 +29 261670 Phosphoglycerate mutase, muscle, deficiency of 0.10096176713705063 +30 611556 Glycogen storage disease 0, muscle 0.10010755807161331 +31 613507 Glycogen storage disease XV 0.08989541977643967 +32 300653 Phosphoglycerate kinase 1 deficiency 0.08972006291151047 +33 616199 Polyglucosan body myopathy 2 0.08133861422538757 +34 614128 Lactate dehydrogenase B deficiency 0.07455503195524216 +35 613985 BETA-THALASSEMIA 0.07443328201770782 +36 300257 Danon disease 0.06328766793012619 +37 300559 Muscle glycogenosis, X-linked 0.06328236311674118 diff --git a/output/iderare.yml b/output/iderare.yml new file mode 100644 index 0000000..be003e7 --- /dev/null +++ b/output/iderare.yml @@ -0,0 +1,51 @@ +analysis: + data_dir: null + proband: null + mother: null + father: null + proband_gender: null + proband_phen: null + mother_phen: null + father_phen: null + hpo_ids: + - HP:0000007 + - HP:0001433 + - HP:0001903 + - HP:0001541 + - HP:0010972 + - HP:0005561 + - HP:0001396 + - HP:0001410 + - HP:0002910 + - HP:0001399 + - HP:0000938 + - HP:0001642 + - HP:0200114 + - HP:0003073 + - HP:0003233 + - HP:0001873 + - HP:0002151 + - HP:0031964 + - HP:0031956 + - HP:0002366 + - HP:0006568 + - HP:0004333 + - HP:0001531 + library: null + method: null +setup: + dv_version: null + glnexus_version: null + tiddit_version: null + dv_model: null + max_mem: null + ref_dir: null + ref_fasta: null + snpEff_dir: null + snpEff_ver: null + exomiser_dir: null + exomiser_data_ver: null + dbNSFP_file: null + dbSNP_file: null + ClinVar_file: null + chr_rename: null diff --git a/output/recommended_disease_similarity.tsv b/output/recommended_disease_similarity.tsv new file mode 100644 index 0000000..215734e --- /dev/null +++ b/output/recommended_disease_similarity.tsv @@ -0,0 +1,8205 @@ +rank id name score +1 278000 Lysosomal acid lipase deficiency 0.5599225759506226 +2 615486 Interstitial lung and liver disease 0.4890473783016205 +3 617021 Hydrops, lactic acidosis, and sideroblastic anemia 0.48671433329582214 +4 613812 Bile acid synthesis defect, congenital, 3 0.4704473614692688 +5 618805 Triokinase and FMN cyclase deficiency syndrome 0.4668107032775879 +6 618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) 0.46431052684783936 +7 230400 Galactosemia 0.45390620827674866 +8 618963 Immunodeficiency 69, mycobacteriosis 0.4535622000694275 +9 619868 Cholestasis, progressive familial intrahepatic, 10 0.44949522614479065 +10 619232 Bile acid conjugation defect 1 0.44419944286346436 +11 607765 Bile acid synthesis defect, congenital, 1 0.43773147463798523 +12 224120 Anemia, congenital dyserythropoietic, type Ia 0.43526095151901245 +13 269600 Sea-Blue histiocyte disease 0.43307697772979736 +14 617049 Cholestasis, progressive familial intrahepatic, 5 0.43000856041908264 +15 616860 Anemia, sideroblastic, 3, pyridoxine-refractory 0.42621397972106934 +16 235555 Bile acid synthesis defect, congenital, 2 0.4237859547138214 +17 614582 Combined oxidative phosphorylation deficiency 9 0.42159712314605713 +18 214950 Bile acid synthesis defect, congenital, 4 0.42009657621383667 +19 616974 Combined oxidative phosphorylation deficiency 30 0.41576626896858215 +20 615438 Infantile liver failure syndrome 1 0.41304105520248413 +21 276700 Tyrosinemia, type I 0.41171979904174805 +22 613070 Liver failure, infantile, transient 0.41016846895217896 +23 613673 Anemia, dyserythropoietic congenital, type IV 0.4099408686161041 +24 557000 Pearson marrow-pancreas syndrome 0.4094041585922241 +25 257200 Niemann-Pick disease, type A 0.4079717993736267 +26 605814 Citrullinemia, type II, neonatal-onset 0.4067101776599884 +27 251880 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 0.4037098288536072 +28 619048 Mitochondrial complex IV deficiency, nuclear type 4 0.4003438353538513 +29 615285 Neutropenia, severe congenital, 5, autosomal recessive 0.39925605058670044 +30 210250 Sitosterolemia 1 0.39765167236328125 +31 611590 Renal tubular acidosis, distal, with hemolytic anemia 0.3948104977607727 +32 607616 Niemann-pick disease, type B 0.394723504781723 +33 606054 Propionic acidemia 0.3940402567386627 +34 617156 Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) 0.39031127095222473 +35 617394 Sclerosing cholangitis, neonatal 0.388467937707901 +36 617872 Combined oxidative phosphorylation deficiency 34 0.387615442276001 +37 602347 Cholestasis, progressive familial intrahepatic, 3 0.3854380249977112 +38 227810 Fanconi-Bickel syndrome 0.3851177990436554 +39 620010 Cholestasis, progressive familial intrahepatic, 12 0.3807627260684967 +40 251110 Methylmalonic aciduria, vitamin B12-responsive, cblB type 0.3803766965866089 +41 620151 Wolman disease 0.3796180784702301 +42 612840 Leukocyte adhesion deficiency, type III 0.379427045583725 +43 616278 Bile acid synthesis defect, congenital, 5 0.37920573353767395 +44 615158 Mitochondrial complex III deficiency, nuclear type 3 0.3773863613605499 +45 226990 Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive 0.37469425797462463 +46 602579 Congenital disorder of glycosylation, type Ib 0.3746475279331207 +47 615085 Osteopetrosis, autosomal recessive 8 0.3730545938014984 +48 618775 Mitochondrial complex III deficiency, nuclear type 10 0.3725382089614868 +49 611881 Glycogen storage disease XII 0.3723735809326172 +50 267700 Hemophagocytic lymphohistiocytosis, familial, 1 0.3711821734905243 +51 209950 Immunodeficiency 27A, mycobacteriosis, AR 0.3710598051548004 +52 603554 Omenn syndrome 0.3709949553012848 +53 608104 Congenital disorder of glycosylation, type Ih 0.3686904013156891 +54 606003 Transaldolase deficiency 0.3677029609680176 +55 237800 Hyperbilirubinemia, shunt, primary 0.36770129203796387 +56 619573 Immunodeficiency 87 and autoimmunity 0.36702507734298706 +57 620454 Congenital disorder of glycosylation, type IIaa 0.3652431070804596 +58 617093 Growth retardation, impaired intellectual development, hypotonia, and hepatopathy 0.3651721775531769 +59 614034 Heme oxygenase-1 deficiency 0.3649185597896576 +60 277900 Wilson disease 0.3635006844997406 +61 615631 Anemia, congenital dyserythropoietic, type Ib 0.3607885241508484 +62 617441 Thrombocytopenia, anemia, and myelofibrosis 0.3573826551437378 +63 256810 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 0.3568592369556427 +64 258900 Orotic aciduria 0.35623225569725037 +65 619662 Cholestasis, progressive familial intrahepatic, 8 0.3560301661491394 +66 231100 Hemochromatosis, neonatal 0.3558483123779297 +67 615595 Combined oxidative phosphorylation deficiency 19 0.35511937737464905 +68 105600 Anemia, dyserythropoietic congenital, type III 0.35503366589546204 +69 616828 Congenital disorder of glycosylation, type IIO 0.35496464371681213 +70 615395 Combined oxidative phosphorylation deficiency 16 0.3533852696418762 +71 603902 Thalassemia-beta, dominant inclusion-body 0.3528570234775543 +72 261680 Phosphoenolpyruvate carboxykinase deficiency, cytosolic 0.35122594237327576 +73 619377 Osteootohepatoenteric syndrome 0.35087862610816956 +74 616050 Autoinflammation with infantile enterocolitis 0.35016271471977234 +75 133180 Erythroleukemia, familial, susceptibility to 0.34968727827072144 +76 614727 Congenital disorder of glycosylation, type IIK 0.3490096926689148 +77 226300 Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 0.3489270508289337 +78 211600 Cholestasis, progressive familial intrahepatic 1 0.34888797998428345 +79 614480 Hypertriglyceridemia, transient infantile 0.3466557264328003 +80 187800 Bleeding disorder, platelet-type, 16 0.3461976647377014 +81 613845 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 0.34590476751327515 +82 246400 Letterer-Siwe disease 0.3455020487308502 +83 612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis 0.3446880877017975 +84 615234 Anemia, hypochromic microcytic, with iron overload 2 0.34380823373794556 +85 603553 Hemophagocytic lymphohistiocytosis, familial, 2 0.34368690848350525 +86 251100 Methylmalonic aciduria, vitamin B12-responsive, cblA type 0.34273141622543335 +87 616689 Dehydrated hereditary stomatocytosis 2 0.34244775772094727 +88 245900 Lecithin:cholesterol acyltransferase deficiency 0.34206587076187134 +89 619658 Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 0.341773122549057 +90 300972 Immunodeficiency 47 0.3417249917984009 +91 231095 Ghosal hematodiaphyseal dysplasia 0.3409663438796997 +92 603552 Hemophagocytic lymphohistiocytosis, familial, 4 0.3400992155075073 +93 612690 Spherocytosis, type 5 0.33964717388153076 +94 235700 Hemolytic anemia, nonspherocytic, due to hexokinase deficiency 0.33909767866134644 +95 300835 Anemia, X-linked, with or without neutropenia and/or platelet abnormalities 0.33755189180374146 +96 222700 Lysinuric protein intolerance 0.3375377953052521 +97 613658 Rajab interstitial lung disease with brain calcifications 0.3340408504009247 +98 613101 Hemophagocytic lymphohistiocytosis, familial, 5 0.3339753746986389 +99 232500 Glycogen storage disease IV 0.3311641216278076 +100 605911 HMG-CoA synthase-2 deficiency 0.3305200934410095 +101 615558 Hypobetalipoproteinemia, familial, 1 0.33015555143356323 +102 618234 Mitochondrial complex I deficiency, nuclear type 11 0.32970547676086426 +103 259700 Osteopetrosis, autosomal recessive 1 0.326360285282135 +104 618839 Combined oxidative phosphorylation deficiency 42 0.32489410042762756 +105 618835 Combined oxidative phosphorylation deficiency 40 0.32431864738464355 +106 611490 Osteopetrosis, autosomal recessive 4 0.32417044043540955 +107 600803 Gallbladder disease 1 0.32311636209487915 +108 214900 Cholestasis-Lymphedema syndrome 0.3227677047252655 +109 231900 Hemolytic anemia due to glutathione synthetase deficiency 0.3226306140422821 +110 614924 Combined oxidative phosphorylation deficiency 12 0.3224153220653534 +111 224100 Anemia, dyserythropoietic congenital, type II 0.3223017454147339 +112 613027 Glycogen storage disease IXc 0.3222183883190155 +113 619484 Cholestasis, progressive familial intrahepatic, 6 0.32206395268440247 +114 615453 Mitochondrial complex III deficiency, nuclear type 6 0.3218081295490265 +115 312500 Reticuloendotheliosis, X-linked 0.32176366448402405 +116 232700 Glycogen storage disease VI 0.32113826274871826 +117 609628 Majeed syndrome 0.3208899199962616 +118 619386 Combined oxidative phosphorylation deficiency 52 0.32016614079475403 +119 617591 Proteasome-Associated autoinflammatory syndrome 3 0.31992554664611816 +120 616829 Congenital disorder of glycosylation, type IIP 0.3190242648124695 +121 615895 Polyglucosan body myopathy 1 with or without immunodeficiency 0.3190052807331085 +122 603278 Focal segmental glomerulosclerosis 1 0.3180854022502899 +123 601847 Cholestasis, progressive familial intrahepatic 2 0.3178284764289856 +124 616176 Bleeding 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+139 619463 Portal hypertension, noncirrhotic, 2 0.31143951416015625 +140 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency 0.31138792634010315 +141 177000 Protoporphyria, erythropoietic, 1 0.3107231557369232 +142 170100 Prolidase deficiency 0.31059613823890686 +143 246450 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency 0.3103599548339844 +144 614300 Hypermethioninemia due to adenosine kinase deficiency 0.3098229765892029 +145 613752 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 0.309663325548172 +146 619041 Monosomy 7 myelodysplasia and leukemia syndrome 2 0.30913224816322327 +147 263300 Polycythemia vera 0.3083391487598419 +148 615758 Immunodeficiency 22 0.30813172459602356 +149 617243 Fanconi anemia, complementation group V 0.3079257011413574 +150 259720 Osteopetrosis, autosomal recessive 5 0.3066245913505554 +151 124000 Mitochondrial complex III deficiency, nuclear type 1 0.30619925260543823 +152 613759 Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 0.3058066964149475 +153 614972 Cholestasis, intrahepatic, of pregnancy 3 0.30510783195495605 +154 616433 Immunodeficiency 40 0.3050558865070343 +155 618641 Infantile liver failure syndrome 3 0.3048376441001892 +156 255120 Carnitine palmitoyltransferase I deficiency 0.30464690923690796 +157 207900 Argininosuccinic aciduria 0.30456024408340454 +158 613011 Lymphoproliferative syndrome 1 0.3035423755645752 +159 613313 Hemochromatosis, type 2B 0.30305159091949463 +160 616937 Thrombocytopenia 6 0.30294451117515564 +161 243500 Isovaleric acidemia 0.30263084173202515 +162 604416 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne 0.3019763231277466 +163 206100 Anemia, hypochromic microcytic, with iron overload 1 0.3016303479671478 +164 616649 Spherocytosis, type 2 0.3012593984603882 +165 273680 Thanatophoric dysplasia, glasgow variant 0.30119770765304565 +166 618329 Combined oxidative phosphorylation deficiency 37 0.30034247040748596 +167 620357 Diarrhea 13 0.3003041446208954 +168 229600 Fructose intolerance, hereditary 0.3002881705760956 +169 611126 Mitochondrial complex I deficiency, nuclear type 20 0.30016258358955383 +170 619418 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2 0.2998175621032715 +171 619858 Autoinflammatory-pancytopenia syndrome 0.2996158301830292 +172 615160 Mitochondrial complex III deficiency, nuclear type 5 0.299497127532959 +173 613977 Cyanosis, transient neonatal 0.29926809668540955 +174 620365 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 0.2984433174133301 +175 614946 Combined oxidative phosphorylation deficiency 14 0.298159658908844 +176 208085 Arthrogryposis, renal dysfunction, and cholestasis 1 0.2980881929397583 +177 616026 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 0.2974265217781067 +178 259710 Osteopetrosis, autosomal recessive 2 0.29715636372566223 +179 185000 Overhydrated hereditary stomatocytosis 0.2968887388706207 +180 212140 Carnitine deficiency, systemic primary 0.2964996099472046 +181 606812 Fumarase deficiency 0.2961040735244751 +182 620364 Combined low LDL and fibrinogen 0.2950384318828583 +183 230800 Gaucher disease, type I 0.2948063015937805 +184 618107 Osteopetrosis, autosomal dominant 3 0.29456692934036255 +185 606069 Hemochromatosis, type 4 0.2943809926509857 +186 611804 Elliptocytosis 1 0.2943023145198822 +187 277700 Werner syndrome 0.2940305769443512 +188 266200 Pyruvate kinase deficiency of red cells 0.2940252423286438 +189 610198 3-methylglutaconic aciduria, type V 0.2938438653945923 +190 608898 Hemophagocytic lymphohistiocytosis, familial, 3 0.293590247631073 +191 610377 Mevalonic aciduria 0.2929685115814209 +192 617780 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 0.29253268241882324 +193 239200 Hyperparathyroidism, neonatal severe 0.29225531220436096 +194 619433 Cardiomyopathy, familial restrictive, 6 0.2913776636123657 +195 619046 Mitochondrial complex IV deficiency, nuclear type 3 0.2910350561141968 +196 274150 Thrombotic thrombocytopenic purpura, hereditary 0.2907601594924927 +197 205950 Anemia, sideroblastic, 2, pyridoxine-refractory 0.2906150817871094 +198 308240 Lymphoproliferative syndrome, X-linked, 1 0.2905291020870209 +199 220110 Mitochondrial complex IV deficiency, nuclear type 1 0.290393203496933 +200 209300 ATRANSFERRINEMIA 0.2900913655757904 +201 139090 Gray platelet syndrome 0.2892201840877533 +202 257220 Niemann-pick disease, type C1 0.2887139916419983 +203 619644 Immunodeficiency 91 and hyperinflammation 0.28858834505081177 +204 231000 Gaucher disease, type III 0.28795626759529114 +205 194380 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 0.2876223027706146 +206 603529 Dyserythropoiesis, congenital, with ultrastructurally normal erythroblastheterochromatin 0.28757694363594055 +207 182900 Spherocytosis, type 1 0.28757601976394653 +208 619991 Liver disease, severe congenital 0.28719040751457214 +209 619523 Anemia, sideroblastic, 5 0.28681474924087524 +210 275350 Transcobalamin II deficiency 0.28669291734695435 +211 185070 Stormorken syndrome 0.2866741716861725 +212 121270 Copper deficiency, familial benign 0.2865216135978699 +213 617253 Seckel syndrome 10 0.2863498628139496 +214 612653 Spherocytosis, type 4 0.28620272874832153 +215 618838 Combined oxidative phosphorylation deficiency 41 0.28569886088371277 +216 615517 Hemochromatosis, type 5 0.28537312150001526 +217 222470 Trichohepatoenteric syndrome 1 0.28506210446357727 +218 301068 Hardikar syndrome 0.28479501605033875 +219 203700 Mitochondrial DNA depletion syndrome 4A (Alpers type) 0.28351137042045593 +220 618852 Autoinflammation with episodic fever and lymphadenopathy 0.28328076004981995 +221 147480 Cholestasis, intrahepatic, of pregnancy, 1 0.28269195556640625 +222 619849 Cholestasis, progressive familial intrahepatic, 9 0.2824406921863556 +223 619487 Aicardi-Goutieres syndrome 9 0.2814842760562897 +224 277380 Methylmalonic aciduria and homocystinuria, Cblf type 0.2814764380455017 +225 614576 Congenital disorder of glycosylation, type IIl 0.28134480118751526 +226 618398 T-cell lymphoma, subcutaneous panniculitis-like 0.28130531311035156 +227 212750 Celiac disease, susceptibility to, 1 0.28016459941864014 +228 271500 Splenoportal vascular anomalies 0.2801404893398285 +229 232200 Glycogen storage disease Ia 0.2799232304096222 +230 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency 0.27970531582832336 +231 618620 Abdominal obesity-metabolic syndrome 4 0.27942195534706116 +232 614702 Combined oxidative phosphorylation deficiency 10 0.2791934907436371 +233 614520 Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency 0.27889877557754517 +234 602079 Trimethylaminuria 0.27873945236206055 +235 616216 Thrombocytopenia 5 0.2783956527709961 +236 222800 Erythrocytosis, familial, 8 0.2781231701374054 +237 620366 Osteopetrosis, autosomal recessive 9 0.2781079113483429 +238 314050 Thrombocytopenia with beta-thalassemia, X-linked 0.27810364961624146 +239 619175 Proteasome-associated autoinflammatory syndrome 5 0.27778497338294983 +240 620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A 0.2772563099861145 +241 300842 Mcleod syndrome 0.27693501114845276 +242 260400 Shwachman-Diamond syndrome 1 0.27669090032577515 +243 603903 Sickle cell anemia 0.2766028940677643 +244 602199 Medium chain 3-ketoacyl-coa thiolase deficiency 0.27627238631248474 +245 614876 Peroxisome biogenesis disorder 8A (Zellweger) 0.2762238383293152 +246 613280 Hypermanganesemia with dystonia 1 0.27532026171684265 +247 615122 Lymphoproliferative syndrome 2 0.2752474844455719 +248 261650 Phosphoenolpyruvate carboxykinase 2, mitochondrial 0.27510109543800354 +249 618549 Hepatitis, fulminant viral, susceptibility to 0.2750992476940155 +250 614507 Congenital disorder of glycosylation, type IR 0.2750992178916931 +251 222748 Dihydropyrimidinuria 0.27508750557899475 +252 602722 Distal renal tubular acidosis 3, with or without sensorineural hearing loss 0.27504733204841614 +253 614470 RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic 0.27484920620918274 +254 617300 Lymphatic malformation 7 0.2747133672237396 +255 246900 Dihydrolipoamide dehydrogenase deficiency 0.2745043635368347 +256 614921 Congenital disorder of glycosylation, type It 0.27448925375938416 +257 604273 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 0.2739401161670685 +258 617408 Diamond-Blackfan anemia 16 0.27354350686073303 +259 618278 Fibrosis, neurodegeneration, and cerebral angiomatosis 0.27317243814468384 +260 616435 Fanconi anemia, complementation group T 0.2731294631958008 +261 618849 Bone marrow failure syndrome 6 0.27300241589546204 +262 256700 Neuroblastoma, susceptibility to 0.2728046774864197 +263 617950 Combined oxidative phosphorylation deficiency 36 0.272134006023407 +264 620300 Mitochondrial trifunctional protein deficiency 2 0.2717737555503845 +265 619534 Biliary, renal, neurologic, and skeletal syndrome 0.27133050560951233 +266 613489 Congenital disorder of glycosylation, type IIj 0.2708345949649811 +267 615559 Autoimmune lymphoproliferative syndrome, type III 0.27055874466896057 +268 615381 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 0.2700064480304718 +269 215600 Cirrhosis, familial 0.2699817419052124 +270 155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 0.2698206305503845 +271 127550 Dyskeratosis congenita, autosomal dominant, 1 0.2695663571357727 +272 182170 Anemia, sideroblastic, autosomal dominant 0.2694886326789856 +273 606824 Glucose/galactose malabsorption 0.2692078948020935 +274 235200 Hemochromatosis, type 1 0.26895108819007874 +275 615715 Bone marrow failure syndrome 2 0.2685798406600952 +276 615863 Diarrhea 7, protein-losing Enteropathy type 0.26841965317726135 +277 612541 Neutropenia, severe congenital, 4, autosomal recessive 0.2682492733001709 +278 206200 Iron-Refractory iron deficiency anemia 0.26800236105918884 +279 153670 Bernard-Soulier syndrome, type A2, autosomal dominant 0.2677653729915619 +280 246700 Chylomicron retention disease 0.2674154043197632 +281 301078 Immunodeficiency 98 with autoinflammation, X-linked 0.2673899829387665 +282 616636 Immunodeficiency 44 0.267322301864624 +283 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2 0.2673104703426361 +284 202700 Neutropenia, severe congenital, 1, autosomal dominant 0.2672822177410126 +285 230900 Gaucher disease, type II 0.2669340968132019 +286 185020 Cryohydrocytosis 0.26680299639701843 +287 613989 Dyskeratosis congenita, autosomal dominant 2 0.26650434732437134 +288 618892 Harderoporphyria 0.26608192920684814 +289 617475 Specific granule deficiency 2 0.26576322317123413 +290 608404 Platelet glycoprotein IV deficiency 0.26500430703163147 +291 608013 Gaucher disease, perinatal lethal 0.2648431360721588 +292 619802 Immunodeficiency 97 with autoinflammation 0.264731228351593 +293 131400 Eosinophilia, familial 0.26461687684059143 +294 619013 Rajab interstitial lung disease with brain calcifications 2 0.26445314288139343 +295 251000 Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 0.2639800012111664 +296 179010 Pyloric stenosis, infantile hypertrophic 1 0.263873815536499 +297 615512 Triosephosphate isomerase deficiency 0.26371562480926514 +298 605479 Cholestasis, benign recurrent intrahepatic, 2 0.2635919153690338 +299 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 0.2630009055137634 +300 238600 Type I hyperlipoproteinemia 0.26289233565330505 +301 261000 Intrinsic factor deficiency 0.26156434416770935 +302 612924 Hemolytic uremic syndrome, atypical, susceptibility to, 4 0.26147982478141785 +303 615703 Morbid obesity and spermatogenic failure 0.26146140694618225 +304 612922 Hemolytic uremic syndrome, atypical, susceptibility to, 2 0.2612457871437073 +305 614742 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 0.26090192794799805 +306 619271 Bleeding disorder, platelet-type, 24, autosomal dominant 0.26076170802116394 +307 618312 Diamond-Blackfan anemia 19 0.26003414392471313 +308 619381 Immunodeficiency 82 with systemic inflammation 0.259968638420105 +309 615710 Mitchell-Riley syndrome 0.2598729431629181 +310 263700 Porphyria, congenital erythropoietic 0.25936204195022583 +311 620478 Thrombocytopenia 9 0.25906112790107727 +312 143500 Gilbert syndrome 0.25862425565719604 +313 261750 Glycogen storage disease type IXb 0.25858327746391296 +314 215700 Citrullinemia, classic 0.25831684470176697 +315 609060 Combined oxidative phosphorylation deficiency 1 0.2582482695579529 +316 620135 Mitochondrial complex I deficiency, nuclear type 39 0.2579430043697357 +317 618858 Diabetes mellitus, permanent neonatal 4 0.25749123096466064 +318 300908 Hemolytic anemia, G6PD deficient (favism) 0.25701549649238586 +319 620296 Autoinflammation with pulmonary and cutaneous vasculitis 0.25685611367225647 +320 617941 Shwachman-Diamond syndrome 2 0.25639504194259644 +321 616457 Developmental and epileptic encephalopathy 50 0.25622376799583435 +322 231690 Glutaric aciduria III 0.2561589479446411 +323 232220 Glycogen storage disease Ib 0.25592923164367676 +324 179700 Red cell phospholipid defect with hemolysis 0.2556646466255188 +325 616000 Analbuminemia 0.2556552588939667 +326 617970 Rh-null disease, amorph type 0.25545409321784973 +327 612926 Hemolytic uremic syndrome, atypical, susceptibility to, 6 0.25523847341537476 +328 206400 Anemia, nonspherocytic hemolytic, possibly due to defect in porphyrinmetabolism 0.2548118233680725 +329 601466 Patent ductus venosus 0.2547147572040558 +330 226200 Enterokinase deficiency 0.25389185547828674 +331 230350 Galactose epimerase deficiency 0.2537986636161804 +332 243800 Johanson-Blizzard syndrome 0.2536160945892334 +333 173420 Platelet disorder, undefined 0.2532326877117157 +334 227050 Transient erythroblastopenia of childhood 0.2527053654193878 +335 617443 Bleeding disorder, platelet-type, 21 0.2526823878288269 +336 615878 Cholestasis, progressive familial intrahepatic 4 0.25260451436042786 +337 301045 Congenital disorder of glycosylation, type IIr 0.2525569796562195 +338 616217 Nephronophthisis 19 0.2520001530647278 +339 614857 Methylmalonic aciduria and homocystinuria, Cblj type 0.25184744596481323 +340 611489 Corticosteroid-binding globulin deficiency 0.2507590353488922 +341 207731 Aplasia cutis congenita with intestinal lymphangiectasia 0.2506949305534363 +342 615207 Immunodeficiency 56 0.2506345510482788 +343 188030 Thrombocytopenic purpura, autoimmune 0.25053179264068604 +344 231200 Bernard-Soulier syndrome 0.25020453333854675 +345 612526 Lipodystrophy, congenital generalized, type 3 0.2501159906387329 +346 619055 Mitochondrial complex IV deficiency, nuclear type 12 0.24930603802204132 +347 500009 Mitochondrial myopathy, infantile, transient 0.2491961270570755 +348 614887 Peroxisome biogenesis disorder 13A (Zellweger) 0.24900931119918823 +349 613327 Lipodystrophy, congenital generalized, type 4 0.24881844222545624 +350 236795 3-hydroxyisobutyric aciduria 0.248752161860466 +351 173590 Platelet signal processing defect 0.24851013720035553 +352 617397 Pseudo-Torch syndrome 2 0.2484489530324936 +353 619398 Inflammatory bowel disease (infantile ulcerative colitis) 31 0.24801349639892578 +354 311250 Ornithine transcarbamylase deficiency, hyperammonemia due to 0.24782663583755493 +355 615630 Short-Rib thoracic dysplasia 10 with or without polydactyly 0.2475692629814148 +356 177735 Pseudohypoaldosteronism, type I, autosomal dominant 0.24756310880184174 +357 214700 Diarrhea 1, secretory chloride, congenital 0.24717773497104645 +358 134600 Fanconi renotubular syndrome 1 0.24712525308132172 +359 201450 Acyl-Coa dehydrogenase, medium-chain, deficiency of 0.2463085651397705 +360 601979 Hyperzincemia with functional zinc depletion 0.24618761241436005 +361 619824 Agammaglobulinemia 8B, autosomal recessive 0.24614766240119934 +362 619445 Diarrhea 12, with microvillus atrophy 0.24598753452301025 +363 269920 Infantile sialic acid storage disease 0.24577149748802185 +364 304790 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked 0.24566957354545593 +365 600462 Myopathy, lactic acidosis, and sideroblastic anemia 1 0.24518369138240814 +366 598500 Wolfram syndrome, mitochondrial form 0.24496948719024658 +367 314000 Thrombocytopenia with elevated serum IgA and renal disease 0.24471542239189148 +368 607626 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 0.2447025626897812 +369 174050 Polycystic liver disease 1 with or without kidney cysts 0.24469639360904694 +370 269840 Immunodeficiency 48 0.2445751130580902 +371 200300 Acetophenetidin sensitivity 0.24442937970161438 +372 214200 Ceroid storage disease 0.24414928257465363 +373 277480 von Willebrand disease, type 3 0.24393227696418762 +374 223350 Dohle bodies and leukemia 0.24348902702331543 +375 604250 Hemochromatosis, type 3 0.24326804280281067 +376 604498 Amegakaryocytic thrombocytopenia, congenital 0.24257074296474457 +377 187950 Thrombocythemia 1 0.24234876036643982 +378 612852 Interleukin 1 receptor antagonist deficiency 0.242302805185318 +379 162830 Neutrophilia, hereditary 0.2422069013118744 +380 231530 3-Hydroxyacyl-Coa dehydrogenase deficiency 0.241953045129776 +381 619685 Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis 0.24194206297397614 +382 264350 Pseudohypoaldosteronism, type I, autosomal recessive 0.241842120885849 +383 612923 Hemolytic uremic syndrome, atypical, susceptibility to, 3 0.24180488288402557 +384 268150 Anemia, hemolytic, Rh-null, Regulator type 0.241653710603714 +385 608779 Congenital disorder of glycosylation, type IIe 0.24159038066864014 +386 166910 Ovalocytosis, hereditary hemolytic, with defective erythropoiesis 0.24136239290237427 +387 615550 Diamond-Blackfan anemia 12 0.24089862406253815 +388 612423 Prekallikrein deficiency 0.2403583824634552 +389 618534 Immunodeficiency 64 0.24014990031719208 +390 235400 Hemolytic uremic syndrome, atypical, susceptibility to, 1 0.2400984764099121 +391 620484 Thrombocytopenia 10 0.24009345471858978 +392 610333 Aicardi-Goutieres syndrome 4 0.2396528571844101 +393 615387 Immunodeficiency 7, TCR-alpha/beta deficient 0.23950794339179993 +394 615415 Renal-Hepatic-Pancreatic dysplasia 2 0.23943831026554108 +395 228000 Farber lipogranulomatosis 0.23926003277301788 +396 607115 Cinca syndrome 0.23909306526184082 +397 610293 Glycosylphosphatidylinositol deficiency 0.23873445391654968 +398 218030 Apparent mineralocorticoid excess 0.23850148916244507 +399 617514 Immunodeficiency 52 0.23837612569332123 +400 618958 Combined oxidative phosphorylation deficiency 47 0.23825471103191376 +401 204730 Amino aciduria with mental deficiency, dwarfism, muscular dystrophy,osteoporosis, and acidosis 0.23801006376743317 +402 607091 Congenital disorder of glycosylation, type IID 0.23765236139297485 +403 618252 Mitochondrial complex I deficiency, nuclear type 32 0.23747937381267548 +404 610629 Diamond-Blackfan anemia 3 0.2374466508626938 +405 601815 Phosphoglycerate dehydrogenase deficiency 0.23717910051345825 +406 618116 Bone marrow failure syndrome 4 0.2371552735567093 +407 614265 Combined malonic and methylmalonic aciduria 0.23702472448349 +408 615751 Hyperammonemia due to carbonic anhydrase VA deficiency 0.23697669804096222 +409 300635 Lymphoproliferative syndrome, X-linked, 2 0.23661480844020844 +410 256540 Galactosialidosis 0.23644733428955078 +411 266510 Peroxisome biogenesis disorder 3B 0.23624423146247864 +412 618886 Pseudo-Torch syndrome 3 0.2361476868391037 +413 610370 Diarrhea 4, malabsorptive, congenital 0.23614181578159332 +414 618310 Diamond-Blackfan anemia 18 0.2360551357269287 +415 615237 Congenital short bowel syndrome 0.23598961532115936 +416 616483 Infantile liver failure syndrome 2 0.23579096794128418 +417 600649 Carnitine palmitoyltransferase II deficiency, infantile 0.23559346795082092 +418 250940 Homocystinuria-megaloblastic anemia, cblg Complementation type 0.23549874126911163 +419 251290 Band-Like calcification with simplified gyration and polymicrogyria 0.2353270947933197 +420 251120 Methylmalonyl-Coa epimerase deficiency 0.23496703803539276 +421 159550 Ataxia-Pancytopenia syndrome 0.2345302253961563 +422 223000 Lactase deficiency, congenital 0.23450002074241638 +423 271400 Asplenia, isolated congenital 0.2344992458820343 +424 617388 Autoinflammation with arthritis and dyskeratosis 0.23416024446487427 +425 560000 Renal tubulopathy, diabetes mellitus, and cerebellar ataxia 0.2337903380393982 +426 210050 Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification 0.23325732350349426 +427 607625 Niemann-pick disease, type C2 0.2328203171491623 +428 618495 Immunodeficiency 63 with lymphoproliferation and autoimmunity 0.23279979825019836 +429 618235 Mitochondrial complex I deficiency, nuclear type 13 0.23261268436908722 +430 616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 0.23243260383605957 +431 142000 Hemoglobin-Delta locus 0.23229879140853882 +432 613404 Arthrogryposis, renal dysfunction, and cholestasis 2 0.23227469623088837 +433 601859 Autoimmune lymphoproliferative syndrome 0.2321525514125824 +434 112200 Blue rubber bleb nevus 0.23211093246936798 +435 236270 Homocystinuria-megaloblastic anemia, cbl E type 0.2320723533630371 +436 613990 Dyskeratosis congenita, autosomal dominant 3 0.23174704611301422 +437 613471 Reynolds syndrome 0.2316652238368988 +438 610678 Combined oxidative phosphorylation deficiency 4 0.23148541152477264 +439 614652 Coenzyme Q10 deficiency, primary, 3 0.2312900722026825 +440 603909 Autoimmune lymphoproliferative syndrome, type IIA 0.2310429960489273 +441 601775 Megaloblastic anemia, folate-responsive 0.23101507127285004 +442 207750 Apolipoprotein C-II deficiency 0.23081932961940765 +443 227090 Erythroderma, lethal congenital 0.23076950013637543 +444 277400 Methylmalonic aciduria and homocystinuria, Cblc type 0.23069097101688385 +445 618183 Diarrhea 10, protein-losing enteropathy type 0.23061789572238922 +446 616452 B-cell expansion with NFKB and T-cell anergy 0.23050178587436676 +447 167800 Pancreatitis, hereditary 0.23027010262012482 +448 607748 Hypercholanemia, familial 0.2302364557981491 +449 210210 3-Methylcrotonyl-CoA carboxylase 2 deficiency 0.23004885017871857 +450 109130 Axial osteomalacia 0.2300206422805786 +451 615010 Aicardi-Goutieres syndrome 6 0.23001685738563538 +452 618851 Combined oxidative phosphorylation deficiency 43 0.22979068756103516 +453 131300 Camurati-Engelmann disease 0.22953668236732483 +454 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 0.2294340431690216 +455 141000 Hemangioma-Thrombocytopenia syndrome 0.22938668727874756 +456 615688 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 0.22919051349163055 +457 614096 Combined oxidative phosphorylation deficiency 8 0.22915662825107574 +458 266120 Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemiadue to 0.22879543900489807 +459 616959 Retinitis pigmentosa and erythrocytic microcytosis 0.2283945083618164 +460 616111 Mitochondrial complex III deficiency, nuclear type 9 0.22813303768634796 +461 618313 Diamond-Blackfan anemia 20 0.22811535000801086 +462 612740 Porphyria, acute hepatic 0.22801533341407776 +463 619147 Leukoencephalopathy, progressive, infantile-onset, with or without deafness 0.22790943086147308 +464 231670 Glutaric acidemia I 0.2276836782693863 +465 229050 Folate malabsorption, hereditary 0.22763077914714813 +466 618246 Mitochondrial complex I deficiency, nuclear type 25 0.22749651968479156 +467 150550 Periodic fever, immunodeficiency, and thrombocytopenia syndrome 0.22742518782615662 +468 237300 Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to 0.22735954821109772 +469 615846 Aicardi-Goutieres syndrome 7 0.22715497016906738 +470 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) 0.22705765068531036 +471 615593 Immunodeficiency 16 0.22679701447486877 +472 616198 Combined oxidative phosphorylation deficiency 23 0.22656254470348358 +473 615578 Combined oxidative phosphorylation deficiency 18 0.22648198902606964 +474 185050 Storage pool platelet disease 0.22626541554927826 +475 266130 Glutathione synthetase deficiency 0.2262287586927414 +476 208540 Renal-hepatic-pancreatic dysplasia 1 0.22600585222244263 +477 617308 Bile acid synthesis defect, congenital, 6 0.22580759227275848 +478 610947 Coronary artery disease, autosomal dominant 2 0.2255808562040329 +479 254600 Myeloperoxidase deficiency 0.22551393508911133 +480 613987 Dyskeratosis congenita, autosomal recessive, 2 0.22523847222328186 +481 250800 Methemoglobinemia due to deficiency of methemoglobin reductase 0.22522598505020142 +482 612301 Osteopetrosis, autosomal recessive 7 0.22514289617538452 +483 616022 Neutropenia, severe congenital, 6, autosomal recessive 0.22508341073989868 +484 253270 Holocarboxylase synthetase deficiency 0.22490273416042328 +485 615508 Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 0.224557563662529 +486 618213 Inflammatory bowel disease, immunodeficiency, and encephalopathy 0.22442598640918732 +487 617341 Cerebroretinal microangiopathy with calcifications and cysts 2 0.22439606487751007 +488 146300 Hypophosphatasia, adult 0.22429314255714417 +489 603358 Gracile syndrome 0.22420638799667358 +490 612416 Factor XI deficiency 0.22419960796833038 +491 612925 Hemolytic uremic syndrome, atypical, susceptibility to, 5 0.22411279380321503 +492 254900 Epilepsy, progressive myoclonic, 4, with or without renal failure 0.2240939885377884 +493 610131 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 0.22375498712062836 +494 619423 Combined oxidative phosphorylation deficiency 53 0.2236929088830948 +495 606176 Diabetes mellitus, permanent neonatal 1 0.2235492318868637 +496 617980 Erythrocytosis 6 0.22350208461284637 +497 215250 Chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome 0.22337903082370758 +498 617948 Elliptocytosis-3 0.22278064489364624 +499 617718 Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia 0.22272531688213348 +500 205400 Tangier disease 0.22261081635951996 +501 611283 Isobutyryl-CoA dehydrogenase deficiency 0.22255979478359222 +502 620137 Mitochondrial complex III deficiency, nuclear type 11 0.22250080108642578 +503 619151 AMED syndrome, digenic 0.22243191301822662 +504 615198 Osteosclerotic metaphyseal dysplasia 0.22242474555969238 +505 105200 Amyloidosis, familial visceral 0.22222889959812164 +506 611182 Congenital disorder of glycosylation, type IIh 0.2220989167690277 +507 607426 Coenzyme Q10 deficiency, primary, 1 0.22186791896820068 +508 616299 Lipoyltransferase 1 deficiency 0.22163383662700653 +509 618182 Orthostatic hypotension 2 0.22119808197021484 +510 241500 Hypophosphatasia, infantile 0.2209567129611969 +511 183350 SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA ANDREDUCED CIRCULATING T-HELPER CELLS 0.22089901566505432 +512 118830 Chylomicronemia, familial, due to circulating inhibitor of lipoproteinlipase 0.22089067101478577 +513 193100 Hypophosphatemic rickets, autosomal dominant 0.22080008685588837 +514 127000 Kenny-caffey syndrome, type 2 0.2204442173242569 +515 175050 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 0.22009782493114471 +516 610205 Alagille syndrome 2 0.22008231282234192 +517 232800 Glycogen storage disease VII 0.21963520348072052 +518 224230 Dyskeratosis congenita, autosomal recessive 1 0.21938548982143402 +519 207800 Argininemia 0.21925657987594604 +520 618567 Mitochondrial DNA depletion syndrome 17 0.219077929854393 +521 619064 Mitochondrial complex IV deficiency, nuclear type 20 0.2188176065683365 +522 601811 Premature aging syndrome, Okamoto type 0.21863555908203125 +523 201100 Acrodermatitis enteropathica, Zinc-Deficiency type 0.21859793365001678 +524 614739 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 0.21858352422714233 +525 255125 Myopathy with exercise intolerance, Swedish type 0.21844646334648132 +526 617052 Bone marrow failure syndrome 3 0.2183036059141159 +527 618935 Chronic granulomatous disease 5, autosomal recessive 0.21813338994979858 +528 242150 Ichthyosiform erythroderma, corneal involvement, and deafness 0.21785488724708557 +529 144650 Hyperlipoproteinemia, type V 0.21762973070144653 +530 616539 Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay 0.21753071248531342 +531 209920 Bare lymphocyte syndrome, type II 0.21752798557281494 +532 251900 Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy 0.21739064157009125 +533 614082 Fanconi anemia, complementation group G 0.21736209094524384 +534 614700 Immunodeficiency, common variable, 8, with autoimmunity 0.2170654684305191 +535 600084 Macrocytosis, familial 0.2169448435306549 +536 610460 THIOPURINE S-METHYLTRANSFERASE DEFICIENCY 0.2169448435306549 +537 618999 Autoinflammation, immune dysregulation, and eosinophilia 0.21670253574848175 +538 260005 5-@oxoprolinase deficiency 0.21646401286125183 +539 615026 Riboflavin deficiency 0.21642431616783142 +540 617911 Diamond-Blackfan anemia-like 0.21636934578418732 +541 612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 0.21624961495399475 +542 242700 Immune defect due to absence of thymus 0.2162206470966339 +543 613978 Hemoglobin H disease 0.2162022590637207 +544 619652 Immunodeficiency 92 0.21583868563175201 +545 617907 Erythrocytosis, familial, 5 0.21552182734012604 +546 617981 Erythrocytosis 7 0.2154182344675064 +547 616201 Chronic atrial and intestinal dysrhythmia 0.21522705256938934 +548 607196 Microcephaly, Amish type 0.21516159176826477 +549 194350 Wt limb-blood syndrome 0.21484902501106262 +550 232240 Glycogen storage disease Ic 0.21480496227741241 +551 615008 Nephrotic syndrome, type 7 0.21479415893554688 +552 613606 Forsythe-Wakeling syndrome 0.21454273164272308 +553 612527 Diamond-Blackfan anemia 4 0.21453002095222473 +554 211000 Blue diaper syndrome 0.2142849564552307 +555 617409 Diamond-Blackfan anemia 17 0.2142474353313446 +556 612561 Diamond-Blackfan anemia 6 0.21423818171024323 +557 608885 Stomatin-deficient cryohydrocytosis with neurologic defects 0.2142106145620346 +558 600901 Fanconi anemia, complementation group E 0.21418125927448273 +559 256150 NEPHROSIALIDOSIS 0.21403367817401886 +560 266150 Pyruvate carboxylase deficiency 0.2139040231704712 +561 618850 Hypervalinemia or hyperleucine-isoleucinemia 0.21374265849590302 +562 252270 Myelodysplasia and leukemia syndrome with monosomy 7 0.21371817588806152 +563 617053 Mirage syndrome 0.21336711943149567 +564 615279 Cardiofaciocutaneous syndrome 3 0.21336278319358826 +565 602361 Gracile bone dysplasia 0.21334265172481537 +566 102900 Adenosine triphosphate, elevated, of erythrocytes 0.21332740783691406 +567 615605 Fanconi renotubular syndrome 3 0.2132059782743454 +568 615193 Bleeding disorder, platelet-type, 15 0.21304365992546082 +569 609981 Immunodeficiency 54 0.2129364013671875 +570 614922 Combined oxidative phosphorylation deficiency 11 0.21280910074710846 +571 619053 Mitochondrial complex IV deficiency, nuclear type 10 0.21265238523483276 +572 614866 Peroxisome biogenesis disorder 5A (Zellweger) 0.2126237452030182 +573 613329 Plasminogen activator inhibitor-1 deficiency 0.2125902622938156 +574 102700 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 0.21258510649204254 +575 308230 Immunodeficiency, X-linked, with hyper-IgM 0.21255499124526978 +576 256550 Neuraminidase deficiency 0.21244178712368011 +577 618250 Mitochondrial complex I deficiency, nuclear type 29 0.21235120296478271 +578 600666 Polycystic kidney disease 3 0.21216066181659698 +579 237310 N-acetylglutamate synthase deficiency 0.21205095946788788 +580 616271 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 0.21180155873298645 +581 219090 Pituitary adenoma 4, ACTH-secreting, somatic 0.21148473024368286 +582 306000 Glycogen storage disease, type IXa1 0.2114570587873459 +583 619924 Immunodeficiency 105, severe combined 0.21144048869609833 +584 222900 Sucrase-isomaltase deficiency, congenital 0.21138976514339447 +585 601127 Fallot complex with severe mental and growth retardation 0.21108664572238922 +586 214500 Chediak-Higashi syndrome 0.2106892466545105 +587 209050 Athrombia, essential 0.21052594482898712 +588 237500 DUBIN-JOHNSON syndrome 0.20994393527507782 +589 606893 Vascular malformation, primary intraosseous 0.20984424650669098 +590 615440 Combined oxidative phosphorylation deficiency 17 0.20976588129997253 +591 619355 Mitochondrial complex IV deficiency, nuclear type 22 0.2096738964319229 +592 615238 Lipodystrophy, familial partial, type 5 0.20965896546840668 +593 614321 Myopathy, distal, Tateyama type 0.20956644415855408 +594 616871 Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to 0.20952734351158142 +595 267010 Meckel syndrome, type 7 0.2090212106704712 +596 610498 Combined oxidative phosphorylation deficiency 2 0.20881997048854828 +597 617228 Combined oxidative phosphorylation deficiency 31 0.20873674750328064 +598 126550 Calvarial doughnut lesions with bone fragility 0.2084473818540573 +599 619789 Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive 0.2084452360868454 +600 227650 Fanconi anemia 0.20839421451091766 +601 189800 Preeclampsia/eclampsia 1 0.20832018554210663 +602 604278 Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation 0.20830877125263214 +603 612562 Diamond-Blackfan anemia 7 0.2082880288362503 +604 617099 Autoinflammation, panniculitis, and dermatosis syndrome 0.2080620676279068 +605 188000 Thrombocytopenia 2 0.20802320539951324 +606 612073 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 0.2079848349094391 +607 603467 Fanconi anemia, complementation group F 0.20777016878128052 +608 256300 Nephrotic syndrome, type 1 0.2077437788248062 +609 275630 Chanarin-Dorfman syndrome 0.2075786292552948 +610 610199 Diabetes mellitus, neonatal, with congenital hypothyroidism 0.20720334351062775 +611 176100 Porphyria cutanea tarda 0.2071017622947693 +612 210200 3-Methylcrotonyl-CoA carboxylase 1 deficiency 0.20704452693462372 +613 614162 Immunodeficiency 31C 0.20671314001083374 +614 619012 Combined oxidative phosphorylation deficiency 48 0.20667076110839844 +615 143860 Hyperchlorhidrosis, isolated 0.2064700871706009 +616 618952 Combined oxidative phosphorylation deficiency 46 0.2064238339662552 +617 219700 Cystic fibrosis 0.20640304684638977 +618 269200 Autoimmune polyendocrine syndrome, type II 0.20638665556907654 +619 619113 COACH syndrome 3 0.2061806172132492 +620 140350 Hawkinsinuria 0.20605133473873138 +621 208060 Arteriosclerosis, severe juvenile 0.2060450315475464 +622 130600 Elliptocytosis 2 0.2060113400220871 +623 618229 Mitochondrial complex I deficiency, nuclear type 7 0.20599691569805145 +624 605724 Fanconi anemia, complementation group D1 0.2058999389410019 +625 615597 Congenital disorder of glycosylation, type Ix 0.20582126080989838 +626 615934 STING-associated vasculopathy, infantile-onset 0.20581772923469543 +627 616100 Autoimmune lymphoproliferative syndrome, type V 0.20570214092731476 +628 227645 Fanconi anemia, complementation group C 0.20554770529270172 +629 212350 Sengers syndrome 0.20553548634052277 +630 615824 Mitochondrial complex III deficiency, nuclear type 7 0.2047257125377655 +631 614172 Immunodeficiency 21 0.20471079647541046 +632 235255 Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly 0.20441335439682007 +633 242900 Immunoosseous dysplasia, Schimke type 0.20438651740550995 +634 616834 Microcephaly, congenital cataract, and psoriasiform dermatitis 0.20428566634655 +635 620486 Bleeding disorder, platelet-type, 25 0.20425598323345184 +636 145600 Malignant hyperthermia, susceptibility to, 1 0.20421412587165833 +637 146350 Hypophosphatemic bone disease 0.20419318974018097 +638 229700 Fructose-1,6-bisphosphatase deficiency 0.20397965610027313 +639 176670 Hutchinson-Gilford progeria syndrome 0.20388877391815186 +640 133100 Erythrocytosis, familial, 1 0.20368444919586182 +641 619375 Autoinflammatory syndrome, familial, with or without immunodeficiency 0.20340672135353088 +642 602450 Severe combined immunodeficiency with sensitivity to ionizing radiation 0.2033306360244751 +643 606445 PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS 0.20323224365711212 +644 601399 Platelet disorder, familial, with associated myeloid malignancy 0.20321322977542877 +645 604290 ACERULOPLASMINEMIA 0.2031712830066681 +646 612004 Thrombocytopenia 4 0.202969491481781 +647 210500 Biliary atresia, extrahepatic 0.20293022692203522 +648 619693 Agammaglobulinemia 9, autosomal recessive 0.20290203392505646 +649 614743 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 0.20282530784606934 +650 619183 Proteasome-associated autoinflammatory syndrome 4 0.2027403861284256 +651 612132 Ectodermal dysplasia and immunodeficiency 2 0.20268645882606506 +652 248360 Malonyl-CoA decarboxylase deficiency 0.20190326869487762 +653 614651 Coenzyme Q10 deficiency, primary, 2 0.20183655619621277 +654 530000 Kearns-Sayre syndrome 0.20171628892421722 +655 619256 Hypercholanemia, familial 2 0.20163699984550476 +656 618811 Mitochondrial DNA depletion syndrome 18 0.2016179859638214 +657 604367 Lipodystrophy, familial partial, type 3 0.20147939026355743 +658 212065 Congenital disorder of glycosylation, type Ia 0.20142675936222076 +659 618261 Lymphoproliferative syndrome 3 0.20141327381134033 +660 613308 Diamond-Blackfan anemia 9 0.20138894021511078 +661 614514 Thrombophilia due to protein S deficiency, autosomal recessive 0.20121164619922638 +662 613554 Von willebrand disease, type 2 0.20112469792366028 +663 618228 Mitochondrial complex I deficiency, nuclear type 6 0.2011106014251709 +664 619051 Mitochondrial complex IV deficiency, nuclear type 7 0.20106738805770874 +665 616501 Mitochondrial complex IV deficiency, nuclear type 13 0.20077994465827942 +666 314560 Von willebrand disease, X-linked form 0.20065821707248688 +667 619743 Combined oxidative phosphorylation deficiency 55 0.2005820870399475 +668 618972 Mitochondrial DNA depletion syndrome 19 0.20007023215293884 +669 620210 Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia 0.19995833933353424 +670 620058 Familial apolipoprotein gene cluster deletion syndrome 0.19977954030036926 +671 607361 Meckel syndrome 3 0.19965630769729614 +672 228600 Hyaline fibromatosis syndrome 0.1994238793849945 +673 177820 Pseudo-Von willebrand disease 0.1991170346736908 +674 602473 Encephalopathy, ethylmalonic 0.19909335672855377 +675 614496 Pseudohypoaldosteronism, type IIE 0.19896827638149261 +676 301074 Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 0.19840988516807556 +677 203400 Corticosterone methyloxidase type I deficiency 0.1984037160873413 +678 613550 Nephronophthisis 11 0.19838084280490875 +679 604091 HDL deficiency, familial, 1 0.1983601599931717 +680 267200 Renal tubular acidosis III 0.19831432402133942 +681 614492 Pseudohypoaldosteronism, type IIC 0.1981526017189026 +682 611719 Combined oxidative phosphorylation deficiency 5 0.1980862319469452 +683 615382 Nephronophthisis 16 0.19804497063159943 +684 609069 Pancreatic and cerebellar agenesis 0.19790275394916534 +685 617303 Mucopolysaccharidosis-Plus syndrome 0.19766701757907867 +686 272650 Tatsumi factor deficiency 0.19757454097270966 +687 614979 Splenomegaly, cytopenia, and vision loss 0.19751997292041779 +688 241520 Hypophosphatemic rickets, autosomal recessive 0.19734881818294525 +689 227400 Factor V deficiency 0.19733355939388275 +690 165660 Oslam syndrome 0.19732733070850372 +691 606367 Immunodeficiency 41 with lymphoproliferation and autoimmunity 0.19732016324996948 +692 252010 Mitochondrial complex I deficiency, nuclear type 1 0.1973116099834442 +693 617248 3-methylglutaconic aciduria, type VIII 0.197265625 +694 606528 Homozygous 11p15-p14 deletion syndrome 0.19720955193042755 +695 615923 Epiphyseal chondrodysplasia, Miura type 0.19707420468330383 +696 261515 D-bifunctional protein deficiency 0.19704961776733398 +697 613933 Acetyl-CoA carboxylase deficiency 0.1969483643770218 +698 230600 GM1-gangliosidosis, type II 0.1969270259141922 +699 151660 Lipodystrophy, familial partial, type 2 0.19688774645328522 +700 620185 Atelis syndrome 2 0.1967390775680542 +701 603147 Congenital disorder of glycosylation, type Ic 0.19671837985515594 +702 612227 Diabetes mellitus, ketosis-prone 0.19666855037212372 +703 611555 Renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies 0.19647863507270813 +704 266140 Pyropoikilocytosis, hereditary 0.1962590217590332 +705 616629 Senior-Loken syndrome 9 0.19617415964603424 +706 608068 Neutrophilic dermatosis, acute febrile 0.19616802036762238 +707 614870 Peroxisome biogenesis disorder 6A (Zellweger) 0.19614991545677185 +708 611783 Erythrocytosis, familial, 4 0.19612394273281097 +709 239199 Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria 0.1959134340286255 +710 609821 Bleeding disorder, platelet-type, 8 0.19587083160877228 +711 125800 Diabetes insipidus, nephrogenic, 2 0.19583170115947723 +712 607271 Autoimmune lymphoproliferative syndrome, type IIB 0.19574742019176483 +713 249270 Thiamine-Responsive megaloblastic anemia syndrome 0.19560334086418152 +714 179830 Renal tubular acidosis, proximal 0.19551154971122742 +715 618226 Mitochondrial complex I deficiency, nuclear type 5 0.19550803303718567 +716 618406 Body mass index quantitative trait locus 20 0.19545802474021912 +717 603813 Hypercholesterolemia, autosomal recessive 0.19544830918312073 +718 616719 Spinocerebellar ataxia, autosomal recessive 21 0.19537462294101715 +719 617068 Portal hypertension, noncirrhotic 0.1953664869070053 +720 608776 Congenital disorder of glycosylation, type Il 0.19519086182117462 +721 619750 Immunodeficiency 94 with autoinflammation and dysmorphic facies 0.19514916837215424 +722 602390 Hemochromatosis, type 2A 0.1950903832912445 +723 620005 Primordial dwarfism-immunodeficiency-lipodystrophy syndrome 0.19502508640289307 +724 614521 Thrombocythemia 3 0.194920614361763 +725 601678 Bartter syndrome, type 1, antenatal 0.19475537538528442 +726 619267 Glanzmann thrombasthenia 2 0.19474376738071442 +727 137560 Giant platelet syndrome with thrombocytopenia 0.1947239488363266 +728 105650 Diamond-Blackfan anemia 1 0.19453008472919464 +729 236200 Homocystinuria due to cystathionine beta-synthase deficiency 0.1944669932126999 +730 614741 Mitochondrial pyruvate carrier deficiency 0.1942017674446106 +731 122700 Coumarin resistance 0.1940927654504776 +732 151500 Leukocyte nuclear appendages, hereditary prevalence of 0.1940927654504776 +733 137500 Giant neutrophil leukocytes 0.1940927654504776 +734 306930 Hemopoietic proliferation 0.1940927654504776 +735 114650 Car factor deficiency 0.19408340752124786 +736 207300 Antithrombin, familial hemorrhagic diathesis due to 0.19408340752124786 +737 173450 Platelet factor 3 deficiency 0.19408340752124786 +738 169200 Pechet factor deficiency 0.19408340752124786 +739 144050 HYPERHEPARINEMIA 0.19408340752124786 +740 609016 Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency 0.1938800811767578 +741 601977 Thrombocythemia 2 0.19383709132671356 +742 610773 Mitochondrial phosphate carrier deficiency 0.19333024322986603 +743 273800 Glanzmann thrombasthenia 0.19321423768997192 +744 606056 Congenital disorder of glycosylation, type IIB 0.1930035799741745 +745 219800 Cystinosis, nephropathic 0.19264483451843262 +746 123550 Cryoglobulinemia, familial mixed 0.19251614809036255 +747 243320 Intrinsic factor and R binder, combined congenital deficiency of 0.19251014292240143 +748 618394 Immunodeficiency 60 0.19249117374420166 +749 618378 Combined oxidative phosphorylation deficiency 38 0.19241070747375488 +750 136120 Fish-Eye disease 0.1923624724149704 +751 618776 Mitochondrial complex I deficiency, nuclear type 34 0.19235995411872864 +752 612528 Diamond-Blackfan anemia 5 0.19229918718338013 +753 608836 Carnitine palmitoyltransferase II deficiency, lethal neonatal 0.1922948658466339 +754 615789 Short stature with microcephaly and distinctive facies 0.1922110617160797 +755 615119 Mitochondrial complex IV deficiency, nuclear type 6 0.19206124544143677 +756 612199 Cerebroretinal microangiopathy with calcifications and cysts 1 0.19201499223709106 +757 231005 Gaucher disease, type IIIC 0.19200804829597473 +758 618168 Diarrhea 9 0.19200752675533295 +759 300751 Anemia, sideroblastic, X-linked 0.19191253185272217 +760 220111 Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) 0.19180463254451752 +761 233710 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II 0.19166679680347443 +762 233700 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I 0.19166679680347443 +763 273900 Thrombocytopenia 3 0.1916140615940094 +764 301110 Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature 0.1915588229894638 +765 619003 Mitochondrial complex I deficiency, nuclear type 35 0.19128020107746124 +766 614450 Hypothyroidism, congenital, nongoitrous, 6 0.19127683341503143 +767 256040 Proteasome-associated autoinflammatory syndrome 1 and digenic forms 0.19105380773544312 +768 301500 Fabry disease 0.19098755717277527 +769 600089 Pancreatic beta cell agenesis with neonatal diabetes mellitus 0.1909782737493515 +770 600467 Malignant hyperthermia, susceptibility to, 4 0.19095256924629211 +771 608971 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 0.19088990986347198 +772 620126 Pseudohypoaldosteronism, type IB3, autosomal recessive 0.19087471067905426 +773 212093 Cardiac valvular defect, developmental 0.19082845747470856 +774 613179 Immunodeficiency due to purine nucleoside phosphorylase deficiency 0.19078674912452698 +775 263400 Erythrocytosis, familial, 2 0.19074766337871552 +776 619324 Hypertriglyceridemia 2 0.19046109914779663 +777 618721 Epileptic encephalopathy, early infantile, 82 0.19044987857341766 +778 616843 Lymphedema, hereditary, III 0.1903524100780487 +779 241200 Bartter syndrome, type 2 0.19034229218959808 +780 613095 Polycystic kidney disease 2 0.1902756541967392 +781 612563 Diamond-Blackfan anemia 8 0.19023089110851288 +782 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 0.19016963243484497 +783 615838 Mitochondrial complex III deficiency, nuclear type 8 0.1900956928730011 +784 152800 Lymphangiectasia, intestinal 0.18997256457805634 +785 616744 Autoinflammatory syndrome, familial, Behcet-like 0.18984262645244598 +786 134500 Factor VIII deficiency 0.18984244763851166 +787 600001 Pancreatic agenesis and congenital heart defects 0.189750075340271 +788 262890 Scott syndrome 0.1897052377462387 +789 615909 Diamond-Blackfan anemia 13 0.18964052200317383 +790 613312 Hypophosphatemic rickets, autosomal recessive, 2 0.18961597979068756 +791 245200 Krabbe disease 0.18960410356521606 +792 617244 Fanconi anemia, complementation group R 0.1896035224199295 +793 614863 Peroxisome biogenesis disorder 4B 0.18944232165813446 +794 613092 Tubulointerstitial kidney disease, autosomal dominant, 4 0.1893608719110489 +795 108725 Atherosclerosis susceptibility 0.18933458626270294 +796 176630 Primary release disorder of platelets 0.189168781042099 +797 612287 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 0.18914256989955902 +798 240500 Immunodeficiency, common variable, 2 0.18913252651691437 +799 233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE 0.18899357318878174 +800 619278 Microcephaly, epilepsy, and diabetes syndrome 2 0.1889411211013794 +801 615267 Hypogonadotropic hypogonadism 18 with or without anosmia 0.18893703818321228 +802 231680 Multiple acyl-CoA-dehydrogenase deficiency 0.18889620900154114 +803 188025 Thrombocytopenia, Paris-Trousseau type 0.18886038661003113 +804 614602 Trichohepatoenteric syndrome 2 0.18861697614192963 +805 618224 Mitochondrial complex I deficiency, nuclear type 3 0.18847981095314026 +806 241150 Hypokalemic alkalosis, familial, with specific renal tubulopathy 0.18843403458595276 +807 620331 Hatipoglu immunodeficiency syndrome 0.18841996788978577 +808 239000 Paget disease of bone 5, juvenile-onset 0.1882307082414627 +809 601410 Diabetes mellitus, transient neonatal, 1 0.18821418285369873 +810 163950 Noonan syndrome 1 0.18804249167442322 +811 620072 Diamond-Blackfan anemia 21 0.1879655122756958 +812 616794 Combined oxidative phosphorylation deficiency 28 0.18793140351772308 +813 153550 Chromosome 5q deletion syndrome 0.18787135183811188 +814 261590 Phenformin 4-hydroxylation 0.18777813017368317 +815 243300 Cholestasis, benign recurrent intrahepatic 1 0.1877439022064209 +816 612126 Glut1 deficiency syndrome 2 0.1876831203699112 +817 202400 Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included 0.18745316565036774 +818 614654 Coenzyme Q10 deficiency, primary, 5 0.1873670518398285 +819 614932 Combined oxidative phosphorylation deficiency 13 0.18735259771347046 +820 609812 Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction 0.187143012881279 +821 200100 ABETALIPOPROTEINEMIA 0.1869293451309204 +822 129850 Edinburgh malformation syndrome 0.18689312040805817 +823 617056 Tubulointerstitial kidney disease, autosomal dominant, 5 0.18683214485645294 +824 618810 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 0.18678498268127441 +825 613116 Thrombophilia due to histidine-rich glycoprotein deficiency 0.18672417104244232 +826 614278 Platelet-Activating factor acetylhydrolase deficiency 0.18670937418937683 +827 185460 Sulfhemoglobinemia, congenital 0.18663039803504944 +828 619073 Vitamin d-dependent rickets, type 3 0.1865748167037964 +829 307030 Glycerol kinase deficiency 0.1864495575428009 +830 264140 Prune belly syndrome with pulmonic stenosis, mental retardation, anddeafness 0.1864127814769745 +831 600376 Telangiectasia, hereditary hemorrhagic, type 2 0.18617630004882812 +832 239100 Hyperostosis corticalis generalisata 0.1860489845275879 +833 227310 Factor V and factor VIII, combined deficiency of, with normal proteinc and protein C inhibitor 0.18580663204193115 +834 227300 Factor V and factor VIII, combined deficiency of 0.18580663204193115 +835 222300 Wolfram syndrome 1 0.1857217401266098 +836 152700 Systemic lupus erythematosus 0.18556809425354004 +837 227646 Fanconi anemia, complementation group D2 0.18553978204727173 +838 610505 Combined oxidative phosphorylation deficiency 3 0.18542534112930298 +839 618048 Proteasome-Associated autoinflammatory syndrome 2 0.18533764779567719 +840 608203 Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis 0.18522946536540985 +841 115197 Cardiomyopathy, familial hypertrophic, 4 0.1851896047592163 +842 601608 Spastic paraplegia and Evans syndrome 0.18512658774852753 +843 256100 Nephronophthisis 1 0.18512161076068878 +844 616069 Inflammatory skin and bowel disease, neonatal, 2 0.18507729470729828 +845 201400 Acth deficiency, isolated 0.18493874371051788 +846 620071 Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss 0.18492066860198975 +847 618372 Gastrointestinal ulceration, recurrent, with dysfunctional platelets 0.18488359451293945 +848 619313 Immunodeficiency 80 with or without cardiomyopathy 0.18471163511276245 +849 615918 Combined oxidative phosphorylation deficiency 21 0.18467265367507935 +850 277410 Methylmalonic aciduria and homocystinuria, Cbld type 0.18461757898330688 +851 612286 Nephrolithiasis/osteoporosis, hypophosphatemic, 1 0.18461209535598755 +852 618795 Juvenile arthritis 0.18441270291805267 +853 606631 Camurati-engelmann disease, type 2 0.18437057733535767 +854 145260 Pseudohypoaldosteronism, type II 0.18435712158679962 +855 600081 Vitamin D hydroxylation-deficient rickets, type 1B 0.18404321372509003 +856 253260 Biotinidase deficiencymultiple carboxylase deficiency, late-onset 0.18399564921855927 +857 613217 Diarrhea 5, with tufting enteropathy, congenital 0.18396955728530884 +858 616095 Monocarboxylate transporter 1 deficiency 0.18390177190303802 +859 605711 Multiple mitochondrial dysfunctions syndrome 1 0.1838032454252243 +860 301054 VEXAS syndrome, somatic 0.1837635189294815 +861 240600 Glycogen storage disease 0, liver 0.18373343348503113 +862 614201 Bleeding disorder, platelet-type, 11 0.18365538120269775 +863 618238 Mitochondrial complex I deficiency, nuclear type 16 0.18355244398117065 +864 618237 Mitochondrial complex I deficiency, nuclear type 15 0.18348468840122223 +865 601457 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 0.18329277634620667 +866 615952 Autoimmune disease, multisystem, infantile-onset, 1 0.18312719464302063 +867 620233 Respiratory infections, recurrent, and failure to thrive with or without diarrhea 0.1829492300748825 +868 614883 Peroxisome biogenesis disorder 11A (Zellweger) 0.18290477991104126 +869 613235 Factor XIIIB deficiency 0.1828935444355011 +870 613501 Agammaglobulinemia 3, autosomal recessive 0.18261399865150452 +871 614886 Peroxisome biogenesis disorder 12A (Zellweger) 0.18258801102638245 +872 615617 Immunodeficiency 19 0.18256908655166626 +873 613291 Bile acid malabsorption, primary 0.1825656294822693 +874 601709 Quebec platelet disorder 0.1825050711631775 +875 143880 Hypercalcemia, infantile, 1 0.18239909410476685 +876 618126 Liddle syndrome 3 0.18238623440265656 +877 256000 Leigh syndrome 0.18234704434871674 +878 193670 Whim syndrome 0.1822889894247055 +879 619431 Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 0.1822768896818161 +880 606593 LIG4 syndrome 0.18221795558929443 +881 166900 Ovalocytosis, hereditary hemolytic 0.18218708038330078 +882 270970 Spherocytosis, autosomal recessive 0.18218708038330078 +883 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2 0.18217432498931885 +884 137040 Gallbladder, agenesis of 0.18200324475765228 +885 601228 Polyposis syndrome, hereditary mixed, 1 0.18200324475765228 +886 300555 Dent disease 2 0.18197667598724365 +887 619130 Thrombocytopenia, autosomal dominant, 7 0.18155133724212646 +888 613225 Factor XIII, A subunit, deficiency of 0.1815275102853775 +889 244460 Kenny-caffey syndrome, type 1 0.18137043714523315 +890 620282 Immunodeficiency 109 with lymphoproliferation 0.18136382102966309 +891 620125 Pseudohypoaldosteronism, type IB2, autosomal recessive 0.18130138516426086 +892 620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies 0.18110333383083344 +893 225750 Aicardi-Goutieres syndrome 1 0.1810918152332306 +894 617713 Combined oxidative phosphorylation deficiency 33 0.1808982938528061 +895 185500 Supravalvular aortic stenosis 0.18080170452594757 +896 607624 Griscelli syndrome, type 2 0.18078307807445526 +897 154275 Malignant hyperthermia, susceptibility to, 2 0.1807308942079544 +898 227500 Factor VII deficiency 0.18062369525432587 +899 600335 Succinic acidemia 0.18055857717990875 +900 212138 Carnitine-acylcarnitine translocase deficiency 0.1803380846977234 +901 616672 Combined oxidative phosphorylation deficiency 27 0.18029864132404327 +902 615830 Pigmented nodular adrenocortical disease, primary, 4 0.18016740679740906 +903 620639 Osteogenesis imperfecta, type XXIII 0.18014656007289886 +904 608115 Ovarian hyperstimulation syndrome 0.1799645721912384 +905 134750 Felty syndrome 0.17996437847614288 +906 229100 Formiminotransferase deficiency 0.17995837330818176 +907 619126 Immunodeficiency 75 0.17995521426200867 +908 618230 Mitochondrial complex I deficiency, nuclear type 8 0.1799146682024002 +909 619836 Hypoalphalipoproteinemia, primary, 2, intermediate 0.1798590123653412 +910 613490 Alpha-1-Antitrypsin deficiency 0.1798345148563385 +911 616913 Bleeding disorder, platelet-type, 20 0.17977645993232727 +912 615270 Hypogonadotropic hypogonadism 20 with or without anosmia 0.1796409636735916 +913 610329 Aicardi-Goutieres syndrome 3 0.17946510016918182 +914 250620 3-hydroxyisobutryl-CoA hydrolase deficiency 0.17935717105865479 +915 606966 Nephronophthisis 4 0.17931455373764038 +916 614873 Peroxisome biogenesis disorder 7B 0.17931301891803741 +917 260370 Pancreatic agenesis, congenital 0.17913071811199188 +918 249100 Familial Mediterranean fever, AR 0.17906838655471802 +919 618951 Combined oxidative phosphorylation deficiency 45 0.17905329167842865 +920 615596 Congenital disorder of glycosylation, type Iw 0.1789604127407074 +921 118450 Alagille syndrome 1 0.17893485724925995 +922 613861 Retinitis pigmentosa 59 0.17878089845180511 +923 602782 Histiocytosis-lymphadenopathy plus syndrome 0.17871974408626556 +924 614033 Glyoxalase II deficiency 0.17854321002960205 +925 610842 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency 0.1785423308610916 +926 600121 Rhizomelic chondrodysplasia punctata, type 3 0.178490549325943 +927 608184 Immunodeficiency with hyper-IgM, type 4 0.1782684624195099 +928 241530 Hypophosphatemic rickets with hypercalciuria, hereditary 0.1782647669315338 +929 619221 Sulfide:quinone oxidoreductase deficiency 0.1781165450811386 +930 612015 Congenital disorder of glycosylation, type In 0.17808891832828522 +931 232300 Glycogen storage disease II 0.17807894945144653 +932 145750 Hypertriglyceridemia, familial 0.17804685235023499 +933 616329 Maturity-onset diabetes of the young, type 13 0.17795628309249878 +934 615812 Abdominal obesity-metabolic syndrome 3 0.17773433029651642 +935 260450 Pancreatic insufficiency, combined exocrine 0.17757418751716614 +936 166990 Osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia,hydrocephalus, and hypertension 0.1775604486465454 +937 614052 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 0.17755739390850067 +938 269700 Lipodystrophy, congenital generalized, type 2 0.1775132715702057 +939 232400 Glycogen storage disease III 0.17743338644504547 +940 617613 Multiple mitochondrial dysfunctions syndrome 5 0.17732174694538116 +941 619302 Pontocerebellar hypoplasia, type 15 0.17730268836021423 +942 551000 Myopathy, mitochondrial, lethal infantile 0.17699792981147766 +943 620085 Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 0.17698410153388977 +944 614900 Diamond-Blackfan anemia 11 0.17679733037948608 +945 610965 XFE progeroid syndrome 0.17677177488803864 +946 175500 Polyposis, skin pigmentation, alopecia, and fingernail changes 0.17674411833286285 +947 154276 Malignant hyperthermia, susceptibility to, 3 0.1765594184398651 +948 301021 Mitochondrial complex I deficiency, nuclear type 30 0.17647968232631683 +949 619220 Immunodeficiency 78 with autoimmunity and developmental delay 0.17635968327522278 +950 617241 Lung disease, immunodeficiency, and chromosome breakage syndrome 0.1763102412223816 +951 243600 Jejunal atresia 0.17628684639930725 +952 613309 Diamond-blackfan anemia 10 0.17616894841194153 +953 265300 Lymphangiectasia, pulmonary, congenital 0.17608515918254852 +954 277100 VALINEMIA 0.17603358626365662 +955 121300 Coproporphyria 0.17602990567684174 +956 248600 Maple syrup urine disease 0.17600546777248383 +957 614823 Aortic valve disease 2 0.17595314979553223 +958 619902 Hepatorenocardiac degenerative fibrosis 0.17592257261276245 +959 203750 Alpha-methylacetoacetic aciduria 0.17590230703353882 +960 613388 Fanconi renotubular syndrome 2 0.17573243379592896 +961 619322 Marbach-Rustad progeroid syndrome 0.17571589350700378 +962 618253 Mitochondrial complex I deficiency, nuclear type 33 0.1755792498588562 +963 619488 DEGCAGS syndrome 0.1755112111568451 +964 609313 Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 0.1754288375377655 +965 618247 Mitochondrial complex I deficiency, nuclear type 26 0.17527946829795837 +966 614111 Pyruvate dehydrogenase E1-beta deficiency 0.17510049045085907 +967 604377 Mitochondrial complex IV deficiency, nuclear type 2 0.1750270128250122 +968 618955 Retinitis pigmentosa 89 0.17483524978160858 +969 238970 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome 0.1747966706752777 +970 125460 Deoxyribose-5-Phosphate aldolase deficiency 0.17464923858642578 +971 619272 Mitochondrial complex I deficiency, nuclear type 37 0.17463593184947968 +972 242880 Immunoerythromyeloid hypoplasia 0.17460420727729797 +973 608320 Coronary artery disease, autosomal dominant, 1 0.17457836866378784 +974 608233 Hermansky-Pudlak syndrome 2 0.17455708980560303 +975 615607 Immunodeficiency 17 0.17454007267951965 +976 306400 Chronic granulomatous disease, X-linked 0.17452667653560638 +977 620184 Atelis syndrome 1 0.17450305819511414 +978 608782 Pyruvate dehydrogenase phosphatase deficiency 0.17448534071445465 +979 600802 Scid, autosomal recessive, T-Negative/b-Positive type 0.17445001006126404 +980 619489 Short stature, Dauber-Argente type 0.17444972693920135 +981 619054 Mitochondrial complex IV deficiency, nuclear type 11 0.1743934154510498 +982 264700 Vitamin D hydroxylation-deficient rickets, type 1A 0.1742345690727234 +983 615418 Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) 0.17416897416114807 +984 619065 Mitochondrial complex IV deficiency, nuclear type 21 0.1741238683462143 +985 615399 Paroxysmal nocturnal hemoglobinuria 2 0.17412178218364716 +986 236750 Hydrops fetalis, nonimmune 0.1740599125623703 +987 615471 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 0.17383359372615814 +988 614462 Hyperglycinemia, lactic acidosis, and seizures 0.17367367446422577 +989 615592 Immunodeficiency 15 0.17366263270378113 +990 144250 Hyperlipidemia, familial combined, 3 0.17364472150802612 +991 250250 Cartilage-hair hypoplasia 0.17361785471439362 +992 619405 Spinocerebellar ataxia, autosomal recessive 30 0.1735684871673584 +993 615355 Noonan syndrome 8 0.1734468638896942 +994 619813 Neutropenia, severe congenital, 9, autosomal dominant 0.17317700386047363 +995 618500 Holoprosencephaly 12 with or without pancreatic agenesis 0.17314694821834564 +996 307800 Hypophosphatemic rickets, X-linked dominant 0.17307952046394348 +997 618986 Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia 0.17300651967525482 +998 619835 3-methylglutaconic aciduria, type VIIA, autosomal dominant 0.17296062409877777 +999 614164 Glutathione peroxidase deficiency 0.17279422283172607 +1000 619167 Mitochondrial complex II deficiency, nuclear type 3 0.17277495563030243 +1001 181750 Scleroderma, familial progressive 0.17270223796367645 +1002 614388 Encephalopathy due to defective mitochondrial and peroxisomal fission 1 0.17247475683689117 +1003 615269 Hypogonadotropic hypogonadism 19 with or without anosmia 0.17246215045452118 +1004 615272 Fanconi anemia, complementation group Q 0.17242775857448578 +1005 246200 Donohue syndrome 0.17242032289505005 +1006 619060 Mitochondrial complex IV deficiency, nuclear type 16 0.17241711914539337 +1007 613385 Autoimmune disease, multisystem, with facial dysmorphism 0.17241665720939636 +1008 278300 Xanthinuria, type I 0.17239761352539062 +1009 614025 Hepatic lipase deficiency 0.1723889410495758 +1010 124900 Deafness, autosomal dominant 1 0.17234358191490173 +1011 181000 Sarcoidosis, susceptibility to, 1 0.17229674756526947 +1012 612783 Immunodeficiency 10 0.17228539288043976 +1013 618005 Congenital disorder of glycosylation with defective fucosylation 1 0.17225950956344604 +1014 614200 Bleeding disorder, platelet-type, 9 0.1721430867910385 +1015 609465 Al-Gazali syndrome 0.17204752564430237 +1016 617954 Multiple mitochondrial dysfunctions syndrome 6 0.17192111909389496 +1017 618987 Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia 0.17174184322357178 +1018 610251 Alcohol sensitivity, acute 0.1716783046722412 +1019 614097 Acatalasemia 0.1716780662536621 +1020 618165 Bone marrow failure syndrome 5 0.17164181172847748 +1021 615426 Amyotrophic lateral sclerosis 20 0.1715572625398636 +1022 615980 Lipodystrophy, familial partial, type 6 0.17148354649543762 +1023 619751 Stuve-Wiedemann syndrome 2 0.17143483459949493 +1024 617222 Sudden cardiac failure, infantile 0.1714124083518982 +1025 618463 Hypoalphalipoproteinemia, primary, 2 0.17134898900985718 +1026 243910 Arima syndrome 0.17130333185195923 +1027 614493 Wiskott-Aldrich syndrome 2 0.1712374985218048 +1028 175200 Peutz-Jeghers syndrome 0.17106063663959503 +1029 616589 Adams-Oliver syndrome 6 0.17100432515144348 +1030 143890 Hypercholesterolemia, familial, 1 0.1709640473127365 +1031 618392 Spondyloepiphyseal dysplasia, Kondo-Fu type 0.17080800235271454 +1032 618114 Liddle syndrome 2 0.17061938345432281 +1033 620067 Cardiac valvular dysplasia 2 0.17054049670696259 +1034 603041 Mitochondrial DNA depletion syndrome 1 (MNGIE type) 0.17053177952766418 +1035 206300 Anemia, nonspherocytic hemolytic, associated with abnormality of redcell membrane 0.17051243782043457 +1036 211890 Campomelia, Cumming type 0.1704532504081726 +1037 616553 Dyskeratosis congenita, autosomal dominant 6 0.17015931010246277 +1038 201470 Acyl-Coa dehydrogenase, short-chain, deficiency of 0.17013897001743317 +1039 615862 Nephronophthisis 18 0.17009800672531128 +1040 606996 Senior-Loken syndrome 4 0.16986864805221558 +1041 618907 Silver-Russell syndrome 4 0.16979475319385529 +1042 140700 Heinz body anemias 0.16979171335697174 +1043 616028 Adams-Oliver syndrome 5 0.16970981657505035 +1044 137100 Immunoglobulin A deficiency 1 0.16969527304172516 +1045 620045 Intestinal dysmotility syndrome 0.1696869432926178 +1046 301082 Immunodeficiency 102 0.16966940462589264 +1047 260920 Hyper-Igd syndrome 0.16966257989406586 +1048 604928 Wolfram syndrome 2 0.16965940594673157 +1049 193400 Von willebrand disease, type 1 0.16963410377502441 +1050 263800 Gitelman syndrome 0.16931350529193878 +1051 613951 Fanconi anemia, complementation group P 0.16923747956752777 +1052 615190 Dyskeratosis congenita, autosomal recessive 5 0.16917464137077332 +1053 614053 Mitochondrial complex V (atp synthase) deficiency, nuclear type 3 0.16914917528629303 +1054 613877 Lipodystrophy, familial partial, type 4 0.1690969169139862 +1055 277450 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 0.1690339595079422 +1056 600785 Vitamin D-dependent rickets type 2B with normal vitamin D receptor 0.16902364790439606 +1057 616229 Osteogenesis imperfecta, type XVI 0.16899797320365906 +1058 614495 Pseudohypoaldosteronism, type IID 0.1689702570438385 +1059 166600 Osteopetrosis, autosomal dominant 2 0.16886982321739197 +1060 167250 Paget disease of bone 3 0.16873648762702942 +1061 614075 Hermansky-Pudlak syndrome 6 0.16871137917041779 +1062 208530 Right atrial isomerism (Ivemark) 0.1686980277299881 +1063 252900 Mucopolysaccharidosis type IIIA 0.16864636540412903 +1064 235550 Hepatic venoocclusive disease with immunodeficiency 0.1686358004808426 +1065 612631 Adenylate kinase deficiency, hemolytic anemia due to 0.16839897632598877 +1066 172150 6-@phosphogluconolactonase deficiency 0.16839897632598877 +1067 618243 Mitochondrial complex I deficiency, nuclear type 22 0.16833831369876862 +1068 223340 Dk phocomelia syndrome 0.16814304888248444 +1069 260530 Parana hard-skin syndrome 0.16809256374835968 +1070 606762 Hyperinsulinemic hypoglycemia, familial, 6 0.1680724173784256 +1071 614441 Hypertrophic osteoarthropathy, primary, autosomal recessive 2 0.16801144182682037 +1072 606664 GLYCINE N-METHYLTRANSFERASE DEFICIENCY 0.167989581823349 +1073 617014 Neutropenia, severe congenital, 7, autosomal recessive 0.16798490285873413 +1074 607236 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration 0.1679559350013733 +1075 602475 Ossification of the posterior longitudinal ligament of spine 0.16783398389816284 +1076 170900 Pernicious anemia 0.1678110510110855 +1077 259750 Osteoporosis, juvenile 0.16775329411029816 +1078 201475 Very long-chain acyl-CoA dehydrogenase deficiency 0.1677454560995102 +1079 209970 Beemer lethal malformation syndrome 0.16772662103176117 +1080 615767 Immunodeficiency, common variable, 11 0.16770875453948975 +1081 620321 C1q deficiency 2 0.16754187643527985 +1082 618232 Mitochondrial complex I deficiency, nuclear type 9 0.1674754023551941 +1083 608600 Lipodystrophy, familial partial, type 1 0.16739924252033234 +1084 174000 Tubulointerstitial kidney disease, autosomal dominant, 2 0.16738781332969666 +1085 616577 Epilepsy, hearing loss, and mental retardation syndrome 0.16725187003612518 +1086 268800 Sandhoff disease 0.16725066304206848 +1087 619239 Neurodevelopmental disorder with or without autism or seizures 0.1672491878271103 +1088 208300 Ascites, chylous 0.16720448434352875 +1089 259900 Hyperoxaluria, primary, type I 0.16704098880290985 +1090 619059 Mitochondrial complex IV deficiency, nuclear type 15 0.1670120805501938 +1091 137920 Renal cysts and diabetes syndrome 0.16692472994327545 +1092 265500 Pulmonic stenosis 0.16688309609889984 +1093 617668 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 0.16687612235546112 +1094 301072 Neurodevelopmental disorder with epilepsy and hemochromatosis 0.16680683195590973 +1095 607594 Immunodeficiency, common variable, 1 0.16676592826843262 +1096 619281 Immunodeficiency 14B, autosomal recessive 0.16653697192668915 +1097 245480 Specific granule deficiency 0.16631485521793365 +1098 266920 Short-rib thoracic dysplasia 9 with or without polydactyly 0.16630370914936066 +1099 242520 Ichthyosis, hepatosplenomegaly, and cerebellar degeneration 0.16630196571350098 +1100 254450 Myelofibrosis with myeloid metaplasia, somatic 0.16627103090286255 +1101 600501 ABCD syndrome 0.16624395549297333 +1102 615954 ACTH-independent macronodular adrenal hyperplasia 2 0.16617724299430847 +1103 619111 Coach syndrome 2 0.16614899039268494 +1104 618249 Mitochondrial complex I deficiency, nuclear type 28 0.1661318987607956 +1105 619437 Immunodeficiency 84 0.16609719395637512 +1106 252920 Mucopolysaccharidosis type IIIB 0.16600890457630157 +1107 608154 Lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones 0.16584458947181702 +1108 618120 Mitochondrial complex V (ATP synthase) deficiency nuclear type 5 0.16579937934875488 +1109 618108 Immunodeficiency 57 0.16568580269813538 +1110 611762 Familial cold autoinflammatory syndrome 2 0.16553397476673126 +1111 606263 Paget disease of bone 4 0.16546665132045746 +1112 600995 Nephrotic syndrome, type 2 0.1653551161289215 +1113 618245 Mitochondrial complex I deficiency, nuclear type 24 0.16534219682216644 +1114 618666 Sitosterolemia 2 0.16531191766262054 +1115 618187 Ovarian dysgenesis 8 0.16531002521514893 +1116 177200 Liddle syndrome 1 0.16528940200805664 +1117 187300 Telangiectasia, hereditary hemorrhagic, type 1 0.16525323688983917 +1118 618882 Imerslund-Grasbeck syndrome 2 0.16516245901584625 +1119 614723 Adenine phosphoribosyltransferase deficiency 0.16494892537593842 +1120 212050 Candidiasis, familial chronic mucocutaneous, autosomal recessive 0.16479872167110443 +1121 619164 Immunodeficiency 76 0.16473837196826935 +1122 203740 Oxoglutarate dehydrogenase deficiency 0.16472361981868744 +1123 169400 Pelger-Huet anomaly 0.1645868569612503 +1124 266900 Senior-Loken syndrome 1 0.1645778864622116 +1125 232900 Glycoprotein storage disease 0.1644124835729599 +1126 617339 Epileptic encephalopathy, early infantile, 51 0.1643211990594864 +1127 620044 Bone marrow failure and diabetes mellitus syndrome 0.1643078774213791 +1128 618015 Protoporphyria, erythropoietic, 2 0.16423067450523376 +1129 209770 Aural atresia, multiple congenital anomalies, and mental retardation 0.1642099767923355 +1130 275000 Graves disease 0.16411751508712769 +1131 615750 Moyamoya disease 6 with achalasia 0.1637902408838272 +1132 617069 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 0.16357867419719696 +1133 193300 von Hippel-Lindau syndrome 0.1635475754737854 +1134 617710 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 0.1633540242910385 +1135 615363 Estrogen resistance 0.16329605877399445 +1136 166210 Osteogenesis imperfecta, type II 0.1632416546344757 +1137 613677 Hyperaldosteronism, familial, type III 0.16322827339172363 +1138 230500 GM1-gangliosidosis, type I 0.16314078867435455 +1139 620195 Obesity and hypopigmentation 0.16310042142868042 +1140 614675 Bone marrow failure syndrome 1 0.16309165954589844 +1141 238340 HYPERLEUCINE-ISOLEUCINEMIA 0.1630753129720688 +1142 608189 Tropical calcific pancreatitis 0.1630447953939438 +1143 615271 Hypogonadotropic hypogonadism 21 with or without anosmia 0.162918359041214 +1144 604901 North american indian childhood cirrhosis 0.16291341185569763 +1145 602088 Nephronophthisis 2 0.16289857029914856 +1146 178600 Pulmonary hypertension, primary, 1 0.16281220316886902 +1147 277440 Rickets, vitamin D-resistant, type IIA 0.16271287202835083 +1148 616034 2,4-dienoyl-CoA reductase deficiency 0.16263294219970703 +1149 614037 Leukotriene C4 synthase deficiency 0.16262231767177582 +1150 200995 Acrocephalopolydactylous dysplasia 0.1626199334859848 +1151 616622 Immunodeficiency 42 0.1623818427324295 +1152 614885 Peroxisome biogenesis disorder 11B 0.1621067076921463 +1153 613161 Beta-ureidopropionase deficiency 0.16207355260849 +1154 611721 Combined saposin deficiency 0.16199849545955658 +1155 305000 Dyskeratosis congenita, X-linked 0.16183657944202423 +1156 615468 Immunodeficiency 12 0.16182783246040344 +1157 613154 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 0.16179199516773224 +1158 188400 Digeorge syndrome 0.16164405643939972 +1159 607941 Atrial septal defect 2 0.1616433709859848 +1160 233600 Immunodeficiency 59 and hypoglycemia 0.16156862676143646 +1161 613751 Heterotaxy, visceral, 4, autosomal 0.16150161623954773 +1162 610600 Hypoaldosteronism, congenital, due to CMO II deficiency 0.16143573820590973 +1163 614171 Hermansky-Pudlak syndrome 9 0.16139467060565948 +1164 208500 Short-Rib thoracic dysplasia 1 with or without polydactyly 0.1613892763853073 +1165 610733 Noonan syndrome 4 0.16135187447071075 +1166 609820 Erythrocytosis, familial, 3 0.16134630143642426 +1167 614224 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis 0.1613336205482483 +1168 606407 Hypotonia-cystinuria syndrome 0.1612662672996521 +1169 619406 Hypokalemic tubulopathy and deafness 0.16122642159461975 +1170 309000 Lowe syndrome 0.1611994206905365 +1171 178650 Pulmonic stenosis, atrial septal defect, and unique electrocardiographicabnormalities 0.1611909568309784 +1172 234250 Hall-Riggs mental retardation syndrome 0.16117313504219055 +1173 611376 Mungan syndrome 0.1611432284116745 +1174 613496 Immunodeficiency, common variable, 6 0.16107064485549927 +1175 618624 Noonan syndrome 12 0.16099190711975098 +1176 203800 Alstrom syndrome 0.16081418097019196 +1177 612933 Glycogen storage disease XI 0.16075573861598969 +1178 614699 Immunodeficiency, common variable, 7 0.16069760918617249 +1179 619510 Immunodeficiency 85 and autoimmunity 0.1606597602367401 +1180 618236 Mitochondrial complex I deficiency, nuclear type 14 0.16060785949230194 +1181 263200 Polycystic kidney disease 4 with or without polycystic liver disease 0.16045916080474854 +1182 602114 Nephropathy, progressive tubulointerstitial, with cholestatic liverdisease 0.16045740246772766 +1183 614859 Peroxisome biogenesis disorder 3A (Zellweger) 0.1603798121213913 +1184 618606 Pontocerebellar hypoplasia, type 13 0.1602616012096405 +1185 267000 Perlman syndrome 0.16026027500629425 +1186 618156 Squalene synthase deficiency 0.16018469631671906 +1187 166710 OSTEOPOROSIS 0.16002802550792694 +1188 616276 Coenzyme Q10 deficiency, primary, 7 0.15985602140426636 +1189 617004 Polycystic liver disease 2 0.15941549837589264 +1190 220120 D-glyceric aciduria 0.1593734622001648 +1191 616833 Paget disease of bone 6 0.15934044122695923 +1192 618982 Immunodeficiency 72 with autoinflammation 0.15931694209575653 +1193 210740 Bangstad syndrome 0.15926241874694824 +1194 617913 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 0.1591949462890625 +1195 614073 Hermansky-Pudlak syndrome 4 0.1590675264596939 +1196 226600 Epidermolysis bullosa dystrophica, autosomal recessive 0.1590522676706314 +1197 216360 Coach syndrome 1 0.1590043306350708 +1198 144010 Hypercholesterolemia, familial, 2 0.15896165370941162 +1199 212800 Cephalin lipidosis 0.15871956944465637 +1200 610968 Osteogenesis imperfecta, type XI 0.1586361527442932 +1201 127100 Dwarfism, Levi type 0.15856020152568817 +1202 202110 Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency 0.15854501724243164 +1203 608594 Lipodystrophy, congenital generalized, type 1 0.15846873819828033 +1204 618780 Congenital heart defects, multiple types, 7 0.15835356712341309 +1205 144300 Hyperlipoproteinemia, type II, and deafness 0.15831167995929718 +1206 618660 Hemolytic anemia due to glutathione reductase deficiency 0.15825386345386505 +1207 142680 Periodic fever, familial, autosomal dominant 0.15824183821678162 +1208 609734 Obesity, early-onset, with adrenal insufficiency and red hair 0.1581839621067047 +1209 137280 Gastritis, familial giant hypertrophic 0.1578637808561325 +1210 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 0.15782573819160461 +1211 251950 Mitochondrial myopathy with lactic acidosis 0.1577901691198349 +1212 252605 Mucolipidosis III gamma 0.15775389969348907 +1213 179800 Renal tubular acidosis, distal, autosomal dominant 0.1575726419687271 +1214 610582 Diabetes mellitus, transient neonatal, 3 0.15746739506721497 +1215 616209 Myopathy, isolated mitochondrial, autosomal dominant 0.15726470947265625 +1216 615501 Molybdenum cofactor deficiency, complementation group C 0.15693680942058563 +1217 618460 Khan-Khan-Katsanis syndrome 0.15689057111740112 +1218 610717 Neutral lipid storage disease with myopathy 0.1568463295698166 +1219 616267 Ataxia-oculomotor apraxia 4 0.15672673285007477 +1220 620121 Iron overload, susceptibility to 0.15662707388401031 +1221 253010 Mucopolysaccharidosis type IVB (Morquio) 0.15633967518806458 +1222 245650 Larsen-like syndrome, Lethal type 0.15623395144939423 +1223 619127 Mandibuloacral dysplasia progeroid syndrome 0.15611322224140167 +1224 245050 Succinyl CoA:3-oxoacid CoA transferase deficiency 0.1560370773077011 +1225 243150 Gastrointestinal defects and immunodeficiency syndrome 0.15600772202014923 +1226 254700 Myeloproliferative disease, autosomal recessive 0.15598565340042114 +1227 617883 Fanconi anemia, complementation group S 0.1559298038482666 +1228 601665 OBESITY 0.15584996342658997 +1229 611209 Congenital disorder of glycosylation, type IIg 0.1557442992925644 +1230 301083 Hemolytic anemia due to elevated adenosine deaminase 0.15573592483997345 +1231 271225 Spinal muscular atrophy, type I, with congenital bone fractures 0.1557084023952484 +1232 222765 Rhizomelic chondrodysplasia punctata, type 2 0.15568234026432037 +1233 616511 Maturity-onset diabetes of the young, type 14 0.15553532540798187 +1234 614196 Nephrotic syndrome, type 6 0.15552844107151031 +1235 617389 Epileptic encephalopathy, early infantile, 53 0.15549038350582123 +1236 300884 Epileptic encephalopathy, early infantile, 36 0.15548454225063324 +1237 218330 Cranioectodermal dysplasia 0.15514209866523743 +1238 618188 Hyperparathyroidism, transient neonatal 0.15506812930107117 +1239 617994 Tumoral calcinosis, hyperphosphatemic, familial, 3 0.15501776337623596 +1240 540000 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 0.15492981672286987 +1241 607906 Congenital disorder of glycosylation, type Ii 0.1549074500799179 +1242 213700 Cerebrotendinous xanthomatosis 0.15488341450691223 +1243 616878 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 0.1548750102519989 +1244 612089 Hypophosphatemic rickets and hyperparathyroidism 0.15481963753700256 +1245 618225 Mitochondrial complex I deficiency, nuclear type 4 0.1547471284866333 +1246 249500 Intellectual developmental disorder, autosomal recessive 1 0.15471872687339783 +1247 606785 Crigler-najjar syndrome, type II 0.15460172295570374 +1248 237550 Hyperbilirubinemia, conjugated, type III 0.15460172295570374 +1249 301000 Wiskott-Aldrich syndrome 0.154575914144516 +1250 618857 Diabetes mellitus, permanent neonatal 3, with or without neurologic features 0.1545705795288086 +1251 301081 Autoinflammatory disease, systemic, X-linked 0.15432199835777283 +1252 106100 Angioedema, hereditary, 1 0.15404823422431946 +1253 142309 Hemoglobin-Variants for which the chain carrying the mutation isunknown or uncertain 0.15384306013584137 +1254 601495 Agammaglobulinemia 1, autosomal recessive 0.1537819653749466 +1255 618541 Hypopigmentation, organomegaly, and delayed myelination and development 0.15375101566314697 +1256 178651 Pulmonic stenosis and deafness 0.15371643006801605 +1257 616045 Combined oxidative phosphorylation deficiency 22 0.15365798771381378 +1258 605019 Hypobetalipoproteinemia, familial, 2 0.1536027044057846 +1259 616138 Perrault syndrome 5 0.15357214212417603 +1260 176000 Porphyria, acute intermittent 0.15353724360466003 +1261 618189 Cardiomyopathy, dilated, 2C 0.15350331366062164 +1262 271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 0.15344774723052979 +1263 619846 Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias 0.1531652808189392 +1264 608799 Congenital disorder of glycosylation, type IE 0.15306349098682404 +1265 149000 Klippel-Trenaunay-Weber syndrome 0.15300394594669342 +1266 205700 Anemia, autoimmune hemolytic 0.15293940901756287 +1267 600880 Budd-Chiari syndrome 0.1528979241847992 +1268 612782 Immunodeficiency 9 0.15286855399608612 +1269 614325 Pitt-Hopkins-Like syndrome 2 0.15283438563346863 +1270 613854 Congenital heart defects, multiple types, 6 0.15281808376312256 +1271 614328 Inflammatory skin and bowel disease, neonatal, 1 0.15278780460357666 +1272 615422 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 0.15271544456481934 +1273 602557 Spondyloepimetaphyseal dysplasia, Shohat type 0.15269649028778076 +1274 241600 Immunodeficiency 43 0.15253660082817078 +1275 137950 Glomerulopathy with fibronectin deposits 1 0.15243323147296906 +1276 620211 Hyperinsulinemic hypoglycemia, familial, 8 0.15236464142799377 +1277 600546 Intrauterine growth retardation with increased mitomycin C sensitivity 0.15222229063510895 +1278 223100 Lactase persistence/nonpersistence 0.15199699997901917 +1279 277320 Visceral myopathy, familial, with external ophthalmoplegia 0.15190887451171875 +1280 275370 Tricarboxylic acid cycle, defect of 0.1518842577934265 +1281 261740 Glycogen storage disease of heart, lethal congenital 0.1518213003873825 +1282 614880 Hypogonadotropic hypogonadism 15 with or without anosmia 0.15175336599349976 +1283 612379 Congenital disorder of glycosylation, type IQ 0.1517408937215805 +1284 250950 3-methylglutaconic aciduria, type I 0.15172260999679565 +1285 606164 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis 0.1516939401626587 +1286 300934 Congenital disorder of glycosylation, type Iy 0.15158820152282715 +1287 545000 Myoclonic epilepsy associated with ragged-red fibers 0.1514488011598587 +1288 251850 Diarrhea 2, with microvillous atrophy 0.15125887095928192 +1289 618042 Pulmonary alveolar proteinosis with hypogammaglobulinemia 0.15121446549892426 +1290 619004 Deeah syndrome 0.1511259377002716 +1291 617744 Immunodeficiency, developmental delay, and hypohomocysteinemia 0.1510627418756485 +1292 166260 Gnathodiaphyseal dysplasia 0.1510205864906311 +1293 613038 Pituitary hormone deficiency, combined, 1 0.15101280808448792 +1294 176690 Progeroid short stature with pigmented nevi 0.15100730955600739 +1295 614038 Lymphedema, primary, with myelodysplasia 0.15096375346183777 +1296 614072 Hermansky-Pudlak syndrome 3 0.15086880326271057 +1297 614877 Peroxisome biogenesis disorder 8B 0.15085534751415253 +1298 256450 Hyperinsulinemic hypoglycemia, familial, 1 0.15079759061336517 +1299 306900 Hemophilia B 0.15079712867736816 +1300 615917 Combined oxidative phosphorylation deficiency 20 0.1507888287305832 +1301 617585 Immunodeficiency 53 0.15074926614761353 +1302 617070 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 0.1507004350423813 +1303 607721 Noonan syndrome-like with loose anagen hair 1 0.15061531960964203 +1304 300622 Tn polyagglutination syndrome 0.15060244500637054 +1305 231050 Geleophysic dysplasia 1 0.15056850016117096 +1306 617343 Hyperparathyroidism 4 0.15051311254501343 +1307 616395 Trichothiodystrophy 3, photosensitive 0.1504496932029724 +1308 236800 Hydroxykynureninuria 0.15044108033180237 +1309 607685 Hypereosinophilic syndrome, idiopathic 0.15040914714336395 +1310 616963 Hypercalcemia, infantile 2 0.15029005706310272 +1311 237900 Hyperbilirubinemia, familial transient neonatal 0.15012870728969574 +1312 272300 SULFOCYSTEINURIA 0.1500624567270279 +1313 614862 Peroxisome biogenesis disorder 4A (Zellweger) 0.15005528926849365 +1314 183020 Spinal muscular atrophy, segmental 0.14998804032802582 +1315 603585 Congenital disorder of glycosylation, type IIf 0.14993615448474884 +1316 618881 Galactosemia IV 0.14992035925388336 +1317 601277 Ichthyosis, congenital, autosomal recessive 4A 0.14980772137641907 +1318 616897 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 0.14979447424411774 +1319 619367 Angioedema, hereditary, 8 0.14977985620498657 +1320 613559 Combined oxidative phosphorylation deficiency 7 0.14977692067623138 +1321 619062 Mitochondrial complex IV deficiency, nuclear type 18 0.14977367222309113 +1322 607015 Hurler-Scheie syndrome 0.14969058334827423 +1323 608149 Kagami-Ogata syndrome 0.14955495297908783 +1324 617609 Nephrotic syndrome, type 15 0.14951324462890625 +1325 614429 Ventricular septal defect 1 0.14932245016098022 +1326 610768 Congenital disorder of glycosylation, type Im 0.149175763130188 +1327 615745 Atrial standstill 2 0.14909207820892334 +1328 260570 Immunodeficiency 108 with autoinflammation 0.14908692240715027 +1329 132900 Aortic aneurysm, familial thoracic 4 0.14903657138347626 +1330 242860 Immunodeficiency-Centromeric instability-facial anomalies syndrome 0.14900343120098114 +1331 214110 Peroxisome biogenesis disorder 2A (Zellweger) 0.14890527725219727 +1332 619005 Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia 0.14887404441833496 +1333 614158 Bleeding disorder, platelet-type, 14 0.1488369256258011 +1334 612016 Coenzyme Q10 deficiency, primary, 4 0.14877179265022278 +1335 614338 Pancreatic lipase deficiency 0.14857542514801025 +1336 230000 Fucosidosis 0.14853818714618683 +1337 620152 Hypomagnesemia 7, renal, with or without dilated cardiomyopathy 0.1484983116388321 +1338 614872 Peroxisome biogenesis disorder 7A (zellweger) 0.14846311509609222 +1339 618908 Silver-Russell syndrome 5 0.14827173948287964 +1340 269300 Craniometadiaphyseal dysplasia 0.148256316781044 +1341 619795 Osteogenesis imperfecta, type XXII 0.14822086691856384 +1342 614083 Fanconi anemia, complementation group L 0.1482204794883728 +1343 619981 Braddock-Carey syndrome 2 0.14809179306030273 +1344 616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 0.14803056418895721 +1345 618240 Mitochondrial complex I deficiency, nuclear type 18 0.1479620784521103 +1346 600072 Fatal familial insomnia 0.14793828129768372 +1347 191800 Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT 0.1478661149740219 +1348 608709 Lipodystrophy, partial, acquired, susceptibility to 0.14752383530139923 +1349 610475 Pigmented nodular adrenocortical disease, primary, 2 0.1475105881690979 +1350 616298 Singleton-Merten syndrome 2 0.1474567949771881 +1351 615330 Multiple mitochondrial dysfunctions syndrome 3 0.1472967118024826 +1352 603776 Hypercholesterolemia, familial, 3 0.14723369479179382 +1353 618416 Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 0.147220179438591 +1354 606070 Amyotrophic lateral sclerosis 21 0.14720098674297333 +1355 613205 LMNA-related congenital muscular dystrophy 0.14717549085617065 +1356 273120 Teratoma, pineal 0.1471317559480667 +1357 145590 Hyperthermia, cutaneous, with headaches and nausea 0.14687784016132355 +1358 608747 Insulin-Like growth factor I deficiency 0.14685849845409393 +1359 618855 Combined oxidative phosphorylation deficiency 44 0.14672572910785675 +1360 253310 Lethal congenital contracture syndrome 1 0.1466192901134491 +1361 616353 Dyskeratosis congenita, autosomal recessive 6 0.14637766778469086 +1362 268200 Myoglobinuria, acute recurrent, autosomal recessive 0.1463693082332611 +1363 194320 Woronets trait 0.14633499085903168 +1364 313900 Thrombocytopenia 1 0.14629985392093658 +1365 619483 Central hypoventilation syndrome, congenital, 3 0.1462988406419754 +1366 614131 Focal segmental glomerulosclerosis 6 0.14621666073799133 +1367 264470 Peroxisomal acyl-CoA oxidase deficiency 0.14620259404182434 +1368 218800 Crigler-Najjar syndrome, type I 0.14617791771888733 +1369 614491 Pseudohypoaldosteronism, type IIB 0.14614062011241913 +1370 618440 Oculoskeletodental syndrome 0.1460302770137787 +1371 618244 Mitochondrial complex I deficiency, nuclear type 23 0.14598876237869263 +1372 618268 Trichohepatoneurodevelopmental syndrome 0.14593052864074707 +1373 253200 Mucopolysaccharidosis, type VI 0.1458757072687149 +1374 252150 Molybdenum cofactor deficiency, complementation group A 0.145796537399292 +1375 235370 Hemolytic anemia with thermal sensitivity of red cells 0.1457706093788147 +1376 615935 Pancreatic agenesis 2 0.14572080969810486 +1377 616277 Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 0.1456635296344757 +1378 219900 Cystinosis, late-onset juvenile or adolescent nephropathic 0.14553463459014893 +1379 614473 Arterial calcification, generalized, of infancy, 2 0.14552512764930725 +1380 604173 Poikiloderma with neutropenia 0.1454601287841797 +1381 618702 Short stature and microcephaly with genital anomalies 0.14540249109268188 +1382 611523 Pontocerebellar hypoplasia, type 6 0.14531093835830688 +1383 601813 Exudative vitreoretinopathy 4 0.14529471099376678 +1384 619702 Heterotaxy, visceral, 12, autosomal 0.14521190524101257 +1385 616239 Combined oxidative phosphorylation deficiency 24 0.14514859020709991 +1386 616811 Combined oxidative phosphorylation deficiency 29 0.14512759447097778 +1387 122850 Cranioacrofacial syndrome 0.14510315656661987 +1388 126850 Duodenal ulcer, hyperpepsinogenemic I 0.1450851559638977 +1389 610725 Nephrotic syndrome, type 3 0.1450457125902176 +1390 616684 Charcot-Marie-Tooth disease, type 4K 0.1450175940990448 +1391 274000 Thrombocytopenia-absent radius syndrome 0.14494231343269348 +1392 614819 Weill-Marchesani syndrome 3 0.14493174850940704 +1393 615513 Immunodeficiency 14 0.14489148557186127 +1394 274270 Dihydropyrimidine dehydrogenase deficiency 0.14486563205718994 +1395 174810 Familial expansile osteolysis 0.14486107230186462 +1396 143470 Hyperalphalipoproteinemia 1 0.14484353363513947 +1397 618162 Spondyloepimetaphyseal dysplasia, Krakow type 0.14482904970645905 +1398 252500 Mucolipidosis II alpha/beta 0.14482170343399048 +1399 141749 Fetal hemoglobin quantitative trait locus 1 0.1447935700416565 +1400 300400 Severe combined immunodeficiency, X-linked 0.14470075070858002 +1401 612394 Bone fragility with contractures, arterial rupture, and deafness 0.14458522200584412 +1402 614008 Nestor-Guillermo progeria syndrome 0.14451485872268677 +1403 268130 Revesz syndrome 0.14448311924934387 +1404 616576 Immunodeficiency, common variable, 12 0.14446263015270233 +1405 615273 Congenital disorder of deglycosylation 1 0.14431177079677582 +1406 188580 Thyrotoxic periodic paralysis, susceptibility to, 1 0.14412729442119598 +1407 615962 Glucocorticoid resistance 0.1440640091896057 +1408 619123 Cardiofacioneurodevelopmental syndrome 0.14405564963817596 +1409 618462 Bleeding disorder, platelet-type, 22 0.14404639601707458 +1410 601539 Peroxisome biogenesis disorder 1B 0.14403484761714935 +1411 223200 Disorganization, mouse, homolog of 0.14393103122711182 +1412 613668 Microcephaly, postnatal progressive, with seizures and brain atrophy 0.14392952620983124 +1413 619115 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 0.14391931891441345 +1414 607250 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 0.14386461675167084 +1415 306955 Heterotaxy, visceral, 1, X-linked 0.14386200904846191 +1416 618451 Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 0.14382217824459076 +1417 226980 Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 0.14377644658088684 +1418 609220 Bruck syndrome 2 0.14377319812774658 +1419 221400 Deafness, nerve type, with mesenteric diverticula of small bowel andprogressive sensory neuropathy 0.14376302063465118 +1420 601820 Hyperinsulinemic hypoglycemia, familial, 2 0.14361940324306488 +1421 614212 Encephalopathy, acute, infection-induced, susceptibility to, 4 0.14360646903514862 +1422 614299 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 0.1435685008764267 +1423 620370 RECON progeroid syndrome 0.14353419840335846 +1424 613676 Seckel syndrome 4 0.14349398016929626 +1425 616006 Hennekam lymphangiectasia-lymphedema syndrome 2 0.1434880644083023 +1426 613118 Antithrombin III deficiency 0.14346887171268463 +1427 268250 Rhizomelic syndrome 0.14346365630626678 +1428 617784 Fanconi anemia, complementation group W 0.1433626115322113 +1429 620275 Mitochondrial complex IV deficiency, nuclear type 23 0.14335443079471588 +1430 619518 Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome 0.1432744562625885 +1431 214150 Cerebrooculofacioskeletal syndrome 1 0.14325931668281555 +1432 604320 Spinal muscular atrophy, distal, autosomal recessive, 1 0.1431700587272644 +1433 301015 Hemolytic anemia, congenital, X-linked 0.14295773208141327 +1434 238700 Hyperlysinemia, type I 0.14292819797992706 +1435 614101 Plasma fibronectin deficiency 0.14288583397865295 +1436 230200 Galactokinase deficiency 0.14285972714424133 +1437 617800 Microcephaly 19, primary, autosomal recessive 0.1428501456975937 +1438 614074 Hermansky-Pudlak syndrome 5 0.1428184062242508 +1439 600955 Proprotein convertase 1/3 deficiency 0.1427173912525177 +1440 619446 Retinal dystrophy and microvillus inclusion disease 0.14257597923278809 +1441 238750 Hyperlysinuria with hyperammonemia 0.14253711700439453 +1442 274240 Thyrocerebroretinal syndrome 0.142487034201622 +1443 249670 Mesoaxial hexadactyly and cardiac malformation 0.14246365427970886 +1444 616005 Immunodeficiency 36 0.1423681229352951 +1445 217090 Plasminogen deficiency, type I 0.14236244559288025 +1446 612356 Heparin cofactor II deficiency 0.1423315405845642 +1447 270400 Smith-Lemli-Opitz syndrome 0.1423301249742508 +1448 500001 Leber optic atrophy and dystonia 0.14229829609394073 +1449 618885 Congenital disorder of glycosylation, type IIt 0.14220941066741943 +1450 614185 Geleophysic dysplasia 2 0.14220143854618073 +1451 610628 Hypogonadotropic hypogonadism 4 with or without anosmia 0.14217746257781982 +1452 607578 Breath-Holding spells 0.1421748399734497 +1453 617827 Immunodeficiency 55 0.14216651022434235 +1454 616200 Ruijs-Aalfs syndrome 0.14215725660324097 +1455 208900 Ataxia-telangiectasia 0.14203445613384247 +1456 602433 Amyotrophic lateral sclerosis 4, juvenile 0.14187847077846527 +1457 613662 Mitochondrial DNA depletion syndrome 4B (mngie type) 0.14181160926818848 +1458 613177 Cutis laxa, autosomal recessive, type IC 0.14175978302955627 +1459 612300 Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy 0.14174315333366394 +1460 105400 Amyotrophic lateral sclerosis 1 0.14172378182411194 +1461 228960 Flaujeac factor deficiency 0.14167921245098114 +1462 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 0.14153292775154114 +1463 619063 Mitochondrial complex IV deficiency, nuclear type 19 0.14142045378684998 +1464 617664 Combined oxidative phosphorylation deficiency 32 0.14127175509929657 +1465 620099 Cleidocranial dysplasia 2 0.14111430943012238 +1466 607634 Osteopetrosis, autosomal dominant 1 0.14109490811824799 +1467 129840 Edema, familial idiopathic, prepubertal 0.14103060960769653 +1468 615989 Bardet-Biedl syndrome 12 0.14102120697498322 +1469 615573 Nephrotic syndrome, type 9 0.14101642370224 +1470 312170 Pyruvate dehydrogenase e1-alpha deficiency 0.14101356267929077 +1471 210900 Bloom syndrome 0.14097222685813904 +1472 302060 Barth syndrome 0.1409255862236023 +1473 618856 Diabetes, permanent neonatal 2, with or without neurologic features 0.14092345535755157 +1474 178550 Pulmonary hemosiderosis 0.1408446729183197 +1475 248370 Mandibuloacral dysplasia 0.14076828956604004 +1476 620306 Neurodegeneration and seizures due to copper transport defect 0.1407555341720581 +1477 150170 Lactic acidosis, chronic adult form 0.14067484438419342 +1478 616604 Chromosome 14q32 duplication syndrome, 700-kb 0.14067043364048004 +1479 114065 Calcific aortic disease with immunologic abnormalities, familial 0.14066283404827118 +1480 614294 Chromosome 15q25 deletion syndrome 0.14060671627521515 +1481 620040 Dyskeratosis congenita, digenic 0.14047759771347046 +1482 614372 Mannose-Binding lectin deficiency 0.14042863249778748 +1483 233300 Ovarian dysgenesis 1 0.14042717218399048 +1484 618321 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 0.1403491497039795 +1485 173900 Polycystic kidneys 0.14033854007720947 +1486 618241 Mitochondrial complex I deficiency, nuclear type 19 0.14018811285495758 +1487 617610 Polycystic kidney disease 5 0.1401248723268509 +1488 613988 Dyskeratosis congenita, autosomal recessive, 3 0.14012132585048676 +1489 617839 Amyotrophic lateral sclerosis 23 0.13990287482738495 +1490 600740 Hypocalciuric hypercalcemia, familial, type III 0.13988254964351654 +1491 616507 Osteogenesis imperfecta, type XVII 0.1398809403181076 +1492 614736 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency 0.13974690437316895 +1493 126840 DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION 0.1397136151790619 +1494 614856 Osteogenesis imperfecta, type XIII 0.13967089354991913 +1495 602398 Desmosterolosis 0.13962113857269287 +1496 619737 Combined oxidative phosphorylation deficiency 54 0.1395941972732544 +1497 615266 Hypogonadotropic hypogonadism 17 with or without anosmia 0.1395123153924942 +1498 269860 Short-rib thoracic dysplasia 12 0.13942983746528625 +1499 277175 Vascular hyalinosis 0.13937251269817352 +1500 615604 L-ferritin deficiency, dominant and recessive 0.13936124742031097 +1501 617050 Hermansky-Pudlak syndrome 10 0.13934893906116486 +1502 184850 Stiff-Person syndrome 0.13926483690738678 +1503 617971 Methemoglobinemia, Beta type 0.13922731578350067 +1504 615503 Short rib-polydactyly syndrome, type VI 0.1392102837562561 +1505 614204 Psoriasis 14, pustular 0.1392049640417099 +1506 613679 Congenital prothrombin deficiency 0.1391943246126175 +1507 247800 Lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmunehemolytic anemia, and glomerulonephritis 0.13917477428913116 +1508 156400 Metaphyseal chondrodysplasia, Jansen type 0.13916653394699097 +1509 602531 Grange syndrome 0.13905446231365204 +1510 136300 Flynn-Aird syndrome 0.13902072608470917 +1511 608540 Congenital disorder of glycosylation, type Ik 0.13891130685806274 +1512 100070 Aortic aneurysm, abdominal 0.13889388740062714 +1513 259690 Osteopenia and sparse hair 0.13869205117225647 +1514 609054 Fanconi anemia, complementation group J 0.13862057030200958 +1515 619462 Hemolytic disease of fetus and newborn, RH-induced 0.13851575553417206 +1516 133540 Cockayne syndrome, type B 0.13847360014915466 +1517 619575 Developmental delay with or without intellectual impairment or behavioral abnormalities 0.1384402960538864 +1518 612233 Leukodystrophy, hypomyelinating, 4 0.1383684128522873 +1519 616809 Hyperphosphatasia with mental retardation syndrome 6 0.1383296102285385 +1520 300321 Fg syndrome 2 0.13831961154937744 +1521 193090 Transcobalamin I deficiency 0.13826124370098114 +1522 615888 Bleeding disorder, platelet-type, 18 0.13819393515586853 +1523 614871 Peroxisome biogenesis disorder 6B 0.13818874955177307 +1524 615506 Telangiectasia, hereditary hemorrhagic, type 5 0.13813655078411102 +1525 618097 Microcephaly, growth restriction, and increased sister chromatid exchange 2 0.13810615241527557 +1526 615244 Nephrotic syndrome, type 8 0.13805752992630005 +1527 301033 Hypothyroidism, congenital, nongoitrous, 8 0.1379900723695755 +1528 618251 Mitochondrial complex I deficiency, nuclear type 31 0.1378890722990036 +1529 612718 Cerebral creatine deficiency syndrome 3 0.13785883784294128 +1530 617183 Harel-Yoon syndrome 0.13784269988536835 +1531 235900 Histiocytosis, familial lipochrome 0.13781997561454773 +1532 604765 Cardiomyopathy, dilated, 1I 0.1377650648355484 +1533 616222 Temple syndrome 0.13776342570781708 +1534 618752 Neutropenia, severe congenital, 8, autosomal dominant 0.13764649629592896 +1535 613112 Macrothrombocytopenia, autosomal dominant, tubb1-related 0.1375967115163803 +1536 112240 Cole-Carpenter syndrome 1 0.13732853531837463 +1537 602248 Malignant atrophic papulosis 0.13731649518013 +1538 617302 Optic atrophy 11 0.13730169832706451 +1539 176090 Porphyria cutanea tarda, type I 0.1372193545103073 +1540 619196 Deafness, congenital, and adult-onset progressive leukoencephalopathy 0.1371137648820877 +1541 618336 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 0.1370788961648941 +1542 255310 Myopathy, congenital, with fiber-type disproportion 0.13707277178764343 +1543 208000 Arterial calcification, generalized, of infancy, 1 0.13696199655532837 +1544 614867 Peroxisome biogenesis disorder 5B 0.13690026104450226 +1545 252930 Mucopolysaccharidosis type IIIC 0.13685736060142517 +1546 254780 Myoclonic epilepsy of Lafora 0.13683190941810608 +1547 606721 Lipodystrophy, familial partial, type 7 0.1368034929037094 +1548 271930 Striatonigral degeneration, infantile 0.13679569959640503 +1549 616733 Coenzyme Q10 deficiency, primary, 8 0.1367589384317398 +1550 620246 Congenital myopathy 18 due to dihydropyridine receptor defect 0.13674817979335785 +1551 620133 Dyskeratosis congenita, autosomal recessive 8 0.13671350479125977 +1552 620076 Bent bone dysplasia syndrome 2 0.13635437190532684 +1553 616516 Emery-Dreifuss muscular dystrophy 3, autosomal recessive 0.13629715144634247 +1554 609180 Congenital disorder of glycosylation, type IF 0.13615772128105164 +1555 618815 Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster 0.13607437908649445 +1556 613804 Meier-Gorlin syndrome 4 0.13605642318725586 +1557 607676 Immunodeficiency 67 0.13603703677654266 +1558 615816 Immunodeficiency 23 0.13601230084896088 +1559 265880 PYKNOACHONDROGENESIS 0.13590963184833527 +1560 300752 Protoporphyria, erythropoietic, X-linked 0.13586010038852692 +1561 612940 Cutis laxa, autosomal recessive, type IIB 0.1357937455177307 +1562 105500 Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 0.13575048744678497 +1563 109720 Biliary cirrhosis, primary 0.13568565249443054 +1564 166200 Osteogenesis imperfecta, type I 0.13567882776260376 +1565 258470 Ophthalmoplegic neuromuscular disorder with abnormal mitochondria 0.1356097161769867 +1566 616868 Diarrhea 8, secretory sodium, congenital 0.13553306460380554 +1567 601086 Laterality defects, autosomal dominant 0.13535499572753906 +1568 191150 Tuftsin deficiency 0.13529188930988312 +1569 226670 Epidermolysis bullosa simplex with muscular dystrophy 0.135265052318573 +1570 216100 Cleft lip/palate with abnormal thumbs and microcephaly 0.13519561290740967 +1571 607143 Congenital disorder of glycosylation, type Ig 0.1350184977054596 +1572 259100 Hypertrophic osteoarthropathy, primary, autosomal recessive 1 0.1349458247423172 +1573 614105 Methylmalonate semialdehyde dehydrogenase deficiency 0.1348775178194046 +1574 263000 Interstitial pneumonitis, desquamative, familial 0.13487370312213898 +1575 261100 Megaloblastic anemia 1 0.1348697692155838 +1576 619424 Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy 0.13482597470283508 +1577 617885 Body mass index quantitative trait locus 19 0.1347937285900116 +1578 262850 Plasmin inhibitor deficiency 0.13464495539665222 +1579 262400 Growth hormone deficiency, isolated, type IA 0.13461712002754211 +1580 617917 Neurodegeneration with brain iron accumulation 8 0.1345926821231842 +1581 620200 Congenital disorder of glycosylation, type IIy 0.13457517325878143 +1582 215045 Chondrodysplasia, Blomstrand type 0.13447700440883636 +1583 211800 Calcification of joints and arteries 0.13439308106899261 +1584 245349 Pyruvate dehydrogenase e3-binding protein deficiency 0.1343853622674942 +1585 619840 Macrothrombocytopenia, isolated, 2, autosomal dominant 0.13435226678848267 +1586 607151 Moyamoya disease 2, susceptibility to 0.13433857262134552 +1587 194050 Williams-Beuren syndrome 0.1341896802186966 +1588 619657 Congenital heart defects, multiple types, 8, with or without heterotaxy 0.13413478434085846 +1589 613954 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 0.13412344455718994 +1590 617973 Methemoglobinemia, Alpha type 0.1340707540512085 +1591 616430 Combined oxidative phosphorylation deficiency 25 0.1340278834104538 +1592 617974 Spondyloepimetaphyseal dysplasia, DI Rocco type 0.13399216532707214 +1593 605309 Macrocephaly/autism syndrome 0.13395807147026062 +1594 107320 Antiphospholipid syndrome, familial 0.13390052318572998 +1595 612387 Sarcoidosis, susceptibility to, 2 0.13386452198028564 +1596 619310 Leukodystrophy, hypomyelinating, 21 0.13383102416992188 +1597 248250 Hypomagnesemia 3, renal 0.133790522813797 +1598 617306 Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 0.1337178498506546 +1599 614501 Psychomotor retardation, epilepsy, and craniofacial dysmorphism 0.13366304337978363 +1600 166450 OSTEOMESOPYKNOSIS 0.1336056888103485 +1601 617184 Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant 0.13357965648174286 +1602 616437 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 0.13354508578777313 +1603 612076 Hypouricemia, renal, 2 0.13353803753852844 +1604 617767 Joubert syndrome 33 0.13353514671325684 +1605 620244 Lymphatic malformation 13 0.13343192636966705 +1606 208400 Aspartylglucosaminuria 0.1334209442138672 +1607 254090 Ullrich congenital muscular dystrophy 1 0.1333829164505005 +1608 608643 Aromatic L-amino acid decarboxylase deficiency 0.13319280743598938 +1609 618222 Mitochondrial complex I deficiency, nuclear type 2 0.1331625133752823 +1610 619374 Immunodeficiency 81 0.13305801153182983 +1611 162300 Multiple endocrine neoplasia, type IIB 0.13300944864749908 +1612 619847 Neurodegeneration, childhood-onset, with progressive microcephaly 0.13299185037612915 +1613 227600 Factor X deficiency 0.13297554850578308 +1614 614102 Immunoglobulin kappa light chain deficiency 0.13282087445259094 +1615 614231 Microcephaly, epilepsy, and diabetes syndrome 0.132796511054039 +1616 604484 Neuropathy, hereditary motor and sensory, Okinawa type 0.13272537291049957 +1617 615704 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 0.13272342085838318 +1618 618239 Mitochondrial complex I deficiency, nuclear type 17 0.13257890939712524 +1619 202200 Glucocorticoid deficiency 1 0.13253799080848694 +1620 264180 Pseudodiastrophic dysplasia 0.13246910274028778 +1621 240300 Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 0.13239315152168274 +1622 611637 Primary lateral sclerosis, adult 0.13234920799732208 +1623 614592 Bent bone dysplasia syndrome 0.13223208487033844 +1624 613610 Cranioectodermal dysplasia 2 0.13218075037002563 +1625 618674 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 0.13217486441135406 +1626 617162 Epileptic encephalopathy, early infantile, 46 0.1321650892496109 +1627 617729 Galloway-Mowat syndrome 3 0.1321312040090561 +1628 231950 Glutathioninuria 0.13212861120700836 +1629 617912 Congenital heart defects, multiple types, 5 0.13199764490127563 +1630 253250 Mulibrey nanism 0.13199369609355927 +1631 612952 Aicardi-Goutieres syndrome 5 0.13199330866336823 +1632 234000 Factor XII deficiency 0.13197816908359528 +1633 611174 Hamamy syndrome 0.1319340169429779 +1634 618437 Epileptic encephalopathy, early infantile, 75 0.13192161917686462 +1635 252600 Mucolipidosis III alpha/beta 0.13182766735553741 +1636 602080 Paget disease of bone 2, early-onset 0.13181352615356445 +1637 250500 Metaphyseal modeling abnormality, skin lesions, and spastic paraplegia 0.13179951906204224 +1638 612284 Meckel syndrome, type 6 0.13178761303424835 +1639 601992 Friedreich ataxia 2 0.13176684081554413 +1640 252011 Mitochondrial complex II deficiency 0.13175196945667267 +1641 618913 Fanconi renotubular syndrome 5 0.13172022998332977 +1642 614616 Diarrhea 6 0.1316373348236084 +1643 617698 3-methylglutaconic aciduria, type IX 0.13161379098892212 +1644 615159 Mitochondrial complex III deficiency, nuclear type 4 0.13157272338867188 +1645 612336 Thrombophilia, hereditary, due to protein S deficiency, autosomal 0.13152265548706055 +1646 158250 NONDISJUNCTION 0.13148415088653564 +1647 613960 Chronic granulomatous disease 3, autosomal recessive 0.13136108219623566 +1648 182250 Singleton-Merten syndrome 1 0.1313578188419342 +1649 620294 Congenital heart defects, multiple types, 9 0.13135185837745667 +1650 612291 Joubert syndrome 8 0.13131937384605408 +1651 619407 WHIM syndrome 2 0.1313193440437317 +1652 605822 Spondyloocular syndrome 0.13127528131008148 +1653 616603 Cutis laxa, autosomal dominant 3 0.13126462697982788 +1654 601419 Myopathy, myofibrillar, 1 0.1312423050403595 +1655 616489 Silver-Russell syndrome 3 0.13122697174549103 +1656 619971 Neurodevelopmental disorder with epilepsy and brain atrophy 0.13122199475765228 +1657 610489 Pigmented nodular adrenocortical disease, primary, 1 0.13121864199638367 +1658 615368 Lethal congenital contracture syndrome 5 0.13099932670593262 +1659 601389 Cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction 0.13096670806407928 +1660 616559 Noonan syndrome 9 0.13088583946228027 +1661 114000 Caffey disease 0.13079963624477386 +1662 605676 Cardiomyopathy, dilated, with woolly hair and keratoderma 0.13053464889526367 +1663 618400 Charcot-Marie-Tooth disease, axonal, type 2EE 0.1304512619972229 +1664 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 0.1304393857717514 +1665 619170 Mitochondrial complex I deficiency, nuclear type 36 0.13039949536323547 +1666 615474 Primary aldosteronism, seizures, and neurologic abnormalities 0.1303694099187851 +1667 301056 Multiple congenital anomalies-neurodevelopmental syndrome, X-linked 0.1302575320005417 +1668 114100 Basal ganglia calcification, idiopathic, childhood-onset 0.1302085667848587 +1669 125700 Diabetes insipidus, Neurohypophyseal type 0.13013285398483276 +1670 613370 Maturity-onset diabetes of the young, type 10 0.13008341193199158 +1671 162800 Cyclic neutropenia 0.1300617903470993 +1672 177850 Pseudoxanthoma elasticum, forme fruste 0.13006141781806946 +1673 614262 Arthrogryposis, perthes disease, and upward gaze palsy 0.1299992948770523 +1674 613625 Factor V and factor VIII, combined deficiency of 0.12997736036777496 +1675 606685 Cardiomyopathy, dilated, 1L 0.1299697309732437 +1676 272200 Multiple sulfatase deficiency 0.12991422414779663 +1677 610618 Angioedema, hereditary, 3 0.12985578179359436 +1678 618397 Combined oxidative phosphorylation deficiency 39 0.1298154890537262 +1679 209010 Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus,photomyoclonus, and degenerative neurologic disease 0.12979565560817719 +1680 605735 Bleeding disorder, platelet-type, 12 0.12977129220962524 +1681 245590 Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 0.12973028421401978 +1682 242840 Vici syndrome 0.12968678772449493 +1683 235800 HISTIDINEMIA 0.12964200973510742 +1684 309930 Muscular dystrophy, Cardiac type 0.12958897650241852 +1685 246650 Lipase deficiency, combined 0.12956687808036804 +1686 612540 Myopathy, congenital, compton-north 0.12955094873905182 +1687 607014 Hurler syndrome 0.12953487038612366 +1688 154800 Mastocytosis, cutaneous 0.12938828766345978 +1689 215140 Greenberg skeletal dysplasia 0.12935812771320343 +1690 155310 Visceral myopathy 1 0.12934653460979462 +1691 613819 Short-Rib thoracic dysplasia 4 with or without polydactyly 0.12934249639511108 +1692 619769 Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin 0.12929612398147583 +1693 619224 Mitochondrial complex II deficiency, nuclear type 4 0.1292891949415207 +1694 614486 Thrombophilia due to thrombomodulin defect 0.12925668060779572 +1695 619767 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 0.1292186975479126 +1696 615182 Combined D-2- and L-2-hydroxyglutaric aciduria 0.12920011579990387 +1697 616541 Short stature, microcephaly, and endocrine dysfunction 0.129129558801651 +1698 227850 Fanconi-Like syndrome 0.1291266679763794 +1699 614665 Meconium ileus 0.129078209400177 +1700 613224 Noonan syndrome 6 0.12903466820716858 +1701 614091 Short-Rib thoracic dysplasia 7 with or without polydactyly 0.12901046872138977 +1702 614980 Congenital heart defects, multiple types, 2 0.12898850440979004 +1703 600972 Achondrogenesis, type IB 0.12897737324237823 +1704 222690 Dibasic amino aciduria I 0.12897102534770966 +1705 601887 Malignant hyperthermia, susceptibility to, 5 0.12892749905586243 +1706 255100 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 0.1288563758134842 +1707 208230 Arthropathy, progressive pseudorheumatoid, of childhood 0.1288508176803589 +1708 271530 Brachyolmia type 1, Hobaek type 0.12865036725997925 +1709 616033 Microcephaly, short stature, and impaired glucose metabolism 1 0.12862621247768402 +1710 614307 Alpha-methylacyl-CoA racemase deficiency 0.12844885885715485 +1711 166220 Osteogenesis imperfecta, type IV 0.1283928006887436 +1712 215100 Rhizomelic chondrodysplasia punctata, type 1 0.12837494909763336 +1713 125853 Diabetes mellitus, noninsulin-dependent 0.12827983498573303 +1714 178500 Pulmonary fibrosis, idiopathic 0.1282372772693634 +1715 212080 Cardiac lipidosis, familial 0.1282261312007904 +1716 301080 Systemic lupus erythematosus 17 0.12816612422466278 +1717 615356 Muscular dystrophy, limb-girdle, autosomal recessive 18 0.1281486302614212 +1718 612119 Trehalase deficiency 0.12813924252986908 +1719 610247 Esophagitis, eosinophilic, 1 0.12810483574867249 +1720 613412 Esophagitis, eosinophilic, 2 0.12810483574867249 +1721 248500 Alpha-mannosidosis 0.1280989646911621 +1722 310095 Muscular dystrophy, progressive pectorodorsal 0.12804631888866425 +1723 191390 Inflammatory bowel disease 11 0.12798067927360535 +1724 616881 Leukodystrophy, hypomyelinating, 13 0.12787491083145142 +1725 245348 Pyruvate dehydrogenase E2 deficiency 0.1278506964445114 +1726 614076 Hermansky-Pudlak syndrome 7 0.12780769169330597 +1727 616564 Noonan syndrome 10 0.12779979407787323 +1728 142623 Hirschsprung disease, susceptibility to, 1 0.12777942419052124 +1729 600002 Eiken syndrome 0.12776096165180206 +1730 619747 Cardiomyopathy, dilated, 2F 0.1277467906475067 +1731 267500 Reticular dysgenesia 0.12770244479179382 +1732 612692 Agammaglobulinemia 6, autosomal recessive 0.1276891827583313 +1733 616081 Pontocerebellar hypoplasia, type 1C 0.12764279544353485 +1734 188055 Thrombophilia due to deficiency of activated protein C cofactor 0.12764060497283936 +1735 241550 Hypoplastic left heart syndrome 0.12758688628673553 +1736 240200 Hypoadrenocorticism, familial 0.1275736689567566 +1737 619273 Cimdag syndrome 0.1275101751089096 +1738 152900 Lymphedema and cerebral arteriovenous anomaly 0.12744052708148956 +1739 211180 Bowen-Conradi syndrome 0.12739074230194092 +1740 605376 Heterotaxy, visceral, 2, autosomal 0.12738221883773804 +1741 619290 Mahvash disease 0.12733671069145203 +1742 259450 Bruck syndrome 1 0.1273210644721985 +1743 201910 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 0.12728142738342285 +1744 610915 Osteogenesis imperfecta, type VIII 0.12728139758110046 +1745 615184 Cardiomyopathy, dilated, 1II 0.12726423144340515 +1746 611773 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 0.12722603976726532 +1747 256500 Netherton syndrome 0.12717178463935852 +1748 178400 Pulmonary edema of mountaineers 0.12704874575138092 +1749 604454 Welander distal myopathy 0.12687954306602478 +1750 619876 Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures 0.12684005498886108 +1751 166740 Osteosclerosis with ichthyosis and fractures 0.12680858373641968 +1752 213010 Cerebellar vermis aplasia with associated features suggesting smith-lemli-opitzsyndrome and meckel syndrome 0.12679524719715118 +1753 208920 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 0.12659451365470886 +1754 617874 Polycystic liver disease 3 with or without kidney cysts 0.12656916677951813 +1755 614748 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 0.1265086531639099 +1756 300946 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 0.12650348246097565 +1757 618426 Encephalopathy, acute, infection-induced, susceptibility to, 9 0.12646780908107758 +1758 615924 Encephalopathy, progressive, with or without lipodystrophy 0.1264210194349289 +1759 122860 Craniodiaphyseal dysplasia, autosomal dominant 0.1263226717710495 +1760 617132 Developmental and epileptic encephalopathy 44 0.1262139230966568 +1761 613800 Meier-Gorlin syndrome 2 0.12611061334609985 +1762 218700 Hypothyroidism, congenital, nongoitrous, 2 0.12608984112739563 +1763 613986 Pituitary hormone deficiency, combined, 6 0.12607596814632416 +1764 612932 Glycogen storage disease XIII 0.12607280910015106 +1765 120100 Familial cold inflammatory syndrome 1 0.1260444074869156 +1766 241510 Hypophosphatasia, childhood 0.12592864036560059 +1767 251260 Nijmegen breakage syndrome 0.12589356303215027 +1768 617938 Developmental and epileptic encephalopathy 62 0.1258687973022461 +1769 602522 Bartter syndrome, type 4A, neonatal, with sensorineural deafness 0.12577693164348602 +1770 619632 Immunodeficiency 89 and autoimmunity 0.12572051584720612 +1771 614055 Acetyl-Coa acetyltransferase-2 deficiency 0.12568937242031097 +1772 619343 Chromosome 1p36 deletion syndrome, proximal 0.12566082179546356 +1773 250850 Methionine adenosyltransferase I/III deficiency 0.12545913457870483 +1774 606764 Gastrointestinal stromal tumor 0.12543466687202454 +1775 618947 Arthrogryposis multiplex congenita 5 0.12536203861236572 +1776 131430 EOSINOPHILOPENIA 0.1253206878900528 +1777 262190 Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 0.12528640031814575 +1778 619879 Meckel syndrome 14 0.125222846865654 +1779 188050 Thrombophiliavenous thromboembolism, included 0.12520712614059448 +1780 616638 Smith-Kingsmore syndrome 0.1251828521490097 +1781 261640 Hyperphenylalaninemia, BH4-deficient, A 0.12516270577907562 +1782 619718 Hypogonadotropic hypogonadism 26 with or without anosmia 0.12511508166790009 +1783 609975 Hyperinsulinemic hypoglycemia, familial, 4 0.12511283159255981 +1784 614340 Mental retardation, autosomal recessive 27 0.12510953843593597 +1785 612731 Faciocardiomelic syndrome 0.12508071959018707 +1786 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 0.12505382299423218 +1787 300770 Surfactant metabolism dysfunction, pulmonary, 4 0.1250501573085785 +1788 618346 Microcephaly, growth deficiency, seizures, and brain malformations 0.1250239461660385 +1789 609241 Schindler disease, type I 0.12499727308750153 +1790 613805 Meier-Gorlin syndrome 5 0.12491719424724579 +1791 126320 Distichiasis with congenital anomalies of the heart and peripheral 0.12490043044090271 +1792 614882 Peroxisome biogenesis disorder 10A (Zellweger) 0.12487693130970001 +1793 614662 Cortisone reductase deficiency 2 0.12486167252063751 +1794 616801 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0.12486115097999573 +1795 301310 Anemia, sideroblastic, and spinocerebellar ataxia 0.12483016401529312 +1796 300048 Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked 0.12482447922229767 +1797 619026 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 0.12481473386287689 +1798 610021 Hyperinsulinemic hypoglycemia, familial, 7 0.12474152445793152 +1799 618910 Epileptic encephalopathy, early infantile, 86 0.12468834966421127 +1800 223900 Neuropathy, hereditary sensory and autonomic, type III 0.12465903908014297 +1801 614017 Ciliary dyskinesia, primary, 16 0.12465507537126541 +1802 615673 Myopathy with extrapyramidal signs 0.12464136630296707 +1803 309900 Mucopolysaccharidosis, type II 0.1245695948600769 +1804 308940 Leiomyomatosis, diffuse, with alport syndrome 0.12454130500555038 +1805 261600 Phenylketonuria 0.12447382509708405 +1806 301950 Branchial arch syndrome, X-linked 0.12443917244672775 +1807 619340 Developmental and epileptic encephalopathy 96 0.12441942095756531 +1808 137900 Globulin anomaly involving beta (2a)-globulin 0.1244111880660057 +1809 618280 Cardiac-Urogenital syndrome 0.12440593540668488 +1810 613435 Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia 0.12433910369873047 +1811 245550 Lambert syndrome 0.12429218739271164 +1812 610543 Chromosome 16p13.3 deletion syndrome 0.12428909540176392 +1813 176200 Porphyria variegata 0.12428255379199982 +1814 610163 Immunodeficiency 25 0.1242777481675148 +1815 613375 Maturity-onset diabetes of the young, type 11 0.12418969720602036 +1816 211750 C syndrome 0.12415329366922379 +1817 619985 Glycosylphosphatidylinositol biosynthesis defect 25 0.1241527572274208 +1818 619959 ACCES syndrome 0.12412571907043457 +1819 268315 Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction 0.12411737442016602 +1820 614808 Amyotrophic lateral sclerosis 18 0.12398189306259155 +1821 116870 Celiac artery stenosis from compression by median arcuate ligamentof diaphragm 0.12388400733470917 +1822 617393 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 0.12378809601068497 +1823 608751 Cardiomyopathy, familial hypertrophic, 8 0.12365046888589859 +1824 614813 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 0.12363696843385696 +1825 614732 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies 0.12359888106584549 +1826 304800 Diabetes insipidus, nephrogenic, X-linked 0.12359637767076492 +1827 613075 Macrocephaly, alopecia, cutis laxa, and scoliosis 0.12354501336812973 +1828 618404 Leukodystrophy, hypomyelinating, 18 0.12352793663740158 +1829 253000 Mucopolysaccharidosis IVA 0.12350134551525116 +1830 116860 Cerebral cavernous malformations 1 0.12339836359024048 +1831 602247 Xanthomatosis, susceptibility to 0.12337188422679901 +1832 618459 Immunodeficiency 62 0.12334095686674118 +1833 619855 Thyroid hormone metabolism, abnormal, 2 0.12332963943481445 +1834 617985 Microcephaly 23, primary, autosomal recessive 0.12332937866449356 +1835 620368 Cerebroretinal microangiopathy with calcifications and cysts 3 0.1232290267944336 +1836 314400 Cardiac valvular dysplasia, X-linked 0.12320569902658463 +1837 264800 Pseudoxanthoma elasticum 0.1231745257973671 +1838 612463 Pseudopseudohypoparathyroidism 0.12311962991952896 +1839 608805 Avascular necrosis of femoral head, primary, 1 0.1230747252702713 +1840 616749 Heterotaxy, visceral, 7, autosomal 0.12305200099945068 +1841 617877 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 0.12294930964708328 +1842 305700 Sertoli cell-only syndrome 0.12294747680425644 +1843 619319 Lymphatic malformation 9 0.12293775379657745 +1844 262875 Platelet prostacyclin receptor defect 0.12291613221168518 +1845 274300 Thyroid hormone resistance, generalized, autosomal recessive 0.1228991448879242 +1846 112250 Diaphyseal medullary stenosis with malignant fibrous histiocytoma 0.12281253188848495 +1847 615970 Alpha-Fetoprotein, hereditary persistence of 0.12279278039932251 +1848 615969 Alpha-Fetoprotein deficiency 0.12279278039932251 +1849 601110 Congenital disorder of glycosylation, type Id 0.12274330109357834 +1850 230650 GM1-gangliosidosis, type III 0.12273340672254562 +1851 217095 Conotruncal heart malformations 0.1227300688624382 +1852 142330 Hepatic adenomas, familial 0.12272129952907562 +1853 614947 Combined oxidative phosphorylation deficiency 15 0.1227104440331459 +1854 614407 Microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome 0.12270701676607132 +1855 176860 Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant 0.12265946716070175 +1856 607641 Neuronopathy, distal hereditary motor, type VIIB 0.1225997805595398 +1857 619269 Ondontochondrodysplasia 2 with hearing loss and diabetes 0.1225210651755333 +1858 614893 Immunodeficiency 32A 0.1225050687789917 +1859 618662 Diarrhea 11, malabsorptive, congenital 0.12247193604707718 +1860 252160 Molybdenum cofactor deficiency, complementation group B 0.12227579951286316 +1861 131440 Myeloproliferative disorder, chronic, with eosinophilia 0.12223374098539352 +1862 156830 Micromelic bone dysplasia with cloverleaf skull 0.12220259755849838 +1863 615424 Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 0.12216923385858536 +1864 603233 Pseudohypoparathyroidism, type IB 0.12216400355100632 +1865 618496 Aortic valve disease 3 0.12212640047073364 +1866 269650 Secretory component deficiency 0.12212610989809036 +1867 611788 Aortic aneurysm, familial thoracic 6 0.12208712100982666 +1868 135100 Fibrodysplasia ossificans progressiva 0.12207422405481339 +1869 617875 Polycystic liver disease 4 with or without kidney cysts 0.12205768376588821 +1870 153300 Yellow nail syndrome 0.122055284678936 +1871 612780 Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 0.12203878164291382 +1872 243110 INTERLEUKIN 1, DEFECTIVE T-CELL RESPONSE TO 0.12192483991384506 +1873 617772 Deafness, autosomal dominant 34, with or without inflammation 0.12187010794878006 +1874 600969 Epiphyseal dysplasia, multiple, 3, with or without myopathy 0.12185417860746384 +1875 617082 Congenital disorder of glycosylation, type IAA 0.1217636838555336 +1876 192310 Vasculitis, lymphocytic, nodular 0.12172071635723114 +1877 602152 Rhyns syndrome 0.12167609483003616 +1878 617290 Epilepsy, early-onset, vitamin b6-dependent 0.12161709368228912 +1879 619321 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies 0.12160788476467133 +1880 619218 ENDOVE syndrome, limb-brain type 0.12156547605991364 +1881 615066 Osteogenesis imperfecta, type XIV 0.12153977900743484 +1882 193520 Watson syndrome 0.12152036279439926 +1883 620161 Congenital myopathy 15 0.1213952824473381 +1884 618944 Hyper-IgE recurrent infection syndrome 5, autosomal recessive 0.12138725817203522 +1885 612198 Diastasis recti and weakness of the linea alba 0.12137525528669357 +1886 166705 Osteopoikilosis and dacryocystitis 0.121194988489151 +1887 280000 CHIME syndrome 0.12118584662675858 +1888 103580 Pseudohypoparathyroidism, type IA 0.12117897719144821 +1889 617055 PERCHING syndrome 0.12114516645669937 +1890 616113 Polyendocrine-polyneuropathy syndrome 0.12112081050872803 +1891 243700 Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections 0.12105970084667206 +1892 619301 Pontocerebellar hypoplasia, type 14 0.12102174013853073 +1893 615925 Growth hormone deficiency, isolated partial 0.12097819894552231 +1894 618347 Galloway-Mowat syndrome 6 0.12092815339565277 +1895 610967 Osteogenesis imperfecta, type V 0.12088123708963394 +1896 601346 Martinez-Frias syndrome 0.12084387242794037 +1897 618324 Congenital disorder of glycosylation with defective fucosylation 2 0.12076035887002945 +1898 617984 Microcephaly 22, primary, autosomal recessive 0.12071368843317032 +1899 611497 Osteopetrosis, autosomal recessive 6 0.1206928938627243 +1900 620240 Developmental delay with hypotonia, myopathy, and brain abnormalities 0.12064604461193085 +1901 309620 Mental retardation, skeletal dysplasia, and abducens palsy 0.12061373144388199 +1902 228400 Fever, familial lifelong persistent 0.12057282775640488 +1903 618598 Spastic tetraplegia and axial hypotonia, progressive 0.12054822593927383 +1904 117000 Central core disease 0.12049149721860886 +1905 277600 Weill-Marchesani syndrome 1 0.12048608064651489 +1906 250900 Methionine malabsorption syndrome 0.12041516602039337 +1907 613849 Osteogenesis imperfecta, type XII 0.12041475623846054 +1908 192315 Vasculopathy, retinal, with cerebral leukodystrophy 0.12040901184082031 +1909 239850 Hypertrichotic osteochondrodysplasia 0.1203807070851326 +1910 615102 Tyshchenko syndrome 0.12034903466701508 +1911 614009 Bleeding disorder, platelet-type, 13, susceptibility to 0.12030673027038574 +1912 616873 Immunodeficiency, common variable, 13 0.12027517706155777 +1913 614458 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) 0.12013282626867294 +1914 218050 Cramps, familial adolescent 0.11998693645000458 +1915 116920 Leukocyte adhesion deficiency, type I 0.11993388831615448 +1916 620443 Disabling pansclerotic morphea of childhood 0.11987614631652832 +1917 300755 Agammaglobulinemia, X-linked 0.11982028186321259 +1918 187550 Thalassemia, beta+, silent allele 0.11980698257684708 +1919 620157 Intellectual developmental disorder, autosomal dominant 70 0.11979761719703674 +1920 612462 Pseudohypoparathyroidism, type IC 0.11977668851613998 +1921 615851 Pontocerebellar hypoplasia, type 2E 0.11977215856313705 +1922 109730 Aortic valve disease 1 0.11960984021425247 +1923 600884 Cardiomyopathy, dilated, 1B 0.1195988655090332 +1924 619967 Myopathy, congenital, nonprogressive 0.11958429217338562 +1925 618379 Developmental and epileptic encephalopathy 73 0.11957758665084839 +1926 619897 Cardiomyopathy, dilated, 2G 0.11957599967718124 +1927 617672 Neurodegeneration, childhood-onset, with brain atrophy 0.11956635117530823 +1928 302045 Cardiomyopathy, dilated, 3B 0.11952002346515656 +1929 226700 Epidermolysis bullosa, junctional, Herlitz type 0.11950895935297012 +1930 609500 Myopathy, autophagic vacuolar, infantile-onset 0.11949340254068375 +1931 616651 Roifman syndrome 0.11947084963321686 +1932 617432 Intellectual developmental disorder, autosomal recessive 60 0.1194528192281723 +1933 307500 Hypogonadism, male, with mental retardation and skeletal anomalies 0.11943235993385315 +1934 143095 Spondyloepiphyseal dysplasia with congenital joint dislocations 0.11941627413034439 +1935 232600 Glycogen storage disease V 0.11939386278390884 +1936 135580 Fibromuscular dysplasia of arteries 0.11938066780567169 +1937 215720 Citrulline transport defect 0.11930874735116959 +1938 618499 Noonan syndrome 11 0.11927952617406845 +1939 269921 Sialuria 0.1192643791437149 +1940 615779 Congenital heart defects, multiple types, 4 0.11926044523715973 +1941 618580 Epileptic encephalopathy, early infantile, 80 0.11923863738775253 +1942 617088 Short-rib thoracic dysplasia 15 with polydactyly 0.11923446506261826 +1943 147750 IVIC syndrome 0.1191701591014862 +1944 105150 Amyloidosis VI 0.11912776529788971 +1945 618265 Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 0.11910243332386017 +1946 616260 Tenorio syndrome 0.11901160329580307 +1947 601004 Portal vein, cavernous transformation of 0.11892823129892349 +1948 609152 Hyperthyroidism, nonautoimmune 0.11891980469226837 +1949 262650 Pituitary dwarfism IV 0.1188911572098732 +1950 183840 Spondyloarthropathy, susceptibility to, 2 0.11885859072208405 +1951 609053 Fanconi anemia, complementation group I 0.11883027106523514 +1952 106190 Anhidrosis, isolated, with normal sweat glands 0.11882810294628143 +1953 171420 Pheochromocytoma-Islet cell tumor syndrome 0.11879664659500122 +1954 247640 Lymphoblastic leukemia, acute, with lymphomatous features 0.11869864910840988 +1955 115150 Cardiofaciocutaneous syndrome 1 0.11867572367191315 +1956 614103 Lipedema 0.11860763281583786 +1957 619057 Combined oxidative phosphorylation deficiency 51 0.11858690530061722 +1958 616682 Seizures, scoliosis, and macrocephaly/microcephaly syndrome 0.11855880916118622 +1959 212790 Premature centromere division 0.11853489279747009 +1960 102500 Hajdu-Cheney syndrome 0.11845891922712326 +1961 620024 Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities 0.11840212345123291 +1962 616185 Ovarian dysgenesis 4 0.11835679411888123 +1963 231070 Geroderma osteodysplasticum 0.11815834045410156 +1964 208050 Arterial tortuosity syndrome 0.11810386925935745 +1965 272120 Sudden infant death syndrome 0.11808715015649796 +1966 615349 Ehlers-Danlos syndrome, spondylodysplastic type, 2 0.11806989461183548 +1967 619695 Rauch-Steindl syndrome 0.11803558468818665 +1968 619774 Immunodeficiency 96 0.11798390746116638 +1969 200900 Achondroplasia, so-called, and severe combined immunodeficiency 0.11793957650661469 +1970 236000 Lymphoma, hodgkin 0.11790641397237778 +1971 265850 PYGMY 0.11788107454776764 +1972 147060 Hyper-IgE recurrent infection syndrome 0.11780855804681778 +1973 618362 Coffin-Siris syndrome 8 0.1177552118897438 +1974 601186 Microphthalmia, syndromic 9 0.1177135556936264 +1975 609757 Williams-Beuren region duplication syndrome 0.11762335151433945 +1976 219095 Cutaneous photosensitivity and colitis, lethal 0.11761976033449173 +1977 614618 Hyperekplexia 3 0.11757458746433258 +1978 616949 Spinocerebellar ataxia, autosomal recessive 23 0.11749649047851562 +1979 618061 Polycystic kidney disease 6 with or without polycystic liver disease 0.11748218536376953 +1980 216340 Yunis-Varon syndrome 0.11744926869869232 +1981 612097 Deafness, unilateral, with delayed endolymphatic hydrops 0.11739892512559891 +1982 619758 Tessadori-van Haaften neurodevelopmental syndrome 1 0.11738099157810211 +1983 609056 Salt and pepper developmental regression syndrome 0.11722663789987564 +1984 276200 T-SUBSTANCE ANOMALY 0.11720302700996399 +1985 301050 Alport syndrome, X-linked 0.11714094877243042 +1986 617595 Birk-Landau-Perez syndrome 0.11712039262056351 +1987 143850 Orthostatic hypotensive disorder, Streeten type 0.11711008101701736 +1988 252250 Monocyte chemotactic disorder 0.1171082928776741 +1989 259770 Osteoporosis-pseudoglioma syndrome 0.11706490814685822 +1990 616730 Nephrotic syndrome, type 11 0.11704317480325699 +1991 607734 Charcot-Marie-Tooth disease, demyelinating, type 1F 0.11700548976659775 +1992 200150 CHOREOACANTHOCYTOSIS 0.11699354648590088 +1993 617635 Mental retardation, autosomal dominant 47 0.11698616296052933 +1994 620066 Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment 0.11695074290037155 +1995 134400 Factor V excess with spontaneous thrombosis 0.11691810190677643 +1996 301066 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies 0.1168837621808052 +1997 212112 Malouf syndrome 0.11675392836332321 +1998 115470 Cat eye syndrome 0.11654884368181229 +1999 619155 Nephrotic syndrome, type 22 0.11653130501508713 +2000 252650 Mucolipidosis IV 0.11652734130620956 +2001 608097 Periventricular heterotopia with microcephaly, autosomal recessive 0.11648271232843399 +2002 233450 Goodpasture syndrome 0.11643807590007782 +2003 617983 Microcephaly 21, primary, autosomal recessive 0.11642548441886902 +2004 144750 Hyperostosis, endosteal 0.11641020327806473 +2005 272000 Sucrosuria, hiatus hernia and mental retardation 0.11626354604959488 +2006 609425 Chromosome 3q29 deletion syndrome 0.11626094579696655 +2007 617788 Intellectual developmental disorder, autosomal dominant 51 0.1162240281701088 +2008 171300 PHEOCHROMOCYTOMA 0.11621315777301788 +2009 242500 Ichthyosis, congenital, autosomal recessive 4B 0.11612020432949066 +2010 158400 Muscle cramps, familial 0.11611652374267578 +2011 613330 Spondylo-megaepiphyseal-metaphyseal dysplasia 0.11608516424894333 +2012 619482 Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction 0.11607295274734497 +2013 300853 Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 0.11607151478528976 +2014 616418 Hypomagnesemia, seizures, and mental retardation 0.11606500297784805 +2015 616342 Lissencephaly 7 with cerebellar hypoplasia 0.11606356501579285 +2016 610168 Loeys-Dietz syndrome 2 0.1160457581281662 +2017 160570 Myopathy with storage of glycoproteins and glycosaminoglycans 0.11602585762739182 +2018 617575 Nephrotic syndrome, type 14 0.11601681262254715 +2019 617667 Fraser syndrome 3 0.11593916267156601 +2020 190320 Trichodentoosseous syndrome 0.11593034118413925 +2021 616115 Familial cold autoinflammatory syndrome 4 0.11591164022684097 +2022 614838 Hypogonadotropic hypogonadism 9 with or without anosmia 0.11575259268283844 +2023 601154 Cardiomyopathy, dilated, 1E 0.11572147160768509 +2024 616311 Intellectual developmental disorder, autosomal dominant 33 0.11567551642656326 +2025 600118 Warburg micro syndrome 1 0.11564331501722336 +2026 616192 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 0.11559397727251053 +2027 619864 Leukodystrophy, childhood-onset, remitting 0.11544482409954071 +2028 619131 Osteogenesis imperfecta 21 0.11541958153247833 +2029 121400 Cornea plana 1 0.11541902273893356 +2030 200170 Acanthosis nigricans with muscle cramps and acral enlargement 0.11541684716939926 +2031 153200 Lymphedema, hereditary, II 0.11538480967283249 +2032 179200 Radial heads, posterior dislocation of 0.11538010090589523 +2033 225320 Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form 0.11530973762273788 +2034 263570 Polyglucosan body neuropathy, adult form 0.11525966227054596 +2035 259680 Chronic recurrent multifocal osteomyelitis 0.11525478214025497 +2036 300554 Hypophosphatemic rickets, X-linked recessive 0.11525320261716843 +2037 614524 Fibrochondrogenesis 2 0.11522359400987625 +2038 617765 Immunodeficiency, common variable, 14 0.11518765985965729 +2039 619464 Sick sinus syndrome 4 0.11514809727668762 +2040 616977 Intellectual developmental disorder, autosomal dominant 43 0.11511225253343582 +2041 605850 Dimethylglycine dehydrogenase deficiency 0.1150614470243454 +2042 619884 Osteoporosis, childhood- or juvenile-onset, with developmental delay 0.11498188972473145 +2043 230750 Gastroschisisabdominal wall defects, included 0.11496739089488983 +2044 609560 Mitochondrial DNA depletion syndrome 2 (myopathic type) 0.11492937803268433 +2045 103200 Adiposis dolorosa 0.1149158850312233 +2046 607364 Bartter syndrome, type 3 0.11489196866750717 +2047 602099 Amyotrophic lateral sclerosis 5, juvenile 0.11484257131814957 +2048 618164 Cardiac, facial, and digital anomalies with developmental delay 0.11484143137931824 +2049 600706 Proximal myopathy with focal depletion of mitochondria 0.11483824998140335 +2050 614205 3-M syndrome 3 0.11482509225606918 +2051 618201 Epileptic encephalopathy, early infantile, 68 0.11480575799942017 +2052 240900 Hypoinsulinemic hypoglycemia with hemihypertrophy 0.11480241268873215 +2053 615637 Intellectual developmental disorder, autosomal recessive 41 0.11478869616985321 +2054 613426 Cardiomyopathy, dilated, 1S 0.11475984007120132 +2055 150800 Hereditary leiomyomatosis and renal cell cancer 0.11475284397602081 +2056 270100 Heterotaxy, visceral, 5 0.11470172554254532 +2057 610832 Fanconi anemia, complementation group N 0.11468072980642319 +2058 142630 Histiocytosis, progressive mucinous 0.1146477460861206 +2059 217085 Congenital heart defects, hamartomas of tongue, and polysyndactyly 0.11461436748504639 +2060 614559 Infantile cerebellar-retinal degeneration 0.11460491269826889 +2061 613107 Neutropenia, severe congenital, 2, autosomal dominant 0.11458750069141388 +2062 618603 Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0.1145409643650055 +2063 614557 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 0.11453757435083389 +2064 617600 Intellectual developmental disorder, autosomal dominant 45 0.11452395468950272 +2065 604559 Progressive familial heart block, type IB 0.11452019959688187 +2066 606843 Immunodeficiency with hyper-igm, type 3 0.11451965570449829 +2067 130050 Ehlers-Danlos syndrome, Vascular type 0.11450599133968353 +2068 616214 Hyperproinsulinemia 0.11443894356489182 +2069 203760 Alpha-2-deficient collagen disease 0.11443427950143814 +2070 180860 Silver-Russell syndrome 1 0.11440657824277878 +2071 618948 Heterotaxy, visceral, 9, autosomal, with male infertility 0.11439435929059982 +2072 236450 Hutterite cerebroosteonephrodysplasia syndrome 0.11435852944850922 +2073 209880 Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 0.11433102190494537 +2074 620083 Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects 0.11429253220558167 +2075 191900 Muckle-Wells syndrome 0.11414153128862381 +2076 614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 0.11413391679525375 +2077 619461 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive 0.11404664814472198 +2078 224300 DYSOSTEOSCLEROSIS 0.11400692909955978 +2079 615300 Perrault syndrome 4 0.1139812245965004 +2080 605253 Neuropathy, congenital hypomyelinating, 1, autosomal recessive 0.11383984237909317 +2081 613485 Long QT syndrome 13 0.11381137371063232 +2082 247610 Lymphoid interstitial pneumonia 0.11379887163639069 +2083 613795 Loeys-Dietz syndrome 3 0.11379863321781158 +2084 619079 Inflammatory bowel disease (Crohn disease) 30 0.11378651112318039 +2085 609286 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 0.1137627512216568 +2086 618000 Ehlers-Danlos syndrome, classic-like, 2 0.11376184225082397 +2087 612260 Immunodeficiency 68 0.11372817307710648 +2088 614674 Periodic fever, menstrual cycle-dependent 0.11370139569044113 +2089 610476 Arrhythmogenic right ventricular dysplasia, familial, 11 0.11363529413938522 +2090 266600 Inflammatory bowel disease 1, Crohn disease 0.11354077607393265 +2091 608093 Congenital disorder of glycosylation, type Ij 0.1135106235742569 +2092 204000 Leber congenital amaurosis, type I 0.11349242180585861 +2093 616494 Leukodystrophy, hypomyelinating, 11 0.11342024803161621 +2094 265900 Pyle disease 0.11326267570257187 +2095 601494 Cardiomyopathy, dilated, 1D 0.11323656886816025 +2096 249310 Megalocornea-Mental retardation syndrome 0.11319605261087418 +2097 134610 Familial Mediterranean fever, AD 0.11319383978843689 +2098 616917 Mental retardation, autosomal recessive 53 0.11318492889404297 +2099 193250 Volvulus of midgut 0.11316251009702682 +2100 620265 Congenital myopathy 2B, severe infantile, autosomal recessive 0.11315599828958511 +2101 607944 Spondyloenchondrodysplasia with immune dysregulation 0.11312190443277359 +2102 615785 White sponge nevus 2 0.11305176466703415 +2103 106070 Angioma, hereditary neurocutaneousspinal arterial venous malformations with cutaneous hemangiomas, included 0.11303097754716873 +2104 607855 Muscular dystrophy, congenital, merosin deficient or partially deficient 0.1130247488617897 +2105 613661 Congenital disorder of glycosylation, type Ip 0.11301308870315552 +2106 611875 Brugada syndrome 3 0.11291837692260742 +2107 205200 Amyotrophic lateral sclerosis, juvenile, with dementia 0.11290066689252853 +2108 613834 Multisystemic smooth muscle dysfunction syndrome 0.11289026588201523 +2109 617065 Epileptic encephalopathy, early infantile, 40 0.11283448338508606 +2110 605543 Parkinson disease 4 0.11282552778720856 +2111 616737 Takenouchi-Kosaki syndrome 0.1127980500459671 +2112 618098 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 0.1127728745341301 +2113 620145 Developmental and epileptic encephalopathy 109 0.11276762932538986 +2114 609620 Short QT syndrome 1 0.11272624135017395 +2115 261500 Eosinophil peroxidase deficiency 0.11270473152399063 +2116 608328 Weill-Marchesani syndrome 2, dominant 0.11266842484474182 +2117 614376 Short-Rib thoracic dysplasia 5 with or without polydactyly 0.11264368146657944 +2118 619503 Neurodevelopmental disorder with hypotonia and dysmorphic facies 0.11263253539800644 +2119 617952 Osteogenesis imperfecta, type XVIII 0.11262791603803635 +2120 132500 Epistaxis, hereditary 0.11261961609125137 +2121 614298 Neurodegeneration with brain iron accumulation 4 0.1125902384519577 +2122 613239 Thyrotoxic periodic paralysis, susceptibility to, 2 0.11258147656917572 +2123 608088 Neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux 0.1125544086098671 +2124 600195 Venous malformations, multiple cutaneous and mucosal 0.11254306882619858 +2125 619881 Developmental and epileptic encephalopathy 102 0.11244694143533707 +2126 158810 Bethlem myopathy 1 0.11242320388555527 +2127 225400 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 0.11227857321500778 +2128 243080 Inosine phosphorylase deficiency, immune defect due to 0.11224079877138138 +2129 233100 Renal glucosuria 0.11223165690898895 +2130 200610 Achondrogenesis, type II 0.11223150044679642 +2131 619182 Gastric adenocarcinoma and proximal polyposis of the stomach 0.11222619563341141 +2132 600858 Cardiomyopathy, familial hypertrophic, 6 0.1122175008058548 +2133 229300 Friedreich ataxia 1 0.11221136897802353 +2134 248800 Marinesco-Sjogren syndrome 0.11220324784517288 +2135 161800 Nemaline myopathy 3 0.11219076067209244 +2136 226100 Endocardial fibroelastosis and coarctation of abdominal aorta 0.11218726634979248 +2137 253220 Mucopolysaccharidosis VII 0.1121741458773613 +2138 619259 Neurodegeneration with ataxia and late-onset optic atrophy 0.1121661588549614 +2139 609621 Short QT syndrome 2 0.1121583953499794 +2140 620155 Rabin-Pappas syndrome 0.11214536428451538 +2141 604387 Nephronophthisis 3 0.11210057139396667 +2142 616117 Cardiac conduction disease with or without dilated cardiomyopathy 0.11208365112543106 +2143 614377 Nephronophthisis 13 0.11204300820827484 +2144 617321 Yao syndrome 0.11203622072935104 +2145 618734 Aneurysm, intracranial berry, 12 0.11199752241373062 +2146 619149 Lessel-Kreienkamp syndrome 0.11197599023580551 +2147 130060 Ehlers-Danlos syndrome, arthrochalasia type, 1 0.11193276196718216 +2148 183850 Spondyloepiphyseal dysplasia with punctate corneal dystrophy 0.11189181357622147 +2149 615809 Pontocerebellar hypoplasia, type 9 0.11188437789678574 +2150 265380 Alveolar capillary dysplasia with misalignment of pulmonary veins 0.1118643656373024 +2151 250300 Metaphyseal chondrodysplasia, Pena type 0.11184380948543549 +2152 614437 Cutis laxa, autosomal recessive, type IB 0.11179665476083755 +2153 617168 Aortic aneurysm, familial thoracic 10 0.11179196089506149 +2154 617864 Neurodevelopmental disorder with or without seizures and gait abnormalities 0.11178763955831528 +2155 184700 Polycystic ovary syndrome 1 0.11177528649568558 +2156 180300 Rheumatoid arthritis 0.1117599681019783 +2157 175750 Popliteal cyst 0.1117316409945488 +2158 215518 Ciliary discoordination due to random ciliary orientation 0.111729696393013 +2159 609040 Arrhythmogenic right ventricular dysplasia, familial, 9 0.11170242726802826 +2160 618891 Microcephaly, developmental delay, and brittle hair syndrome 0.11169615387916565 +2161 601634 Neural tube defects, folate-sensitive 0.11169609427452087 +2162 249210 Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 0.11169197410345078 +2163 600496 Maturity-onset diabetes of the young, type III 0.11162560433149338 +2164 220210 Ritscher-Schinzel syndrome 1 0.11162099242210388 +2165 248260 Magnesium, elevated red cell 0.11161572486162186 +2166 194470 Zinc, elevated plasma 0.11161572486162186 +2167 204800 AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF 0.11161572486162186 +2168 243400 Acetylation, slow 0.11161572486162186 +2169 601223 Neuronal intestinal dysplasia, type B 0.11161572486162186 +2170 270425 Sodium-Potassium-Atpase activity of red cell 0.11161572486162186 +2171 240400 HYPOASCORBEMIA 0.11161572486162186 +2172 168820 Paraoxonase 1 0.11161572486162186 +2173 618057 Drug metabolism, altered, CES1-related 0.11160155385732651 +2174 607831 Charcot-Marie-Tooth disease, axonal, type 2K 0.11160071939229965 +2175 263600 Polysaccharide, storage of unusual 0.1115911602973938 +2176 617164 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 0.11153329163789749 +2177 615436 Aortic aneurysm, familial thoracic 8 0.1115187257528305 +2178 265120 Surfactant metabolism dysfunction, pulmonary, 1 0.11150046437978745 +2179 257150 Neutrophil actin dysfunction 0.11148186028003693 +2180 610193 Arrhythmogenic right ventricular dysplasia, familial, 10 0.1114765927195549 +2181 619705 Immunodeficiency 93 and hypertrophic cardiomyopathy 0.11143200844526291 +2182 620138 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 0.1113818809390068 +2183 615344 Pulmonary hypertension, primary, 4 0.11135978251695633 +2184 607554 Atrial fibrillation, familial, 3 0.11134352535009384 +2185 613706 Noonan syndrome 7 0.11134127527475357 +2186 610682 Osteogenesis imperfecta, type VII 0.11133711785078049 +2187 605714 Cerebral amyloid angiopathy, APP-related 0.11133600771427155 +2188 618052 Cardiomyopathy, familial hypertrophic 27 0.11123239248991013 +2189 159950 Spinal muscular atrophy with progressive myoclonic epilepsy 0.1111871525645256 +2190 609909 Cardiomyopathy, dilated, 1P 0.11117083579301834 +2191 613820 Nephronophthisis 12 0.11114102602005005 +2192 616780 Oocyte maturation defect 2 0.11113572865724564 +2193 610655 Telangiectasia, hereditary hemorrhagic, type 4 0.1110769584774971 +2194 182950 Spinal arachnoiditis 0.11105065792798996 +2195 179000 Purpura simplex 0.11104156076908112 +2196 262800 Plasma clot retraction factor, deficiency of 0.1110350489616394 +2197 601144 Brugada syndrome 1 0.11101574450731277 +2198 619869 Neurocardiofaciodigital syndrome 0.11098809540271759 +2199 208155 Arthrogryposis multiplex congenita with whistling face 0.11098723113536835 +2200 609524 Filaminopathy, autosomal dominant 0.11096703261137009 +2201 277300 Spondylocostal dysostosis, autosomal recessive 1 0.11094202101230621 +2202 615555 Hyperprolactinemia 0.11087314039468765 +2203 612376 Acute promyelocytic leukemia 0.11085288971662521 +2204 257300 Mosaic variegated aneuploidy syndrome 1 0.1108517050743103 +2205 611067 Spinal muscular atrophy, distal, autosomal recessive, 4 0.11082524061203003 +2206 612304 Thrombophilia due to protein C deficiency, autosomal recessive 0.11081025749444962 +2207 619543 Boudin-Mortier syndrome 0.11077720671892166 +2208 105800 Aneurysm, intracranial berry, 1 0.11076442897319794 +2209 605275 Noonan syndrome 2 0.11067632585763931 +2210 619350 Visceral myopathy 2 0.11066258698701859 +2211 155255 MEDULLOBLASTOMA 0.11064118891954422 +2212 205250 Amyotrophic lateral sclerosis with polyglucosan bodies 0.11063593626022339 +2213 614175 Meckel syndrome, type 10 0.11054669320583344 +2214 227150 Ethanolaminosis 0.110537089407444 +2215 605258 Immunodeficiency with hyper-igm, type 2 0.11053653061389923 +2216 122430 Corneal hypesthesia with retinal abnormalities, sensorineural deafness,unusual facies, persistent ductus arteriosus, and mental retardation 0.1105310246348381 +2217 615361 Hypocalcemia, autosomal dominant 2 0.11052582412958145 +2218 613502 Agammaglobulinemia 4, autosomal recessive 0.11046943068504333 +2219 619844 Intellectual developmental disorder with or without peripheral neuropathy 0.1104607805609703 +2220 616307 Senior-Loken syndrome 8 0.11046023666858673 +2221 613328 Roifman-Chitayat syndrome 0.1104186624288559 +2222 603830 Long QT syndrome 3 0.11035120487213135 +2223 618276 Neurodegeneration, childhood-onset, with cerebellar atrophy 0.11032440513372421 +2224 615377 Atrial fibrillation, familial, 13 0.1103096604347229 +2225 134430 Factor VII and factor VIII, combined deficiency of 0.11030871421098709 +2226 600989 Infundibulopelvic dysgenesis 0.110296830534935 +2227 620025 Diaphragmatic hernia 4, with cardiovascular defects 0.11028827726840973 +2228 231630 Glutamate monosodium sensitivity 0.11028802394866943 +2229 176270 Prader-Willi syndrome 0.11026778817176819 +2230 604369 Salla disease 0.11018611490726471 +2231 213900 Cerebral sclerosis similar to pelizaeus-merzbacher disease 0.11015535891056061 +2232 607847 Neutropenia, nonimmune chronic idiopathic, of adults 0.11007954180240631 +2233 611895 Amyotrophic lateral sclerosis 9 0.11000371724367142 +2234 611890 Congenital arthrogryposis with anterior horn cell disease 0.10999972373247147 +2235 608654 Neuropathy, hereditary sensory and autonomic, type V 0.1098640114068985 +2236 617190 Shashi-Pena syndrome 0.10981302708387375 +2237 305550 Fingerprint body myopathy 0.10980941355228424 +2238 500003 Striatonigral degeneration, infantile, mitochondrial 0.10980132222175598 +2239 274400 Thyroid hormonogenesis, genetic defect in, 1 0.10978395491838455 +2240 245340 Erythrocyte lactate transporter defect 0.10974504798650742 +2241 264500 Pseudouridinuria and mental defect 0.10972490906715393 +2242 275120 Thyrotropin-Releasing hormone deficiency 0.10971561074256897 +2243 247450 Lymphoblastic transformation, intrinsic defect in 0.10969709604978561 +2244 247430 Lymphoblastic transformation, inhibition of 0.10969709604978561 +2245 247650 Lymphokine deficiency 0.10969709604978561 +2246 618349 Galloway-Mowat syndrome 8 0.10967360436916351 +2247 619707 Agammaglobulinemia 10, autosomal dominant 0.10963360965251923 +2248 618193 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 0.10961953550577164 +2249 618282 Hyper-IgE recurrent infection syndrome 3, autosomal recessive 0.10961495339870453 +2250 620167 Combined oxidative phosphorylation deficiency 57 0.10960683971643448 +2251 217150 Contractures, congenital, torticollis, and malignant hyperthermia 0.10958977043628693 +2252 613693 Long QT syndrome 6 0.10956994444131851 +2253 604777 Ichthyosis, congenital, autosomal recessive 5 0.10955208539962769 +2254 300855 Ogden syndrome 0.10951310396194458 +2255 619721 Bryant-Li-Bhoj neurodevelopmental syndrome 2 0.10946036875247955 +2256 160010 Myoglobinuria, autosomal dominant 0.10945787280797958 +2257 191500 Undritz anomaly 0.1094500795006752 +2258 615373 Left ventricular noncompaction 8 0.10938423126935959 +2259 617452 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 0.10937962681055069 +2260 618773 Lymphatic malformation 8 0.10935262590646744 +2261 611134 Meckel syndrome, type 4 0.10934777557849884 +2262 220100 Cystinuria 0.10934597253799438 +2263 607225 Spastic paralysis, infantile-onset ascending 0.10932349413633347 +2264 613611 Choanal atresia and lymphedema 0.10930053144693375 +2265 619223 Immunodeficiency 77 0.10926633328199387 +2266 615996 Bardet-Biedl syndrome 19 0.10924911499023438 +2267 277950 Winchester syndrome 0.10923897475004196 +2268 122455 Coronary artery dissection, spontaneous 0.10922149568796158 +2269 216400 Cockayne syndrome A 0.1092122495174408 +2270 613158 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 0.1091909259557724 +2271 215850 Cleft-Limb-Heart malformation syndrome 0.10918497294187546 +2272 614104 Mental retardation, autosomal dominant 7 0.10917568951845169 +2273 274900 Thyroid hormonogenesis, genetic defect in, 5 0.10912496596574783 +2274 236300 Hooft disease 0.10912436246871948 +2275 620203 Cardiomyopathy, dilated, 2H 0.10912328958511353 +2276 613730 Hemorrhagic destruction of the brain, subependymal calcification,and cataracts 0.10909722745418549 +2277 148000 Kaposi sarcoma, susceptibility to 0.1090618148446083 +2278 146200 Hypoparathyroidism, familial isolated 0.10903662443161011 +2279 610158 Corneal dystrophy, fuchs endothelial, 2 0.10901808738708496 +2280 611816 Temple-Baraitser syndrome 0.10897886008024216 +2281 620012 Developmental delay, hypotonia, and impaired language 0.10893940180540085 +2282 209900 Bardet-Biedl syndrome 1 0.10890807956457138 +2283 619345 Dysostosis multiplex, Ain-Naz type 0.10890369117259979 +2284 605572 Abdominal obesity-metabolic syndrome quantitative trait locus 2 0.10889744758605957 +2285 605552 Abdominal obesity-metabolic syndrome 1 0.10889744758605957 +2286 620007 Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects 0.10888653993606567 +2287 615441 Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness 0.10883466899394989 +2288 610688 Joubert syndrome 6 0.10881096869707108 +2289 614868 Immunodeficiency-110 with lymphoproliferation 0.10874426364898682 +2290 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 0.10873405635356903 +2291 278780 Xeroderma pigmentosum, complementation group G 0.1086977943778038 +2292 619361 Angioedema, hereditary, 5 0.10869355499744415 +2293 618651 Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 0.10869112610816956 +2294 619363 Angioedema, hereditary, 6 0.10868191719055176 +2295 611777 Brugada syndrome 2 0.10867413133382797 +2296 301025 Paganini-Miozzo syndrome 0.1086648553609848 +2297 248510 Mannosidosis, beta 0.10865162312984467 +2298 619401 Lymphatic malformation 11 0.10863197594881058 +2299 615615 Immunodeficiency 18 0.1085910052061081 +2300 617114 Myopathy, myofibrillar, 7 0.10856274515390396 +2301 617638 Immunodeficiency 11B with atopic dermatitis 0.10856208205223083 +2302 612998 Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0.10854823887348175 +2303 108800 Atrial septal defect 1 0.10853729397058487 +2304 267300 Renal tubular acidosis, distal, with progressive nerve deafness 0.10850702971220016 +2305 619376 Faundes-Banka syndrome 0.10845065116882324 +2306 223500 Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone 0.1084340512752533 +2307 122600 Spondylocostal dysostosis 5 0.10842130333185196 +2308 617873 Combined oxidative phosphorylation deficiency 35 0.10840312391519547 +2309 121050 Contractural arachnodactyly, congenital 0.1084018275141716 +2310 617205 Heterotaxy, visceral, 8, autosomal 0.10837361961603165 +2311 614850 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 0.10835748165845871 +2312 600919 Cardiac arrhythmia, ankyrin-B-related 0.10833223164081573 +2313 616025 Glycosylphosphatidylinositol biosynthesis defect 11 0.1083282083272934 +2314 619033 Vissers-Bodmer syndrome 0.10831430554389954 +2315 212066 Congenital disorder of glycosylation, type IIa 0.10827966034412384 +2316 125440 Dentin dysplasia with sclerotic bones 0.10825847089290619 +2317 145981 Hypocalciuric hypercalcemia, familial, type II 0.1082204207777977 +2318 617186 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 0.10819308459758759 +2319 604400 Arrhythmogenic right ventricular dysplasia, familial, 5 0.10818219929933548 +2320 614653 Neuropathy, hereditary sensory and autonomic, type VI 0.10813376307487488 +2321 616339 Epileptic encephalopathy, early infantile, 29 0.10806846618652344 +2322 618223 Vertebral anomalies and variable endocrine and T-cell dysfunction 0.10803442448377609 +2323 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 0.10800807923078537 +2324 617219 Chromosome 19q13.11 deletion syndrome, proximal 0.10798591375350952 +2325 619825 Aortic aneurysm, familial thoracic 12 0.10798324644565582 +2326 618143 Glycosylphosphatidylinositol biosynthesis defect 18 0.10797698050737381 +2327 616835 Meier-Gorlin syndrome 6 0.10789278894662857 +2328 229500 Fructose and galactose intolerance 0.10788875073194504 +2329 611876 Brugada syndrome 4 0.10788479447364807 +2330 219080 ACTH-independent macronodular adrenal hyperplasia 0.10785987228155136 +2331 611926 Immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis 0.10784963518381119 +2332 618154 Hennekam lymphangiectasia-lymphedema syndrome 3 0.10783714801073074 +2333 615907 Lymphatic malformation 4 0.10782378911972046 +2334 163800 Sick sinus syndrome 2 0.10782035440206528 +2335 194190 Wolf-Hirschhorn syndrome 0.1078081801533699 +2336 611561 Meckel syndrome, type 5 0.10780278593301773 +2337 618879 Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 0.10780028998851776 +2338 249000 Meckel syndrome 1 0.107796810567379 +2339 250100 Metachromatic leukodystrophy 0.10779201984405518 +2340 614844 Nephronophthisis 14 0.10773400217294693 +2341 613780 Aortic aneurysm, familial thoracic 7 0.10770910978317261 +2342 614621 UV-sensitive syndrome 2 0.10768812149763107 +2343 260600 Leukodystrophy, hypomyelinating, 3 0.10766386985778809 +2344 241120 Hypohidrosis with abnormal palmar dermal ridges 0.10766089707612991 +2345 620286 Myopathy, sarcoplasmic body 0.10761509090662003 +2346 133240 Esophageal ring, lower 0.1074330285191536 +2347 612285 Joubert syndrome 9 0.1074317991733551 +2348 212160 Carnitine deficiency, myopathic 0.10742794722318649 +2349 617951 Leukodystrophy, hypomyelinating, 15 0.10740115493535995 +2350 253600 Muscular dystrophy, limb-girdle, type 2A 0.10739630460739136 +2351 600886 Hyperferritinemia with or without cataract 0.10739430785179138 +2352 167750 Pancreas, annular 0.10737354308366776 +2353 608902 Drug metabolism, poor, cyp2d6-relateddrug metabolism, ultrarapid, cyp2d6-related, included 0.10734014213085175 +2354 275240 Tinea imbricata, susceptibility to 0.10733366012573242 +2355 138000 Glomuvenous malformations 0.10733366012573242 +2356 216700 Collagenosis, familial reactive perforating 0.10733366012573242 +2357 193900 White sponge nevus 1 0.10732463747262955 +2358 264080 Progesterone resistance 0.10732437670230865 +2359 424500 GONADOBLASTOMA 0.10732369869947433 +2360 204900 Amyloidosis, cutaneous bullous 0.10732058435678482 +2361 618922 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 0.10724838823080063 +2362 147920 Kabuki syndrome 1 0.10724065452814102 +2363 614226 Holoprosencephaly 11 0.10722635686397552 +2364 618523 Hyper-IgE recurrent infection syndrome 4, autosomal recessive 0.1072237491607666 +2365 603194 Meckel syndrome, type 2 0.10720804333686829 +2366 619922 Neurodevelopmental disorder with dystonia and seizures 0.1071973517537117 +2367 136880 Fundus albipunctatus 0.10719569027423859 +2368 221745 Deafness, sensorineural, Autosomal-Mitochondrial type 0.10717891156673431 +2369 192800 Vertebral fusion, posterior lumbosacral, with blepharoptosis 0.10715612024068832 +2370 615802 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities 0.10708413273096085 +2371 617006 Autoimmune disease, multisystem, infantile-onset, 2 0.10706465691328049 +2372 192500 Long QT syndrome 1 0.10704027861356735 +2373 616208 Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia 0.10699833929538727 +2374 115080 Cardiac conduction defectsudden cardiac death, included 0.10689383000135422 +2375 617527 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 0.10679774731397629 +2376 606392 Maturity-onset diabetes of the young, type 4 0.10676809400320053 +2377 610508 Maturity-onset diabetes of the young, type VII 0.10676809400320053 +2378 120000 Coarctation of aorta 0.10673423856496811 +2379 160900 Myotonic dystrophy 1 0.10666529834270477 +2380 209700 Atrophoderma vermiculata 0.10665956139564514 +2381 614779 Heterotaxy, visceral, 6, autosomal 0.1066586896777153 +2382 613769 Retinitis pigmentosa 44 0.10663528740406036 +2383 257100 Neutropenia, lethal congenital, with eosinophilia 0.10659804195165634 +2384 619549 Immunodeficiency 86, mycobacteriosis 0.106590636074543 +2385 619542 King-Denborough syndrome 0.1065845638513565 +2386 619465 Visceral neuropathy, familial, 2, autosomal recessive 0.10654591023921967 +2387 615548 Neuropathy, hereditary sensory and autonomic, type VII 0.10651154816150665 +2388 609049 Pierson syndrome 0.10650431364774704 +2389 300049 Heterotopia, periventricular, X-linked dominant 0.10649870336055756 +2390 611706 Migraine with or without aura, susceptibility to, 12 0.10647521913051605 +2391 301108 Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 0.10646957904100418 +2392 601708 Superior transverse scapular ligament, calcification of, familial 0.1064670979976654 +2393 614436 Charcot-Marie-Tooth disease, axonal, type 2P 0.10646598041057587 +2394 608030 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia 0.10644013434648514 +2395 617921 Amyotrophic lateral sclerosis, susceptibility to, 25 0.10642983019351959 +2396 613695 Long QT syndrome 5 0.10640954971313477 +2397 270150 Sjogren syndrome 0.10640214383602142 +2398 616721 Congenital disorder of glycosylation, type IIN 0.10637591779232025 +2399 610753 Alopecia areata 2 0.10636449605226517 +2400 611944 Lymphatic malformation 2 0.10629428178071976 +2401 620400 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 0.10626377165317535 +2402 612999 Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0.10625148564577103 +2403 616652 Yuan-Harel-Lupski syndrome 0.10624885559082031 +2404 140850 Hemangiomas, cavernous, of face and supraumbilical midline raphe 0.106238953769207 +2405 263520 Short-Rib thoracic dysplasia 6 with or without polydactyly 0.10616455972194672 +2406 620236 Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies 0.10612402856349945 +2407 619369 Lymphatic malformation 10 0.10611988604068756 +2408 606744 Seckel syndrome 2 0.10609127581119537 +2409 308960 Leukemia, acute, ?x-linked 0.10607936978340149 +2410 278250 Wrinkly skin syndrome 0.10605945438146591 +2411 131100 Multiple endocrine neoplasia 1 0.10605683922767639 +2412 600459 Arterial dissection with lentiginosis 0.10605386644601822 +2413 147950 Hypogonadotropic hypogonadism 2 with or without anosmia 0.10605227947235107 +2414 613657 D-2-hydroxyglutaric aciduria 2 0.10604368150234222 +2415 617478 Structural heart defects and renal anomalies syndrome 0.10598069429397583 +2416 617892 Amyotrophic lateral sclerosis, susceptibility to, 24 0.10590630769729614 +2417 610313 Cold-Induced sweating syndrome 2 0.10589875280857086 +2418 130650 Beckwith-Wiedemann syndrome 0.10587980598211288 +2419 616224 Myasthenic syndrome, congenital, 22 0.10587328672409058 +2420 615072 Brachydactyly, type A1, C 0.10586287826299667 +2421 612955 Long QT syndrome 12 0.10586037486791611 +2422 218040 Costello syndrome 0.1058477833867073 +2423 607501 Migraine without aura, susceptibility to, 4 0.10583296418190002 +2424 254940 Carey-Fineman-Ziter syndrome 0.105791375041008 +2425 173580 Platelet responsiveness to adrenaline, depressed 0.10578567534685135 +2426 616827 Muscular dystrophy, limb-girdle, type 2W 0.10577161610126495 +2427 619460 Luo-Schoch-Yamamoto syndrome 0.10575161129236221 +2428 619814 Developmental and epileptic encephalopathy 101 0.10566730052232742 +2429 214100 Peroxisome biogenesis disorder 1A (Zellweger) 0.10564692318439484 +2430 255110 Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced 0.10563702881336212 +2431 616166 Aortic aneurysm, familial thoracic 9 0.10563018172979355 +2432 300514 Fanconi anemia, complementation group B 0.10561150312423706 +2433 260100 Pa polymorphism of alpha-2-globulin 0.10559394210577011 +2434 602271 Spondylometaphyseal dysplasia, axial 0.10559075325727463 +2435 619934 Intellectual developmental disorder, autosomal dominant 68 0.10556869208812714 +2436 162700 Neutropenia, chronic familial 0.10554593056440353 +2437 300280 Uruguay faciocardiomusculoskeletal syndrome 0.10552480071783066 +2438 614063 N-acetylaspartate deficiency 0.1055193841457367 +2439 609814 Complement factor H deficiency 0.10547688603401184 +2440 253800 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 0.10546737164258957 +2441 614837 Hypogonadotropic hypogonadism 8 with or without anosmia 0.10545823723077774 +2442 610883 Potocki-Lupski syndrome 0.10542610287666321 +2443 259420 Osteogenesis imperfecta, type III 0.10541519522666931 +2444 607498 Migraine with or without aura, susceptibility to, 3 0.10539457947015762 +2445 610209 Migraine with or without aura, susceptibility to, 11 0.10539457947015762 +2446 607508 Migraine with or without aura, susceptibility to, 5 0.10539457947015762 +2447 157300 Migraine with or without aura, susceptibility to, 1 0.10539457947015762 +2448 300125 Migraine, familial typical, susceptibility to, 2 0.10539457947015762 +2449 610208 Migraine with or without aura, susceptibility to, 10 0.10539457947015762 +2450 262700 Pituitary hormone deficiency, combined, 4 0.10538987815380096 +2451 613980 Atrial fibrillation, familial, 9 0.10534213483333588 +2452 618724 Heyn-Sproul-Jackson syndrome 0.10532540827989578 +2453 612225 Maturity-onset diabetes of the young, type IX 0.10531798005104065 +2454 606394 Maturity-onset diabetes of the young 6 0.10531798005104065 +2455 620141 Developmental delay, language impairment, and ocular abnormalities 0.10530989617109299 +2456 618883 Hypoparathyroidism, familial isolated 2 0.10523132979869843 +2457 611722 Krabbe disease, atypical, due to saposin A deficiency 0.10522851347923279 +2458 614438 Cutis laxa, autosomal recessive, type IIIB 0.10522612184286118 +2459 615401 Immunodeficiency 8 0.10519363731145859 +2460 166300 Multicentric carpotarsal osteolysis syndrome 0.10515904426574707 +2461 608569 Cardiomyopathy, dilated, 1O 0.10513163357973099 +2462 300194 AMME complex 0.10511451214551926 +2463 619556 Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 0.10510464757680893 +2464 250790 Methemoglobinemia and ambiguous genitalia 0.10509543120861053 +2465 607371 Dystonia, juvenile-onset 0.10509436577558517 +2466 609008 Marfanoid habitus with situs inversus 0.10508795827627182 +2467 617062 Okur-Chung neurodevelopmental syndrome 0.10505601018667221 +2468 612422 Cardiomyopathy, familial restrictive, 3 0.10505037754774094 +2469 242050 Hypouricemia, hypercalcinuria, and decreased bone density 0.10504989326000214 +2470 211400 Bronchiectasis with or without elevated sweat chloride 1 0.10504606366157532 +2471 613021 Bronchiectasis with or without elevated sweat chloride 2 0.10504606366157532 +2472 620352 Developmental and epileptic encephalopathy 31B, autosomal recessive 0.10503153502941132 +2473 619651 Neurodevelopmental disorder with hyperkinetic movements and dyskinesia 0.1049906462430954 +2474 601812 Premature aging syndrome, Penttinen type 0.10494572669267654 +2475 614896 Sinoatrial node dysfunction and deafness 0.10494334995746613 +2476 617506 Noonan syndrome-like disorder with loose anagen hair 2 0.10494101047515869 +2477 182230 Septooptic dysplasia 0.10493837296962738 +2478 619402 Cardiomyopathy, familial hypertrophic, 28 0.10491446405649185 +2479 309400 Menkes disease 0.10485652834177017 +2480 261900 Pili torti, early-onset 0.10484278202056885 +2481 611818 Long QT syndrome 9 0.10481508076190948 +2482 604145 Cardiomyopathy, dilated, 1G 0.10481348633766174 +2483 618512 O'donnell-Luria-Rodan syndrome 0.10481251031160355 +2484 308220 Immunodeficiency, X-linked, with deficiency of 115,000 dalton surfaceglycoprotein 0.10480300337076187 +2485 166700 Buschke-Ollendorff syndrome 0.10474850237369537 +2486 610992 Phosphoserine aminotransferase deficiency 0.10473426431417465 +2487 133020 Erythermalgia, primary 0.10471087694168091 +2488 614022 Atrial fibrillation, familial, 10 0.10470671951770782 +2489 619773 Immunodeficiency 95 0.10470619052648544 +2490 252940 Mucopolysaccharidosis, type IIID 0.104674331843853 +2491 227270 Faciocardiomelic dysplasia, lethal 0.10464908182621002 +2492 109350 Gastroesophageal reflux 0.10464464873075485 +2493 271510 Spondyloepimetaphyseal dysplasia, sponastrime type 0.10464172065258026 +2494 616231 Myopathy, vacuolar, with CASQ1 aggregates 0.10461819916963577 +2495 207600 Takayasu arteritis 0.10460815578699112 +2496 620231 Short QT syndrome 7 0.10460115969181061 +2497 605582 Cardiomyopathy, dilated, 1K 0.10456959158182144 +2498 606482 Charcot-Marie-Tooth disease, dominant intermediate B 0.10453961044549942 +2499 100300 Adams-Oliver syndrome 1 0.10449743270874023 +2500 153880 Macular edema, cystoid 0.10445030778646469 +2501 614749 Hyperphosphatasia with mental retardation syndrome 2 0.10443203151226044 +2502 260350 Pancreatic cancer 0.104423888027668 +2503 619179 Microcephaly 26, primary, autosomal dominant 0.10438795387744904 +2504 615214 Agammaglobulinemia 7, autosomal recessive 0.10437826812267303 +2505 619608 Heterotaxy, visceral, 11, autosomal, with male infertility 0.10436128079891205 +2506 613152 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 0.10435129702091217 +2507 272350 Summitt syndrome 0.10434852540493011 +2508 619110 Arthrogryposis, distal, type 1C 0.10427698493003845 +2509 620369 Congenital myopathy 22B, severe fetal 0.10426447540521622 +2510 610374 Diabetes mellitus, transient neonatal 2 0.10424987226724625 +2511 606353 Primary lateral sclerosis, juvenile 0.10424958914518356 +2512 254950 Myopathy, granulovacuolar lobular, with electrical myotonia 0.10420695692300797 +2513 219150 Cutis laxa, autosomal recessive, type IIIA 0.10415904223918915 +2514 611615 Cardiomyopathy, dilated, 1X 0.10415059328079224 +2515 160300 Myopathy, distal, infantile-onset 0.10412482172250748 +2516 181350 Emery-Dreifuss muscular dystrophy 2, autosomal dominant 0.10412320494651794 +2517 616479 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 0.1041107028722763 +2518 619980 Braddock-Carey syndrome 1 0.1040639877319336 +2519 212060 Carbimazole sensitivity 0.10403846949338913 +2520 610798 Immunodeficiency due to defect in mapbp-interacting protein 0.10391466319561005 +2521 248910 Cutaneous mastocytosis, conductive hearing loss, and microtia 0.10390553623437881 +2522 616304 Myasthenic syndrome, congenital, 17 0.1039016842842102 +2523 158300 Arthrogryposis, distal, type 7 0.10389178991317749 +2524 613688 Long QT syndrome 2 0.10388636589050293 +2525 233670 Granulomatous disease with defect in neutrophil chemotaxis 0.10388035327196121 +2526 617395 Congenital disorder of glycosylation, type IIq 0.10386481881141663 +2527 619717 Intellectual developmental disorder, autosomal recessive 73 0.10385693609714508 +2528 130070 Ehlers-Danlos syndrome, spondylodysplastic type, 1 0.10383065044879913 +2529 618484 Arthrogryposis multiplex congenita 3, myogenic type 0.10382462292909622 +2530 234700 Heart block, congenital 0.10379556566476822 +2531 602668 Dystrophia myotonica 2 0.1037648618221283 +2532 260500 Papilloma of choroid plexus 0.10375931859016418 +2533 617899 Leukodystrophy, hypomyelinating, 14 0.10375884920358658 +2534 613172 Cardiomyopathy, dilated, 1DD 0.10375667363405228 +2535 609197 Glucocorticoid deficiency 3 0.10371741652488708 +2536 608800 Sudden infant death with dysgenesis of the testes syndrome 0.10367174446582794 +2537 167100 Hypertrophic osteoarthropathy, primary, autosomal dominant 0.10365384817123413 +2538 615583 Verheij syndrome 0.10360272228717804 +2539 274265 Thymic-Renal-Anal-Lung dysplasia 0.10360074788331985 +2540 601846 Vacuolar neuromyopathy 0.10359276086091995 +2541 607482 Cardiomyopathy, dilated, 1M 0.10357780009508133 +2542 614042 Moyamoya disease 5 0.10357712209224701 +2543 616399 Brugada syndrome 9 0.10357639193534851 +2544 615396 Left ventricular noncompaction 10 0.10356856137514114 +2545 619471 Bardet-Biedl syndrome 20 0.10354230552911758 +2546 300009 Dent disease 1 0.10353662073612213 +2547 616294 Cole-Carpenter syndrome 2 0.10353100299835205 +2548 617564 Meier-Gorlin syndrome 8 0.10352007299661636 +2549 609741 Cataract 22, multiple types 0.1035131886601448 +2550 604129 Epidermolysis bullosa pruriginosa 0.10350140184164047 +2551 615999 Familial dysalbuminemic hyperthyroxinemia 0.10349637269973755 +2552 618447 Long QT syndrome 8 0.10347982496023178 +2553 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 0.10347221046686172 +2554 619360 Angioedema, hereditary, 4 0.10346757620573044 +2555 618371 Turnpenny-Fry syndrome 0.10346541553735733 +2556 612347 Jervell and Lange-Nielsen syndrome 2 0.10344798862934113 +2557 192600 Cardiomyopathy, familial hypertrophic 1 0.10343299806118011 +2558 601477 Ribbing disease 0.10342666506767273 +2559 207500 Anus, imperforate 0.10342086106538773 +2560 194200 Wolff-Parkinson-White syndrome 0.10341375321149826 +2561 620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities 0.10340284556150436 +2562 229800 Fructosuria, essential 0.1034003421664238 +2563 620326 Congenital myopathy 21 with early respiratory failure 0.10340018570423126 +2564 612938 Growth retardation, developmental delay, coarse facies, and earlydeath 0.10338003188371658 +2565 226400 Epidermodysplasia verruciformis, susceptibility to, 1 0.10335173457860947 +2566 611705 Congenital myopathy 5 with cardiomyopathy 0.10334934294223785 +2567 211960 Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormalpalmar creases 0.10333377867937088 +2568 613387 Fatty liver disease, nonalcoholic, susceptibility to, 2 0.10332482308149338 +2569 613282 Fatty liver disease, nonalcoholic, susceptibility to, 1 0.10332482308149338 +2570 212780 Cenani-Lenz syndactyly syndrome 0.10325900465250015 +2571 614028 Hyperalphalipoproteinemia 2 0.1032450944185257 +2572 609536 C5 deficiency 0.10322702676057816 +2573 618131 Immunodeficiency 58 0.10321900248527527 +2574 161950 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1 0.10321217030286789 +2575 614323 Nevoid hypermelanosis, linear and whorled 0.10320121794939041 +2576 612712 Leber congenital amaurosis 13 0.10318891704082489 +2577 166250 Osteoglophonic dysplasia 0.1031847819685936 +2578 613694 Cardiomyopathy, dilated, 1U 0.10316547006368637 +2579 610474 Camptodactyly, tall stature, and hearing loss syndrome 0.10312433540821075 +2580 615916 Cardiomyopathy, dilated, 1nn 0.10312392562627792 +2581 273390 Tetra-Amelia with ectodermal dysplasia and lacrimal duct abnormalities 0.10311827063560486 +2582 613148 Inflammatory bowel disease 28, early onset, autosomal recessive 0.10308662056922913 +2583 186580 Blau syndrome 0.10308273881673813 +2584 277460 Ataxia with isolated vitamin E deficiency 0.10307449102401733 +2585 616368 CHOPS syndrome 0.10307157039642334 +2586 611091 Intellectual developmental disorder, autosomal recessive 5 0.10306716710329056 +2587 212070 Carboxypeptidase N deficiency 0.10298396646976471 +2588 612946 Hadziselimovic syndrome 0.102955661714077 +2589 617787 Mental retardation, autosomal dominant 50 0.10295429080724716 +2590 251945 Mitochondrial myopathy with A defect in mitochondrial-protein transport 0.1029336079955101 +2591 187760 Thoracolaryngopelvic dysplasia 0.10292550921440125 +2592 618625 Rothmund-thomson syndrome, type 1 0.10291218012571335 +2593 615981 Bardet-Biedl syndrome 2 0.10288408398628235 +2594 145980 Hypocalciuric hypercalcemia, familial, type I 0.10288096964359283 +2595 613500 Agammaglobulinemia 2, autosomal recessive 0.10287686437368393 +2596 273770 THREONINEMIA 0.1028430238366127 +2597 615897 Immunodeficiency 24 0.1028270348906517 +2598 614021 Ventricular tachycardia, catecholaminergic polymorphic, 3 0.10282593965530396 +2599 236100 Holoprosencephaly 1 0.10282360017299652 +2600 245150 Keutel syndrome 0.10280461609363556 +2601 606768 Myopathy, distal, with anterior tibial onset 0.10272850096225739 +2602 616314 Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency 0.10271961241960526 +2603 252350 Moyamoya disease 1 0.10271649807691574 +2604 310465 N syndrome 0.10264403373003006 +2605 140400 Progressive familial heart block, type II 0.10263577848672867 +2606 614954 Congenital heart defects, multiple types, 3 0.10262106359004974 +2607 190430 Triglyceride storage disease, type II 0.10254983603954315 +2608 614916 Ventricular tachycardia, catecholaminergic polymorphic, 4 0.10252629965543747 +2609 608583 Atrial fibrillation, familial, 1 0.10249607264995575 +2610 203300 Hermansky-Pudlak syndrome 1 0.1024957224726677 +2611 255600 Myosclerosis, autosomal recessive 0.1024419516324997 +2612 616683 Leukodystrophy, hypomyelinating, 12 0.10243353992700577 +2613 611820 Long QT syndrome 11 0.10242921859025955 +2614 614019 Lissencephaly 4 0.10242807865142822 +2615 619297 KINSSHIP syndrome 0.10242198407649994 +2616 109543 B-CELL MALIGNANCY, LOW-GRADE 0.10241727530956268 +2617 600080 Myelocytic leukemia-like syndrome, familial, chronic 0.10241727530956268 +2618 617425 Immunoskeletal dysplasia with neurodevelopmental abnormalities 0.10238239169120789 +2619 153100 Lymphatic malformation 1 0.10233426839113235 +2620 613252 Cardiomyopathy, dilated, 1EE 0.10232135653495789 +2621 219100 Cutis laxa, autosomal recessive, type IA 0.10230977088212967 +2622 601005 Timothy syndrome 0.10230377316474915 +2623 190200 Tremor of intention, ataxia, and lipofuscinosis 0.10228677839040756 +2624 615075 Neurodevelopmental disorder with spastic diplegia and visual defects 0.1022816076874733 +2625 187360 Temporal arteritis 0.10228052735328674 +2626 614672 Cardiomyopathy, dilated, 2B 0.10225842148065567 +2627 260800 PENTOSURIA 0.10224399715662003 +2628 158500 Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus 0.10219389200210571 +2629 184260 Osteochondrodysplasia 0.10219147056341171 +2630 201300 Neuropathy, hereditary sensory and autonomic, type II 0.10218580067157745 +2631 615206 Card11 immunodeficiency 0.10218145698308945 +2632 247200 Miller-Dieker lissencephaly syndrome 0.10214879363775253 +2633 620153 Mosaic variegated aneuploidy syndrome 4 0.10214810818433762 +2634 220400 Jervell and Lange-Nielsen syndrome 1 0.10213316977024078 +2635 618356 Neurodevelopmental disorder with central and peripheral motor dysfunction 0.10212704539299011 +2636 157800 Cardiospondylocarpofacial syndrome 0.10212434828281403 +2637 613670 Mental retardation with language impairment and with or without autistic features 0.10211397707462311 +2638 180200 RETINOBLASTOMA 0.10210327059030533 +2639 609289 Syncope, familial vasovagal 0.10208606719970703 +2640 613848 Osteogenesis imperfecta, type X 0.10207246243953705 +2641 191420 Ulna metaphyseal dysplasia syndrome 0.10204719752073288 +2642 619365 Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 0.10204271972179413 +2643 115250 Collagenoma, familial cutaneous 0.10202755779027939 +2644 154570 Mannose 6-phosphate receptor recognition defect, Lebanese type 0.10199692100286484 +2645 615515 Amyotrophic lateral sclerosis 19 0.10199373215436935 +2646 260565 Peho syndrome 0.10197145491838455 +2647 145900 Hypertrophic neuropathy of dejerine-sottas 0.10194431245326996 +2648 605362 Cardiomyopathy, dilated, 1J 0.10193420201539993 +2649 617282 Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 0.10189556330442429 +2650 263630 Polysyndactyly with cardiac malformation 0.10186431556940079 +2651 616323 Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency 0.10184371471405029 +2652 200600 Achondrogenesis, type IA 0.10182716697454453 +2653 613642 Cardiomyopathy, dilated, 1GG 0.10181935876607895 +2654 607450 Arrhythmogenic right ventricular dysplasia, familial, 8 0.10180804133415222 +2655 601287 Muscular dystrophy, limb-girdle, type 2F 0.1017962247133255 +2656 253550 Spinal muscular atrophy, type II 0.10178880393505096 +2657 265800 Pycnodysostosis 0.10168915241956711 +2658 123100 Craniosynostosis 1 0.10167470574378967 +2659 617054 Striatonigral degeneration, childhood-onset 0.10162369161844254 +2660 612577 Amyotrophic lateral sclerosis 11 0.10158752650022507 +2661 605231 Bardet-Biedl syndrome 6 0.10158689320087433 +2662 218200 Cranial nerves, recurrent paresis of 0.10153461247682571 +2663 618493 Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 0.10152780264616013 +2664 617809 Geleophysic dysplasia 3 0.10151776671409607 +2665 311900 TARP syndrome 0.10148180276155472 +2666 208600 Asthma, short stature, and elevated iga 0.10147083550691605 +2667 300448 Alpha-Thalassemia myelodysplasia syndrome 0.1014614924788475 +2668 604169 Left ventricular noncompaction 1 0.10143931955099106 +2669 115300 Carotenemia, familial 0.10143060982227325 +2670 617602 Congenital heart defects and skeletal malformations syndrome 0.10139333456754684 +2671 164300 Oculopharyngeal muscular dystrophy 0.10137181729078293 +2672 611938 Ventricular tachycardia, catecholaminergic polymorphic, 2 0.1013541966676712 +2673 115200 Cardiomyopathy, dilated, 1A 0.10135244578123093 +2674 619351 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 0.10129178315401077 +2675 125850 Maturity-onset diabetes of the young, type 1 0.10128325968980789 +2676 125851 Maturity-onset diabetes of the young, type II 0.10126729309558868 +2677 125852 Diabetes mellitus, insulin-dependent, 2 0.10126729309558868 +2678 610443 Koolen-De Vries syndrome 0.10126522928476334 +2679 617926 Orofaciodigital syndrome XVII 0.10124354809522629 +2680 614250 Narcolepsy 7 0.10122089087963104 +2681 609128 Arthrogryposis, distal, type 4 0.10118468850851059 +2682 190351 Trichorhinophalangeal syndrome, type III 0.10117758065462112 +2683 233400 Perrault syndrome 1 0.10104409605264664 +2684 615084 Mitochondrial DNA depletion syndrome 11 0.10104354470968246 +2685 615547 Schaaf-Yang syndrome 0.1009855642914772 +2686 261670 Phosphoglycerate mutase, muscle, deficiency of 0.10096176713705063 +2687 605635 Hyperaldosteronism, familial, type II 0.10094381123781204 +2688 261540 Peters-plus syndrome 0.10088592767715454 +2689 618782 Long QT syndrome 16 0.1008736714720726 +2690 608106 Immunodeficiency with hyper IgM, type 5 0.10086795687675476 +2691 219550 Cysteine peptiduria 0.10083399713039398 +2692 610338 Right pulmonary artery, anomalous origin of, familial 0.1008332222700119 +2693 259775 Raine syndrome 0.10081955045461655 +2694 613735 Brain malformations with or without urinary tract defects 0.10080288350582123 +2695 147791 Jacobsen syndrome 0.10080185532569885 +2696 616249 Long QT syndrome 15 0.10079369693994522 +2697 233650 Combined cellular and humoral immune defects with granulomas 0.10076101869344711 +2698 614434 Cutis laxa, autosomal dominant 2 0.10071415454149246 +2699 615351 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 0.10070428997278214 +2700 268000 Retinitis pigmentosa 0.10069205611944199 +2701 619638 Spondylometaphyseal dysplasia, Pagnamenta type 0.10064782202243805 +2702 271640 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 0.10057602822780609 +2703 601493 Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction 0.10056290775537491 +2704 615286 Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies 0.10054214298725128 +2705 613320 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type 0.10052938759326935 +2706 205100 Amyotrophic lateral sclerosis 2, juvenile 0.10052619874477386 +2707 614099 Cranioectodermal dysplasia 3 0.10050676763057709 +2708 609622 Short QT syndrome 3 0.10049791634082794 +2709 616647 Epileptic encephalopathy, early infantile, 35 0.10049368441104889 +2710 211369 Brachydactyly, type A2, with microcephaly 0.10048669576644897 +2711 226850 EPILEPSY-TELANGIECTASIA 0.10048409551382065 +2712 620270 Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities 0.10048313438892365 +2713 614609 Coffin-Siris syndrome 4 0.10046693682670593 +2714 604286 Muscular dystrophy, limb-girdle, type 2E 0.10045728832483292 +2715 618868 Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline 0.10044945031404495 +2716 617352 Mulchandani-Bhoj-Conlin syndrome 0.10044144093990326 +2717 134540 Factor IX and factor XI, combined deficiency of 0.1004316657781601 +2718 619656 Loeys-Dietz syndrome 6 0.10042616724967957 +2719 242870 Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes 0.10042046010494232 +2720 610758 Cerebrooculofacioskeletal syndrome 4 0.10038596391677856 +2721 212067 Congenital disorder of glycosylation, type I/IIx 0.10036122053861618 +2722 618985 Growth hormone insensitivity with immune dysregulation 2, autosomal dominant 0.10029745101928711 +2723 614305 Sclerosteosis 2 0.10026606172323227 +2724 609942 Noonan syndrome 3 0.10024663805961609 +2725 618389 Fetal akinesia deformation sequence 3 0.10022628307342529 +2726 616812 Muscular dystrophy, limb-girdle, autosomal recessive 25 0.1002185046672821 +2727 613119 Brugada syndrome 6 0.10019874572753906 +2728 619366 Angioedema, hereditary, 7 0.10015876591205597 +2729 269150 Schinzel-Giedion midface-retraction syndrome 0.10014607012271881 +2730 611556 Glycogen storage disease 0, muscle 0.10010755807161331 +2731 267900 Retinal telangiectasia and hypogammaglobulinemia 0.10008437186479568 +2732 608099 Muscular dystrophy, limb-girdle, type 2D 0.10008314251899719 +2733 261800 Pierre Robin syndrome 0.10007163137197495 +2734 151600 Nail disorder, nonsyndromic congenital, 3 0.10006652027368546 +2735 172870 Pigmented paravenous chorioretinal atrophy 0.10005099326372147 +2736 113700 Breasts and/or nipples, aplasia or hypoplasia of, 1 0.10004670172929764 +2737 607516 Migraine with or without aura, susceptibility to, 6 0.1000465601682663 +2738 112410 Hypertension and brachydactyly syndrome 0.10004022717475891 +2739 611391 Cataract 33, multiple types 0.10002843290567398 +2740 616098 Immunodeficiency 37 0.10002636164426804 +2741 157700 Mitral valve prolapse 1 0.09996069967746735 +2742 613803 Meier-Gorlin syndrome 3 0.09988874942064285 +2743 615959 Centronuclear myopathy 5 0.09988676756620407 +2744 613697 Cardiomyopathy, dilated, 1V 0.09982317686080933 +2745 615222 Smith-Mccort dysplasia 2 0.09982014447450638 +2746 604308 Mass syndrome 0.0998157262802124 +2747 615582 Loeys-Dietz syndrome 5 0.09980353713035583 +2748 619931 Intellectual developmental disorder, autosomal recessive 76 0.09975133836269379 +2749 113800 Epidermolytic hyperkeratosis 0.09973958134651184 +2750 612069 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 0.09972399473190308 +2751 133200 Erythrokeratodermia variabilis et progressiva 1 0.09972374886274338 +2752 179600 Raynaud disease 0.09969795495271683 +2753 611528 Arrhythmogenic right ventricular dysplasia 12 0.09966640174388885 +2754 266270 Ramon syndrome 0.09965231269598007 +2755 243100 Internal carotid arteries, hypoplasia of 0.09962311387062073 +2756 613873 Cardiomyopathy, familial hypertrophic, 17 0.09961836785078049 +2757 601626 Leukemia, acute myeloid 0.09953316301107407 +2758 606856 Pancreatic cancer, susceptibility to, 1 0.09952770173549652 +2759 219200 Cutis laxa, autosomal recessive, type IIA 0.09951989352703094 +2760 618309 Epidermodysplasia verruciformis, susceptibility to, 5 0.099436916410923 +2761 217000 Complement component 2 deficiency 0.09942775219678879 +2762 612098 Cardiomyopathy, familial hypertrophic, 11 0.09941057860851288 +2763 113900 Progressive familial heart block, type IA 0.09940695017576218 +2764 617349 Aortic aneurysm, familial thoracic 11, susceptibility to 0.09939782321453094 +2765 276822 Ulnar agenesis and endocardial fibroelastosis 0.09938994795084 +2766 147421 Inclusion body myositis 0.09938806295394897 +2767 300718 Myopathy, reducing body, X-linked, childhood-onset 0.09934157133102417 +2768 605820 Nonaka myopathy 0.09933347254991531 +2769 616462 Acrofacial dysostosis, Cincinnati type 0.09928060322999954 +2770 617403 Cutis laxa, autosomal recessive, type IID 0.09927818924188614 +2771 614380 Complement component 4A deficiency 0.0992448702454567 +2772 300844 Mental retardation, X-linked 19 0.09922901540994644 +2773 254190 Myasthenia, congenital, refractory to acetylcholinesterase inhibitors 0.09922675788402557 +2774 618067 Epileptic encephalopathy, early infantile, 66 0.09915540367364883 +2775 611943 Riddle syndrome 0.09911402314901352 +2776 300438 HSD10 mitochondrial disease 0.0991094633936882 +2777 609165 Erythroderma, ichthyosiform, congenital reticular 0.09910919517278671 +2778 611880 Cardiomyopathy, dilated, 2A 0.09909746795892715 +2779 613495 Immunodeficiency, common variable, 5 0.09908842295408249 +2780 142400 Hernia, hiatus 0.09905369579792023 +2781 607829 Mitral valve prolapse, myxomatous 2 0.09904160350561142 +2782 610840 Mitral valve prolapse, myxomatous 3 0.09904160350561142 +2783 617047 Cardiomyopathy, familial hypertrophic, 26 0.09900821000337601 +2784 214400 Charcot-Marie-Tooth disease, type 4A 0.09898467361927032 +2785 222730 Dicarboxylicamino aciduria 0.09896311163902283 +2786 618284 Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum 0.09896203875541687 +2787 233910 Hyperphenylalaninemia, BH4-deficient, B 0.09894836694002151 +2788 607785 Juvenile myelomonocytic leukemia 0.0989433079957962 +2789 619356 Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome 0.09892355650663376 +2790 612877 Cardiomyopathy, dilated, 1BB 0.09892343729734421 +2791 128101 Dystonia 4, torsion, autosomal dominant 0.09891454875469208 +2792 613090 Bartter syndrome, type 4B, neonatal, with sensorineural deafness 0.09889587759971619 +2793 236700 Mckusick-Kaufman syndrome 0.09886348247528076 +2794 238710 Hyperlysinemia due to defect in lysine transport into mitochondria 0.09884743392467499 +2795 269250 Schneckenbecken dysplasia 0.09882750362157822 +2796 614963 Leptin receptor deficiency 0.09880752861499786 +2797 605637 Myopathy, proximal, and ophthalmoplegia 0.09877410531044006 +2798 311100 Optic atrophy--spastic paraplegia syndrome 0.09873153269290924 +2799 603284 Cerebral cavernous malformations 2 0.09866588562726974 +2800 606554 Episodic ataxia, type 3 0.09865783900022507 +2801 611431 Legius syndrome 0.0986478328704834 +2802 620310 Congenital myopathy 20 0.09862402081489563 +2803 176450 Currarino syndrome 0.09848995506763458 +2804 266500 Refsum disease 0.09848791360855103 +2805 612716 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 0.09848731011152267 +2806 602485 Hyperinsulinemic hypoglycemia, familial, 3 0.09848495572805405 +2807 615990 Bardet-Biedl syndrome 13 0.09847487509250641 +2808 182255 Skeletal dysplasia with delayed epiphyseal and carpal bone ossification 0.09846636652946472 +2809 105805 Aneurysm of interventricular septum 0.09846500307321548 +2810 204850 Amyloidosis of gingiva and conjunctiva, with mental retardation 0.09837284684181213 +2811 613163 GABA-transaminase deficiency 0.09836232662200928 +2812 616051 Microcephaly 13, primary, autosomal recessive 0.09834180772304535 +2813 601927 Lymphedema, cardiac septal defects, and characteristic facies 0.09832607209682465 +2814 115000 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0.0983080193400383 +2815 619698 Mucopolysaccharidosis, type X 0.09827724099159241 +2816 620247 Cardiomyopathy, dilated, 1OO 0.09824749827384949 +2817 251300 Galloway-mowat syndrome 1 0.09823805838823318 +2818 276800 TYROSINOSIS 0.09823307394981384 +2819 612350 Ehlers-Danlos syndrome, spondylodysplastic type, 3 0.09821008890867233 +2820 601162 Spastic paraplegia 9A, autosomal dominant 0.09820163995027542 +2821 167320 Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 0.09818045794963837 +2822 615042 Congenital disorder of glycosylation, type Iu 0.09817769378423691 +2823 612348 Thrombophilia due to decreased release of tissue plasminogen 0.0981646478176117 +2824 607016 Scheie syndrome 0.09815573692321777 +2825 261630 Hyperphenylalaninemia, bh4-deficient, C 0.09815371036529541 +2826 617964 Leukodystrophy, hypomyelinating, 16 0.09814594686031342 +2827 123880 Cystic angiomatosis of bone, diffuse 0.09814254939556122 +2828 245600 Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 0.09812705963850021 +2829 246470 Leukemia, acute myelocytic, with polyposis coli and colon cancer 0.09809450805187225 +2830 620014 Lymphatic malformation 12 0.09808928519487381 +2831 618550 Oocyte maturation defect 7 0.0980755165219307 +2832 602771 Rigid spine muscular dystrophy 1 0.09804359078407288 +2833 615833 Epileptic encephalopathy, early infantile, 21 0.09803850203752518 +2834 613723 Muscular dystrophy, limb-girdle, type 2Q 0.09802044928073883 +2835 201000 Carpenter syndrome 1 0.09801235795021057 +2836 151800 Lipomatosis, multiple symmetric, with or without peripheral neuropathy 0.09796211868524551 +2837 620089 Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction 0.09794864803552628 +2838 211900 Tumoral calcinosis, hyperphosphatemic, familial, 1 0.09793252497911453 +2839 611363 Atrial septal defect 4 0.09791859984397888 +2840 615376 Charcot-Marie-Tooth disease, recessive intermediate C 0.09789497405290604 +2841 239300 Hyperphosphatasia with mental retardation 0.09787402302026749 +2842 134900 Fibrinolytic defect 0.09785176813602448 +2843 615135 Maple syrup urine disease, mild variant 0.09784410893917084 +2844 613029 Glioma susceptibility 3 0.09781289845705032 +2845 119915 Cluster headache, familial 0.09780977666378021 +2846 244450 Kaufman oculocerebrofacial syndrome 0.09776312857866287 +2847 167220 Pacman dysplasia 0.09775706380605698 +2848 618065 Pontocerebellar hypoplasia, type 1D 0.09775573760271072 +2849 616941 Agammaglobulinemia 8, autosomal dominant 0.09775230288505554 +2850 601559 Stuve-Wiedemann syndrome 0.09770355373620987 +2851 131705 Transient bullous dermolysis of the newborn 0.09767276793718338 +2852 149400 Hyperekplexia 1 0.09767220914363861 +2853 131850 Epidermolysis bullosa dystrophica, pretibial 0.0976644828915596 +2854 618414 Myopathy, congenital, with fast-twitch (type II) fiber atrophy 0.0976259857416153 +2855 238350 HYPERLEXIA 0.09757810086011887 +2856 259600 Multicentric osteolysis, nodulosis, and arthropathy 0.09757731109857559 +2857 609122 Aneurysm, intracranial berry, 3 0.09756994247436523 +2858 223360 Orthostatic hypotension 1, due to DBH deficiency 0.0975361317396164 +2859 210710 Microcephalic osteodysplastic primordial dwarfism, type I 0.09753331542015076 +2860 620235 Rhabdomyolysis, susceptibility to, 1 0.09751725196838379 +2861 184250 Spondyloepimetaphyseal dysplasia, Strudwick type 0.09750639647245407 +2862 212090 Cardiac septal defects with coarctation of the aorta 0.09750016778707504 +2863 618464 Paragangliomas 6 0.09749868512153625 +2864 617039 Patent ductus arteriosus 3 0.09748690575361252 +2865 607411 Patent ductus arteriosus 1 0.09748690575361252 +2866 620198 Thyroid hormone metabolism, abnormal, 3 0.09748674184083939 +2867 268900 SARCOSINEMIA 0.09748270362615585 +2868 302960 Chondrodysplasia punctata 2, X-linked dominant 0.09746046364307404 +2869 613955 Amyloidosis, primary localized cutaneous, 2 0.09744998067617416 +2870 617247 FANCONI ANEMIA, COMPLEMENTATION GROUP U 0.09743465483188629 +2871 618992 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 0.09741835296154022 +2872 618920 Arrhythmogenic right ventricular dysplasia, familial, 14 0.09738874435424805 +2873 153400 Lymphedema-Distichiasis syndrome 0.09737541526556015 +2874 266250 Radiculoneuropathy, fatal neonatal 0.09737402200698853 +2875 618103 Intellectual developmental disorder, autosomal recessive 64 0.09734392166137695 +2876 615095 Microcephaly 10, primary, autosomal recessive 0.09732314199209213 +2877 212500 Cataract 46, juvenile-onset 0.09731503576040268 +2878 300422 Fg syndrome 4 0.09730719029903412 +2879 620232 Joint contracture, osteochondromas, and B-cell lymphoma 0.09726685285568237 +2880 618646 Diencephalic-mesencephalic junction dysplasia syndrome 2 0.09725378453731537 +2881 613838 Cardiomyopathy, familial hypertrophic, 16 0.09724253416061401 +2882 617280 Atrial fibrillation, familial, 18 0.09722371399402618 +2883 608354 Capillary malformation-arteriovenous malformation 1 0.09718864411115646 +2884 608758 Cardiomyopathy, familial hypertrophic, 10 0.09718560427427292 +2885 215550 Circumvallate placenta syndrome 0.09718237817287445 +2886 500007 Cyclic vomiting syndrome 0.0971720889210701 +2887 618367 Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination 0.0971689522266388 +2888 181180 Say syndrome 0.09715264290571213 +2889 614249 Mental retardation, autosomal recessive 18 0.09713906049728394 +2890 614261 Microcephaly-Capillary malformation syndrome 0.0970873311161995 +2891 216550 Cohen syndrome 0.0970146656036377 +2892 612838 Brugada syndrome 5 0.09697509557008743 +2893 608133 Retinitis pigmentosa 7 0.0969485491514206 +2894 614833 Microcephaly, short stature, and polymicrogyria with or without seizures 0.09694674611091614 +2895 614373 Amyotrophic lateral sclerosis 16, juvenile 0.09693644940853119 +2896 606002 Spinocerebellar ataxia, autosomal recessive 1 0.09692209213972092 +2897 616414 Autoimmune interstitial lung, joint, and kidney disease 0.09690912067890167 +2898 610357 Spastic paraplegia 30, autosomal recessive 0.09689974039793015 +2899 619172 Hermansky-Pudlak syndrome 11 0.0968748927116394 +2900 619793 Restrictive dermopathy 2 0.09686509519815445 +2901 137050 Gamma-A-Globulin, defect in assembly of 0.09683562815189362 +2902 613763 Cataract 16, multiple types 0.0968160480260849 +2903 619096 Mismatch repair cancer syndrome 2 0.09681153297424316 +2904 616038 Neu-Laxova syndrome 2 0.09678558260202408 +2905 612956 Ventricular fibrillation, paroxysmal familial, 2 0.09677902609109879 +2906 617146 Arthrogryposis, distal, with impaired proprioception and touch 0.09676361083984375 +2907 259050 Primrose syndrome 0.09674885123968124 +2908 145000 Hyperparathyroidism 1 0.09673524647951126 +2909 124950 Deafness, sensorineural, with peripheral neuropathy and arterial disease 0.09670939296483994 +2910 613151 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 0.09669411182403564 +2911 613779 Complement component 3 deficiency, autosomal recessive 0.09668423980474472 +2912 618874 Chromosome 17q11.2 duplication syndrome, 1.4-Mb 0.09668144583702087 +2913 147430 Marsili syndrome 0.09665108472108841 +2914 613646 Methylmalonic aciduria, transient, due to transcobalamin receptor defect 0.09661851823329926 +2915 225410 Ehlers-Danlos syndrome, dermatosparaxis type 0.09657174348831177 +2916 618343 Polymicrogyria with or without vascular-type EDS 0.09656865149736404 +2917 157640 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 0.09656665474176407 +2918 600850 Schizophrenia 4 0.09653221070766449 +2919 108770 Atrial standstill 1 0.09651380777359009 +2920 312612 Retinitis pigmentosa 6 0.09651131927967072 +2921 259270 Osteodysplasty, precocious, of danks, mayne, and kozlowski 0.096506766974926 +2922 104400 Amelia and terminal transverse hemimelia 0.09650283306837082 +2923 608022 Diaphanospondylodysostosis 0.0964885875582695 +2924 609284 Nemaline myopathy 1 0.09647731482982635 +2925 164280 Feingold syndrome 1 0.09647681564092636 +2926 226960 Lowry-Wood syndrome 0.09647224098443985 +2927 614417 Epilepsy, familial temporal lobe, 5 0.09646667540073395 +2928 135500 Zimmermann-Laband syndrome 1 0.09645124524831772 +2929 168300 Paramyotonia congenita 0.09637986123561859 +2930 247410 Lymphedema-Hypoparathyroidism syndrome 0.09637445956468582 +2931 614498 Rigidity and multifocal seizure syndrome, lethal neonatal 0.09634539484977722 +2932 607398 Glucocorticoid deficiency 2 0.0963120311498642 +2933 184705 Steinfeld syndrome 0.09630649536848068 +2934 609452 Myopathy, myofibrillar, 4 0.09630148857831955 +2935 228355 Fetal iodine deficiency disorder 0.09628448635339737 +2936 617173 Intellectual developmental disorder with cardiac arrhythmia 0.09627927094697952 +2937 613251 Cardiomyopathy, familial hypertrophic, 14 0.09625759720802307 +2938 610738 Neutropenia, severe congenital 3, autosomal recessive 0.09625672549009323 +2939 155900 Melkersson-Rosenthal syndrome 0.09624404460191727 +2940 618160 Pituitary hormone deficiency, combined or isolated, 7 0.09624136239290237 +2941 616287 Lethal congenital contracture syndrome 8 0.09624068439006805 +2942 619362 Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 0.09622848778963089 +2943 176780 Pelvic organ prolapse 0.09619530290365219 +2944 176430 Premature chromatid separation trait 0.09619420021772385 +2945 255990 Nathalie syndrome 0.09616119414567947 +2946 147710 INTUSSUSCEPTION 0.09615808725357056 +2947 618548 Epileptic encephalopathy, early infantile, 77 0.09613048285245895 +2948 619472 VISS syndrome 0.09610536694526672 +2949 607598 Lethal congenital contracture syndrome 2 0.09605510532855988 +2950 182212 Shprintzen-Goldberg craniosynostosis syndrome 0.09600912034511566 +2951 616094 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 0.09598059207201004 +2952 619630 Immunodeficiency 88 0.09597966820001602 +2953 614807 Myopathy, centronuclear, 4 0.09588812291622162 +2954 618741 Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 0.09586527198553085 +2955 619492 Cardiomyopathy, dilated, 2E 0.09585010260343552 +2956 615350 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 0.09583736211061478 +2957 615280 Cardiofaciocutaneous syndrome 4 0.09579066932201385 +2958 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 0.0957672968506813 +2959 618050 Mental retardation, autosomal dominant 57 0.09575589001178741 +2960 300989 Meester-Loeys syndrome 0.09574747830629349 +2961 215050 Chondrodysplasia calcificans metaphysealis 0.09574494510889053 +2962 147630 Insulinomatosis and diabetes mellitus 0.09573051333427429 +2963 271630 Brachyolmia type 1, Toledo type 0.09572339057922363 +2964 224700 Ebstein anomaly 0.09572304785251617 +2965 618680 Pancreatic cancer, susceptibility to, 5 0.09571922570466995 +2966 608627 Amyotrophic lateral sclerosis 8 0.09571479260921478 +2967 304150 Occipital horn syndrome 0.09570801258087158 +2968 182210 Shprintzen omphalocele syndrome 0.09568362683057785 +2969 161900 Renal failure, progressive, with hypertension 0.09568257629871368 +2970 274600 Pendred syndrome 0.09566926956176758 +2971 617090 Microcephaly 17, primary, autosomal recessive 0.09566176682710648 +2972 619036 Myopathy, epilepsy, and progressive cerebral atrophy 0.0956452488899231 +2973 615482 Ciliary dyskinesia, primary, 25 0.09562571346759796 +2974 605809 Myasthenic syndrome, congenital, 4A, slow-channel 0.09561891108751297 +2975 615398 Multiple congenital anomalies-hypotonia-seizures syndrome 3 0.09561330080032349 +2976 253290 Multiple pterygium syndrome, Lethal type 0.09558691084384918 +2977 618077 Inflammatory bowel disease 29 0.09557178616523743 +2978 151050 Lenz-Majewski hyperostotic dwarfism 0.09556542336940765 +2979 188570 Thyroid hormone resistance, generalized, autosomal dominant 0.09555619955062866 +2980 617140 Zttk syndrome 0.09555309265851974 +2981 237000 HYDROXYPROLINEMIA 0.09554900228977203 +2982 609924 Aminoacylase 1 deficiency 0.09550373256206512 +2983 615378 Atrial fibrillation, familial, 14 0.09548994898796082 +2984 619178 Myofibrillar myopathy 11 0.09548574686050415 +2985 150600 Legg-Calve-Perthes disease 0.09546919912099838 +2986 604381 Patent ductus arteriosus and bicuspid aortic valve with hand anomalies 0.09546263515949249 +2987 618848 Muscular dystrophy, limb-girdle, autosomal recessive 26 0.09545538574457169 +2988 608236 Slowed nerve conduction velocity, autosomal dominant 0.09545115381479263 +2989 618808 Intellectual developmental disorder with poor growth and with or without seizures or ataxia 0.0954459086060524 +2990 618914 Neurodevelopmental, jaw, eye, and digital syndrome 0.09543819725513458 +2991 268100 Enhanced S-cone syndrome 0.09540929645299911 +2992 257320 Lissencephaly 2 0.09537773579359055 +2993 613881 Cardiomyopathy, dilated, 1HH 0.09537012130022049 +2994 235500 Hemosiderosis, pulmonary, with deficiency of gamma-A globulin 0.095332570374012 +2995 276600 Tyrosine transaminase deficiency 0.09532087296247482 +2996 275400 Oliver-Mcfarlane syndrome 0.09530194103717804 +2997 619025 Combined oxidative phosphorylation deficiency 50 0.09530089050531387 +2998 134510 Factor VIII and factor IX, combined deficiency of 0.09528829157352448 +2999 602086 Arrhythmogenic right ventricular dysplasia, familial, 3 0.0952799990773201 +3000 243310 Baraitser-Winter syndrome 1 0.0952787846326828 +3001 617865 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 0.09526214748620987 +3002 175780 Brain small vessel disease 1 with or without ocular anomalies 0.09524259716272354 +3003 276950 Vacterl association with hydrocephalus 0.09523472934961319 +3004 603511 Muscular dystrophy, limb-girdle, type 1E 0.095122791826725 +3005 123700 Cutis laxa, autosomal dominant 1 0.09510692209005356 +3006 618654 Myopathy, congenital with structured cores and Z-line abnormalities 0.09502935409545898 +3007 146700 Ichthyosis vulgaris 0.0950217992067337 +3008 245450 LACTIC ACIDURIA DUE TO D-LACTIC ACID 0.09502162784337997 +3009 147820 Internal carotid artery, spontaneous dissection of 0.09499775618314743 +3010 264120 Prolactin deficiency with obesity and enlarged testes 0.0949864387512207 +3011 611879 Cardiomyopathy, dilated, 1Z 0.09496182948350906 +3012 310470 Neuropathy, hereditary sensory, X-linked 0.09496115148067474 +3013 300310 Immunodeficiency 61 0.09493831545114517 +3014 618205 Snijders Blok-Campeau syndrome 0.0949365645647049 +3015 616341 Epileptic encephalopathy, early infantile, 30 0.09493623673915863 +3016 609308 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 0.09492402523756027 +3017 271980 Succinic semialdehyde dehydrogenase deficiency 0.09491891413927078 +3018 308950 Lesch-Nyhan phenotype with normal hgprt 0.09491626173257828 +3019 115195 Cardiomyopathy, familial hypertrophic, 2 0.09490633010864258 +3020 615716 Hyperphosphatasia with impaired intellectual development syndrome 4 0.09490411728620529 +3021 613686 Spondylocostal dysostosis 4, autosomal recessive 0.09490329772233963 +3022 616247 Long QT syndrome 14 0.09488794952630997 +3023 615248 Cardiomyopathy, dilated, 1KK 0.09488757699728012 +3024 608807 Muscular dystrophy, limb-girdle, autosomal recessive 10 0.09486259520053864 +3025 614069 Immunodeficiency-Centromeric instability-facial anomalies syndrome2 0.09483790397644043 +3026 187260 Telangiectasia, hereditary benign 0.09480282664299011 +3027 225753 Pontocerebellar hypoplasia, type 4 0.09478039294481277 +3028 613494 Immunodeficiency, common variable, 4 0.09477917104959488 +3029 600419 Angiokeratoma corporis diffusum with arteriovenous fistulas 0.09475980699062347 +3030 613345 Hypokalemic periodic paralysis, type 2 0.09472403675317764 +3031 609528 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 0.09468986839056015 +3032 270450 Insulin-Like growth factor I, resistance to 0.09464780986309052 +3033 616570 Cerebrooculofacioskeletal syndrome 3 0.09463973343372345 +3034 619371 Cardiomyopathy, dilated, 2D 0.09463933855295181 +3035 615511 Myopathy due to myoadenylate deaminase deficiency 0.09463710337877274 +3036 618010 Glycosylphosphatidylinositol biosynthesis defect 17 0.09463270753622055 +3037 613480 Lymphatic malformation 3 0.09463159739971161 +3038 600151 Bardet-Biedl syndrome 3 0.09459006041288376 +3039 138070 GLUCOGLYCINURIA 0.09458792954683304 +3040 312150 Multiple pterygium syndrome, X-linked 0.0945814698934555 +3041 610006 2-Methylbutyryl-Coa dehydrogenase deficiency 0.09457907825708389 +3042 604801 Muscular dystrophy, congenital, 1B 0.09456492960453033 +3043 619475 Developmental delay, impaired speech, and behavioral abnormalities 0.09453605860471725 +3044 122470 Cornelia de Lange syndrome 1 0.09453533589839935 +3045 611553 Noonan syndrome 5 0.09451550990343094 +3046 616281 Neurodevelopmental disorder with microcephaly and spastic paraplegia 0.09451492130756378 +3047 618135 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 0.09451088309288025 +3048 616710 Parkinson disease 22, autosomal dominant 0.09449511021375656 +3049 613002 Immunodeficiency 83, susceptibility to viral infections 0.0944892168045044 +3050 182410 Sneddon syndrome 0.0944812074303627 +3051 618806 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant 0.09446985274553299 +3052 140500 Heart, malformation of 0.09443043172359467 +3053 236730 Urofacial syndrome 0.09442033618688583 +3054 619420 Martsolf syndrome 2 0.09440279752016068 +3055 603165 Dermatitis, atopic 0.09440059959888458 +3056 192445 Ventricular extrasystoles with syncope, perodactyly, and Robin sequence 0.09436789155006409 +3057 608118 Zinc deficiency, transient neonatal 0.09435102343559265 +3058 146830 Immune deficiency, familial variable 0.09433720260858536 +3059 114200 Camptodactyly 1 0.09429275989532471 +3060 273750 3-M syndrome 1 0.09424982964992523 +3061 619141 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 0.09424487501382828 +3062 617507 Peho-Like syndrome 0.09424012899398804 +3063 161000 Naegeli-Franceschetti-Jadassohn syndrome 0.09421351552009583 +3064 620001 Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities 0.09419497847557068 +3065 616126 Immunodeficiency 38 with basal ganglia calcification 0.09417369216680527 +3066 614023 Phosphoserine phosphatase deficiency 0.09414215385913849 +3067 256840 Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 0.09413807839155197 +3068 615249 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 0.09413031488656998 +3069 251200 Microcephaly, primary autosomal recessive, 1 0.09412378072738647 +3070 617158 Myopathy, distal, with rimmed vacuoles 0.094114750623703 +3071 265400 Pulmonary hypertension, primary, autosomal recessive 0.0941057801246643 +3072 609813 Spondylocostal dysostosis 3, autosomal recessive 0.09409064799547195 +3073 247950 Lysine malabsorption syndrome 0.09408289939165115 +3074 193700 Arthrogryposis, distal, type 2A 0.09408127516508102 +3075 613243 Cardiomyopathy, familial hypertrophic, 13 0.09406688809394836 +3076 613953 Immunodeficiency 51 0.09404639899730682 +3077 613204 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 0.09399599581956863 +3078 151623 Li-Fraumeni syndrome 0.09397000819444656 +3079 611718 Hypomagnesemia 4, renal 0.09395892173051834 +3080 615986 Bardet-Biedl syndrome 9 0.09395704418420792 +3081 615522 Cole disease 0.09391562640666962 +3082 612937 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 0.09387415647506714 +3083 612657 Cone-rod dystrophy 12 0.09380776435136795 +3084 613265 Waardenburg syndrome, type 4B 0.09379072487354279 +3085 257970 Oculorenocerebellar syndrome 0.09379012882709503 +3086 612290 Microtia, hearing impairment, and cleft palate 0.0937865749001503 +3087 115430 Carpal tunnel syndrome 0.09377425163984299 +3088 235510 Hennekam lymphangiectasia-lymphedema syndrome 0.0937485545873642 +3089 615883 Myopathy, tubular aggregate, 2 0.09373705089092255 +3090 613087 Atrial septal defect 6 0.09372121840715408 +3091 601390 Van Maldergem syndrome 1 0.09371666610240936 +3092 616471 Bethlem myopathy 2 0.0936996266245842 +3093 108900 Atrial septal defect with atrioventricular conduction defects 0.09369154274463654 +3094 242530 Ichthyosis, mental retardation, dwarfism, and renal impairment 0.0936422199010849 +3095 142350 Hernia, double inguinal 0.09363696724176407 +3096 618655 Myopathy, distal, 6, adult onset 0.09363056719303131 +3097 229120 Fountain syndrome 0.09362766146659851 +3098 617213 Sedoheptulokinase deficiency 0.09362562000751495 +3099 611493 Atrial fibrillation, familial, 4 0.09360790252685547 +3100 166000 Enchondromatosis, multiple 0.09359961003065109 +3101 184900 Stiff skin syndrome 0.09359612315893173 +3102 107500 Aortic arch anomaly with peculiar facies and mental retardation 0.09359347820281982 +3103 613237 Glomerulosclerosis, focal segmental, 5 0.09357620775699615 +3104 182190 Sinus node disease and myopia 0.09357316046953201 +3105 612918 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 0.09355133026838303 +3106 618973 Neurodegeneration, infantile-onset, biotin-responsive 0.09354085475206375 +3107 600721 D-2-Hydroxyglutaric aciduria 1 0.09353983402252197 +3108 610623 Cataract 11, multiple types 0.09353400766849518 +3109 609029 Emanuel syndrome 0.09351447224617004 +3110 617035 Patent ductus arteriosus 2 0.09350976347923279 +3111 617072 Muscular dystrophy, limb-girdle, type 2Y 0.09349930286407471 +3112 620378 Charcot-Marie-Tooth disease, dominant intermediate A 0.09347688406705856 +3113 200400 Achalasia, familial esophageal 0.09347684681415558 +3114 249420 Frank-ter Haar syndrome 0.09344790875911713 +3115 617336 Nemaline myopathy 11, autosomal recessive 0.09344134479761124 +3116 158900 Facioscapulohumeral muscular dystrophy 1 0.09343746304512024 +3117 615524 Microphthalmia, syndromic 12 0.0933861956000328 +3118 619607 Heterotaxy, visceral, 10, autosomal, with male infertility 0.09336565434932709 +3119 133700 Exostoses, multiple, type I 0.09333395212888718 +3120 254130 Miyoshi muscular dystrophy 1 0.09333343058824539 +3121 222600 Diastrophic dysplasia 0.0933317169547081 +3122 612626 Chromosome 15q26-qter deletion syndrome 0.09332192689180374 +3123 270420 Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies 0.09330008924007416 +3124 619120 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 0.09329739212989807 +3125 602014 Hypomagnesemia 1, intestinal 0.09328088909387589 +3126 613818 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 0.0932597890496254 +3127 156510 Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly 0.09322776645421982 +3128 613793 Blood group, cromer system 0.09321218729019165 +3129 109650 Behcet syndrome 0.09320865571498871 +3130 166350 Osseous heteroplasia, progressive 0.09320621192455292 +3131 615829 Xia-Gibbs syndrome 0.09319473803043365 +3132 300868 Multiple congenital anomalies-hypotonia-seizures syndrome 2 0.09318973124027252 +3133 603472 Neuronal intranuclear inclusion disease 0.09317109733819962 +3134 613255 Cardiomyopathy, familial hypertrophic, 15 0.09316734969615936 +3135 278760 Xeroderma pigmentosum, complementation group F 0.09316390007734299 +3136 257500 Obesity-Hypoventilation syndrome 0.09316359460353851 +3137 179613 Recombinant chromosome 8 syndrome 0.09314288198947906 +3138 607131 Al-Gazali-Bakalinova syndrome 0.09308712184429169 +3139 614227 Hyperuricemic nephropathy, familial juvenile, 3 0.09305785596370697 +3140 609886 Glomerulocystic kidney disease with hyperuricemia and isosthenuria 0.09305379539728165 +3141 236250 Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity 0.09303293377161026 +3142 264300 Pseudohermaphroditism, male, with gynecomastia 0.09302530437707901 +3143 613124 Hydrops fetalis, nonimmune, with gracile bones and dysmorphic features 0.09302371740341187 +3144 150700 Leiomyoma of vulva and esophagus 0.09302311390638351 +3145 617982 Ververi-Brady syndrome 0.09295666962862015 +3146 206700 Gillespie syndrome 0.0929253026843071 +3147 107970 Arrhythmogenic right ventricular dysplasia, familial, 1 0.09289990365505219 +3148 312190 Radial aplasia, X-linked 0.09287451207637787 +3149 107100 Anorectal anomalies 0.09283625334501266 +3150 161700 Necrotizing encephalomyelopathy, subacute, of leigh, adult 0.09279868751764297 +3151 224690 Meier-Gorlin syndrome 1 0.09277556836605072 +3152 251250 Microcephaly with cervical spine fusion anomalies 0.09275569021701813 +3153 600145 Sacral defect with anterior meningocele 0.09274334460496902 +3154 612776 Hypoglossia with situs inversus 0.09272615611553192 +3155 614640 UV-sensitive syndrome 3 0.09271556884050369 +3156 123320 Creatine phosphokinase, elevated serum 0.09269838780164719 +3157 154020 Hypomagnesemia 2, renal 0.0926903560757637 +3158 175505 Polyposis of gastric fundus without polyposis coli 0.09267216175794601 +3159 620278 Congenital myopathy 2C, severe infantile, autosomal dominant 0.09265819936990738 +3160 115310 Paragangliomas 4 0.09263648837804794 +3161 600705 Satoyoshi syndrome 0.09263602644205093 +3162 619872 Immunodeficiency 101 (varicella zoster virus-specific) 0.0926181823015213 +3163 619790 Oculopharyngodistal myopathy 4 0.09260332584381104 +3164 619058 Mitochondrial complex IV deficiency, nuclear type 14 0.09256333112716675 +3165 175510 Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial 0.09252465516328812 +3166 163200 Schimmelpenning-Feuerstein-Mims syndrome 0.09251866489648819 +3167 236660 Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis 0.09251336753368378 +3168 620166 Muscular dystrophy, congenital, with or without seizures 0.09250973165035248 +3169 180000 Retinal arteries, tortuosity of 0.09248246997594833 +3170 609153 Pseudohyperkalemia, familial, 2, due to red cell leak 0.09247476607561111 +3171 615518 Immunodeficiency 13 0.09247101843357086 +3172 107550 Aortic arch interruption, facial palsy, and retinal coloboma 0.09245370328426361 +3173 271600 Spondyloepiphyseal dysplasia tarda, autosomal recessive 0.09243553131818771 +3174 613319 Miyoshi muscular dystrophy 3 0.09242316335439682 +3175 605321 Frontoocular syndrome 0.09241867810487747 +3176 221700 Deafness, neural, with atypical atopic dermatitis 0.0923989787697792 +3177 614326 Feingold syndrome 2 0.09239454567432404 +3178 616867 Spinal muscular atrophy with congenital bone fractures 2 0.09238317608833313 +3179 619329 Fibromuscular dysplasia, multifocal 0.0923738107085228 +3180 619097 Mismatch repair cancer syndrome 3 0.09235269576311111 +3181 110000 Blepharochalasis, superior 0.09234066307544708 +3182 613678 Brachyolmia type 2 0.09231343865394592 +3183 612240 Atrial fibrillation, familial, 7 0.09230449795722961 +3184 617709 Neurodevelopmental disorder with microcephaly, ataxia, and seizures 0.09229490906000137 +3185 268700 Saccharopinuria 0.09227645397186279 +3186 615414 Microcephaly 11, primary, autosomal recessive 0.0922761857509613 +3187 619101 Mismatch repair cancer syndrome 4 0.09226875007152557 +3188 266265 Congenital disorder of glycosylation, type IIc 0.09226121008396149 +3189 113950 Bundle branch block, familial isolated complete right 0.09224735200405121 +3190 613286 Cardiomyopathy, dilated, 1FF 0.092243492603302 +3191 269880 Short syndrome 0.09223844110965729 +3192 616921 Dyskinesia, limb and orofacial, infantile-onset 0.09221047163009644 +3193 259440 Osteogenesis imperfecta, type IX 0.09217461198568344 +3194 108950 Atrial tachyarrhythmia with short pr interval 0.0921710804104805 +3195 178370 Pulmonary atresia with ventricular septal defect 0.09211738407611847 +3196 210100 Beta-aminoisobutyric acid, urinary excretion of 0.09211044013500214 +3197 219500 CYSTATHIONINURIA 0.09211044013500214 +3198 615991 Bardet-Biedl syndrome 14 0.09210837632417679 +3199 603285 Cerebral cavernous malformations 3 0.0921022891998291 +3200 215480 Choroid plexus calcification and mental retardation 0.09209674596786499 +3201 618302 Intellectual developmental disorder, autosomal recessive 68 0.09209217876195908 +3202 613530 Muscular dystrophy, limb-girdle, type 1H 0.09208130836486816 +3203 255160 Myopathy, myosin storage, autosomal recessive 0.09206544607877731 +3204 615988 Bardet-Biedl syndrome 11 0.09206540137529373 +3205 618307 Epidermodysplasia verruciformis, susceptibility to, 4 0.09206286072731018 +3206 121350 Coracoclavicular joint, anomalous 0.09206026047468185 +3207 147050 Ige responsiveness, atopic 0.09202677756547928 +3208 602087 Arrhythmogenic right ventricular dysplasia, familial, 4 0.09201714396476746 +3209 614432 Ventricular septal defect 3 0.0920078232884407 +3210 613153 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 0.09200209379196167 +3211 610181 Aicardi-Goutieres syndrome 2 0.09196892380714417 +3212 618019 Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly 0.09196879714727402 +3213 616052 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 0.09196412563323975 +3214 614483 Brain small vessel disease 2 0.0919574424624443 +3215 271520 Spondylocostal dysostosis with anal atresia and urogenital anomalies 0.09193909168243408 +3216 617232 Muscular dystrophy, limb-girdle, type 2Z 0.09192647784948349 +3217 620068 Charcot-Marie-Tooth disease, axonal, type 2II 0.09192411601543427 +3218 620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia 0.09191062301397324 +3219 601163 Diaphragmatic defects, limb deficiencies, and ossification defects of skull 0.0919051393866539 +3220 100100 Prune belly syndrome 0.09190133959054947 +3221 615011 Phosphohydroxylysinuria 0.09189741313457489 +3222 616470 Ullrich congenital muscular dystrophy 2 0.09189441055059433 +3223 619701 Yoon-Bellen neurodevelopmental syndrome 0.09188816696405411 +3224 614455 Charcot-Marie-Tooth disease, dominant intermediate E 0.09188754856586456 +3225 618969 Immunodeficiency 70 0.0918850526213646 +3226 618940 Oculopharyngodistal myopathy 2 0.0918726995587349 +3227 609242 Kanzaki disease 0.09186587482690811 +3228 615217 Ataxia-Oculomotor apraxia 3 0.09185784310102463 +3229 211500 Bulbar palsy, progressive, of childhood 0.09185680747032166 +3230 619133 Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia 0.09183675050735474 +3231 176920 Proteus syndrome, somatic 0.091817706823349 +3232 602342 Pierpont syndrome 0.09181014448404312 +3233 614433 Atrial septal defect 8 0.0918087586760521 +3234 616817 Microcephaly, short stature, and impaired glucose metabolism 2 0.09180862456560135 +3235 616723 Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type 0.09180063009262085 +3236 193000 Vesicoureteral reflux 1 0.09178760647773743 +3237 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease 0.09177105873823166 +3238 615636 Joubert syndrome 21 0.09176461398601532 +3239 616866 Spinal muscular atrophy with congenital bone fractures 1 0.09175635874271393 +3240 265150 Pulmonary atresia with intact ventricular septum 0.09175324440002441 +3241 252300 Morquio syndrome C 0.09173906594514847 +3242 619637 Dystonia 32 0.09173159301280975 +3243 220220 Dandy-Walker malformation with postaxial polydactyly 0.09172448515892029 +3244 212890 Cerebellar ataxia, benign, with thermoanalgesia 0.09171079099178314 +3245 257350 Nuchal bleb, familial 0.09169701486825943 +3246 613078 Nijmegen breakage syndrome-like disorder 0.09169266372919083 +3247 617182 Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia 0.09169041365385056 +3248 600092 Nivelon-Nivelon-Mabille syndrome 0.09165796637535095 +3249 601321 Neurofibromatosis-Noonan syndrome 0.09165683388710022 +3250 618331 Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 0.09164907783269882 +3251 613135 Parkinsonism-Dystonia, infantile, 1 0.09163464605808258 +3252 620323 Spastic paraplegia 70, autosomal recessive 0.09159903228282928 +3253 615911 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 0.09156673401594162 +3254 619080 Kilquist syndrome 0.09154564142227173 +3255 608612 Mandibuloacral dysplasia with type B lipodystrophy 0.09151405096054077 +3256 618829 Nabais Sa-de vries syndrome, type 2 0.09151105582714081 +3257 614049 Atrial fibrillation, familial, 11 0.09149853885173798 +3258 265450 Pulmonary venoocclusive disease 1 0.09149343520402908 +3259 106700 Total anomalous pulmonary venous return 1 0.09146548062562943 +3260 169500 Leukodystrophy, adult-onset, autosomal dominant 0.09145641326904297 +3261 619148 Chromosome 13q33-q34 deletion syndrome 0.0914253517985344 +3262 616777 Seckel syndrome 9 0.09141203761100769 +3263 604393 Leber congenital amaurosis 4 0.09141058474779129 +3264 264070 Hyperphenylalaninemia, BH4-deficient, D 0.09137098491191864 +3265 615926 Webb-Dattani syndrome 0.09135179221630096 +3266 619024 Combined oxidative phosphorylation deficiency 49 0.0913461223244667 +3267 262710 Pituitary dwarfism with large sella turcica 0.09133781492710114 +3268 614257 Chromosome 20q11-q12 deletion syndrome 0.09133317321538925 +3269 614065 Myopathy, distal, 4 0.09131668508052826 +3270 301022 Neurodevelopmental disorder, X-linked, with craniofacial abnormalities 0.09129500389099121 +3271 214800 Charge syndrome 0.0912773460149765 +3272 619185 Joubert syndrome 37 0.091267891228199 +3273 614114 Mosaic variegated aneuploidy syndrome 2 0.09123517572879791 +3274 118000 Cervical vertebral bridge 0.09121938794851303 +3275 135950 Finger locking, recurrent, with intrauterine growth retardation andproportionate short stature 0.09119182080030441 +3276 156530 Metatropic dysplasia 0.09118641912937164 +3277 104300 Alzheimer disease 0.09118445962667465 +3278 217800 Macular dystrophy, corneal, 1 0.09117478877305984 +3279 619352 Ataxia, intention tremor, and hypotonia syndrome, childhood-onset 0.09116992354393005 +3280 607736 Charcot-Marie-Tooth disease, type 2J 0.09115041047334671 +3281 170500 Hyperkalemic periodic paralysis 0.09111524373292923 +3282 108000 Arteries, anomalies of 0.0911082997918129 +3283 234820 Hemangiopericytoma, malignant 0.0911082997918129 +3284 617916 Neurodegeneration with brain iron accumulation 7 0.09110558032989502 +3285 123000 Craniometaphyseal dysplasia, autosomal dominant 0.09110305458307266 +3286 608978 Meacham syndrome 0.09109769761562347 +3287 618348 Galloway-Mowat syndrome 7 0.09105716645717621 +3288 275100 Hypothyroidism, congenital, nongoitrous, 4 0.09104479849338531 +3289 188100 Thumb deformity 0.09101895987987518 +3290 133701 Exostoses, multiple, type II 0.09100060164928436 +3291 608808 Transposition of the great arteries, dextro-looped 1 0.09099699556827545 +3292 182290 Smith-Magenis syndrome 0.09099522978067398 +3293 243200 Intracranial hypertension, idiopathic 0.0909871980547905 +3294 613026 Chromosome 19q13.11 deletion syndrome, distal 0.09097948670387268 +3295 617732 Facial palsy, congenital, with ptosis and velopharyngeal dysfunction 0.09097161889076233 +3296 617915 Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 0.0909665897488594 +3297 239900 Hypertrophic neuropathy and cataract 0.09096645563840866 +3298 611544 Cataract 17, multiple types 0.0909569263458252 +3299 620150 Epidermolytic hyperkeratosis 2 0.0909399539232254 +3300 615978 Immunodeficiency 27B 0.09093710780143738 +3301 300867 Kabuki syndrome 2 0.09089623391628265 +3302 131950 Epidermolysis bullosa simplex, Ogna type 0.09086619317531586 +3303 609052 Spondylometaphyseal dysplasia, type A4 0.09085080772638321 +3304 617119 Bardet-Biedl syndrome 22 0.0908469557762146 +3305 184300 Spondylosis, cervical 0.09082276374101639 +3306 618912 Sorbitol dehydrogenase deficiency with peripheral neuropathy 0.09081802517175674 +3307 606777 GLUT1 deficiency syndrome 1, infantile onset, severe 0.09081177413463593 +3308 239510 Hyperprolinemia, type II 0.09075161814689636 +3309 605588 Charcot-Marie-Tooth disease, axonal, type 2B1 0.09073193371295929 +3310 607812 Craniolenticulosutural dysplasia 0.0907038226723671 +3311 619071 Leukodystrophy, hypomyelinating, 20 0.09069114178419113 +3312 613493 Immunodeficiency, common variable, 3 0.09067042917013168 +3313 115196 Cardiomyopathy, familial hypertrophic, 3 0.09063486009836197 +3314 615707 Immunodeficiency 20 0.0906195119023323 +3315 614342 Mental retardation, autosomal recessive 30 0.09057782590389252 +3316 609273 Nemaline myopathy 6 0.09055545181035995 +3317 604519 Inflammatory bowel disease 3 0.09054520726203918 +3318 612354 Inflammatory bowel disease 21 0.09054520726203918 +3319 233270 Gombo syndrome 0.09053365141153336 +3320 114900 Carcinoid tumors, intestinal 0.09051241725683212 +3321 613155 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1 0.09050891548395157 +3322 601675 Trichothiodystrophy 1, photosensitive 0.09050745517015457 +3323 300406 FG syndrome 3 0.09050176292657852 +3324 125520 Cayler cardiofacial syndrome 0.09047797322273254 +3325 240000 Hyperuricemia, infantile, with abnormal behavior and normal hypoxanthineguanine phosphoribosyltransferase 0.09047757089138031 +3326 606217 Atrioventricular septal defect, susceptibility to, 2 0.09045926481485367 +3327 618453 Intellectual developmental disorder with short stature and variable skeletal anomalies 0.09045793861150742 +3328 550500 Myoglobinuria, recurrent 0.09044463187456131 +3329 155140 Meckel diverticulum 0.09044346213340759 +3330 613157 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 0.09043876081705093 +3331 613159 Nephronophthisis-Like nephropathy 1 0.09043194353580475 +3332 216330 Cleidocranial dysplasia, recessive form 0.09039640426635742 +3333 618618 Spondyloepiphyseal dysplasia, Nishimura type 0.09038981795310974 +3334 140450 Heart-hand syndrome, Spanish type 0.09037012606859207 +3335 616943 Trichothiodystrophy 6, nonphotosensitive 0.09035667777061462 +3336 617022 Lethal congenital contracture syndrome 10 0.09035594761371613 +3337 222100 Diabetes mellitus, insulin-dependent-1 0.09034927189350128 +3338 614688 Pontine tegmental cap dysplasia 0.09032956510782242 +3339 616500 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 0.09031009674072266 +3340 601322 Porencephaly, cerebellar hypoplasia, and internal malformations 0.09030351787805557 +3341 614541 Chromosome 16q22 deletion syndrome 0.09029056131839752 +3342 618960 Mitchell syndrome 0.09027928113937378 +3343 616355 Mental retardation, autosomal dominant 35 0.09025591611862183 +3344 211480 Buerger disease 0.09024754911661148 +3345 137200 Neuromyotonia and axonal neuropathy, autosomal recessive 0.09024246037006378 +3346 619745 Noonan syndrome 14 0.0902385413646698 +3347 600325 Aminopterin syndrome sine aminopterin 0.090220607817173 +3348 617235 Myoclonus, intractable, neonatal 0.09018871933221817 +3349 620386 Nemaline myopathy 5B, autosomal recessive, childhood-onset 0.09018164128065109 +3350 606545 Ichthyosis, congenital, autosomal recessive 3 0.09016770869493484 +3351 608995 Dyslexia, susceptibility to, 8 0.0901552364230156 +3352 619854 Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities 0.09015119820833206 +3353 618387 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 0.0901397094130516 +3354 612921 3-M syndrome 2 0.0901276096701622 +3355 614815 Joubert syndrome 18 0.09008366614580154 +3356 115210 Cardiomyopathy, familial restrictive, 1 0.09007403999567032 +3357 619173 Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities 0.09007308632135391 +3358 184200 SPONDYLOLISTHESIS 0.09005144983530045 +3359 310980 OMPHALOCELE 0.09003555029630661 +3360 164750 Omphalocele due to duplication of 1p31.3 0.09003555029630661 +3361 300600 Aland island eye disease 0.0900256410241127 +3362 608266 Parathyroid carcinoma 0.09000127762556076 +3363 608423 Muscular dystrophy, limb-girdle, autosomal dominant 2 0.08997578918933868 +3364 619180 Microcephaly 27, primary, autosomal dominant 0.08996263146400452 +3365 259200 Blount disease, adolescent 0.0899352878332138 +3366 617599 Epileptic encephalopathy, early infantile, 55 0.08993077278137207 +3367 607791 Charcot-Marie-Tooth disease, dominant intermediate D 0.08991740643978119 +3368 613507 Glycogen storage disease XV 0.08989541977643967 +3369 187501 Tetralogy of Fallot and glaucoma 0.08988829702138901 +3370 619075 Neurodevelopmental disorder with alopecia and brain abnormalities 0.08988498151302338 +3371 149700 Lacrimal duct defect 0.0898849293589592 +3372 184400 Sprengel deformity 0.08988343179225922 +3373 601612 Lung agenesis, congenital heart defects, and thumb anomalies syndrome 0.08987605571746826 +3374 612018 Cataract, juvenile, with microcornea and glucosuria 0.08986198157072067 +3375 611962 Hunter-Macdonald syndrome 0.08985193073749542 +3376 175450 Polyposis, intestinal, with multiple exostoses 0.08982902020215988 +3377 606072 Rippling muscle disease 0.08981934189796448 +3378 240800 Hypoglycemia of infancy, leucine-sensitive 0.08979124575853348 +3379 268400 Rothmund-Thomson syndrome 0.0897677093744278 +3380 182990 Spinal intradural arachnoid cysts 0.0897449180483818 +3381 300653 Phosphoglycerate kinase 1 deficiency 0.08972006291151047 +3382 610099 Myopathy, distal 3 0.0896688774228096 +3383 215470 Boucher-Neuhauser syndrome 0.08966373652219772 +3384 615633 Short-Rib thoracic dysplasia 11 with or without polydactyly 0.08965496718883514 +3385 251450 Desbuquois dysplasia 1 0.08965136855840683 +3386 619480 Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 0.089632548391819 +3387 143870 Hypercalciuria, absorptive, susceptibility to 0.0896248072385788 +3388 617830 Developmental and epileptic encephalopathy 58 0.08961411565542221 +3389 255800 Schwartz-jampel syndrome, type 1 0.08959434926509857 +3390 209600 Atrioventricular dissociation 0.0895717591047287 +3391 610756 Cerebrooculofacioskeletal syndrome 2 0.0895468220114708 +3392 612954 Myopathy, myofibrillar, 6 0.08953818678855896 +3393 617030 Myopathy, distal, 5 0.08950409293174744 +3394 620201 Congenital disorder of glycosylation, type IIz 0.08947139233350754 +3395 618884 Proteinuria, chronic benign 0.08945909887552261 +3396 603965 Focal segmental glomerulosclerosis 2 0.08942452073097229 +3397 263210 Gillessen-Kaesbach-Nishimura syndrome 0.08942224830389023 +3398 618395 Spondyloepimetaphyseal dysplasia with joint laxity, type 3 0.08941905200481415 +3399 618476 Brain abnormalities, neurodegeneration, and dysosteosclerosis 0.08936407417058945 +3400 618748 Intellectual developmental disorder with hypotonia and behavioral abnormalities 0.08936121314764023 +3401 617810 Glycosylphosphatidylinositol biosynthesis defect 15 0.08935321122407913 +3402 610024 Retinal cone dystrophy 3A 0.08934305608272552 +3403 615352 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 0.08933036029338837 +3404 148800 Kleeblattschaedel syndrome 0.08931668102741241 +3405 615147 Retinal dystrophy, iris coloboma, and comedogenic acne syndrome 0.08930282294750214 +3406 243050 Indolylacroyl glycinuria with mental retardation 0.08930117636919022 +3407 616255 Short stature with nonspecific skeletal abnormalities 0.08928544819355011 +3408 164310 Oculopharyngodistal myopathy 1 0.08928516507148743 +3409 169600 Benign chronic pemphigus 0.0892733782529831 +3410 191950 Urticaria, familial localized heat 0.0892733782529831 +3411 106500 Annular erythema 0.0892733782529831 +3412 191850 Urticaria, aquagenic 0.0892733782529831 +3413 133000 Erythema palmare hereditarium 0.0892733782529831 +3414 601462 Myasthenic syndrome, congenital, 1A, slow-channel 0.08925560861825943 +3415 615616 Arrhythmogenic right ventricular dysplasia, familial, 13 0.08924578875303268 +3416 618557 Epileptic encephalopathy, early infantile, 78 0.08924062550067902 +3417 613944 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2 0.08923210948705673 +3418 608567 Sick sinus syndrome 1 0.0892162099480629 +3419 614468 Familial cold autoinflammatory syndrome 3 0.08917810022830963 +3420 611521 Immunodeficiency 35 0.08916773647069931 +3421 605115 Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy 0.08915853500366211 +3422 156250 METACHONDROMATOSIS 0.08915437757968903 +3423 615139 Facial dysmorphism, immunodeficiency, livedo, and short stature 0.08913252502679825 +3424 273740 Thoracomelic dysplasia 0.08908718824386597 +3425 301069 Chromosome Xq13 duplication syndrome 0.08907900005578995 +3426 611878 Cardiomyopathy, dilated, 1Y 0.08905748277902603 +3427 618699 Ciliary dyskinesia, primary, 43 0.08904000371694565 +3428 615561 Complement factor B deficiency 0.08903641998767853 +3429 616007 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 0.08903587609529495 +3430 614165 Paragangliomas 5 0.08902580291032791 +3431 618728 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type 0.08901059627532959 +3432 614482 Congenital cataracts, hearing loss, and neurodegeneration 0.08899608254432678 +3433 616324 Myasthenic syndrome, congenital, 4B, fast-channel 0.08899465948343277 +3434 606552 Episodic ataxia, type 4 0.08897960186004639 +3435 601344 Spinal dysplasia, Anhalt type 0.08893895894289017 +3436 236690 Hydrocephalus, normal pressure, 1 0.08891259878873825 +3437 242550 Ichthyosis, split hairs, and amino aciduria 0.0888969898223877 +3438 619911 Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 0.08888779580593109 +3439 181800 Scoliosis, idiopathic, susceptibility to, 1 0.08888576179742813 +3440 243440 Isotretinoin embryopathy-like syndrome 0.0888684019446373 +3441 618939 Treacher-Collins syndrome 4 0.08886344730854034 +3442 619975 Tumor predisposition syndrome 2 0.08886011689901352 +3443 224500 Dystonia 2, torsion, autosomal recessive 0.08885905891656876 +3444 606438 Huntington disease-like 2 0.0888010635972023 +3445 614345 Intellectual developmental disorder, autosomal recessive 24 0.08879316598176956 +3446 300582 Short stature, idiopathic familial 0.0887831524014473 +3447 613120 Brugada syndrome 7 0.08877629786729813 +3448 601187 Gurrieri syndrome 0.0887741893529892 +3449 616354 Spinocerebellar ataxia, autosomal recessive 20 0.08873920887708664 +3450 601360 Amelia, autosomal recessive 0.08870238065719604 +3451 615574 Asparagine synthetase deficiency 0.08867636322975159 +3452 179280 Radial-Renal syndrome 0.08867091685533524 +3453 613353 Mononeuropathy of the median nerve, mild 0.08866594731807709 +3454 618158 Intellectual developmental disorder with macrocephaly, seizures, and speech delay 0.08866358548402786 +3455 618477 URIDINE-CYTIDINEURIA 0.08861340582370758 +3456 258360 Onychotrichodysplasia and neutropenia 0.08859052509069443 +3457 617174 Ehlers-Danlos syndrome, periodontal type, 2 0.08858896791934967 +3458 612124 Cardiomyopathy, familial hypertrophic, 12 0.08858060836791992 +3459 618648 Immunodeficiency 65, susceptibility to viral infections 0.08855611830949783 +3460 615985 Bardet-Biedl syndrome 8 0.0885416567325592 +3461 301800 Anus, imperforate 0.08853878080844879 +3462 614669 Auriculocondylar syndrome 2 0.0885312408208847 +3463 176500 Cerebral amyloid angiopathy, itm2b-related, 1 0.08853055536746979 +3464 619125 Kaya-Barakat-Masson syndrome 0.08852937817573547 +3465 266280 RAPADILINO syndrome 0.08849290013313293 +3466 618323 Myasthenic syndrome, congenital, 25, presynaptic 0.08849078416824341 +3467 611087 Polyhydramnios, megalencephaly, and symptomatic epilepsy 0.08848582208156586 +3468 613013 Neuroblastoma, susceptibility to, 2 0.08844415098428726 +3469 617450 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0.0884387418627739 +3470 608837 Carney complex variant 0.08843526244163513 +3471 613616 Hyperoxaluria, primary, type III 0.0884261503815651 +3472 265950 Pyloric atresia 0.08841558545827866 +3473 620033 Developmental and epileptic encephalopathy 107 0.08841127902269363 +3474 618853 Anauxetic dysplasia 3 0.08840998262166977 +3475 253700 Muscular dystrophy, limb-girdle, type 2C 0.08840964734554291 +3476 619941 Carey-Fineman-Ziter syndrome 2 0.0884074941277504 +3477 618093 Spinocerebellar ataxia 48 0.08837813138961792 +3478 619955 Dworschak-Punetha neurodevelopmental syndrome 0.08837299048900604 +3479 255995 Congenital myopathy 13 0.08835108578205109 +3480 609055 Ceroid lipofuscinosis, neuronal, 9 0.08834254741668701 +3481 267450 Respiratory distress syndrome in premature infants 0.08833237737417221 +3482 126950 Dwarfism with tall vertebrae 0.0883149802684784 +3483 259410 Osteogenesis imperfecta congenita, microcephaly, and cataracts 0.08831185102462769 +3484 616566 Spondylocostal dysostosis 6, autosomal recessive 0.08830749243497849 +3485 190650 Triphalangeal thumbs and dislocation of patella 0.08829846233129501 +3486 612949 Epileptic encephalopathy, early infantile, 39 0.08829061686992645 +3487 258480 Opsismodysplasia 0.08827158808708191 +3488 160980 Carney complex, type 1 0.08826509863138199 +3489 613674 Vesicoureteral reflux 3 0.08826202154159546 +3490 607155 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 0.0882561132311821 +3491 613424 Cardiomyopathy, dilated, 1R 0.08824951946735382 +3492 617993 Tumoral calcinosis, hyperphosphatemic, familial, 2 0.08824557811021805 +3493 614845 Nephronophthisis 15 0.08818849921226501 +3494 620249 Congenital myopathy 10B, mild variant 0.08817362040281296 +3495 617017 Charcot-Marie-Tooth disease, axonal, type 2T 0.08816970884799957 +3496 616580 Au-Kline syndrome 0.08816646784543991 +3497 613630 Fetal encasement syndrome 0.08816100656986237 +3498 118650 Chondrodysplasia punctata, autosomal dominantchondrodysplasia punctata due to vitamin K deficiency, included 0.0881599634885788 +3499 306990 Holoprosencephaly with fetal akinesia/hypokinesia sequence 0.0881442129611969 +3500 140900 Hemangiomas of small intestine 0.08813409507274628 +3501 618468 Epileptic encephalopathy, early infantile, 76 0.08809304982423782 +3502 219750 Cystinosis, adult nonnephropathic 0.08808466047048569 +3503 617829 Epileptic encephalopathy, infantile or early childhood, 2 0.08807037770748138 +3504 212200 CARNOSINEMIA 0.08806248009204865 +3505 616681 Microcephaly 16, primary, autosomal recessive 0.08805685490369797 +3506 243180 Visceral neuropathy, familial, autosomal recessive 0.08802951127290726 +3507 235750 Hirschsprung disease with ulnar polydactyly, polysyndactyly of bigtoes, and ventricular septal defect 0.08802589029073715 +3508 221350 Deafness, congenital, with vitiligo and achalasia 0.08801665157079697 +3509 192350 Vater associationvacterl association, included 0.08801306784152985 +3510 619040 Myofibrillar myopathy 10 0.08800358325242996 +3511 156190 Mental and growth retardation with amblyopia 0.08799708634614944 +3512 310490 Cowchock syndrome 0.08799616992473602 +3513 114580 Candidiasis, familial chronic mucocutaneous, autosomal dominant 0.08797302842140198 +3514 180800 Roussy-Levy hereditary areflexic dystasia 0.08794422447681427 +3515 613869 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related 0.08792886137962341 +3516 223400 Duodenal atresia 0.08791889995336533 +3517 609192 Loeys-Dietz syndrome 1 0.08791634440422058 +3518 616818 Iga nephropathy, susceptibility to, 3 0.08790779113769531 +3519 184255 Spondylometaphyseal dysplasia, corner Fracture type 0.0878809243440628 +3520 608988 Atrial fibrillation, familial, 2 0.08788008242845535 +3521 610913 Surfactant metabolism dysfunction, pulmonary, 2 0.08781183511018753 +3522 162000 Tubulointerstitial kidney disease, autosomal dominant, 1 0.08779418468475342 +3523 614350 Colorectal cancer, hereditary nonpolyposis, type 5 0.08777688443660736 +3524 600668 Chondrocalcinosis 1 0.08776358515024185 +3525 610140 Heart-hand syndrome, Slovenian type 0.08775146305561066 +3526 608033 Encephalopathy, acute, infection-induced, susceptibility to, 3 0.08774448186159134 +3527 611961 Stevenson-Carey syndrome 0.08772081881761551 +3528 225310 Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality 0.0876847356557846 +3529 608930 Myasthenic syndrome, congenital, 1B, fast-channel 0.08768114447593689 +3530 235730 Mowat-Wilson syndrome 0.08766338974237442 +3531 151100 Leopard syndrome 1 0.08765896409749985 +3532 208250 Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome 0.087656669318676 +3533 606612 Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 0.08764360845088959 +3534 615156 Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6 0.08763182908296585 +3535 612201 Atrial fibrillation, familial, 6 0.08762595057487488 +3536 614207 Hyperphosphatasia with mental retardation syndrome 3 0.08762496709823608 +3537 264060 Prepapillary vascular loops 0.08762146532535553 +3538 192700 Venular insufficiency, systemic 0.08760685473680496 +3539 184095 Spondyloepiphyseal dysplasia, Maroteaux type 0.08760134130716324 +3540 601808 Chromosome 18q deletion syndrome 0.08759848028421402 +3541 617561 Cohen-Gibson syndrome 0.08758960664272308 +3542 617660 Vertebral, cardiac, renal, and limb defects syndrome 1 0.08758636564016342 +3543 166400 Osteomas of mandible 0.08756540715694427 +3544 615995 Bardet-Biedl syndrome 18 0.08755098283290863 +3545 601705 T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY 0.0875503197312355 +3546 187750 Thoracic dysostosis, isolated 0.08754999190568924 +3547 619538 Cerebral cavernous malformations 4 0.08753605931997299 +3548 618847 Immunodeficiency 66 0.08753453195095062 +3549 600156 Hirschsprung disease, susceptibility to, 5 0.0875268206000328 +3550 202550 Aganglionosis, total intestinal 0.0875268206000328 +3551 271310 Spinocerebellar degeneration and corneal dystrophy 0.08749755471944809 +3552 520000 Diabetes and deafness, maternally inherited 0.08749601989984512 +3553 178350 Pubic bone dysplasia 0.08746864646673203 +3554 115400 Carpal displacement 0.08746864646673203 +3555 158100 Monophalangy of great toe 0.08746864646673203 +3556 126500 Double nail for fifth toe 0.08746864646673203 +3557 600356 Pachydermodactyly, familial 0.08746864646673203 +3558 189100 Toe, misshapen 0.08746864646673203 +3559 189000 Toe, fifth, number of phalanges in 0.08746864646673203 +3560 167600 Palmaris longus muscle, absence of 0.08746864646673203 +3561 189200 Toes, relative length of first and second 0.08746864646673203 +3562 609200 Myopathy, myofibrillar, 3 0.08745244145393372 +3563 109000 AURICULOOSTEODYSPLASIA 0.08743564039468765 +3564 274190 Thumb agenesis, short stature, and immunodeficiency 0.08742950856685638 +3565 102100 Acromegaloid changes, cutis verticis gyrata, and corneal leukoma 0.08741232752799988 +3566 251220 MICROCEPHALY-CARDIOMYOPATHY 0.08741036802530289 +3567 617272 Glaucoma 3, primary congenital, E 0.08740494400262833 +3568 133600 Exostoses of heel 0.0874042883515358 +3569 613267 Corneal dystrophy, fuchs endothelial, 3 0.08739226311445236 +3570 618845 Vertebral, cardiac, renal, and limb defects syndrome 3 0.08738714456558228 +3571 136800 Corneal dystrophy, fuchs endothelial, 1 0.08738570660352707 +3572 616896 Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) 0.087376169860363 +3573 617237 Immunodeficiency 49 0.08736244589090347 +3574 246560 Split-Hand/foot malformation 3 0.08733611553907394 +3575 611819 Long QT syndrome 10 0.08733252435922623 +3576 619521 Epilepsy, idiopathic generalized, susceptibility to, 18 0.08731164783239365 +3577 615770 Atrial fibrillation, familial, 15 0.08730443567037582 +3578 152550 Lumbar stenosis, familial 0.08730161935091019 +3579 181440 Scheuermann disease 0.08729701489210129 +3580 619468 Nephronophthisis-like nephropathy 2 0.08726809173822403 +3581 155350 MEGALENCEPHALY 0.08724036067724228 +3582 613690 Cardiomyopathy, familial hypertrophic, 7 0.08722838014364243 +3583 113301 Brachydactyly, type e, with atrial septal defect, type II 0.08722732961177826 +3584 221790 DERMATOLEUKODYSTROPHY 0.08722417801618576 +3585 617671 Helix syndrome 0.0872163400053978 +3586 613506 Agammaglobulinemia 5, autosomal dominant 0.0872076079249382 +3587 245570 Epilepsy, focal, with speech disorder and with or without mental retardation 0.08720271289348602 +3588 618458 Knobloch syndrome 2 0.08716908097267151 +3589 607326 Smith-Mccort dysplasia 1 0.08716565370559692 +3590 312000 Panhypopituitarism, X-linked 0.08716556429862976 +3591 211990 Camptomelic syndrome, Long-Limb type 0.08716095238924026 +3592 139300 Aromatase excess syndrome 0.08715368062257767 +3593 614077 Hermansky-Pudlak syndrome 8 0.08714559674263 +3594 277200 Right ventricular hypoplasia, isolated 0.08713632822036743 +3595 619909 Pontocerebellar hypoplasia, type 17 0.08712518215179443 +3596 619132 Frontotemporal dementia and/or amytrophic lateral sclerosis 8 0.08712085336446762 +3597 132990 Erythema nodosum, familial 0.08710920810699463 +3598 188800 Tibial torsion, bilateral medial 0.08710683137178421 +3599 151210 Platyspondylic lethal skeletal dysplasia, Torrance type 0.0870949849486351 +3600 222400 Diaphragmatic hernia 2 0.08708997070789337 +3601 620372 Hypersulfaturia 0.08707644045352936 +3602 603034 Myasthenic syndrome, congenital, 5 0.08705386519432068 +3603 301076 Intellectual developmental disorder, X-linked, syndromic, Pilorge type 0.08704914897680283 +3604 122580 Costocoracoid ligament, congenitally short 0.08704853057861328 +3605 618204 Immunodeficiency 15A 0.08704705536365509 +3606 618233 Mitochondrial complex I deficiency, nuclear type 10 0.08703834563493729 +3607 615502 Intellectual developmental disorder, autosomal dominant 21 0.08702796697616577 +3608 118210 Charcot-Marie-Tooth disease, axonal, type 2A1 0.0869935005903244 +3609 190600 Triphalangeal thumb, nonopposable 0.08696849644184113 +3610 250951 3-@methylglutaconic aciduria, type IV 0.08696310967206955 +3611 618342 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 0.0869450643658638 +3612 620221 Spastic paraplegia 79A, autosomal dominant 0.08693917095661163 +3613 618363 Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 0.08693104237318039 +3614 187390 Tendons, extensor, of fingers, anomalous insertion of 0.08691944181919098 +3615 192950 Vertical talus, congenital 0.0869121178984642 +3616 617268 Neurodevelopmental disorder with hypotonia, seizures, and absent language 0.08690319210290909 +3617 618906 Intellectual developmental disorder with autistic features and language delay, with or without seizures 0.08690100908279419 +3618 617108 Sessile serrated polyposis cancer syndrome 0.0868939757347107 +3619 175400 Polyposis, intestinal, scattered and discrete 0.0868939757347107 +3620 138500 Glycinuria with or without oxalate urolithiasis 0.0868755504488945 +3621 618480 Neurodevelopmental disorder with seizures and speech and walking impairment 0.08686397969722748 +3622 606719 Melanoma-Pancreatic cancer syndrome 0.08686072379350662 +3623 271620 Spondyloepiphyseal dysplasia tarda with mental retardation 0.08685354888439178 +3624 608361 Spondyloepiphyseal dysplasia, Kimberley type 0.0868111252784729 +3625 619083 Delpire-Mcneill syndrome 0.08679062128067017 +3626 606889 Alzheimer disease 4 0.08677219599485397 +3627 609727 Spastic paraplegia 29, autosomal dominant 0.0867556631565094 +3628 250220 Spondylometaphyseal dysplasia, Sedaghatian type 0.08675175905227661 +3629 619338 Cataracts, spastic paraparesis, and speech delay 0.08672622591257095 +3630 112370 Brachmann-De lange-like facial changes with microcephaly, metatarsusadductus, and developmental delay 0.08672226220369339 +3631 607677 Charcot-Marie-Tooth disease, axonal, type 2I 0.08670584112405777 +3632 272450 Syndesmodysplasic dwarfism 0.08670289069414139 +3633 615577 Immunodeficiency, common variable, 10 0.08666743338108063 +3634 608681 Spondylocostal dysostosis 2, autosomal recessive 0.0866667628288269 +3635 602541 Muscular dystrophy, congenital, megaconial type 0.08666320145130157 +3636 618006 Leukodystrophy, hypomyelinating, 17 0.08665810525417328 +3637 118600 Chondrocalcinosis 2 0.08665104955434799 +3638 236900 Hydroxylysinuria 0.08664707094430923 +3639 118800 Paroxysmal nonkinesigenic dyskinesia 1 0.08664499968290329 +3640 269630 Second metatarsal-metacarpal syndrome 0.08662396669387817 +3641 607596 Pontocerebellar hypoplasia type 1A 0.08659874647855759 +3642 607095 Anauxetic dysplasia 1 0.08659534901380539 +3643 192605 Ventricular tachycardia, familial 0.08659253269433975 +3644 616322 Myasthenic syndrome, congenital, 3B, fast-channel 0.08657611906528473 +3645 617719 Epiphyseal dysplasia, multiple, 7 0.08657097816467285 +3646 140600 Osteoarthritis of distal interphalangeal joints 0.08656815439462662 +3647 600630 UV-sensitive syndrome 1 0.0865568146109581 +3648 603387 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 0.08655670285224915 +3649 615342 Pulmonary hypertension, primary, 2 0.08654781430959702 +3650 223550 Dwarfism, proportionate, with hip dislocation 0.08652811497449875 +3651 600384 Aphalangia, partial, with syndactyly and duplication of metatarsaliv 0.08651747554540634 +3652 256730 Ceroid lipofuscinosis, neuronal, 1 0.08649959415197372 +3653 615709 Sacral agenesis with vertebral anomalies 0.08648909628391266 +3654 613731 Retinitis pigmentosa 4 0.08647564053535461 +3655 173000 Pilonidal sinus 0.08646664768457413 +3656 187770 Thoracopelvic dysostosis 0.08646343648433685 +3657 615338 Developmental and epileptic encephalopathy 16 0.08646183460950851 +3658 300322 Lesch-Nyhan syndrome 0.08645184338092804 +3659 253601 Muscular dystrophy, limb-girdle, type 2B 0.08644954115152359 +3660 609968 Hyperinsulinemic hypoglycemia, familial, 5 0.08643051981925964 +3661 615612 Developmental dysplasia of the hip 2 0.0863974541425705 +3662 190410 Trigger thumb 0.08639673888683319 +3663 120435 Lynch syndrome I 0.08639606833457947 +3664 609310 Colorectal cancer, hereditary nonpolyposis, type 2 0.08639606833457947 +3665 192900 Vertebral hypoplasia with lumbar kyphosis 0.08638421446084976 +3666 612794 Atrial septal defect 5 0.08635368198156357 +3667 614089 Atrial septal defect 3 0.08635368198156357 +3668 618798 Beck-Fahrner syndrome 0.08634355664253235 +3669 260970 Peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and 0.08633489906787872 +3670 608390 Myotonia, potassium-aggravated 0.08631479740142822 +3671 614050 Atrial fibrillation, familial, 12 0.08631400018930435 +3672 614816 Loeys-Dietz syndrome 4 0.08630917966365814 +3673 607078 Epiphyseal dysplasia, multiple, 5 0.08630555868148804 +3674 620094 Neurodevelopmental disorder with eye movement abnormalities and ataxia 0.08630511909723282 +3675 615529 Craniosynostosis 5, susceptibility to 0.0863044336438179 +3676 223370 Dubowitz syndrome 0.08630164712667465 +3677 277170 Orofaciodigital syndrome VI 0.0862908810377121 +3678 618970 Cone-rod synaptic disorder syndrome, congenital nonprogressive 0.08627907931804657 +3679 615220 Osteogenesis imperfecta, type XV 0.08626800775527954 +3680 189230 Toes, space between first and second 0.08624593913555145 +3681 100700 Achard syndrome 0.08624489605426788 +3682 101800 Acrodysostosis 1, with or without hormone resistance 0.08622756600379944 +3683 109050 Auralcephalosyndactyly 0.0862065777182579 +3684 605039 Bohring-Opitz syndrome 0.08620177954435349 +3685 260470 Panencephalitis, subacute sclerosing 0.08619428426027298 +3686 301107 Intellectual developmental disorder, X-linked 111 0.08619420230388641 +3687 607487 Cardiomyopathy, familial hypertrophic, 25 0.08619272708892822 +3688 276300 Mismatch repair cancer syndrome 1 0.08617980778217316 +3689 609470 Left ventricular noncompaction 2 0.08617209643125534 +3690 615983 Bardet-Biedl syndrome 5 0.0861436128616333 +3691 150260 Laryngeal abductor paralysis 0.08612313121557236 +3692 614018 Epilepsy, progressive myoclonic, 6 0.08611757308244705 +3693 618198 Myasthenic syndrome, congenital, 24, presynaptic 0.08607535809278488 +3694 611307 Muscular dystrophy, limb-girdle, type 2L 0.08605445176362991 +3695 168900 Patella, chondromalacia of 0.0860273540019989 +3696 251240 Microcephaly with chemotactic defect and transient hypogammaglobulinemia 0.08602584898471832 +3697 617519 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 0.08602110296487808 +3698 618129 Muscular dystrophy, limb-girdle, autosomal dominant 4 0.08600641041994095 +3699 117550 Sotos syndrome 0.08592299371957779 +3700 620080 Neuronopathy, distal hereditary motor, type X 0.08590897917747498 +3701 174600 Polydactyly, preaxial III 0.08588366955518723 +3702 273395 Tetraamelia, autosomal recessive 0.08586854487657547 +3703 614878 Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated 0.08586006611585617 +3704 200450 Achalasia-Microcephaly syndrome 0.08583590388298035 +3705 610644 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal 0.08582845330238342 +3706 212130 Cardiomyopathy associated with myopathy and sudden death 0.08582636713981628 +3707 617404 Muscular dystrophy, congenital, with cataracts and intellectual disability 0.08582153171300888 +3708 613628 Odontoid hypoplasia 0.08580528944730759 +3709 613982 Osteogenesis imperfecta, type VI 0.08578605204820633 +3710 156520 Metatarsus varus, type I 0.08576969802379608 +3711 611407 Cardiomyopathy, dilated, 1W 0.08576620370149612 +3712 602481 Migraine, familial hemiplegic, 2 0.08575408905744553 +3713 606798 Blepharospasm, benign essential, susceptibility to 0.08575361967086792 +3714 618577 Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 0.0857529267668724 +3715 617661 Vertebral, cardiac, renal, and limb defects syndrome 2 0.08574031293392181 +3716 222350 DIAMINOPENTANURIA 0.08572792261838913 +3717 611588 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 0.08571653068065643 +3718 182200 Sella turcica, bridged 0.08570615947246552 +3719 619545 Hypoplastic femurs and pelvis 0.08570102602243423 +3720 618138 Muscular dystrophy, limb-girdle, autosomal recessive 23 0.08569363504648209 +3721 619576 Cerebellar ataxia, brain abnormalities, and cardiac conduction defects 0.08568663895130157 +3722 618889 Liberfarb syndrome 0.08565959334373474 +3723 614385 Colorectal cancer, hereditary nonpolyposis, type 7 0.08563936501741409 +3724 614331 Colorectal cancer, hereditary nonpolyposis, type 6 0.08563936501741409 +3725 268300 Roberts-SC phocomelia syndrome 0.0856313705444336 +3726 119650 Cleidorhizomelic syndrome 0.08561602979898453 +3727 619574 Charcot-Marie-Tooth disease, axonal, type 2HH 0.08559981733560562 +3728 201710 Lipoid congenital adrenal hyperplasia 0.08559773862361908 +3729 128230 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 0.08557993173599243 +3730 123540 Cryofibrinogenemia, familial primary 0.08554297685623169 +3731 141200 Hematuria, benign familial 0.08553849160671234 +3732 604715 Orthostatic intolerance 0.08552680164575577 +3733 109900 Blepharochalasis and double lip 0.08551941066980362 +3734 600209 Exostoses, multiple, type III 0.08551157265901566 +3735 600807 Asthma, susceptibility to 0.08550336211919785 +3736 612781 Growth hormone deficiency, isolated, type IB 0.08549663424491882 +3737 275220 Tibial hemimelia 0.08548223227262497 +3738 611095 Intellectual developmental disorder, autosomal recessive 9/26 0.08548088371753693 +3739 619755 Hypogonadotropic hypogonadism 27 without anosmia 0.08546857535839081 +3740 156230 Mesomelic dwarfism of hypoplastic tibia and Radius type 0.08546636253595352 +3741 615071 Alazami syndrome 0.08546564728021622 +3742 618637 Oculopharyngeal myopathy with leukoencephalopathy 1 0.08545267581939697 +3743 617201 Periventricular nodular heterotopia 7 0.08542263507843018 +3744 255960 Myxoma, intracardiac 0.08542191237211227 +3745 617601 Intellectual developmental disorder, autosomal dominant 46 0.08541520684957504 +3746 611694 Dystonia with cerebellar atrophy 0.08539517223834991 +3747 165700 Thiemann disease 0.08537600934505463 +3748 604271 Growth hormone insensitivity, partial 0.08537079393863678 +3749 613005 Santos syndrome 0.08535905927419662 +3750 300673 Encephalopathy, neonatal severe, due to mecp2 mutations 0.08535858243703842 +3751 113500 Brachyolmia type 3 0.08535312116146088 +3752 601954 Muscular dystrophy, limb-girdle, type 2G 0.08531967550516129 +3753 168400 Parastremmatic dwarfism 0.08529889583587646 +3754 300352 Cerebral creatine deficiency syndrome 1 0.0852871835231781 +3755 603860 Medullary cystic kidney disease 2 0.08524040877819061 +3756 618725 Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 0.08521707355976105 +3757 313850 Thoracoabdominal syndrome 0.08521413803100586 +3758 242890 Immunoglobulin D level in plasma, low 0.08520057797431946 +3759 312210 Radiation sensitivity of natural killer activity 0.08520057797431946 +3760 246300 Leprosy, susceptibility to 0.08520057797431946 +3761 129150 Echo virus 11 sensitivity 0.08520057797431946 +3762 146850 Immune suppression 0.08520057797431946 +3763 103920 Allergic bronchopulmonary aspergillosis 0.08520057797431946 +3764 617730 Galloway-Mowat syndrome 4 0.08519601076841354 +3765 277470 Pontocerebellar hypoplasia, type 2A 0.08514486998319626 +3766 613791 Masp2 deficiency 0.0851169154047966 +3767 601003 Brody myopathy 0.08508852869272232 +3768 613882 Hypomagnesemia 6, renal 0.08508433401584625 +3769 615987 Bardet-Biedl syndrome 10 0.08508121222257614 +3770 617066 Muscular dystrophy, congenital, Davignon-Chauveau type 0.0850687250494957 +3771 615984 Bardet-Biedl syndrome 7 0.08506371080875397 +3772 276100 Tryptophanuria with dwarfism 0.08506091684103012 +3773 249900 Metachromatic leukodystrophy due to saposin B deficiency 0.08505184948444366 +3774 153470 Macrocephaly, benign familial 0.08503168076276779 +3775 614487 Spastic ataxia 5, autosomal recessive 0.0849945917725563 +3776 617101 Intellectual developmental disorder with persistence of fetal hemoglobin 0.08498423546552658 +3777 609438 Mental retardation, keratoconus, febrile seizures, and sinoatrialblock 0.08497654646635056 +3778 618412 Global developmental delay, progressive ataxia, and elevated glutamine 0.08497342467308044 +3779 277580 Waardenburg-Shah syndrome 0.0849490836262703 +3780 619562 Joubert syndrome 39 0.08494263887405396 +3781 181030 Salivary gland adenoma, pleomorphic 0.08493410795927048 +3782 144200 Palmoplantar keratoderma, epidermolytic 0.08491519093513489 +3783 605967 Acropectoral syndrome 0.08491437137126923 +3784 617783 Nephrotic syndrome, type 16 0.08491300046443939 +3785 300434 Stocco dos santos X-linked mental retardation syndrome 0.08490245789289474 +3786 122750 Coxa vara 0.08490145951509476 +3787 617675 Myopathy, mitochondrial, and ataxia 0.08489730209112167 +3788 615599 Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity 0.08489442616701126 +3789 105580 Anal canal carcinomacloacogenic carcinoma, included 0.08487949520349503 +3790 617137 Frontometaphyseal dysplasia 2 0.08487831056118011 +3791 615670 Schwannomatosis 2 0.08487103134393692 +3792 609223 Spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-sprangertype 0.0848679170012474 +3793 125630 Dermodistortive urticaria 0.08486147224903107 +3794 274800 Thyroid hormonogenesis, genetic defect in, 4 0.08485676348209381 +3795 246500 Leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis 0.08485663682222366 +3796 112270 Bone pain, periodic 0.08482755720615387 +3797 603592 Xanthinuria, type II 0.08482539653778076 +3798 617063 Meier-Gorlin syndrome 7 0.08481252938508987 +3799 261990 Abnormal hair, joint laxity, and developmental delay 0.08480913192033768 +3800 614475 Atrial septal defect 9 0.08480338007211685 +3801 171400 Multiple endocrine neoplasia, type IIA 0.08477999269962311 +3802 619479 Short-rib thoracic dysplasia 21 without polydactyly 0.08476055413484573 +3803 618076 Neurodevelopmental disorder with spasticity and poor growth 0.08475999534130096 +3804 602089 Hemangioma, capillary infantile 0.08474432677030563 +3805 609115 Limb-girdle muscular dystrophy, type 1G 0.08474338799715042 +3806 618924 Episodic ataxia, type 9 0.08474283665418625 +3807 607674 Cataract, congenital, with mental impairment and dentate gyrus atrophy 0.08473347127437592 +3808 617866 Short-Rib thoracic dysplasia 18 with polydactyly 0.08472602814435959 +3809 270300 Peeling skin syndrome 1 0.08472549170255661 +3810 183100 Spinocerebellar atrophy with pupillary paralysis 0.08470355719327927 +3811 246000 Leg, absence deformity of, with congenital cataract 0.08470312505960464 +3812 301220 Pigmentary disorder, reticulate, with systemic manifestations, X-linked 0.0847003161907196 +3813 139210 Myhre syndrome 0.08468733727931976 +3814 182260 Slipped femoral capital epiphyses 0.08465918898582458 +3815 145350 Hypotaurinemic retinal degeneration and cardiomyopathy 0.08464328199625015 +3816 610759 Cornelia de Lange syndrome 3 0.08463292568922043 +3817 105300 Amyotrophic dystonic paraplegia 0.08463168889284134 +3818 246570 Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome 0.08461804687976837 +3819 139393 Neuropathy, inflammatory demyelinating 0.08460822701454163 +3820 117300 Dementia, familial danish 0.08459319174289703 +3821 271109 Spinal muscular atrophy with mental retardation 0.08458549529314041 +3822 206570 Angiomatosis, diffuse corticomeningeal, of divry and van bogaert 0.08458288758993149 +3823 184100 Spondyloepiphyseal dysplasia tarda, autosomal dominant 0.08457400649785995 +3824 119900 Digital clubbing, isolated congenital 0.08456636965274811 +3825 602096 Alzheimer disease 5 0.08456441015005112 +3826 274230 Thymoma, familial 0.08455979079008102 +3827 203500 Alkaptonuria 0.08453049510717392 +3828 616059 Mirror movements 3 0.084526427090168 +3829 613229 TRICHOTILLOMANIA 0.08452539891004562 +3830 230300 GALACTORRHEA 0.08450847119092941 +3831 614378 Cranioectodermal dysplasia 4 0.08448690176010132 +3832 617799 Intellectual developmental disorder, autosomal dominant 54 0.08448343724012375 +3833 605055 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology 0.08447287976741791 +3834 105250 Amyloidosis, primary localized cutaneous, 1 0.08447287976741791 +3835 615112 Urofacial syndrome 2 0.08446972072124481 +3836 163700 Nipples, supernumerary 0.08446952700614929 +3837 615092 Left ventricular noncompaction 7 0.08445770293474197 +3838 120790 Complement component 4, partial deficiency of 0.08444415777921677 +3839 102400 ACROOSTEOLYSIS 0.08443515747785568 +3840 617143 Myasthenic syndrome, congenital, 20, presynaptic 0.08442949503660202 +3841 176800 Pronation-Supination of the forearm, impairment of 0.08440060913562775 +3842 244400 Ciliary dyskinesia, primary, 1 0.08438587188720703 +3843 117900 Cervical rib 0.08435694873332977 +3844 616924 Charcot-Marie-Tooth disease, axonal, type 2CC 0.08435580134391785 +3845 242600 IMINOGLYCINURIA 0.08433609455823898 +3846 616139 Developmental and epileptic encephalopathy 27 0.08433052897453308 +3847 610100 Giant axonal neuropathy, autosomal dominant 0.08431708812713623 +3848 619473 Oculopharyngodistal myopathy 3 0.0843115821480751 +3849 616779 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 0.0843026414513588 +3850 613876 Cardiomyopathy, familial hypertrophic, 20 0.08428557962179184 +3851 614817 Interstitial nephritis, karyomegalic 0.08427947014570236 +3852 619396 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 0.0842776671051979 +3853 207770 Aprosencephaly syndrome 0.0842723697423935 +3854 607706 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive 0.08426269143819809 +3855 607278 Osteofibrous dysplasia, susceptibility to 0.08425628393888474 +3856 609325 Epiphyseal dysplasia, multiple, with miniepiphyses 0.08424611389636993 +3857 613765 Cardiomyopathy, familial hypertrophic, 9 0.08423960953950882 +3858 604288 Cardiomyopathy, dilated, 1H 0.08423960953950882 +3859 609915 Cardiomyopathy, dilated, 1Q 0.08423960953950882 +3860 615919 Ataxia-telangiectasia-like disorder 2 0.08423357456922531 +3861 614728 Seckel syndrome 6 0.08422476798295975 +3862 613874 Cardiomyopathy, familial hypertrophic, 18 0.08420265465974808 +3863 180100 Retinitis pigmentosa 1 0.08419644087553024 +3864 219250 Cutis marmorata telangiectatica congenita 0.08418141305446625 +3865 308750 Kallmann syndrome with spastic paraplegia 0.08417288959026337 +3866 600155 Hirschsprung disease, susceptibility to, 2 0.08416040241718292 +3867 613712 Hirschsprung disease, susceptibility to, 4 0.08416040241718292 +3868 300706 Mental retardation, x-linked, syndromic, Turner type 0.08415867388248444 +3869 608220 Spastic paraplegia 25, autosomal recessive 0.08414667099714279 +3870 217990 Corpus callosum, agenesis of 0.08412957191467285 +3871 617157 Short stature, brachydactyly, intellectual developmental disability, and seizures 0.08412551134824753 +3872 149100 Knuckle pads 0.08410683274269104 +3873 617537 Rahman syndrome 0.0840853899717331 +3874 241310 Hypomandibular faciocranial dysostosis 0.08407647162675858 +3875 618196 Capillary malformation-arteriovenous malformation 2 0.0840529277920723 +3876 300106 Spondyloepimetaphyseal dysplasia, X-linked 0.08403756469488144 +3877 118651 Chondrodysplasia punctata, Tibia-Metacarpal type 0.08402963727712631 +3878 616669 Immunodeficiency 45 0.08402185142040253 +3879 271900 Canavan disease 0.08401892334222794 +3880 235760 Hirschsprung disease with hypoplastic nails and dysmorphic facialfeatures 0.08401069790124893 +3881 614613 Acrodysostosis 2 with or without hormone resistance 0.08397945761680603 +3882 155950 Melorheostosis, isolated 0.08397690206766129 +3883 608957 Cd8 deficiency, familial 0.08397316187620163 +3884 178000 Pterygium of conjunctiva and cornea 0.08395561575889587 +3885 301031 Congenital disorder of glycosylation, type Icc 0.0839458778500557 +3886 606159 Neurodegeneration with brain iron accumulation 3 0.08393409103155136 +3887 603373 Hyperthyroidism, familial gestational 0.08390959352254868 +3888 255710 Myotonia with skeletal abnormalities and mental retardation 0.08390899747610092 +3889 614100 Cutis laxa, neonatal, with marfanoid phenotype 0.08388546854257584 +3890 618123 Polydactyly, postaxial, type A8 0.08388327807188034 +3891 600670 Varicella, severe recurrent 0.08388176560401917 +3892 122460 Coronavirus 229E susceptibility 0.08388176560401917 +3893 137360 GENOCHONDROMATOSIS 0.08387675881385803 +3894 601809 Spondylospinal thoracic dysostosis 0.08385836333036423 +3895 618573 Hypothyroidism, congenital, nongoitrous, 7 0.08383852243423462 +3896 601780 Ceroid lipofuscinosis, neuronal, 6 0.08382628113031387 +3897 250460 Metaphyseal dysplasia without hypotrichosis 0.08380948752164841 +3898 608456 Familial adenomatous polyposis, 2 0.08380933851003647 +3899 602471 Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities 0.0838039293885231 +3900 618862 Neurodevelopmental disorder with hypotonia, microcephaly, and seizures 0.08377372473478317 +3901 277350 Vitamin A metabolic defect 0.08377289772033691 +3902 173100 Isolated growth hormone deficiency, type II 0.08377088606357574 +3903 170700 Peripheral dysostosis 0.08376342058181763 +3904 616720 Myasthenic syndrome, congenital, 19 0.0837569385766983 +3905 234280 Hallux varus and preaxial polysyndactyly 0.08375189453363419 +3906 618287 Mucocutaneous ulceration, chronic 0.08375077694654465 +3907 601596 Charcot-Marie-Tooth disease, type 4C 0.0837453082203865 +3908 618859 Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 0.0837218314409256 +3909 225290 ECTRODACTYLY-POLYDACTYLY 0.08369583636522293 +3910 618475 Paragangliomas 7 0.0836796909570694 +3911 613792 Chromosome 3pter-p25 deletion syndrome 0.08366892486810684 +3912 118005 Cervical vertebral dysplasia 0.08363717049360275 +3913 126050 Digitotalar dysmorphism 0.08363567292690277 +3914 187500 Tetralogy of Fallot 0.0836346372961998 +3915 615834 Intellectual developmental disorder, autosomal dominant 26 0.08362829685211182 +3916 180360 RHINY 0.08362388610839844 +3917 259650 Osteoma of middle ear 0.08362024277448654 +3918 615348 Nemaline myopathy 8 0.0836113840341568 +3919 609566 Parietal foramina 3 0.08360216021537781 +3920 620023 Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures 0.08355703204870224 +3921 225700 Encephalomalacia, multilocular 0.08355176448822021 +3922 313350 Split-Hand/foot malformation 2 0.0835486352443695 +3923 620359 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 0.08354580402374268 +3924 616687 Charcot-Marie-Tooth disease, axonal, type 2Y 0.08354320377111435 +3925 617107 Thauvin-Robinet-Faivre syndrome 0.08352161198854446 +3926 617239 Myasthenic syndrome, congenital, 21, presynaptic 0.08352142572402954 +3927 607432 Lissencephaly 1 0.08351753652095795 +3928 262600 Pituitary hormone deficiency, combined, 2 0.08351180702447891 +3929 112350 Weismann-Netter syndrome 0.08350443840026855 +3930 610448 Chilblain lupus 1 0.08349967002868652 +3931 614098 Keppen-Lubinsky syndrome 0.08349750190973282 +3932 160120 Episodic ataxia, type 1 0.08349401503801346 +3933 132400 Epiphyseal dysplasia, multiple, 1 0.0834868922829628 +3934 226350 Eosinophilic fasciitis 0.0834817886352539 +3935 170400 Hypokalemic periodic paralysis, type 1 0.08347959071397781 +3936 614678 Pontocerebellar hypoplasia, type 1B 0.08344946056604385 +3937 608703 Spinocerebellar ataxia 25 0.08344857394695282 +3938 130020 Ehlers-danlos syndrome, Hypermobility type 0.08344150334596634 +3939 604219 Cataract 9, multiple types 0.08340612053871155 +3940 618590 Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis 0.08340469747781754 +3941 264050 Prenatal bowing 0.08337870240211487 +3942 617596 Maleylacetoacetate isomerase deficiency 0.0833333358168602 +3943 615992 Bardet-Biedl syndrome 15 0.0833333358168602 +3944 618665 Intellectual developmental disorder, autosomal recessive 72 0.0832722932100296 +3945 263450 Polydactyly, postaxial, type A5 0.08326803147792816 +3946 601214 Naxos disease 0.08325915783643723 +3947 620448 Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting 0.083254374563694 +3948 106400 Ankylosing vertebral hyperostosis with tylosisdiffuse idiopathic skeletal hyperostosis, included 0.08324626088142395 +3949 190310 Tremor, nystagmus, and duodenal ulcer 0.08323245495557785 +3950 109100 Autoimmune disease 0.08322946727275848 +3951 617439 Craniosynostosis 7 0.08322443813085556 +3952 613477 Epileptic encephalopathy, early infantile, 5 0.08319687843322754 +3953 158345 Multiple exostoses with spastic tetraparesis 0.08319514244794846 +3954 169000 Patella, familial recurrent dislocation of 0.08318261057138443 +3955 619166 Mitochondrial complex II deficiency, nuclear type 2 0.083158478140831 +3956 612847 Brachyolmia 4 with mild epiphyseal and metaphyseal changes 0.08312972635030746 +3957 620351 Congenital myopathy 22A, classic 0.08311881870031357 +3958 160750 MYOSITIS 0.0831093117594719 +3959 614369 Peripheral neuropathy, myopathy, hoarseness, and hearing loss 0.08309978991746902 +3960 613885 Meckel syndrome, type 8 0.083098404109478 +3961 615048 Spinal muscular atrophy, Jokela type 0.08309503644704819 +3962 231060 Genitopalatocardiac syndrome 0.0830906480550766 +3963 615546 Van maldergem syndrome 2 0.08308777958154678 +3964 615937 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 0.0830865427851677 +3965 614431 Ventricular septal defect 2 0.08307112008333206 +3966 175700 Greig cephalopolysyndactyly syndrome 0.08305849134922028 +3967 614889 Immunodeficiency 28 0.08304672688245773 +3968 611228 Charcot-Marie-Tooth disease, type 4J 0.08304153382778168 +3969 228020 Fascial dystrophy, congenital 0.0830363929271698 +3970 170980 Peroneal nerve, accessory deep 0.08303171396255493 +3971 244100 Jumping frenchman of maine 0.08303171396255493 +3972 213500 Cerebral angiopathy, dysphoric 0.08303171396255493 +3973 222500 DIASTEMATOMYELIA 0.08303171396255493 +3974 126180 Discrimination, two-point, reduction in 0.08303171396255493 +3975 309840 Modifier, X-linked, for neurofunctional defects 0.08303171396255493 +3976 156220 Meralgia paraesthetica, familial 0.08303171396255493 +3977 225250 Hypothyroidism, congenital, nongoitrous, 5 0.08301139622926712 +3978 616911 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 0.08298826962709427 +3979 185600 Symphalangism of toes 0.08298084139823914 +3980 186100 Syndactyly, type III 0.08297868072986603 +3981 605289 Split-Hand/foot malformation 4 0.08295760303735733 +3982 118200 Charcot-Marie-Tooth disease, type 1B 0.08293955773115158 +3983 186200 Syndactyly, type IV 0.08293261379003525 +3984 602200 Ventriculomegaly with defects of the radius and kidney 0.08292754739522934 +3985 602085 Polydactyly, postaxial, type A2 0.08292579650878906 +3986 600987 Cleft palate, cardiac defects, and mental retardation 0.08292102813720703 +3987 617520 Microcephaly 18, primary, autosomal dominant 0.08290845155715942 +3988 613122 Cardiomyopathy, dilated, 1cc 0.08290732651948929 +3989 605375 Epilepsy, nocturnal frontal lobe, 3 0.08289262652397156 +3990 274200 Thumb, distal hyperextensibility of 0.08289144188165665 +3991 613790 Complement component 8 deficiency, type I 0.0828862339258194 +3992 256731 Ceroid lipofuscinosis, neuronal, 5 0.08288281410932541 +3993 220600 Split-Hand/foot malformation 1 with sensorineural hearing loss 0.08285514265298843 +3994 601370 Holoprosencephaly, semilobar, with craniosynostosis 0.08282479643821716 +3995 301201 Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 0.08280631899833679 +3996 104500 Amelogenesis imperfecta, type IB 0.08280631899833679 +3997 186850 Tarsal fusion 0.08280107378959656 +3998 618291 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant 0.08278805762529373 +3999 611808 Tremor, hereditary essential, and idiopathic normal pressure hydrocephalus 0.08278115838766098 +4000 617925 Short-Rib thoracic dysplasia 20 with polydactyly 0.08277110755443573 +4001 617616 Skraban-Deardorff syndrome 0.08276919275522232 +4002 610551 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 0.0827602818608284 +4003 607859 Angioma, tufted 0.08275804668664932 +4004 619951 Tessadori-van Haaften neurodevelopmental syndrome 4 0.08273503929376602 +4005 185900 Chromosome 2q35 duplication syndrome 0.08273126184940338 +4006 500002 Mitochondrial myopathy with diabetes 0.08272527903318405 +4007 617669 Encephalopathy, progressive, early-onset, with brain atrophy and spasticity 0.08271735906600952 +4008 617193 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 0.08271552622318268 +4009 300211 Episodic muscle weakness, X-linked 0.08271122723817825 +4010 148370 Keratolytic winter erythema 0.08270659297704697 +4011 609796 Peeling skin syndrome, Acral type 0.08268672227859497 +4012 227000 Erythema of acral regions 0.08267673850059509 +4013 612158 Cardiomyopathy, dilated, 1AA, with or without LVNC 0.08267513662576675 +4014 210720 Microcephalic osteodysplastic primordial dwarfism, type II 0.0826679989695549 +4015 258320 Omphalocele-Cleft palate syndrome, lethal 0.08266646414995193 +4016 612289 Fontaine progeroid syndrome 0.08266432583332062 +4017 271110 Spinal muscular atrophy with microcephaly and mental subnormality 0.08265098184347153 +4018 620393 Intellectual developmental disorder, autosomal recessive 79 0.08265089988708496 +4019 617757 Joubert syndrome 32 0.08264947682619095 +4020 613717 Treacher collins syndrome 2 0.08264920115470886 +4021 201550 Adducted thumbs syndrome 0.08264847099781036 +4022 617166 Developmental and epileptic encephalopathy 47 0.08264471590518951 +4023 208100 Arthrogryposis multiplex congenita, Neurogenic type 0.08264083415269852 +4024 123155 Craniosynostosis, sagittal, with dandy-walker malformation and hydrocephalus 0.08263767510652542 +4025 613710 Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type) 0.08263757079839706 +4026 614173 Joubert syndrome 13 0.08263376355171204 +4027 105210 Amyloidosis, hereditary, transthyretin-related 0.08260300755500793 +4028 614474 Atrioventricular septal defect 5 0.08259178698062897 +4029 145001 Hyperparathyroidism 2 0.08259079605340958 +4030 192430 Velocardiofacial syndrome 0.08259012550115585 +4031 620389 Nemaline myopathy 5C, autosomal dominant 0.0825761929154396 +4032 616364 White-Sutton syndrome 0.08257149159908295 +4033 617260 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0.0825607106089592 +4034 617125 Mental retardation, autosomal recessive 56 0.08255430310964584 +4035 611090 Mental retardation, autosomal recessive 12 0.08255430310964584 +4036 614329 Mental retardation, autosomal recessive 31 0.08255430310964584 +4037 300047 Mental retardation, X-linked 20 0.08255430310964584 +4038 190500 Triphalangeal thumb with double phalanges 0.08254913240671158 +4039 609222 Dandy-Walker malformation with occipital cephalocele, autosomal dominant 0.08252942562103271 +4040 617402 Cutis laxa, autosomal recessive, type IIC 0.0825267806649208 +4041 614416 Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies 0.08252299576997757 +4042 618653 Intellectual developmental disorder with impaired language and dysmorphic facies 0.082520492374897 +4043 300990 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0.08251326531171799 +4044 241410 Hypoparathyroidism-retardation-dysmorphism syndrome 0.08251196146011353 +4045 173700 Poikiloderma, hereditary sclerosing 0.08249519765377045 +4046 614229 Spinocerebellar ataxia, autosomal recessive 11 0.08249028027057648 +4047 600175 Neuronopathy, distal hereditary motor, type VIII 0.08248481154441833 +4048 613956 Candidiasis, familial, 6, autosomal dominant 0.08248401433229446 +4049 179300 Radioulnar synostosis 0.08247000724077225 +4050 607004 Brachydactyly, type A1, B 0.082461416721344 +4051 613382 Brachydactyly, type E2 0.0824461504817009 +4052 186575 Synovial chondromatosis, familial, with dwarfism 0.08243446797132492 +4053 312840 Schimke X-linked mental retardation syndrome 0.08241023868322372 +4054 226900 Epiphyseal dysplasia, multiple, 4 0.08240734785795212 +4055 604317 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0.08238691836595535 +4056 206920 Microphthalmia with limb anomalies 0.08236835151910782 +4057 614430 Atrioventricular septal defect 4 0.08236242830753326 +4058 608810 Myopathy, myofibrillar, 2, mfm2 0.08235806226730347 +4059 613912 Complement factor D deficiency 0.08235656470060349 +4060 300115 Mental retardation, X-linked 50 0.08235529810190201 +4061 611097 Mental retardation, autosomal recessive 11 0.08235529810190201 +4062 183500 Split-Hand and split-foot with hypodontia 0.08234869688749313 +4063 616029 Ectodermal dysplasia/short stature syndrome 0.08234022557735443 +4064 612567 Inflammatory bowel disease 25, early onset, autosomal recessive 0.08233930915594101 +4065 133690 Exostoses with anetodermia and brachydactyly, type E 0.08233346045017242 +4066 255300 Myopathy, congenital 0.08232478052377701 +4067 608931 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency 0.08232030272483826 +4068 609655 Talo-Patello-Scaphoid osteolysis, synovitis, and short fourth metacarpals 0.08230007439851761 +4069 617383 Avascular necrosis of femoral head, primary, 2 0.08229539543390274 +4070 188201 Thumbs, stiff, with brachydactyly type A1 and developmental delay 0.08228245377540588 +4071 205000 Amyotonia congenita 0.08227697014808655 +4072 185650 Symphalangism, c. s. Lewis type 0.08227678388357162 +4073 618950 Suleiman-El-Hattab syndrome 0.08226628601551056 +4074 264600 Pseudovaginal perineoscrotal hypospadias 0.08224784582853317 +4075 615033 Spastic paraplegia 54, autosomal recessive 0.08223923295736313 +4076 139600 Hairy elbows 0.08222533017396927 +4077 608768 Spinocerebellar ataxia 8 0.08222322165966034 +4078 272430 Crisponi/cold-induced sweating syndrome 1 0.08222196996212006 +4079 236130 HOMOCARNOSINOSIS 0.08222131431102753 +4080 140300 Hashimoto thyroiditis 0.08221901953220367 +4081 605274 Mesomelic dysplasia, Savarirayan type 0.08221831917762756 +4082 616118 Macular degeneration, early-onset 0.08220881223678589 +4083 160500 Myopathy, distal, 1 0.0821923092007637 +4084 212100 Cardioauditory syndrome of sanchez cascos 0.08218293637037277 +4085 258200 Oliver syndrome 0.08217868208885193 +4086 613860 Immunodeficiency due to ficolin 3 deficiency 0.08217742294073105 +4087 600460 Cleft palate, cardiac defect, genital anomalies, and ectrodactyly 0.0821666419506073 +4088 249650 Mercaptolactate-Cysteine disulfiduria 0.08215242624282837 +4089 215450 Chorea, benign familial 0.08214211463928223 +4090 143050 Humeroradial synostosis 0.08213985711336136 +4091 613076 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 0.08212294429540634 +4092 614341 Mental retardation, autosomal recessive 33 0.08211702853441238 +4093 246555 Limb defects, distal transverse, with mental retardation and spasticity 0.08211130648851395 +4094 187510 Tetramelic monodactyly 0.08210551738739014 +4095 600202 Dyslexia, susceptibility to, 2 0.08210087567567825 +4096 615966 Immunodeficiency 26 with or without neurologic abnormalities 0.08210041373968124 +4097 210350 Biemond syndrome II 0.0820809081196785 +4098 130200 Electroencephalographic peculiarity: 14 and 6 per sec. positive spikephenomenon 0.08207640796899796 +4099 130300 Electroencephalographic peculiarity: fronto-precentral beta wave groups 0.08207640796899796 +4100 608611 Ribose 5-phosphate isomerase deficiency 0.08207058161497116 +4101 615067 Ciliary dyskinesia, primary, 20 0.08206577599048615 +4102 617223 Sudden cardiac failure, alcohol-induced 0.0820644423365593 +4103 601414 Retinitis pigmentosa 18 0.08205462247133255 +4104 618419 Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 0.08205212652683258 +4105 611107 Intellectual developmental disorder, autosomal recessive 4 0.0820440798997879 +4106 152420 Lithium transport 0.08202771842479706 +4107 127600 Dyskeratosis, hereditary benign intraepithelial 0.08201832324266434 +4108 613789 Complement component 8 deficiency, type II 0.08201796561479568 +4109 608864 Orofacial cleft 6, susceptibility to 0.08199270814657211 +4110 619602 Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 0.08197329938411713 +4111 202600 Agenesis of cerebral white matter 0.08197036385536194 +4112 617435 Lopes-Maciel-Rodan syndrome 0.0819675400853157 +4113 176600 Presenile dementia, Kraepelin type 0.08196613192558289 +4114 119600 Cleidocranial dysplasia 0.08195191621780396 +4115 221750 Deafness, sensorineural, with pituitary dwarfism 0.0819501280784607 +4116 134780 Femoral-facial syndrome 0.08194469660520554 +4117 128000 DYSTELEPHALANGY 0.08194193243980408 +4118 618264 Mirror movements 4 0.08193698525428772 +4119 607731 Charcot-Marie-Tooth disease, axonal, type 2H 0.08191683143377304 +4120 190680 Triphalangeal thumbs with brachyectrodactyly 0.0819125697016716 +4121 601216 Dental anomalies and short stature 0.08190122246742249 +4122 614676 Cardiomyopathy, familial hypertrophic, 21 0.08189748972654343 +4123 191520 Upington disease 0.08189288526773453 +4124 131200 Endometriosis, susceptibility to, 1 0.08188577741384506 +4125 603546 Spondyloepimetaphyseal dysplasia with joint laxity, type 2 0.08188145607709885 +4126 300581 FG syndrome 5 0.081876739859581 +4127 106050 Angioma serpiginosum, autosomal dominant 0.08187271654605865 +4128 604370 Breast-Ovarian cancer, familial, susceptibility to, 1 0.08186449855566025 +4129 619238 Immunodeficiency 79 0.0818445011973381 +4130 616914 Marfan lipodystrophy syndrome 0.08184009790420532 +4131 613796 Mycobacterial and viral infections, susceptibility to, autosomal recessive 0.08182527124881744 +4132 270350 SKUNK N-BUTYLMERCAPTAN, INABILITY TO SMELL 0.08181295543909073 +4133 107200 Anosmia, congenital 0.08181295543909073 +4134 301700 ANOSMIA 0.08181295543909073 +4135 243450 Isovaleric acid, inability to smell 0.08181295543909073 +4136 618667 Hydrocephalus, congenital communicating, 1 0.08180464804172516 +4137 615162 Mental retardation, autosomal recessive 35 0.08179397135972977 +4138 609162 Czech dysplasia, Metatarsal type 0.08179166913032532 +4139 602535 Marshall-Smith syndrome 0.08179142326116562 +4140 138930 Grant syndrome 0.08177556842565536 +4141 104200 Alport syndrome 3, autosomal dominant 0.08177295327186584 +4142 168600 Parkinson disease, late-onset 0.08176170289516449 +4143 156232 Mesomelic dysplasia, Kantaputra type 0.08174160867929459 +4144 600057 Exstrophy of bladder 0.08173982799053192 +4145 619517 Neurodevelopmental disorder with seizures and brain abnormalities 0.0817294642329216 +4146 608728 Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type 0.08171185851097107 +4147 617731 Galloway-Mowat syndrome 5 0.08170123398303986 +4148 614163 Delayed sleep phase disorder, susceptibility to 0.08169766515493393 +4149 620015 Advance sleep phase syndrome, familial, 4 0.08169347792863846 +4150 618591 Short sleep, familial natural, 2 0.08169347792863846 +4151 137750 Glaucoma 1, open angle, A 0.08168454468250275 +4152 102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF 0.08166754990816116 +4153 609322 Rhabdoid tumor predisposition syndrome 1 0.08165192604064941 +4154 312870 Simpson-Golabi-Behmel syndrome, type 1 0.08164729923009872 +4155 615181 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11) 0.08162952959537506 +4156 113200 Brachydactyly, type D 0.08160816133022308 +4157 307200 Isolated growth hormone deficiency, type III, with agammaglobulinemia 0.08159753680229187 +4158 167870 Panic disorder 1 0.08159508556127548 +4159 619326 Intellectual developmental disorder and hypogonadotropic hypogonadism 0.08158701658248901 +4160 142690 Acne inversa, familial 0.08158013224601746 +4161 614891 Immunodeficiency 30 0.08155303448438644 +4162 618870 Skeletal dysplasia, mild, with joint laxity and advanced bone age 0.08153767883777618 +4163 604401 Arrhythmogenic right ventricular dysplasia, familial, 6 0.08151496201753616 +4164 619780 Mitochondrial DNA depletion syndrome 20 (MNGIE type) 0.08151073008775711 +4165 613390 Fanconi anemia, complementation group O 0.08150312304496765 +4166 617992 Deafness, congenital heart defects, and posterior embryotoxon 0.08149904012680054 +4167 207000 Anosmia for isobutyric acid 0.08149588853120804 +4168 129490 Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 0.0814957395195961 +4169 613457 Chromosome 14q11-q22 deletion syndrome 0.08149079233407974 +4170 190350 Trichorhinophalangeal syndrome, type I 0.08148874342441559 +4171 618219 Polydactyly, postaxial, type A9 0.08147622644901276 +4172 245800 Laurence-Moon syndrome 0.08145962655544281 +4173 619908 Neurodevelopmental disorder with language delay and seizure 0.08145485073328018 +4174 136000 Fingerprints, absence of 0.08143789321184158 +4175 176250 Posterior column ataxia 0.08143045008182526 +4176 612165 Retinitis pigmentosa 29 0.0814271792769432 +4177 134200 Facial palsy, familial recurrent peripheral 0.08140730112791061 +4178 159600 Myoclonic epilepsy, Hartung type 0.08139470964670181 +4179 617020 Epileptic encephalopathy, early infantile, 38 0.0813903734087944 +4180 188700 Tibia vara 0.08138949424028397 +4181 112700 Brachydactyly, type A3 0.08138943463563919 +4182 272150 Sugarman brachydactyly 0.08138079196214676 +4183 182815 Spastic paraplegia with neuropathy and poikiloderma 0.08137714862823486 +4184 148100 KELOIDS 0.08135116845369339 +4185 616199 Polyglucosan body myopathy 2 0.08133861422538757 +4186 601536 Athabaskan brainstem dysgenesis syndrome 0.08133836835622787 +4187 613612 Congenital disorder of glycosylation, type IIi 0.0813293308019638 +4188 617258 Myopathy, myofibrillar, 8 0.08131318539381027 +4189 601379 Hunter-Mcalpine craniosynostosis syndrome 0.08130905032157898 +4190 601198 Hypocalcemia, autosomal dominant 1 0.08130858093500137 +4191 613938 Parasomnia, Sleepwalking type 0.08129341155290604 +4192 618890 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 0.08128932118415833 +4193 618161 Joubert syndrome 35 0.08128760010004044 +4194 618804 Sandestig-Stefanova syndrome 0.0812874510884285 +4195 178200 Pterygium, antecubital 0.08128578215837479 +4196 613886 Obesity, hyperphagia, and developmental delay 0.08126556873321533 +4197 618506 Coffin-Siris syndrome 10 0.08125628530979156 +4198 309480 Mental retardation associated with psoriasis 0.08125342428684235 +4199 617092 Ciliary dyskinesia, primary, 35 0.08124901354312897 +4200 617405 Short-Rib thoracic dysplasia 17 with or without polydactyly 0.08123273402452469 +4201 618596 Epilepsy, idiopathic generalized, susceptibility to, 16 0.08121379464864731 +4202 611263 Asphyxiating thoracic dystrophy 2 0.08120955526828766 +4203 619027 Spastic paraplegia 83, autosomal recessive 0.08120952546596527 +4204 602071 Broad terminal phalanges, familial 0.08119480311870575 +4205 151900 Lipomatosis, multiple 0.08118852972984314 +4206 157950 Molar I reinclusion 0.08117859810590744 +4207 153630 MACROGLOSSIA 0.08116857707500458 +4208 604864 Osteoarthritis with mild chondrodysplasia 0.08115548640489578 +4209 175850 Porokeratosis plantaris, palmaris, et disseminata 0.08115369081497192 +4210 610455 Tumoral calcinosis, normophosphatemic, familial 0.0811498686671257 +4211 616420 Leukodystrophy, hypomyelinating, 10 0.08114973455667496 +4212 613108 Candidiasis, familial, 4 0.0811411440372467 +4213 612292 Birk-Barel mental retardation dysmorphism syndrome 0.08113670349121094 +4214 618846 Diets-Jongmans syndrome 0.08113595098257065 +4215 613068 Neurodegeneration due to cerebral folate transport deficiency 0.08112838119268417 +4216 190400 Trigeminal neuralgia 0.08108613640069962 +4217 610382 Prosopagnosia, hereditary 0.08108192682266235 +4218 615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 0.08107143640518188 +4219 165800 Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 0.08106917887926102 +4220 300705 Xp11.22 microduplication syndrome 0.08106507360935211 +4221 167400 Paroxysmal extreme pain disorder 0.0810527503490448 +4222 614160 Muscle hypertrophy 0.0810437873005867 +4223 614499 Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly 0.08103016018867493 +4224 620114 Neurodevelopmental disorder with speech impairment and with or without seizures 0.08102863281965256 +4225 137575 Gigantiform cementoma, familial 0.08101524412631989 +4226 260000 Hyperoxaluria, primary, type II 0.08101098239421844 +4227 601777 Cone-Rod dystrophy 6 0.08100470155477524 +4228 608673 Charcot-Marie-Tooth disease, axonal, type 2L 0.0810009092092514 +4229 612446 C6 deficiency 0.08099383860826492 +4230 145800 Hypertrophia musculorum vera 0.08098825812339783 +4231 276710 Tyrosinemia, type III 0.08098676055669785 +4232 615625 Spastic paraplegia 72, autosomal recessive 0.08097418397665024 +4233 617666 Fraser syndrome 2 0.08094703406095505 +4234 256030 Nemaline myopathy 2, autosomal recessive 0.0809287428855896 +4235 600674 MICROTIA-ANOTIA 0.08092549443244934 +4236 619833 Neurodevelopmental disorder with neuromuscular and skeletal abnormalities 0.08091527223587036 +4237 618832 Epilepsy, early-onset, with or without developmental delay 0.08089492470026016 +4238 122780 Coxoauricular syndrome 0.08088517934083939 +4239 615235 Cardiomyopathy, dilated, 1JJ 0.08088117092847824 +4240 268210 Rhabdomyosarcoma 1 0.08083099126815796 +4241 616583 Spondyloepiphyseal dysplasia, Stanescu type 0.08082898706197739 +4242 613156 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2 0.08082746714353561 +4243 614347 Mental retardation, autosomal recessive 28 0.0808209553360939 +4244 620104 Amelogenesis imperfecta, type IK 0.08081714808940887 +4245 615170 Wahab syndrome 0.0808061957359314 +4246 616165 Nemaline myopathy 10 0.08079682290554047 +4247 216950 Complement component c1r deficiency 0.08079462498426437 +4248 239840 Hypertrichosis, congenital anterior cervical, with peripheral sensory 0.08078772574663162 +4249 607850 Hand osteoarthritis 0.08078190684318542 +4250 170600 Normokalemic periodic paralysis 0.08077564835548401 +4251 618352 Central centrifugal cicatricial alopecia 0.08077293634414673 +4252 228520 Fibrochondrogenesis 1 0.08075619488954544 +4253 618092 Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities 0.08073178678750992 +4254 261550 Persistent mullerian duct syndrome, types I and II 0.08072895556688309 +4255 614302 Emery-Dreifuss muscular dystrophy 7, autosomal dominant 0.08071362227201462 +4256 300943 Pituitary adenoma 2, GH-secreting 0.08070384711027145 +4257 105830 Angelman syndrome 0.08069758117198944 +4258 261400 Peroneus tertius muscle, absence of 0.080694280564785 +4259 600511 Schizophrenia 3 0.08069304376840591 +4260 601438 Rhizomelic dysplasia, Patterson-Lowry type 0.08068805932998657 +4261 132090 Epilepsy, benign occipital 0.08068373799324036 +4262 137270 Gastrocutaneous syndrome 0.08067254722118378 +4263 619598 Rhizomelic dysplasia, Ain-Naz type 0.08065873384475708 +4264 602068 Leishmaniasis, tegumentary 0.0806489884853363 +4265 146500 Multiple system atrophy 1, susceptibility to 0.08064321428537369 +4266 102520 Acrorenal syndrome 0.0806351974606514 +4267 154700 Marfan syndrome 0.08063404262065887 +4268 174400 Polydactyly, preaxial I 0.0806271955370903 +4269 615807 Seckel syndrome 8 0.08060066401958466 +4270 309541 Methylmalonic acidemia and homocysteinemia, Cblx type 0.0805993527173996 +4271 601382 Charcot-Marie-Tooth disease, type 4B1 0.08058813214302063 +4272 214290 Cervical vertebrae, agenesis of 0.08055857568979263 +4273 619383 Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities 0.08055504411458969 +4274 617695 Pontocerebellar hypoplasia, type 11 0.08055280894041061 +4275 302600 Spinocerebellar ataxia, X-linked 2 0.08054470270872116 +4276 248340 3MC syndrome 3 0.08054361492395401 +4277 605373 Paragangliomas 3 0.08054181188344955 +4278 267430 Renal tubular dysgenesis 0.08054090291261673 +4279 620316 Cortical dysplasia, complex, with other brain malformations 12 0.08052582293748856 +4280 618443 Neurodevelopmental disorder with or without variable brain abnormalities 0.0805148109793663 +4281 145290 HYPERREFLEXIA 0.0805143192410469 +4282 141405 Hemifacial spasm, familial 0.08050228655338287 +4283 615945 Spinocerebellar ataxia 37 0.08049912750720978 +4284 600252 Lowry-Maclean syndrome 0.0804925262928009 +4285 619636 Acromesomelic dysplasia 4 0.08049039542675018 +4286 180849 Rubinstein-Taybi syndrome 1 0.08047397434711456 +4287 620065 Developmental delay, behavioral abnormalities, and neuropsychiatric disorders 0.08046337217092514 +4288 618959 Epileptic encephalopathy, early infantile, 88 0.0804612785577774 +4289 604827 Myoclonic epilepsy, juvenile, 2 0.08045560866594315 +4290 614344 Mental retardation, autosomal recessive 23 0.08045220375061035 +4291 616106 Psoriasis 15, pustular, susceptibility to 0.08044243603944778 +4292 118220 Charcot-Marie-Tooth disease, demyelinating, type 1A 0.08044224977493286 +4293 610797 Epiphyseal dysplasia, Baumann type 0.08041870594024658 +4294 610204 Pontocerebellar hypoplasia, type 5 0.08040685951709747 +4295 148520 Keratosis palmaris et plantaris with clinodactyly 0.08036976307630539 +4296 182800 Spastic paraplegia with associated extrapyramidal signs 0.08036083728075027 +4297 234200 Neurodegeneration with brain iron accumulation 1 0.08035164326429367 +4298 181400 Scapuloperoneal syndrome, neurogenic, Kaeser type 0.08035077899694443 +4299 142900 Holt-Oram syndrome 0.08034151047468185 +4300 619441 Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 0.08034002035856247 +4301 108200 Arthrogryposis-Like hand anomaly and sensorineural deafness 0.08032187074422836 +4302 618822 Myopathy, congenital, with respiratory insufficiency and bone fractures 0.08031822741031647 +4303 184253 Spondylometaphyseal dysplasia, Algerian type 0.08027835190296173 +4304 127700 Dyslexia, susceptibility to, 1 0.08026948571205139 +4305 617027 Hyperaldosteronism, familial, type IV 0.080248162150383 +4306 608180 Synpolydactyly 2 0.08024636656045914 +4307 100800 Achondroplasia 0.08021871000528336 +4308 241000 Hypogonadism with low-grade mental deficiency and microcephaly 0.08018973469734192 +4309 612736 Cerebral creatine deficiency syndrome 2 0.08018624037504196 +4310 613073 Metaphyseal anadysplasia 2 0.08018126338720322 +4311 618504 Intellectual developmental disorder, autosomal recessive 71 0.08016624301671982 +4312 108700 Ataxia with fasciculations 0.0801633894443512 +4313 616648 Optic atrophy 8 0.08015774190425873 +4314 602111 Spondyloepimetaphyseal dysplasia, Missouri type 0.08013882488012314 +4315 262500 Laron syndrome 0.08012603968381882 +4316 266100 Epilepsy, pyridoxine-dependent 0.08010483533143997 +4317 128290 Ear antitragus, tag at base of 0.08010389655828476 +4318 159500 Myelinated optic nerve fibers 0.08010389655828476 +4319 128500 Ear folding 0.08010389655828476 +4320 133500 Exchondrosis of pinna, posterior 0.08010389655828476 +4321 149600 Labia minora, incomplete adhesion of 0.08010389655828476 +4322 128600 Ear malformation 0.08010389655828476 +4323 314380 Unique green phenomenon 0.08010389655828476 +4324 165670 Ossified ear cartilages 0.08010389655828476 +4325 102660 Adamantinoma of long bones 0.08010389655828476 +4326 164185 Ocular cicatricial pemphigoid 0.08010389655828476 +4327 114450 Cancer, familial, with in vitro radioresistance 0.08010389655828476 +4328 168800 Parotidomegaly, hereditary bilateral 0.08008705824613571 +4329 113600 Branchial cleft anomaliesbranchial cysts, included 0.08008705824613571 +4330 617626 Fibromatosis, gingival, 5 0.08008521050214767 +4331 186600 Syringomas, multiple 0.0800820142030716 +4332 125600 Dermatosis papulosa nigra 0.0800820142030716 +4333 147540 Insect stings, hypersensitivity to 0.0800820142030716 +4334 151620 Lichen planus, familial 0.0800820142030716 +4335 114140 Callosities, hereditary painful 0.0800820142030716 +4336 125540 Dermal ridges, patternless 0.0800820142030716 +4337 120450 Comedones, familial dyskeratotic 0.0800820142030716 +4338 167950 Papillomatosis, florid, of nipple 0.0800820142030716 +4339 177350 Pseudoatrophoderma colli 0.0800820142030716 +4340 609649 Trichilemmal cyst 1 0.0800820142030716 +4341 102350 Acromial dimples 0.0800820142030716 +4342 620193 Lacrimoauriculodentodigital syndrome-3 0.08008012175559998 +4343 600757 Orofacial cleft 3 0.08007614314556122 +4344 161470 Nasal alar collapse, bilateral 0.08007614314556122 +4345 161500 Nasal groove, familial transverse 0.08007614314556122 +4346 610015 Glutamine deficiency, congenital 0.08006807416677475 +4347 151630 Lip, median nodule of upper 0.08006716519594193 +4348 613711 Hirschsprung disease, susceptibility to, 3 0.08006613701581955 +4349 121201 Epilepsy, benign neonatal, 2 0.08006519824266434 +4350 189150 Toe, rotated fifth 0.08006435632705688 +4351 190340 Trichodiscomas, familial multiple 0.08006435632705688 +4352 180600 Ringed hair 0.08006435632705688 +4353 275250 Tongue, pigmented fungiform papillae of 0.08005830645561218 +4354 608415 BRADYOPSIA 0.08005625009536743 +4355 255500 Myopia, infantile severe 0.08005330711603165 +4356 612717 Myopia 15 0.08005330711603165 +4357 178300 Ptosis, hereditary congenital 1 0.08005321770906448 +4358 617639 Deafness, autosomal recessive 107 0.08005187660455704 +4359 609946 Deafness, autosomal recessive 47 0.08005187660455704 +4360 617637 Deafness, autosomal recessive 106 0.08005187660455704 +4361 600971 Deafness, autosomal recessive 6 0.08005187660455704 +4362 614414 Deafness, autosomal recessive 96 0.08005187660455704 +4363 606282 Deafness, autosomal dominant 24 0.08005187660455704 +4364 191200 Tune deafness 0.08005187660455704 +4365 607239 Deafness, autosomal recessive 33 0.08005187660455704 +4366 615649 Deafness, autosomal dominant 54 0.08005187660455704 +4367 602459 Deafness, autosomal dominant 15 0.08005187660455704 +4368 607683 Deafness, autosomal dominant 52 0.08005187660455704 +4369 609952 Deafness, autosomal recessive 55 0.08005187660455704 +4370 601230 Dermatitis herpetiformis, familial 0.0800502598285675 +4371 263610 Polyhydramnios, chronic idiopathic 0.08004941791296005 +4372 607644 Candidiasis, familial, 3 0.08004913479089737 +4373 615134 Melanoma, cutaneous malignant, susceptibility to, 9 0.08004743605852127 +4374 614974 Focal facial dermal dysplasia 4 0.08004698157310486 +4375 182970 Spinal muscular atrophy, Facioscapulohumeral type 0.08004694432020187 +4376 617936 Butyrylcholinesterase deficiency 0.08004685491323471 +4377 130100 Elastosis perforans serpiginosa 0.08004669100046158 +4378 157400 Milia, multiple eruptive 0.08004669100046158 +4379 187000 Teeth, odd shapes oflobodontia, included 0.08004661649465561 +4380 171450 Phlebectasia of lips 0.08004661649465561 +4381 168200 Paramolar tubercle of bolk 0.08004661649465561 +4382 147251 Incisors, fused mandibular 0.08004661649465561 +4383 273000 Teeth, fused 0.08004661649465561 +4384 613887 Cataract, autosomal recessive congenital 4 0.08004570007324219 +4385 225100 Ectopia lentis 0.08004570007324219 +4386 609376 Cataract 35 0.08004570007324219 +4387 115800 Cataract, crystalline coralliform 0.08004570007324219 +4388 125530 Dermal ridges, nelson syndrome 0.08004552870988846 +4389 612644 Deafness, autosomal dominant 2B 0.08004492521286011 +4390 580000 Deafness, aminoglycoside-induced 0.08004492521286011 +4391 125000 Deafness, unilateral 0.08004492521286011 +4392 606012 Deafness, autosomal dominant 18 0.08004492521286011 +4393 613453 Deafness, autosomal recessive 91 0.08004492521286011 +4394 601412 Deafness, autosomal dominant nonsyndromic sensorineural 7 0.08004492521286011 +4395 128800 Ear without helix 0.08004474639892578 +4396 102000 Acroleukopathy, symmetric 0.08004467189311981 +4397 161530 Nasal hyperpigmentation, familial transverse 0.08004467189311981 +4398 614233 Hyperpigmentation, familial progressive, 1 0.08004467189311981 +4399 179500 Raindrop hypopigmentation 0.08004467189311981 +4400 145200 Hyperpigmentation of fuldauer and kuijpers 0.08004467189311981 +4401 614293 Hydatidiform mole, recurrent, 2 0.08004430681467056 +4402 613969 Myopia 19, autosomal dominant 0.08004219830036163 +4403 301010 Myopia 26, X-linked, female-limited 0.08004219830036163 +4404 608908 Myopia 6 0.08004219830036163 +4405 609549 Nanophthalmos 2 0.08004111051559448 +4406 238950 Hyperopia, high 0.08004070073366165 +4407 144100 Hyperhidrosis, gustatory 0.08003898710012436 +4408 605818 Deafness, autosomal recessive 27 0.08003860712051392 +4409 601544 Deafness, autosomal dominant nonsyndromic sensorineural 3 0.08003860712051392 +4410 610220 Deafness, autosomal recessive 59 0.08003860712051392 +4411 613865 Deafness, autosomal recessive 61 0.08003860712051392 +4412 609941 Deafness, autosomal recessive 51 0.08003860712051392 +4413 603010 Deafness, autosomal recessive 17 0.08003860712051392 +4414 603678 Deafness, autosomal recessive 14 0.08003860712051392 +4415 603629 Deafness, autosomal recessive 21 0.08003860712051392 +4416 603720 Deafness, autosomal recessive 16 0.08003860712051392 +4417 618787 Deafness, autosomal dominant 76 0.08003860712051392 +4418 601316 Deafness, autosomal dominant nonsyndromic sensorineural 10 0.08003860712051392 +4419 607084 Deafness, autosomal recessive 31 0.08003860712051392 +4420 618778 Deafness, autosomal dominant 75 0.08003860712051392 +4421 605583 Deafness, autosomal dominant 25 0.08003860712051392 +4422 618457 Deafness, autosomal recessive 115 0.08003860712051392 +4423 619093 Deafness, autosomal recessive 116 0.08003860712051392 +4424 618410 Deafness, autosomal recessive 113 0.08003860712051392 +4425 609706 Deafness, autosomal recessive 53 0.08003860712051392 +4426 605428 Deafness, autosomal recessive 26 0.08003860712051392 +4427 600792 Deafness, neurosensory, autosomal recessive 5 0.08003860712051392 +4428 602092 Deafness, neurosensory, autosomal recessive 18 0.08003860712051392 +4429 607841 Deafness, autosomal dominant 48 0.08003860712051392 +4430 609965 Deafness, autosomal dominant 53 0.08003860712051392 +4431 221500 Deafness, neural, congenital moderate 0.08003860712051392 +4432 606451 Deafness, autosomal dominant 30 0.08003860712051392 +4433 618481 Deafness, autosomal recessive 99 0.08003860712051392 +4434 616707 Deafness, autosomal dominant 68 0.08003860712051392 +4435 607453 Deafness, autosomal dominant 44 0.08003860712051392 +4436 601543 Deafness, autosomal dominant nonsyndromic sensorineural 12 0.08003860712051392 +4437 618456 Deafness, autosomal recessive 114 0.08003860712051392 +4438 608652 Deafness, autosomal dominant 47 0.08003860712051392 +4439 612431 Deafness, autosomal dominant 27 0.08003860712051392 +4440 616705 Deafness, autosomal recessive 97 0.08003860712051392 +4441 601868 Deafness, autosomal dominant nonsyndromic sensorineural 13 0.08003860712051392 +4442 607039 Deafness, autosomal recessive 22 0.08003860712051392 +4443 618422 Deafness, autosomal recessive 100 0.08003860712051392 +4444 618533 Deafness, autosomal dominant 37 0.08003860712051392 +4445 616357 Deafness, autosomal dominant 40 0.08003860712051392 +4446 616697 Deafness, autosomal dominant 69 0.08003860712051392 +4447 400047 DEAFNESS, Y-LINKED 2 0.08003860712051392 +4448 601885 Cataract, zonular pulverulent 3 0.08003847301006317 +4449 145680 Dystransthyretinemic euthyroidal hyperthyroxinemia 0.08003843575716019 +4450 206800 Anonychia congenita 0.08003821969032288 +4451 149300 Koilonychia, hereditary 0.0800379291176796 +4452 612353 Porokeratosis 6, disseminated superficial Actinic type 0.08003688603639603 +4453 167900 Papillomatosis, familial cutaneous 0.08003688603639603 +4454 100600 Acanthosis nigricans 0.08003688603639603 +4455 163600 Nipples inverted 0.08003675192594528 +4456 145701 Hypertrichosis universalis congenita, Ambras type 0.08003608882427216 +4457 601616 Iris pigment epithelium anomalies 0.08003585785627365 +4458 300018 Dosage-Sensitive sex reversal 0.0800352543592453 +4459 124300 Darwinian point of pinna 0.08003513514995575 +4460 128710 Ear pits, posterior helical 0.08003513514995575 +4461 100820 Achoo syndrome 0.08003482967615128 +4462 613575 Retinitis pigmentosa 55 0.08003482222557068 +4463 268025 Retinitis pigmentosa, late-adult onset 0.08003482222557068 +4464 615565 Retinitis pigmentosa 67 0.08003482222557068 +4465 129000 Earring holes, natural 0.08003433048725128 +4466 180350 Rheumatoid nodulosis 0.08003415912389755 +4467 275355 Squamous cell carcinoma, head and neck 0.08003411442041397 +4468 184500 Steatocystoma multiplex 0.08003411442041397 +4469 600165 Nanophthalmos 1 0.08003408461809158 +4470 154300 Malocclusion due to protuberant upper front teeth 0.08003385365009308 +4471 612643 Deafness, autosomal dominant 3B 0.08003385365009308 +4472 613079 Deafness, autosomal recessive 77 0.08003385365009308 +4473 608645 Deafness, autosomal dominant 31 0.08003385365009308 +4474 620320 Hematuria, benign familial, 2 0.08003370463848114 +4475 217500 Corneal dystrophy, band-shaped 0.08003349602222443 +4476 615293 Myofibromatosis, infantile 2 0.08003320544958115 +4477 145300 Hypersensitivity pneumonitis, familial 0.08003319799900055 +4478 614422 Cataract, congenital, cerulean type, 5 0.0800318717956543 +4479 616851 Cataract 45 0.0800318717956543 +4480 115700 Cataract, crystalline aculeiform 0.0800318717956543 +4481 116700 Cataract 13 with adult i phenotype 0.0800318717956543 +4482 191550 Ureter, bifid or double 0.08003177493810654 +4483 617320 Ichthyosis, congenital, autosomal recessive 12 0.08003094047307968 +4484 119550 Cleft palate-lateral synechia syndrome 0.08003072440624237 +4485 116400 Cataract, nuclear total 0.08003006130456924 +4486 601371 Cataract, age-related nuclear 0.08003006130456924 +4487 258660 Nonarteritic anterior ischemic optic neuropathy, susceptibility to 0.08002996444702148 +4488 607523 Nail disorder, nonsyndromic congenital, 8 0.08002990484237671 +4489 179850 Dowling-Degos disease 0.08002986758947372 +4490 616279 Cataract 43 0.08002983033657074 +4491 611863 Microtia - eye coloboma - imperforation of the nasolacrimal duct 0.08002946525812149 +4492 309100 Macular dystrophy, X-linked 0.0800294503569603 +4493 153890 Macular dystrophy, fenestrated Sheen type 0.0800294503569603 +4494 115650 Cataract, anterior polar, 1 0.0800289735198021 +4495 153800 Macular degeneration, age-related, 2 0.08002883940935135 +4496 129750 Ectopia pupillae 0.0800284743309021 +4497 206780 Anodontia of permanent dentition 0.08002825081348419 +4498 163000 Nevi flammei, familial multiple 0.08002772927284241 +4499 192100 Uvula, bifid 0.08002761006355286 +4500 615360 Leber congenital amaurosis 17 0.08002738654613495 +4501 619086 Deafness, autosomal dominant 79 0.08002733439207077 +4502 600994 Deafness, autosomal dominant nonsyndromic sensorineural 5 0.08002733439207077 +4503 600652 Deafness, autosomal dominant nonsyndromic sensorineural 4 0.08002733439207077 +4504 620442 Breast-ovarian cancer, familial, susceptibility to, 5 0.08002687245607376 +4505 187050 Teeth present at birth 0.08002645522356033 +4506 265200 Pulmonary bullae causing pneumothorax 0.08002636581659317 +4507 600631 Enuresis, nocturnal, 1 0.08002631366252899 +4508 600808 Enuresis, nocturnal, 2 0.08002631366252899 +4509 608265 Deafness, congenital neurosensory, autosomal recessive 39 0.08002624660730362 +4510 608264 Deafness, congenital neurosensory, autosomal recessive 40 0.08002624660730362 +4511 613392 Deafness, autosomal recessive 85 0.08002624660730362 +4512 612789 Deafness, autosomal recessive 71 0.08002624660730362 +4513 610154 Deafness, autosomal recessive 44 0.08002624660730362 +4514 612433 Deafness, autosomal recessive 45 0.08002624660730362 +4515 613685 Deafness, autosomal recessive 83 0.08002624660730362 +4516 610143 Deafness, autosomal recessive 62 0.08002624660730362 +4517 608219 Deafness, congenital neurosensory, autosomal recessive 38 0.08002624660730362 +4518 400003 Deleted in azoospermia 0.08002612739801407 +4519 600166 Hyperparathyroidism, primary, caused by water clear cell hyperplasia 0.08002608269453049 +4520 615892 Orofacial cleft 14 0.0800260528922081 +4521 620177 Hypotrichosis 15 0.08002594858407974 +4522 146520 Hypotrichosis 2 0.08002594858407974 +4523 600975 Glaucoma 3, primary infantile, B 0.08002574741840363 +4524 610444 Night blindness, congenital stationary, autosomal dominant 3 0.08002571016550064 +4525 163500 Night blindness, congenital stationary, autosomal dominant 2 0.08002571016550064 +4526 616814 Preimplantation embryonic lethality 1 0.08002568036317825 +4527 609647 Deafness, neurosensory, autosomal recessive 46 0.08002568036317825 +4528 182280 Small cell cancer of the lung 0.0800255611538887 +4529 155200 Mediosternal depigmentation line 0.08002486824989319 +4530 146800 Ichthyosis, Bullous type 0.08002452552318573 +4531 600343 Parotid salivary glands, polycystic dysgenetic disease of 0.08002441376447678 +4532 104110 Alopecia, familial focal 0.08002424240112305 +4533 119570 Cleft soft palate 0.0800238624215126 +4534 120300 Coloboma of macula 0.08002357184886932 +4535 614456 Melanoma, cutaneous malignant, susceptibility to, 8 0.08002355694770813 +4536 155601 Melanoma, cutaneous malignant, susceptibility to, 2 0.08002355694770813 +4537 151001 Lentiginosis, inherited patterned 0.08002346009016037 +4538 139650 Hairy palms and soles 0.08002346009016037 +4539 615589 Otosclerosis 10 0.0800234004855156 +4540 107600 Aplasia cutis congenita, nonsyndromic 0.08002308011054993 +4541 314550 Vesicoureteral reflux, X-linked 0.08002275228500366 +4542 155700 Melanoma, malignant familial intraocular 0.08002267777919769 +4543 155720 Melanoma, uveal 0.08002267777919769 +4544 163100 Nevus flammeus of nape of neck 0.08002264052629471 +4545 147350 Incisors, rotation of upper central 0.08002249896526337 +4546 300228 Testicular germ cell tumor 1 0.08002244681119919 +4547 191600 Ureter, cancer of 0.08002223074436188 +4548 145100 Hyperpigmentation of eyelids 0.08002140372991562 +4549 190800 TRISTICHIASIS 0.08002135902643204 +4550 178995 Pruritic urticarial papules and plaques of pregnancy 0.08002135902643204 +4551 126300 DISTICHIASIS 0.08002135902643204 +4552 185200 Striae distensae, familial 0.08002135902643204 +4553 614826 Nystagmus 7, congenital, autosomal dominant 0.08002126961946487 +4554 615429 Deafness, autosomal recessive 88 0.0800212100148201 +4555 553000 Oncocytoma 0.08002015203237534 +4556 614629 Keratoconus 7 0.08001962304115295 +4557 614628 Keratoconus 8 0.08001962304115295 +4558 614623 Keratoconus 6 0.08001962304115295 +4559 614622 Keratoconus 5 0.08001962304115295 +4560 615674 Dowling-Degos disease 3 0.08001921325922012 +4561 146450 Hypospadias 3, autosomal 0.0800185278058052 +4562 128700 Preauricular fistulae, congenital 0.08001849800348282 +4563 114030 Cafe-Au-Lait spots, multiple 0.08001840859651566 +4564 114600 Canine teeth, absence of upper permanent 0.08001817017793655 +4565 155240 Thyroid carcinoma, familial medullary 0.08001736551523209 +4566 606240 Thyroid cancer, nonmedullary, 3 0.08001736551523209 +4567 616535 Thyroid cancer, nonmedullary, 5 0.08001736551523209 +4568 617075 Nasopharyngeal carcinoma, susceptibility to, 3 0.0800161138176918 +4569 302400 Central incisors, absence of 0.08001527935266495 +4570 194090 Wilms tumor 3 0.08001448959112167 +4571 601363 Wilms tumor 4 0.08001448959112167 +4572 615554 Multiple fibroadenomas of the breast 0.08001434057950974 +4573 144110 Hyperhidrosis palmaris et plantaris 0.08001388609409332 +4574 272700 TAURODONTISM 0.08001330494880676 +4575 616400 Palmoplantar keratoderma, nonepidermolytic, focal 2 0.08001316338777542 +4576 614936 Keratoderma, palmoplantar, punctate type IB 0.08001316338777542 +4577 300147 Prostate cancer, hereditary, X-linked 1 0.08001212775707245 +4578 147330 Incisors, lower central, absence of 0.08001161366701126 +4579 166950 Teratoma, ovarian 0.0800095945596695 +4580 166970 Ovarian fibromata 0.0800093337893486 +4581 166760 Otitis media, susceptibility to 0.080006904900074 +4582 614389 Pregnancy loss, recurrent, susceptibility to, 1 0.07999999821186066 +4583 614595 Preeclampsia/eclampsia 5 0.07999999821186066 +4584 614390 Pregnancy loss, recurrent, susceptibility to, 2 0.07999999821186066 +4585 614391 Pregnancy loss, recurrent, susceptibility to, 3 0.07999999821186066 +4586 133900 Hemifacial hyperplasia 0.07999753206968307 +4587 614890 Immunodeficiency 29 0.07999329268932343 +4588 174700 Polydactyly, preaxial IV 0.07998382300138474 +4589 618974 Li-Ghorgani-Weisz-Hubshman syndrome 0.07994101196527481 +4590 191000 Trochlea of the humerus, aplasia of 0.07993287593126297 +4591 148190 Keratitis, hereditary 0.07993070036172867 +4592 619688 Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy 0.07992108166217804 +4593 225300 Split-Hand/foot malformation 6 0.07991835474967957 +4594 162350 Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant 0.07989704608917236 +4595 612863 Chromosome 6q25-q25 deletion syndrome 0.07988838851451874 +4596 249230 Megaepiphyseal dwarfism 0.0798855796456337 +4597 113300 Brachydactyly, type E 0.07988433539867401 +4598 614135 Epiphyseal dysplasia, multiple, 6 0.07988369464874268 +4599 616345 Immunodeficiency 39 0.07986393570899963 +4600 615632 Neuropathy, hereditary sensory, type IF 0.0798628032207489 +4601 219730 Ventriculomegaly with cystic kidney disease 0.0798608660697937 +4602 600117 Dysphasia, familial developmental 0.07985848933458328 +4603 616538 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 0.07985837012529373 +4604 613870 Hirschsprung disease, cardiac defects, and autonomic dysfunction 0.07985147833824158 +4605 272440 Filippi syndrome 0.07983508706092834 +4606 253590 Muscular dystrophy, adult-onset, with leukoencephalopathy 0.07980815321207047 +4607 601794 Coloboma-Obesity-Hypogenitalism-Mental retardation syndrome 0.0798010304570198 +4608 618157 Growth hormone deficiency, isolated, type IV 0.07978110015392303 +4609 174310 Polydactyly, postaxial, with progressive myopia 0.07977405190467834 +4610 258800 Oral sensibility, disturbance of 0.07975629717111588 +4611 177050 Protrusio acetabuli 0.07975253462791443 +4612 613857 Orofacial cleft 13 0.07975167036056519 +4613 311400 Paine syndrome 0.07975144684314728 +4614 614435 Hypoplastic left heart syndrome 2 0.07973738014698029 +4615 617116 Epilepsy, familial focal, with variable foci 2 0.07973631471395493 +4616 273400 Tetramelic deficiencies, ectodermal dysplasia, deformed ears, andother abnormalities 0.0797356516122818 +4617 618719 Megabladder, congenital 0.07973221689462662 +4618 272620 Tardive dyskinesia 0.07972073554992676 +4619 267740 Retinal degeneration and epilepsy 0.07970765233039856 +4620 601369 Deafness, autosomal dominant 9 0.07970113307237625 +4621 238320 Hypergonadotropic hypogonadism 0.07969646155834198 +4622 601352 Mental retardation, microcephaly, epilepsy, and coarse face 0.07967822998762131 +4623 300123 Mental retardation, X-linked, with isolated growth hormone deficiency 0.07965114712715149 +4624 614673 Microcephaly 8, primary, autosomal recessive 0.07965034246444702 +4625 171000 Peyronie disease 0.07963135093450546 +4626 615963 Vesicoureteral reflux 8 0.07961539179086685 +4627 230740 GAPO syndrome 0.07961449772119522 +4628 103300 HYPOGLOSSIA-HYPODACTYLIA 0.07960430532693863 +4629 202300 Adrenocortical carcinoma, pediatric 0.07959417253732681 +4630 612475 Chromosome 1q21.1 duplication syndrome 0.07958687096834183 +4631 208750 Ataxia, deafness, and cardiomyopathy 0.07956808805465698 +4632 191440 Ulnar hypoplasia 0.07955292612314224 +4633 181250 Scalp defects and postaxial polydactyly 0.07954912632703781 +4634 176400 Precocious puberty, central 0.07954879105091095 +4635 535000 Leber optic atrophy 0.07954247295856476 +4636 137440 Gerstmann-Straussler disease 0.07953948527574539 +4637 125490 Dentinogenesis imperfecta 1 0.07952583581209183 +4638 616140 Leukodystrophy, hypomyelinating, 9 0.07952266931533813 +4639 609944 Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features 0.07952229678630829 +4640 272800 Tay-Sachs disease 0.07952161133289337 +4641 300428 Mental retardation, X-linked 2 0.07952156662940979 +4642 613656 Migraine, with or without aura, susceptibility to, 13 0.07951361685991287 +4643 620241 Hydrocephalus, congenital, 5, susceptibility to 0.07950638979673386 +4644 603736 Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 0.07949933409690857 +4645 306700 Hemophilia A 0.07949424535036087 +4646 186550 Synostosis, carpal, with dysplastic elbow joints and brachydactyly 0.07948440313339233 +4647 617691 Spinocerebellar ataxia 44 0.0794694796204567 +4648 614782 Tremor, hereditary essential, 4 0.07946936786174774 +4649 150270 Laryngeal adductor paralysis 0.07945777475833893 +4650 608217 Epilepsy, benign neonatal, 3 0.07944556325674057 +4651 190100 Geniospasm 1 0.07942697405815125 +4652 610069 Polyposis syndrome, hereditary mixed, 2 0.07940830290317535 +4653 151000 Lentiginosis, centrofacial neurodysraphic 0.07940419018268585 +4654 619910 Intellectual developmental disorder, autosomal dominant 66 0.07940343022346497 +4655 617662 Joint laxity, short stature, and myopia 0.0793960690498352 +4656 618176 Nephrotic syndrome, type 17 0.07938303798437119 +4657 220150 Hypouricemia, renal, 1 0.07938279211521149 +4658 610422 Alopecia-Mental retardation syndrome 2 0.07938161492347717 +4659 219300 Cutis verticis gyrata and mental deficiency 0.0793815329670906 +4660 601039 Ichthyosis-Mental retardation syndrome with large keratohyalin granules in the skin 0.0793810784816742 +4661 612656 Episodic ataxia, type 6 0.0793786346912384 +4662 610102 C7 deficiency 0.07936784625053406 +4663 249710 Mesomelic limb shortening and bowing 0.07936369627714157 +4664 618961 Spondylometaphyseal dysplasia with corneal dystrophy 0.07934694737195969 +4665 619081 Deafness, autosomal dominant 78 0.07934416830539703 +4666 600274 Frontotemporal dementia 0.07934415340423584 +4667 601356 Lethal short-limb skeletal dysplasia, al Gazali type 0.07934412360191345 +4668 206500 Anencephaly 0.07931587100028992 +4669 614280 Epilepsy, juvenile myoclonic, susceptibility to, 9 0.07930387556552887 +4670 614337 Colorectal cancer, hereditary nonpolyposis, type 4 0.07929801195859909 +4671 167030 Nephrolithiasis, calcium oxalate 0.07928408682346344 +4672 270460 Sonoda syndrome 0.07928308099508286 +4673 168550 Parietal foramina with cleidocranial dysplasia 0.07928276062011719 +4674 616882 Advanced sleep phase syndrome, familial, 3 0.07927608489990234 +4675 619248 Vitreoretinopathy with phalangeal epiphyseal dysplasia 0.07927539199590683 +4676 619565 Dystonia 31 0.07927366346120834 +4677 143465 Attention deficit-hyperactivity disorder 0.07927076518535614 +4678 610921 Surfactant metabolism dysfunction, pulmonary, 3 0.079257532954216 +4679 236600 Hydrocephalus, nonsyndromic, autosomal recessive 1 0.07924017310142517 +4680 244300 Kapur-Toriello syndrome 0.0792044922709465 +4681 300215 Lissencephaly, X-linked, 2 0.07920412719249725 +4682 613080 46XY sex reversal 5 0.07919535040855408 +4683 188740 Tibia, hypoplasia or aplasia of, with polydactyly 0.07918579876422882 +4684 207740 Aplasia of extensor muscles of fingers, unilateral, with generalizedpolyneuropathy 0.07915855199098587 +4685 308600 Jaundice, familial obstructive, of infancy 0.07914908975362778 +4686 614849 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 0.07912658900022507 +4687 614832 Amelogenesis imperfecta, hypomaturation type, iia4 0.07911408692598343 +4688 105120 Amyloidosis, Finnish type 0.07909054309129715 +4689 609265 Li-Fraumeni syndrome 2 0.07908183336257935 +4690 204750 Alpha-aminoadipic and alpha-ketoadipic aciduria 0.07907424867153168 +4691 602554 Torsion dystonia with onset in infancy 0.07907375693321228 +4692 613724 Leukoencephalopathy with dystonia and motor neuropathy 0.07907166332006454 +4693 184450 Stuttering, familial persistent, 1 0.07906769216060638 +4694 277740 White forelock with malformations 0.0790601372718811 +4695 150230 Trichorhinophalangeal syndrome, type II 0.07905654609203339 +4696 613211 Amelogenesis imperfecta, hypomaturation type, iia3 0.0790480300784111 +4697 616839 Exercise intolerance, riboflavin-responsive 0.07903817296028137 +4698 187600 Thanatophoric dysplasia, type I 0.07902663201093674 +4699 125480 Major affective disorder 1 0.0790223777294159 +4700 612580 Intellectual developmental disorder, autosomal dominant 3 0.07900989800691605 +4701 228250 Femur, unilateral bifid, with monodactylous ectrodactyly 0.07900973409414291 +4702 237450 Hyperbilirubinemia, Rotor type, digenic 0.07900897413492203 +4703 264420 Fundus dystrophy, pseudoinflammatory, recessive form 0.0789974182844162 +4704 601358 Nicolaides-Baraitser syndrome 0.07899214327335358 +4705 130080 Ehlers-Danlos syndrome, periodontal type, 1 0.0789903849363327 +4706 615297 Adams-Oliver syndrome 4 0.07898297160863876 +4707 158800 Muscular dystrophy, Barnes type 0.07898125797510147 +4708 611096 Mental retardation, autosomal recessive 10 0.078961580991745 +4709 609135 Aplastic anemia 0.07895579189062119 +4710 608232 Leukemia, chronic myeloid 0.07894477248191833 +4711 608688 AICA-ribosiduria due to ATIC deficiency 0.07893256098031998 +4712 618707 Neurodevelopmental disorder with absent language and variable seizures 0.078921377658844 +4713 618863 Retinal dystrophy with leukodystrophy 0.07889560610055923 +4714 114290 Campomelic dysplasia 0.07888679206371307 +4715 103100 Adie pupil 0.07888209074735641 +4716 134300 Facial spasm 0.0788797065615654 +4717 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities 0.07887875288724899 +4718 146390 Chromosome 18p deletion syndrome 0.07887660712003708 +4719 618178 Nephrotic syndrome, type 19 0.07885434478521347 +4720 236792 L-2-hydroxyglutaric aciduria 0.07884754985570908 +4721 618179 Microcephaly 24, primary, autosomal recessive 0.07884223759174347 +4722 132100 Photoparoxysmal response 1 0.07883916795253754 +4723 183700 Split-Foot deformity with mandibulofacial dysostosis 0.07882227748632431 +4724 613206 Spastic paraplegia 44, autosomal recessive 0.07881666719913483 +4725 309950 Muscular dystrophy, hemizygous Lethal type 0.07880641520023346 +4726 177170 Pseudoachondroplasia 0.07880488783121109 +4727 609352 Epidermolysis bullosa simplex 2E, with migratory circinate erythema 0.07880250364542007 +4728 224000 Dysautonomia-Like disorder 0.07879744470119476 +4729 235000 Hemihyperplasia, isolated 0.0787930116057396 +4730 249660 Mesangial sclerosis, diffuse renal, with ocular abnormalities 0.07877881079912186 +4731 600268 Oculoectodermal syndrome 0.07877426594495773 +4732 159050 Muscular dystrophy, pseudohypertrophic, with internalized capillaries 0.07877126336097717 +4733 102200 Pituitary adenoma, growth hormone-secreting, 1 0.07876802235841751 +4734 100200 Abducens palsy 0.07876704633235931 +4735 615397 Meckel syndrome 11 0.07875676453113556 +4736 613737 Acne inversa, familial, 3 0.07873759418725967 +4737 615411 Cortical dysplasia, complex, with other brain malformations 3 0.07873684912919998 +4738 171480 Phocomelia-Ectrodactyly, ear malformation, deafness, and sinus arrhythmia 0.0787363275885582 +4739 245180 Kifafa seizure disorder 0.07873325049877167 +4740 107900 Arms, malformation of 0.07873274385929108 +4741 618608 Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 0.07871381938457489 +4742 107640 Apnea, central sleep 0.07869788259267807 +4743 607483 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 0.07869599759578705 +4744 619752 Hyper-IgE recurrent infection syndrome 4A, autosomal dominant 0.07869405299425125 +4745 112910 Brachydactyly, type A6 0.07868923246860504 +4746 611284 Dystonia, focal, task-specific 0.07868339121341705 +4747 618364 Myoclonus, familial, 2 0.07867369055747986 +4748 613618 Chromosome 17q23.1-q23.2 duplication syndrome 0.0786726251244545 +4749 254150 Musk, inability to smell 0.07867037504911423 +4750 218550 Craniosynostosis with fibular aplasia 0.07866895198822021 +4751 616938 Coffin-Siris syndrome 5 0.07866422832012177 +4752 226950 Epiphyseal dysplasia of femoral head, myopia, and deafness 0.07865960150957108 +4753 608840 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 0.07864298671483994 +4754 155755 Melanoma-Astrocytoma syndrome 0.07861422747373581 +4755 235740 Hirschsprung disease with polydactyly, renal agenesis, and deafness 0.07860364764928818 +4756 612269 Epilepsy, childhood absence, susceptibility to, 5 0.07860355824232101 +4757 612389 Pontocerebellar hypoplasia, type 2B 0.07858780026435852 +4758 183600 Split-Hand/foot malformation 1 0.07856198400259018 +4759 186750 Talonavicular coalition 0.07856035232543945 +4760 188150 Thumb deformity and alopecia 0.07850014418363571 +4761 617821 Ehlers-Danlos syndrome, arthrochalasia type, 2 0.07847920805215836 +4762 256850 Giant axonal neuropathy 1, autosomal recessive 0.07847403734922409 +4763 163400 Nievergelt syndrome 0.07845425605773926 +4764 619566 Muscular dystrophy, limb-girdle, autosomal recessive 27 0.07844995707273483 +4765 615551 Episodic pain syndrome, familial, 2 0.07844018936157227 +4766 125320 Dementia/parkinsonism with non-alzheimer amyloid plaques 0.07843104004859924 +4767 271150 Spinal muscular atrophy, type IV 0.07842863351106644 +4768 606835 Digital arthropathy-brachydactyly, familial 0.07839828729629517 +4769 619451 Cutis laxa, autosomal recessive, type IIE 0.07839673012495041 +4770 601355 Microcephaly, congenital heart disease, unilateral renal agenesis,and hyposegmented lungs 0.07838882505893707 +4771 189600 TORTICOLLIS 0.07838667184114456 +4772 620447 Megalencephalic leukoencephalopathy with subcortical cysts 3 0.0783858597278595 +4773 264090 Wiedemann-Rautenstrauch syndrome 0.07837215811014175 +4774 219600 Cystic disease of lung 0.07836280018091202 +4775 168860 Patella aplasia-hypoplasia 0.07836192101240158 +4776 186350 Syndactyly-Polydactyly-Earlobe syndrome 0.0783618837594986 +4777 619686 Spastic paraplegia 85, autosomal recessive 0.07834450155496597 +4778 611093 Intellectual developmental disorder, autosomal recessive 7 0.0783410593867302 +4779 121850 Corneal fleck dystrophy 0.07833313196897507 +4780 193240 Vocal cord paralysis and ptosis 0.07833242416381836 +4781 601200 Pleuropulmonary blastoma 0.07833182066679001 +4782 250420 Metaphyseal dysostosis, mental retardation, and conductive deafness 0.07832978665828705 +4783 613105 Choroidal dystrophy, central areolar 2 0.07832778245210648 +4784 609636 Alzheimer disease 10 0.07832153886556625 +4785 607488 Dystonia 15, myoclonic 0.0783187672495842 +4786 155000 Maxillofacial dysostosis 0.07831854373216629 +4787 148820 Waardenburg syndrome, type 3 0.07831286638975143 +4788 224800 Ectodermal dysplasia and neurosensory deafness 0.07831108570098877 +4789 218100 Cranial nerves, congenital paresis of 0.07830841839313507 +4790 620398 Glycine encephalopathy 2 0.07829858362674713 +4791 193235 Vitreoretinopathy, neovascular inflammatory 0.07828141003847122 +4792 609324 Epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia 0.07827923446893692 +4793 618074 Epilepsy, familial adult myoclonic, 6 0.07824579626321793 +4794 605130 Wiedemann-Steiner syndrome 0.07820290327072144 +4795 617118 Epilepsy, familial focal, with variable foci 3 0.07820046693086624 +4796 606640 Amyotrophic lateral sclerosis 3 0.07819296419620514 +4797 616321 Myasthenic syndrome, congenital, 3A, slow-channel 0.07818669080734253 +4798 137215 Gastric cancer, hereditary diffuse 0.07816547900438309 +4799 615032 Intellectual developmental disorder with autism and macrocephaly 0.0781528428196907 +4800 618681 Lessel-Kubisch syndrome 0.07814833521842957 +4801 218900 Crome syndrome 0.07814311981201172 +4802 226800 Epilepsy, photogenic, with spastic diplegia and mental retardation 0.07814251631498337 +4803 618314 Hypomagnesemia, seizures, and mental retardation 2 0.07813873142004013 +4804 618826 Retinitis pigmentosa 88 0.07812661677598953 +4805 613582 Retinitis pigmentosa 57 0.0781203880906105 +4806 618325 Lissencephaly 9 with complex brainstem malformation 0.0781012699007988 +4807 618877 Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 0.07809894531965256 +4808 106900 ANONYCHIA-ECTRODACTYLY 0.07809069007635117 +4809 190605 Triphalangeal thumb-polysyndactyly syndrome 0.07808958739042282 +4810 151700 Lipoma of the conjunctiva 0.07807768136262894 +4811 616394 Retinitis pigmentosa 71 0.07807084918022156 +4812 613115 Neuropathy, hereditary sensory and autonomic, type IIB 0.07806172221899033 +4813 613807 Ciliary dyskinesia, primary, 14 0.07805827260017395 +4814 255700 Myotonia congenita, autosomal recessive 0.07805793732404709 +4815 616436 Epilepsy, familial temporal lobe, 7 0.0780576765537262 +4816 615542 Testicular anomalies with or without congenital heart disease 0.07804592698812485 +4817 309545 Mental retardation, X-linked, syndromic 12 0.07803279906511307 +4818 618167 Osteochondrodysplasia, brachydactyly, and overlapping malformed digits 0.07800357043743134 +4819 617364 Congenital heart defects and ectodermal dysplasia 0.07799957692623138 +4820 601894 Glomerulopathy with fibronectin deposits 2 0.07798518240451813 +4821 300716 Mental retardation, X-linked 95 0.07797618210315704 +4822 617217 Amelogenesis imperfecta, hypomaturation type, IIA6 0.07796474546194077 +4823 617607 Amelogenesis imperfecta, type IIIB 0.07796268165111542 +4824 615031 Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay 0.07795881479978561 +4825 617323 Intellectual developmental disorder, autosomal recessive 59 0.07795632630586624 +4826 113310 Brachydactyly-Ectrodactyly with fibular aplasia or hypoplasia 0.07794882357120514 +4827 608762 Epilepsy, idiopathic generalized, susceptibility to, 3 0.07794466614723206 +4828 616459 Al-Raqad syndrome 0.07794202864170074 +4829 613925 Megalencephalic leukoencephalopathy with subcortical cysts 2A 0.07794182002544403 +4830 300799 Mental retardation, x-linked syndromic, Raymond type 0.0779324471950531 +4831 169545 Pelvic lipomatosis with crossed renal ectopia 0.07791905850172043 +4832 614895 Charcot-Marie-Tooth disease, demyelinating, type 4F 0.0779159665107727 +4833 214370 Neuropathy, hereditary motor and sensory, with deafness, mental retardation,and absent sensory large myelinated fibers 0.07791279256343842 +4834 180730 Rombo syndrome 0.07791239768266678 +4835 614208 Intellectual developmental disorder, autosomal recessive 16 0.07791122049093246 +4836 102650 Adactylia, unilateral 0.07789338380098343 +4837 611131 Retinitis pigmentosa 37 0.07789161056280136 +4838 618231 Epidermodysplasia verruciformis 2 0.07788943499326706 +4839 613652 C1q deficiency 0.07788411527872086 +4840 613028 Glioma susceptibility 2 0.07785848528146744 +4841 620183 Microcephaly 30, primary, autosomal recessive 0.0778493657708168 +4842 618360 Brain small vessel disease 3 0.07782153785228729 +4843 313420 Spondylometaphyseal dysplasia, X-linked 0.0778127983212471 +4844 613454 Rett syndrome, congenital variant 0.07781065255403519 +4845 104310 Alzheimer disease 2 0.07780588418245316 +4846 615083 Colorectal cancer, susceptibility to, 12 0.07780347019433975 +4847 600430 Chromosome 2q37 deletion syndrome 0.07779981940984726 +4848 146160 Hypomelia with mullerian duct anomalies 0.07779920101165771 +4849 104350 Amastia, bilateral, with ureteral triplication and dysmorphism 0.07779591530561447 +4850 254100 Muscular dystrophy, congenital, with rapid progression 0.07778286188840866 +4851 619797 Neurodevelopmental disorder with central hypotonia and dysmorphic facies 0.07778079807758331 +4852 618150 Saul-Wilson syndrome 0.07777953147888184 +4853 604802 Huntington disease-like 3 0.07777617871761322 +4854 206550 Angiolipomatosis, familial 0.07776951789855957 +4855 620439 Intellectual developmental disorder, autosomal dominant 72 0.07776543498039246 +4856 249240 Megalencephaly with dysmyelination 0.07775792479515076 +4857 612390 Pontocerebellar hypoplasia, type 2C 0.07775460928678513 +4858 270600 Spastic diplegia, Infantile type 0.07775310426950455 +4859 241080 Woodhouse-Sakati syndrome 0.07774434983730316 +4860 146000 Hypochondroplasia 0.07773880660533905 +4861 180870 Ruvalcaba syndrome 0.07770996540784836 +4862 310460 Myopia 1, X-linked 0.07770954817533493 +4863 619056 Neurodevelopmental disorder with speech impairment and dysmorphic facies 0.07770021259784698 +4864 132300 Epilepsy, reading 0.07769545167684555 +4865 617466 Townes-Brocks syndrome 2 0.07769374549388885 +4866 616728 Cleft palate, psychomotor retardation, and distinctive facial features 0.07768915593624115 +4867 300816 Combined oxidative phosphorylation deficiency 6 0.07768900692462921 +4868 600176 Pachygyria with mental retardation, seizures, and arachnoid cysts 0.07768694311380386 +4869 617796 Intellectual developmental disorder, autosomal dominant 52 0.07767238467931747 +4870 620056 Polycystic kidney disease 7 0.07766144722700119 +4871 615298 Symphalangism, proximal, 1B 0.07765795290470123 +4872 619099 Intellectual developmental disorder with speech delay and axonal peripheral neuropathy 0.07765056937932968 +4873 613003 Attention deficit-hyperactivity disorder, susceptibility to, 7 0.0776452124118805 +4874 172880 Pierre Robin syndrome and oligodactyly 0.07762379199266434 +4875 611364 Myoclonic epilepsy, juvenile, susceptibility to, 4 0.07762151211500168 +4876 614333 Mental retardation, autosomal recessive 29 0.07762086391448975 +4877 614860 Dystonia 23 0.07761140167713165 +4878 604348 Advanced sleep phase syndrome, familial, 1 0.07760526239871979 +4879 614608 Coffin-Siris syndrome 3 0.07758770138025284 +4880 611755 Leber congenital amaurosis 10 0.07758158445358276 +4881 610003 Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 0.07756301760673523 +4882 613094 Microphthalmia, isolated 4 0.07755830138921738 +4883 614619 Hyperekplexia 2 0.07754234969615936 +4884 600561 Spondyloepiphyseal dysplasia with atlantoaxial instability 0.07749521732330322 +4885 182960 Neuronopathy, distal hereditary motor, type I 0.07749422639608383 +4886 208850 Ataxia-Deafness-Retardation syndrome 0.07749323546886444 +4887 300495 Autism, susceptibility to, X-linked 2 0.07748489081859589 +4888 614343 Intellectual developmental disorder, autosomal recessive 19 0.07748450338840485 +4889 616910 Immunodeficiency-Centromeric instability-facial anomalies syndrome 3 0.07745611667633057 +4890 616482 Achondroplasia, severe, with developmental delay and acanthosis nigricans 0.07745286077260971 +4891 600142 Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) 0.07745199650526047 +4892 607628 Epilepsy with grand mal seizures on awakening 0.07744421064853668 +4893 616286 Lethal congenital contracture syndrome 7 0.0774197205901146 +4894 601098 Charcot-Marie-Tooth disease, demyelinating, type 1C 0.07738657295703888 +4895 618075 Epilepsy, familial adult myoclonic, 7 0.0773782879114151 +4896 158650 Muscular atrophy, malignant neurogenic 0.07734748721122742 +4897 109500 Basilar impression, primary 0.07734151929616928 +4898 270850 Spastic paresis, glaucoma, and mental retardation 0.07732854783535004 +4899 606483 Charcot-Marie-Tooth disease, dominant intermediate A 0.07731179893016815 +4900 601374 Aprosencephaly and cerebellar dysgenesis 0.07729542255401611 +4901 169610 Pemphigus vulgaris, familial 0.07729077339172363 +4902 606772 Mental retardation, obesity, mandibular prognathism, and eye and skinanomalies 0.07728050649166107 +4903 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy 0.07726818323135376 +4904 114150 CAMPTOBRACHYDACTYLY 0.07726617157459259 +4905 257800 Oculocerebral syndrome with hypopigmentation 0.07722906768321991 +4906 615982 Bardet-Biedl syndrome 4 0.0772167295217514 +4907 159800 Myoclonus, cerebellar ataxia, and deafness 0.077198825776577 +4908 614335 Arthrogryposis, distal, type 1B 0.0771929994225502 +4909 613702 Klippel-Feil syndrome 3, autosomal dominant 0.077192023396492 +4910 618388 Fetal akinesia deformation sequence 2 0.07717781513929367 +4911 142669 Hip dysplasia, Beukes type 0.07716108858585358 +4912 607174 Meningioma, familial, susceptibility to 0.0771576315164566 +4913 215520 Ciliary dyskinesia due to transposition of ciliary microtubules 0.07715240120887756 +4914 619501 Ventriculomegaly and arthrogryposis 0.07714728266000748 +4915 249700 Langer mesomelic dysplasia 0.07713664323091507 +4916 183400 Split lower lip 0.07713606208562851 +4917 114480 Breast cancer 0.0771319717168808 +4918 173600 Pneumothorax, primary spontaneous 0.0771314725279808 +4919 300852 Intellectual developmental disorder, X-linked 88 0.07713105529546738 +4920 613603 Chromosome 4q32.1-q32.2 triplication syndrome 0.07712730765342712 +4921 194071 Multiple tumor-associated chromosome region 1 0.07712005078792572 +4922 194070 Wilms tumor 1 0.07712005078792572 +4923 601583 Wilms tumor 5 0.07712005078792572 +4924 176807 Prostate cancer 0.07711778581142426 +4925 616039 Charcot-Marie-Tooth disease, recessive intermediate D 0.07711738348007202 +4926 608089 Endometrial carcinoma, somatic 0.07711657136678696 +4927 176700 Prognathism, mandibular 0.07710041105747223 +4928 186570 Tarsal-Carpal coalition syndrome 0.07709662616252899 +4929 250400 Metaphyseal chondrodysplasia, Spahr type 0.07708416134119034 +4930 147400 Incisors, shovel-shaped 0.07707777619361877 +4931 600593 Craniosynostosis, Adelaide type 0.07707176357507706 +4932 619453 Microcephaly 28, primary, autosomal recessive 0.07706058770418167 +4933 202370 Peroxisome biogenesis disorder 2B 0.0770600289106369 +4934 612591 Colorectal cancer, susceptibility to, 10 0.07703634351491928 +4935 267730 Reticulum cell sarcoma 0.07702693343162537 +4936 304730 Dermoids of cornea 0.0770266205072403 +4937 616858 Cowden syndrome 7 0.07702504098415375 +4938 305690 Genitourinary tract anomalies 0.0770229771733284 +4939 150900 LENTIGINES 0.07700597494840622 +4940 609808 Hamartoma, precalcaneal congenital fibrolipomatous 0.07700590789318085 +4941 149500 Kyrle disease 0.07700388133525848 +4942 601341 Atrophia maculosa varioliformis cutis, familial 0.07700315862894058 +4943 610297 Parkinson disease 13 0.07699859887361526 +4944 178330 Ptosis, strabismus, and ectopic pupils 0.07699544727802277 +4945 601682 Glaucoma 1, primary open angle, C 0.07699346542358398 +4946 609612 Fibrosis of extraocular muscles, congenital, with synergistic divergence 0.07699315249919891 +4947 616265 Peeling skin syndrome 3 0.07699296623468399 +4948 151640 Lip, hamartomatous 0.07699163258075714 +4949 616892 Nephrotic syndrome, type 12 0.0769905373454094 +4950 617234 Preimplantation embryonic lethality 2 0.07699020206928253 +4951 123557 Cryptotia, familial 0.07698684185743332 +4952 169550 Pelvis-Shoulder dysplasia 0.07698661088943481 +4953 612798 Question mark ears, isolated 0.07698629796504974 +4954 233800 Grouped pigmentation of the macula 0.07698036730289459 +4955 612775 Cone-Rod dystrophy 9 0.07697959989309311 +4956 154600 Marcus gunn phenomenon 0.07697907835245132 +4957 121390 Cornea guttata with anterior polar cataracts 0.07697902619838715 +4958 618555 Night blindness, congenital stationary, type 1I 0.07697857171297073 +4959 137760 Glaucoma, primary open angle 0.0769784152507782 +4960 131880 Epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase 0.07697825878858566 +4961 615654 Deafness, autosomal dominant 58 0.07697757333517075 +4962 612645 Deafness, autosomal recessive 1B 0.07697724550962448 +4963 617524 Erythrokeratodermia variabilis et progressiva 2 0.07697634398937225 +4964 616340 Deafness, autosomal dominant 67 0.07697580754756927 +4965 400043 DEAFNESS, Y-LINKED 1 0.07697580754756927 +4966 604060 Deafness, autosomal recessive 20 0.07697580754756927 +4967 608394 Deafness, autosomal dominant 43 0.07697580754756927 +4968 603098 Deafness, autosomal recessive 13 0.07697580754756927 +4969 618003 Deafness, autosomal recessive 57 0.07697580754756927 +4970 603964 Deafness, autosomal dominant 16 0.07697529345750809 +4971 613285 Deafness, autosomal recessive 25 0.07697466760873795 +4972 612096 Otosclerosis 8 0.07697433978319168 +4973 619174 Deafness, autosomal recessive 117 0.07697369158267975 +4974 148350 Keratoderma, palmoplantar, with deafness 0.07697369158267975 +4975 618434 Deafness, autosomal recessive 94 0.07697318494319916 +4976 614617 Deafness, autosomal recessive 86 0.07697296142578125 +4977 610248 Deafness, autosomal recessive 65 0.07697296142578125 +4978 620283 Deafness, autosomal dominant 88 0.07697296142578125 +4979 614899 Deafness, autosomal recessive 93 0.07697296142578125 +4980 609439 Deafness, autosomal recessive 48 0.07697241008281708 +4981 257400 Nystagmus, congenital motor, autosomal recessive 0.07697224617004395 +4982 610535 Glaucoma 1, open angle, M 0.07697213441133499 +4983 209500 Atrichia with papular lesions 0.07697205245494843 +4984 258100 Oguchi disease 1 0.07697165012359619 +4985 613411 Oguchi disease-2 0.07697165012359619 +4986 193200 Vitiligo-associated multiple autoimmune disease susceptibility 6 0.07697156816720963 +4987 615420 Myopia 22, autosomal dominant 0.07697129249572754 +4988 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1 0.07697121053934097 +4989 615040 Episodic pain syndrome, familial, 1 0.07697072625160217 +4990 609140 Corneal dystrophy, posterior polymorphous, 2 0.0769701823592186 +4991 618031 Corneal dystrophy, posterior polymorphous, 4 0.07696982473134995 +4992 300042 Alopecia, congenital 0.07696928083896637 +4993 212400 Cataract and congenital ichthyosis 0.0769689753651619 +4994 125050 Deafness with anhidrotic ectodermal dysplasia 0.0769687220454216 +4995 190330 Trichomegaly 0.07696865499019623 +4996 202355 Adrenocortical unresponsiveness to acth with postreceptor defect 0.07696841657161713 +4997 607101 Deafness, autosomal recessive 30 0.0769679918885231 +4998 217600 Corneal dystrophy, Central type 0.07696767151355743 +4999 121800 Corneal dystrophy, crystalline, of schnyder 0.07696763426065445 +5000 618432 Hydatidiform mole, recurrent, 4 0.07696724683046341 +5001 603221 Myopia-3 0.07696685194969177 +5002 603622 Deafness, autosomal dominant nonsyndromic sensorineural 17 0.07696627825498581 +5003 615974 Deafness, autosomal recessive 102 0.07696627825498581 +5004 618827 Myopia 27 0.07696624100208282 +5005 266400 Reese retinal dysplasia 0.0769660547375679 +5006 312550 Retinal dysplasia, primary 0.07696505635976791 +5007 120430 Coloboma of optic nerveoptic nerve head pits, bilateral congenital, included 0.07696498185396194 +5008 308905 Leber optic atrophy, susceptibility to 0.07696489244699478 +5009 132700 Cylindromatosis, familial 0.07696472108364105 +5010 300355 Mental retardation, X-linked 73 0.07696405053138733 +5011 615946 Myopia 24, autosomal dominant 0.07696365565061569 +5012 614167 Myopia 21, autosomal dominant 0.07696365565061569 +5013 188560 Thyroid hormone plasma membrane transport defect 0.0769626796245575 +5014 147892 Deiodinase, iodothyronine, type I 0.0769626796245575 +5015 613704 Microphthalmia, isolated 7 0.07696260511875153 +5016 610265 Deafness, autosomal recessive 67 0.07696252316236496 +5017 601202 Cataract, anterior polar, 2 0.07696214318275452 +5018 607200 Thyroid dyshormonogenesis 6 0.07696212083101273 +5019 616407 Brown syndrome 0.07696209847927094 +5020 609006 Deafness, autosomal recessive 36, with or without vestibular involvement 0.07696191221475601 +5021 606346 Deafness, autosomal dominant 22 0.07696190476417542 +5022 601869 Deafness, autosomal recessive 15 0.07696180790662766 +5023 619697 Oocyte maturation defect 12 0.07696142792701721 +5024 614714 Porokeratosis 7, multiple types 0.07696118950843811 +5025 165680 Ossicular malformations, familial 0.07696115225553513 +5026 130710 Emphysema, congenital lobar 0.07696100324392319 +5027 139000 Granulosis rubra nasi 0.07696056365966797 +5028 612642 Deafness, autosomal dominant 59 0.07696019858121872 +5029 619226 Blistering, acantholytic, of oral and laryngeal mucosa 0.07696019858121872 +5030 620238 Deafness, autosomal recessive 120 0.07696019858121872 +5031 608641 Deafness, autosomal dominant nonsyndromic sensorineural 28 0.07696019858121872 +5032 618257 Deafness, autosomal recessive 112 0.07696019858121872 +5033 614861 Deafness, autosomal recessive 98 0.07696019858121872 +5034 609533 Deafness, autosomal recessive 23 0.07696019858121872 +5035 610212 Deafness, autosomal recessive 66 0.07696019858121872 +5036 610419 Deafness, autosomal recessive 68 0.07696019858121872 +5037 101850 ACROKERATOELASTOIDOSIS 0.07696016132831573 +5038 600360 Aplasia cutis congenita of limbs, recessive 0.07695997506380081 +5039 614237 Hypotrichosis 9 0.07695984095335007 +5040 145700 Hypertrichosis universalis 0.07695966213941574 +5041 175860 Porokeratosis punctata palmaris et plantaris 0.07695920765399933 +5042 276901 Usher syndrome, type IIA 0.07695888727903366 +5043 605472 Usher syndrome, type IIC 0.07695888727903366 +5044 614170 Brittle cornea syndrome 2 0.07695874571800232 +5045 300085 Cone-Rod dystrophy, X-linked, 2 0.0769582986831665 +5046 300155 Retinitis pigmentosa 24 0.0769582986831665 +5047 271220 Spinal muscular atrophy, scapuloperoneal 0.07695797085762024 +5048 618013 Deafness, autosomal recessive 109 0.07695703953504562 +5049 619871 Corneal dystrophy, punctiform and polychromatic pre-Descemet 0.07695669680833817 +5050 106280 Ankyloglossia with or without tooth anomalies 0.07695654779672623 +5051 125900 Diastema, dental medial 0.0769563838839531 +5052 613071 Bronchiectasis with or without elevated sweat chloride 3 0.07695621997117996 +5053 308280 Impacted teeth, multiple 0.07695616036653519 +5054 601606 Trichoepithelioma, multiple familial, 1 0.0769558772444725 +5055 611451 Deafness, autosomal recessive 63 0.0769556313753128 +5056 191650 URETEROCELE 0.07695554196834564 +5057 610878 Vesicoureteral reflux 2 0.07695537060499191 +5058 613144 Choroidal dystrophy, central areolar 3 0.07695499807596207 +5059 608874 Orofacial cleft 5 0.07695460319519043 +5060 608345 Nystagmus 3, congenital, autosomal dominant 0.07695427536964417 +5061 229230 Fraser-Like syndrome 0.07695399969816208 +5062 614691 Cataract, autosomal recessive congenital 5 0.07695372402667999 +5063 144150 Hyperkeratosis lenticularis perstans 0.07695288211107254 +5064 192000 Uterine anomalies 0.07695205509662628 +5065 166800 OTOSCLEROSIS 0.07695198059082031 +5066 619009 Oocyte maturation defect 8 0.07695117592811584 +5067 614190 Pigmented nodular adrenocortical disease, primary, 3 0.07695106416940689 +5068 615591 Macular degeneration, age-related, 15, susceptibility to 0.076950803399086 +5069 150300 Larynx, congenital partial atresia of 0.07695071399211884 +5070 106600 Tooth agenesis, selective, 1 0.07695023715496063 +5071 265430 Pulmonary hypoplasia, primary 0.07695023715496063 +5072 135550 Fibromatosis, gingival, with progressive deafness 0.07695011049509048 +5073 618112 Spermatogenic failure 31 0.07695003598928452 +5074 619258 Spermatogenic failure 53 0.07695003598928452 +5075 618353 Oocyte maturation defect 6 0.07694899290800095 +5076 617214 Spermatogenic failure 17 0.07694883644580841 +5077 620500 Spermatogenic failure 87 0.07694883644580841 +5078 610153 Deafness, autosomal recessive 49 0.07694831490516663 +5079 601449 Deafness, progressive, with stapes fixation 0.07694827765226364 +5080 615841 Spermatogenic failure 13 0.07694820314645767 +5081 619643 Oocyte maturation defect 11 0.07694777101278305 +5082 600316 Deafness, neurosensory, autosomal recessive 3 0.07694777101278305 +5083 620332 Oocyte/zygote/embryo maturation arrest 18 0.07694777101278305 +5084 611022 Deafness, autosomal recessive, 24 0.07694777101278305 +5085 617712 Oocyte maturation defect 3 0.07694777101278305 +5086 620333 Oocyte/zygote/embryo maturation arrest 19 0.07694777101278305 +5087 609823 Deafness, autosomal recessive 28 0.07694726437330246 +5088 611571 Otosclerosis 4 0.07694680243730545 +5089 616724 Tooth agenesis, selective, 7 0.07694576680660248 +5090 600269 Short tarsus with absence of lower eyelashes 0.0769457295536995 +5091 138800 Goiter, multinodular 1 0.07694519311189651 +5092 606661 Melanoma, uveal, susceptibility to, 2 0.07694488018751144 +5093 606660 Uveal melanoma, susceptibility to, 1 0.07694488018751144 +5094 614149 Nail disorder, nonsyndromic congenital, 9 0.07694458216428757 +5095 600082 Prostatic hyperplasia, benign 0.07694439589977264 +5096 164800 Nail disorder, nonsyndromic congenital, 5 0.07694409787654877 +5097 120500 Commissural lip pits 0.0769435465335846 +5098 610420 Preauricular tag, isolated, autosomal dominant, 1 0.07694348692893982 +5099 127500 Dyschromatosis universalis hereditaria 0.07694155722856522 +5100 127400 Dyschromatosis symmetrica hereditaria 1 0.07694155722856522 +5101 619588 Epidermolysis bullosa simplex 2B, generalized intermediate 0.07693909108638763 +5102 600962 Palmoplantar keratoderma, nonepidermolytic 0.07693573087453842 +5103 600231 Palmoplantar keratoderma, Bothnian type 0.07693573087453842 +5104 601518 Prostate cancer, hereditary, 1 0.07693473994731903 +5105 162091 Schwannomatosis 0.07693164795637131 +5106 611630 Epilepsy, familial temporal lobe, 3 0.0769132673740387 +5107 120040 Cochleosaccular degeneration of the inner ear with progressive cataracts 0.07688838243484497 +5108 160700 Myopia 2, autosomal dominant 0.07688745111227036 +5109 616994 Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 0.0768873393535614 +5110 616890 Split-Foot malformation with mesoaxial polydactyly 0.07688107341527939 +5111 612518 Ciliary dyskinesia, primary, 10 0.07688062638044357 +5112 618498 Polydactyly, postaxial, type A10 0.07686349004507065 +5113 611634 Febrile convulsions, familial, 9 0.07685055583715439 +5114 607836 Autoimmune disease, susceptibility to, 1 0.0768480971455574 +5115 302030 Calvarial hyperostosis 0.07684334367513657 +5116 221800 Dermochondrocorneal dystrophy 0.07683855295181274 +5117 609311 Charcot-marie-tooth disease, type 4H 0.07682173699140549 +5118 248300 Meleda disease 0.07681111246347427 +5119 617433 Retinitis pigmentosa 78 0.07679978013038635 +5120 256800 Insensitivity to pain, congenital, with anhidrosis 0.07679206132888794 +5121 156700 Microcornea, glaucoma, and absent frontal sinuses 0.07678940892219543 +5122 130000 Ehlers-danlos syndrome, type I 0.0767870843410492 +5123 612943 Retinitis pigmentosa 42 0.076785147190094 +5124 207780 AREDYLD 0.07677123695611954 +5125 619957 Attention deficit-hyperactivity disorder 8 0.07676168531179428 +5126 609654 Short stature and facioauriculothoracic malformations 0.07673841714859009 +5127 619504 Chopra-Amiel-Gordon syndrome 0.07673309743404388 +5128 616188 Retinal dystrophy and obesity 0.07672648131847382 +5129 300851 Mental retardation, X-linked 92 0.0767158567905426 +5130 611907 Episodic ataxia, type 7 0.07670659571886063 +5131 130900 Amelogenesis imperfecta, type III 0.07668580114841461 +5132 607080 46XY gonadal dysgenesis with minifascicular neuropathy 0.07668570429086685 +5133 257910 Oculopalatocerebral syndrome 0.07664372026920319 +5134 614915 Lethal congenital contracture syndrome 4 0.07663295418024063 +5135 619613 Delayed puberty, self-limited 0.0766279399394989 +5136 610217 Neurodegeneration with brain iron accumulation 2B 0.07662644237279892 +5137 264110 Prolactin deficiency, isolated 0.07658682018518448 +5138 611369 Lethal congenital contracture syndrome 3 0.07658635824918747 +5139 174200 Polydactyly, postaxial, type A1 0.07657735049724579 +5140 130720 Lateral meningocele syndrome 0.07657546550035477 +5141 616080 Microcephaly 12, primary, autosomal recessive 0.07655941694974899 +5142 603896 Leukoencephalopathy with vanishing white matter 0.07653994858264923 +5143 254000 Muscular dystrophy, congenital, with infantile cataract and hypogonadism 0.07652711868286133 +5144 615343 Pulmonary hypertension, primary, 3 0.0765184685587883 +5145 607259 Spastic paraplegia 7, autosomal recessive 0.07651488482952118 +5146 617255 Lissencephaly 8 0.07650934159755707 +5147 614962 Leptin deficiency or dysfunction 0.07650086283683777 +5148 300707 STAR syndrome 0.07647592574357986 +5149 157170 Holoprosencephaly 2 0.07646982371807098 +5150 616002 Focal segmental glomerulosclerosis 7 0.07646892964839935 +5151 605285 Neuropathy, hereditary motor and sensory, Russe type 0.07645996659994125 +5152 606408 Ehlers-Danlos syndrome, classic-like 0.07645256817340851 +5153 183086 Spinocerebellar ataxia 6 0.07644995301961899 +5154 204500 Ceroid lipofuscinosis, neuronal, 2 0.0764448344707489 +5155 135300 Fibromatosis, gingival, 1 0.0764443427324295 +5156 211770 Cahmr syndrome 0.07644351571798325 +5157 165150 Ophthalmoplegia, progressive, with scrotal tongue and mental deficiency 0.07644340395927429 +5158 618975 Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies 0.07643673568964005 +5159 618709 Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0.07643302530050278 +5160 615938 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3 0.07642123848199844 +5161 614254 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0.07642005383968353 +5162 613573 Ectodermal dysplasia-syndactyly syndrome 1 0.07640928775072098 +5163 603689 Myopathy, myofibrillar, 9, with early respiratory failure 0.0764070376753807 +5164 168000 Paragangliomas 1 0.0764014944434166 +5165 307700 Hypoparathyroidism, X-linked 0.07639595121145248 +5166 617540 Pituitary adenoma 5, multiple types 0.07638487964868546 +5167 219070 Curved nail of fourth toe 0.07637123763561249 +5168 607539 Camptosynpolydactyly, complex 0.07636331021785736 +5169 146720 Ichthyosis-Cheek-Eyebrow syndrome 0.07635286450386047 +5170 106300 Spondyloarthropathy, susceptibility to, 1 0.07634640485048294 +5171 619935 Immunodeficiency 106, susceptibility to viral infections 0.07633214443922043 +5172 180104 Retinitis pigmentosa 9 0.07632790505886078 +5173 615668 Chromosome 5q12 deletion syndrome 0.07632460445165634 +5174 179250 Radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillarydiastema 0.07631684839725494 +5175 616032 Focal segmental glomerulosclerosis 8 0.07631358504295349 +5176 618177 Nephrotic syndrome, type 18 0.0763106569647789 +5177 614256 Mental retardation, autosomal dominant 10 0.07630264014005661 +5178 614418 Febrile seizures, familial, 11 0.07629219442605972 +5179 162260 Neurofibromatosis, type III, mixed central and peripheral 0.07628536224365234 +5180 208550 Asthma, nasal polyps, and aspirin intolerance 0.07626620680093765 +5181 605361 Spinocerebellar ataxia 14 0.07626279443502426 +5182 203650 Alopecia-Mental retardation syndrome 1 0.07626071572303772 +5183 613615 Senior-Loken syndrome 7 0.07625993341207504 +5184 613930 Alopecia-Mental retardation syndrome 3 0.07625729590654373 +5185 128300 Ear exostoses 0.07624705135822296 +5186 212850 Cerebellar ataxia and neurosensory deafness 0.0762324184179306 +5187 193007 Vestibulopathy, familial 0.07623227685689926 +5188 151200 Chromosome 8q22.1 duplication syndrome 0.07623021304607391 +5189 164150 Nystagmus, hereditary vertical 0.0762273296713829 +5190 610156 Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 0.07622554153203964 +5191 614346 Mental retardation, autosomal recessive 25 0.07620453089475632 +5192 616460 Intellectual developmental disorder, autosomal recessive 50 0.07619959115982056 +5193 615752 Polymicrogyria, bilateral perisylvian 0.07617922872304916 +5194 611147 Paroxysmal nonkinesigenic dyskinesia 2 0.07615213096141815 +5195 619733 Inclusion body myopathy and brain white matter abnormalities 0.07614084333181381 +5196 174500 Polydactyly, preaxial II 0.07612372934818268 +5197 270800 Spastic paraplegia 5A, autosomal recessive 0.0761084109544754 +5198 600273 Polycystic kidney disease, infantile severe, with tuberous sclerosis 0.07609997689723969 +5199 300803 Mental retardation, X-linked 97 0.07607434689998627 +5200 217200 Convulsive disorder, familial, with prenatal or early onset 0.07606545835733414 +5201 210730 Microcephalic osteodysplastic primordial dwarfism, type III 0.07604895532131195 +5202 617333 Intellectual developmental disorder with dysmorphic facies and ptosis 0.07604704052209854 +5203 609285 Nemaline myopathy 4 0.07604166120290756 +5204 204300 Ceroid lipofuscinosis, neuronal, 6B (Kufs type) 0.07604043185710907 +5205 602134 Tremor, hereditary essential, 2 0.0760374441742897 +5206 617642 Polydactyly, postaxial, type A7 0.07602154463529587 +5207 613091 Asphyxiating thoracic dystrophy 3 0.0760176032781601 +5208 619921 Dystonia 35, childhood-onset 0.07599760591983795 +5209 615490 Charcot-Marie-Tooth disease, axonal, type 2R 0.07599541544914246 +5210 613464 Retinitis pigmentosa 51 0.07599329203367233 +5211 300577 Mental retardation, X-linked 91 0.0759914442896843 +5212 156500 Metaphyseal chondrodysplasia, Schmid type 0.07596943527460098 +5213 604213 Chudley-Mccullough syndrome 0.0759502500295639 +5214 617898 Multiple synostoses syndrome 4 0.0759422779083252 +5215 608091 Joubert syndrome 2 0.07593478262424469 +5216 234810 Pulmonary venoocclusive disease 2 0.0759190246462822 +5217 618185 Periventricular nodular heterotopia 8 0.0759136825799942 +5218 615552 Episodic pain syndrome, familial, 3 0.07590891420841217 +5219 141500 Migraine, familial hemiplegic, 1 0.07588277012109756 +5220 612917 Giacheti syndrome 0.0758584663271904 +5221 604931 Cortisone reductase deficiency 1 0.075840063393116 +5222 618613 Retinitis pigmentosa 86 0.07583068311214447 +5223 609923 Retinitis pigmentosa 31 0.07582411170005798 +5224 271200 Spinal muscular atrophy, Ryukyuan type 0.07581815123558044 +5225 613830 Night blindness, congenital stationary, type 1D 0.07580788433551788 +5226 185480 Suprabulbar paresis, congenital 0.07579202204942703 +5227 617086 Encephalopathy due to defective mitochondrial and peroxisomal fission 2 0.0757899209856987 +5228 245000 Papillon-Lefevre syndrome 0.07578516006469727 +5229 620019 Arthrogryposis, distal, type 11 0.07577371597290039 +5230 613307 Deafness, autosomal recessive 79 0.07576826214790344 +5231 607842 Aural atresia, congenital 0.07575778663158417 +5232 615041 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 0.0757388323545456 +5233 610542 Myasthenic syndrome, congenital, with tubular aggregates 1 0.07573649287223816 +5234 608363 Chromosome 22q11.2 duplication syndrome 0.0757240280508995 +5235 607822 Alzheimer disease 3 0.07570794224739075 +5236 218000 Agenesis of the corpus callosum with peripheral neuropathy 0.07570509612560272 +5237 618469 Contractures, pterygia, and variable skeletal fusions syndrome 1B 0.07569806277751923 +5238 608027 Pontocerebellar hypoplasia, type 3 0.07569290697574615 +5239 609340 Spastic paraplegia 28, autosomal recessive 0.07568366825580597 +5240 113400 Brachydactyly-Nystagmus-Cerebellar ataxia 0.07568324357271194 +5241 616532 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 0.0756743773818016 +5242 209100 Atonic-Astatic syndrome of foerster 0.07567349821329117 +5243 619201 Nephrotic syndrome, type 23 0.07567134499549866 +5244 619599 Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive 0.0756559669971466 +5245 618497 Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 0.07564325630664825 +5246 249620 Ohdo syndrome 0.0756346806883812 +5247 620425 Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 0.07563067972660065 +5248 618875 Seizures, early-onset, with neurodegeneration and brain calcification 0.07562030851840973 +5249 619325 Coffin-Siris syndrome 12 0.07559297978878021 +5250 300643 Rolandic epilepsy, mental retardation, and speech dyspraxia 0.07557134330272675 +5251 254300 Myasthenia, limb-girdle, familial 0.07557117193937302 +5252 614485 Trigonocephaly 2 0.07555849850177765 +5253 607688 Parkinson disease 11 0.07555489987134933 +5254 609141 Corneal dystrophy, posterior polymorphous, 3 0.07553256303071976 +5255 600669 Epilepsy, idiopathic generalized 0.07553230226039886 +5256 616228 Myasthenic syndrome, congenital, 14 0.07553021609783173 +5257 619090 Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 0.07551153004169464 +5258 254120 Muscular hypertonia, lethal 0.07550797611474991 +5259 243605 Stromme syndrome 0.0755033865571022 +5260 618779 Coffin-Siris syndrome 11 0.07549300044775009 +5261 106210 Aniridia 0.07547110319137573 +5262 266350 Red skin pigment anomaly of new guinea 0.07546373456716537 +5263 301014 Osteogenesis imperfecta, type XIX 0.07544917613267899 +5264 618358 Cone-rod dystrophy and hearing loss 2 0.07544609159231186 +5265 618300 Ciliary dyskinesia, primary, 40 0.07544407248497009 +5266 618767 Meesmann corneal dystrophy 2 0.07544361054897308 +5267 601549 ALACRIMA 0.07543284446001053 +5268 210600 Seckel syndrome 1 0.07542260736227036 +5269 263550 Polymyoclonus, infantile 0.07542203366756439 +5270 615287 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 0.07541419565677643 +5271 173800 Poland syndrome 0.07541024684906006 +5272 604185 Facial paresis, hereditary congenital, 2 0.07540803402662277 +5273 176305 Preaxial deficiency, postaxial polydactyly, and hypospadias 0.07539339363574982 +5274 618374 Epileptic encephalopathy, early infantile, 72 0.07539082318544388 +5275 202650 Agnathia-Otocephaly complex 0.07538825273513794 +5276 615879 Tatton-Brown-Rahman syndrome 0.07538536190986633 +5277 101840 Acrokeratoderma, hereditary papulotranslucent 0.07536690682172775 +5278 165600 Orbital margin, hypoplasia of 0.07536505162715912 +5279 614296 Wolfram-Like syndrome, autosomal dominant 0.07536419481039047 +5280 617816 Glycosylphosphatidylinositol biosynthesis defect 16 0.07535888254642487 +5281 615185 Charcot-Marie-Tooth disease, dominant intermediate F 0.07535175234079361 +5282 620032 Ciliary dyskinesia, primary, 48, without situs inversus 0.07534871250391006 +5283 600257 Bor-Duane hydrocephalus contiguous gene syndrome 0.07533691078424454 +5284 606232 Phelan-Mcdermid syndrome 0.07531718909740448 +5285 184252 Spondylometaphyseal dysplasia, Kozlowski type 0.07531332224607468 +5286 612406 Dystonia 17, torsion, autosomal recessive 0.07528785616159439 +5287 178110 Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 0.07528550177812576 +5288 148840 Kleine-Levin hibernation syndrome 0.07526956498622894 +5289 616415 Familial adenomatous polyposis 3 0.07526896148920059 +5290 301040 Alpha-Thalassemia/mental retardation syndrome, X-linked 0.07526173442602158 +5291 612581 Mental retardation, autosomal dominant 4 0.07525584101676941 +5292 619903 Peripheral motor neuropathy, childhood-onset, biotin-responsive 0.07523816078901291 +5293 170390 Andersen cardiodysrhythmic periodic paralysis 0.07523760944604874 +5294 614120 Hydrolethalus syndrome 2 0.07523708045482635 +5295 620173 Tooth agenesis, selective, 10 0.07521231472492218 +5296 245552 Lambotte syndrome 0.07520417124032974 +5297 612529 Amelogenesis imperfecta, hypomaturation type, iia2 0.0751841738820076 +5298 611031 Episodic kinesigenic dyskinesia 2 0.07518012076616287 +5299 253240 Mucus inspissation of respiratory tract 0.0751718208193779 +5300 236110 Holzgreve syndrome 0.07514598965644836 +5301 257920 3MC syndrome 1 0.07513918727636337 +5302 314500 Van den bosch syndrome 0.07513829320669174 +5303 271650 Spondyloepimetaphyseal dysplasia, Irapa type 0.07513605058193207 +5304 120400 Coloboma of macula with type B brachydactyly 0.07513581961393356 +5305 618430 Developmental delay with variable intellectual impairment and behavioral abnormalities 0.07512439787387848 +5306 608358 Myopathy, myosin storage, autosomal dominant 0.07509925216436386 +5307 603204 Epilepsy, nocturnal frontal lobe, 2 0.07506866753101349 +5308 614847 Epilepsy, idiopathic generalized, susceptibility to, 12 0.07505713403224945 +5309 617008 Cerebral palsy, spastic quadriplegic, 3 0.0750562846660614 +5310 104510 Amelogenesis imperfecta, type IV 0.07504976540803909 +5311 114500 Colorectal cancer 0.07504407316446304 +5312 618113 Encephalitis/encephalopathy, mild, with reversible myelin vacuolization 0.07503582537174225 +5313 607823 Hypotrichosis-lymphedema-telangiectasia syndrome 0.07501564174890518 +5314 616739 Mental retardation, autosomal recessive 51 0.07500232011079788 +5315 162100 Amyotrophy, hereditary neuralgic 0.0749976709485054 +5316 618386 Amelogenesis imperfecta, type IIIC 0.07498668134212494 +5317 245010 Haim-Munk syndrome 0.0749804824590683 +5318 614209 Meckel syndrome, type 9 0.07496251165866852 +5319 236680 Hydrolethalus syndrome 1 0.07495133578777313 +5320 613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb 0.07494780421257019 +5321 618155 Ophthalmoplegia, external, with rib and vertebral anomalies 0.07494679093360901 +5322 117850 Cervical hypertrichosis with underlying kyphoscoliosis 0.07493704557418823 +5323 613643 Parkinson disease 5, susceptibility to 0.07492978125810623 +5324 618866 Tremor, hereditary essential, 6 0.0749279260635376 +5325 278740 Xeroderma pigmentosum, complementation group E 0.07492227852344513 +5326 137800 Glioma susceptibility 1 0.0749206393957138 +5327 613681 Chromosome 2q31.1 duplication syndrome 0.07491516321897507 +5328 615432 Specific language impairment 5 0.07491100579500198 +5329 107000 Nail disorder, nonsyndromic congenital, 6 0.07491041719913483 +5330 616632 Seizures, cortical blindness, and microcephaly syndrome 0.07488623261451721 +5331 604168 Congenital cataracts, facial dysmorphism, and neuropathy 0.0748685821890831 +5332 615476 Developmental and epileptic encephalopathy 18 0.07485475391149521 +5333 619986 Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection 0.07484061270952225 +5334 602081 Speech-language disorder-1 0.0748341903090477 +5335 127750 Dementia, lewy body 0.07483239471912384 +5336 177100 Pruritus, hereditary localized 0.07482858747243881 +5337 108760 Atresia of external auditory canal and conduction deafness 0.07481101155281067 +5338 617102 Short-Rib thoracic dysplasia 16 with or without polydactyly 0.07480704039335251 +5339 618197 Myasthenic syndrome, congenital, 23, presynaptic 0.07479941099882126 +5340 601427 Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis 0.07477430254220963 +5341 616954 You-Hoover-Fong syndrome 0.07477264106273651 +5342 618242 Mitochondrial complex I deficiency, nuclear type 21 0.07476826012134552 +5343 606943 Usher syndrome, type IG 0.07473838329315186 +5344 618351 Microcephaly 25, primary, autosomal recessive 0.07471874356269836 +5345 618384 Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate 0.07471390068531036 +5346 186300 Syndactyly, type V 0.07471053302288055 +5347 618531 Erythrokeratodermia veriabilis et progressiva 6 0.07470200955867767 +5348 608323 Charcot-Marie-Tooth disease, dominant intermediate C 0.07469498366117477 +5349 616546 Short-Rib thoracic dysplasia 14 with polydactyly 0.07468488067388535 +5350 617895 Short-Rib thoracic dysplasia 19 with or without polydactyly 0.07467986643314362 +5351 107480 Townes-Brocks syndrome 1 0.07467854768037796 +5352 212710 Cataract-Ataxia-Deafness-Retardation syndrome 0.07467798888683319 +5353 613708 Neuropathy, hereditary sensory, type ID 0.07466933131217957 +5354 618733 Neuromuscular disease and ocular or auditory anomalies with or without seizures 0.07466370612382889 +5355 617808 Coffin-siris syndrome 6 0.07465994358062744 +5356 213000 Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 0.0746585875749588 +5357 616562 Retinitis pigmentosa 74 0.07465055584907532 +5358 182940 Neural tube defects, susceptibility to 0.07462084293365479 +5359 112450 Brachydactyly, preaxial, with hallux varus and thumb abduction 0.07461924850940704 +5360 619061 Mitochondrial complex IV deficiency, nuclear type 17 0.07460740953683853 +5361 174770 Actinic prurigo 0.07456721365451813 +5362 618117 Ovarian dysgenesis 7 0.07456296682357788 +5363 617598 Mosaic variegated aneuploidy syndrome 3 0.07455889135599136 +5364 618436 Arthrogryposis, distal, type 2B3 0.07455858588218689 +5365 616859 Spasticity, childhood-onset, with hyperglycinemia 0.0745580717921257 +5366 614128 Lactate dehydrogenase B deficiency 0.07455503195524216 +5367 121070 Arthrogryposis, distal, type 2E 0.07453175634145737 +5368 186400 Synostoses, tarsal, carpal, and digital 0.07452864199876785 +5369 616248 Lethal congenital contracture syndrome 6 0.07451785355806351 +5370 106220 Aniridia and absent patella 0.07451265305280685 +5371 614879 Peroxisome biogenesis disorder 9B 0.07451021671295166 +5372 600143 Ceroid lipofuscinosis, neuronal, 8 0.07447599619626999 +5373 610227 Seborrhea-Like dermatitis with psoriasiform elements 0.07447216659784317 +5374 605074 Renal cell carcinoma, papillary, 1, familial and somatic 0.07444249093532562 +5375 202010 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 0.07443888485431671 +5376 613985 BETA-THALASSEMIA 0.07443328201770782 +5377 604131 ALPHA-THALASSEMIA 0.07443328201770782 +5378 608710 Granulomatosis with polyangiitis 0.07442166656255722 +5379 615697 Epilepsy, familial temporal lobe, 6 0.07442130893468857 +5380 308830 Keratosis follicularis, dwarfism, and cerebral atrophy 0.07441794872283936 +5381 616887 Mental retardation, autosomal recessive 52 0.07441739737987518 +5382 266255 Radioulnar synostosis, unilateral, with developmental retardationand hypotonia 0.07441174238920212 +5383 158310 Mucoepithelial dysplasia, hereditary 0.07441096007823944 +5384 617526 Erythrokeratodermia variabilis et progressiva 4 0.07440631836652756 +5385 276880 Urocanase deficiency 0.07440560311079025 +5386 616922 Striatal degeneration, autosomal dominant 2 0.07440552860498428 +5387 617988 Jaberi-Elahi syndrome 0.07440268248319626 +5388 617123 Retinitis pigmentosa 76 0.07439872622489929 +5389 136600 Friedreich ataxia, so-called, with optic atrophy and sensorineuraldeafness 0.07439491897821426 +5390 275300 TRACHEOBRONCHOMEGALY 0.07439423352479935 +5391 618830 Autism, susceptibility to, 20 0.07438666373491287 +5392 257850 Oculodentodigital dysplasia, autosomal recessive 0.07438626885414124 +5393 614707 Brown-Vialetto-Van laere syndrome 2 0.07437454164028168 +5394 113000 Brachydactyly, type B1 0.07436263561248779 +5395 604314 Blepharophimosis with facial and genital anomalies and mental retardation 0.07435696572065353 +5396 613060 Epilepsy, idiopathic generalized, 10 0.07430801540613174 +5397 608244 Otosclerosis 3 0.07429970800876617 +5398 615848 Melanoma, cutaneous malignant, susceptibility to, 10 0.07429426163434982 +5399 109800 Bladder cancer 0.07427805662155151 +5400 616193 Mental retardation, autosomal recessive 47 0.07427403330802917 +5401 616756 Spastic paraplegia and psychomotor retardation with or without seizures 0.07426223903894424 +5402 220290 Deafness, autosomal recessive 1A 0.07425103336572647 +5403 610698 Macular degeneration, age-related, 4 0.07422899454832077 +5404 616325 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 0.07421509176492691 +5405 608907 Alzheimer disease 9, susceptibility to 0.0741945430636406 +5406 618218 Baker-Gordon syndrome 0.07418472319841385 +5407 258860 Orofaciodigital syndrome IV 0.07418449968099594 +5408 617396 Anauxetic dysplasia 2 0.07418356835842133 +5409 605041 Brooke-Spiegler syndrome 0.07417397946119308 +5410 163850 Noduli cutanei, multiple, with urinary tract abnormalities 0.07415349036455154 +5411 161480 Nasal bones, absence of 0.07414959371089935 +5412 147610 Iris pigment layer, cleavage of 0.07414557039737701 +5413 619609 Galloway-Mowat syndrome 10 0.07414495944976807 +5414 193005 Vestibulocochlear dysfunction, progressive 0.07414470613002777 +5415 200970 Ackerman syndrome 0.07414256036281586 +5416 616219 Fibrosis of extraocular muscles, congenital, 5 0.07414179295301437 +5417 184510 Steatocystoma multiplex with natal teeth 0.07413750886917114 +5418 613837 Leber congenital amaurosis 11 0.07413376867771149 +5419 228980 Fleck retina, familial benign 0.07413334399461746 +5420 106750 Anonychia with flexural pigmentation 0.07413123548030853 +5421 613268 Corneal dystrophy, Fuchs endothelial, 4 0.07413110136985779 +5422 613827 Retinitis pigmentosa 48 0.07413026690483093 +5423 126600 Doyne honeycomb retinal dystrophy 0.07413016259670258 +5424 601067 Usher syndrome, type ID 0.07412857562303543 +5425 611597 Cataract, autosomal dominant, multiple types 1 0.07412820309400558 +5426 156900 Microphthalmia, isolated, with corectopia 0.07412820309400558 +5427 600101 Deafness, autosomal dominant nonsyndromic sensorineural 2 0.07412654906511307 +5428 619832 Auditory neuropathy, autosomal dominant 3 0.07412654906511307 +5429 601317 Deafness, autosomal dominant nonsyndromic sensorineural 11 0.07412490993738174 +5430 605779 Nail disorder, nonsyndromic congenital, 7 0.07412490248680115 +5431 606705 Deafness, autosomal dominant 36 0.07412485033273697 +5432 614035 Deafness, autosomal recessive 29 0.07412485033273697 +5433 146750 Ichthyosis, lamellar, autosomal dominant 0.07412458211183548 +5434 613718 Deafness, autosomal recessive 74 0.07412444055080414 +5435 601386 Deafness, autosomal recessive 12 0.07412397116422653 +5436 604356 Duane retraction syndrome 2 0.07412322610616684 +5437 618094 Deafness, autosomal recessive 110 0.07412281632423401 +5438 619500 Deafness, autosomal dominant 81 0.07412281632423401 +5439 617605 Deafness, autosomal dominant 71 0.07412281632423401 +5440 618140 Deafness, autosomal dominant 74 0.07412281632423401 +5441 618345 Retinitis pigmentosa 85 0.07412280887365341 +5442 610612 Leber congenital amaurosis 12 0.07412267476320267 +5443 615728 Pachyonychia congenita 4 0.07412248104810715 +5444 615277 Cataract 19, multiple types 0.07412223517894745 +5445 115660 Cataract 7 0.07412214577198029 +5446 613558 Deafness, autosomal dominant 51 0.0741221085190773 +5447 620284 Deafness, autosomal dominant 89 0.0741221085190773 +5448 610092 Microphthalmia with coloboma 3 0.07412129640579224 +5449 603786 Stargardt disease 4 0.07412117719650269 +5450 106230 Aniridia, microcornea, and spontaneously reabsorbed cataract 0.07411963492631912 +5451 616509 Cataract 44 0.07411939650774002 +5452 617825 Glucocorticoid deficiency 5 0.07411859929561615 +5453 608372 Deafness, autosomal dominant nonsyndromic sensorineural 49 0.07411841303110123 +5454 124700 Deafness, mid-tone neural 0.07411841303110123 +5455 613571 Disordered steroidogenesis due to cytochrome P450 oxidoreductase 0.07411827892065048 +5456 241090 Hypogonadism, primary, and partial alopecia 0.07411778718233109 +5457 608367 Myopia 17 0.07411771267652512 +5458 615523 Corneal dystrophy, fuchs endothelial, 8 0.07411733269691467 +5459 601075 Aplasia cutis congenita, high myopia, and cone-rod dysfunction 0.07411714643239975 +5460 618431 Hydatidiform mole, recurrent, 3 0.07411660999059677 +5461 617238 Myopia 25, autosomal dominant 0.07411623001098633 +5462 267800 Retinal dystrophy, reticular pigmentary, of posterior pole 0.0741155743598938 +5463 616947 Premature ovarian failure 12 0.0741155594587326 +5464 231090 Hydatidiform mole, recurrent, 1 0.0741150975227356 +5465 145650 Thyroid hormone resistance, selective pituitary 0.07411480695009232 +5466 615413 Spermatogenic failure 12 0.0741138830780983 +5467 203000 Frontonasal dysplasia with alar clefts 0.07411375641822815 +5468 302200 Cataract, congenital total, with posterior sutural opacities in heterozygotes 0.07411367446184158 +5469 153870 Macular dystrophy, concentric annular 0.07411354035139084 +5470 106250 Ankyloblepharon filiforme adnatum and cleft palate 0.0741134062409401 +5471 276904 Usher syndrome, type IC 0.0741131380200386 +5472 614926 Perrault syndrome 2 0.0741126537322998 +5473 612908 Keratosis palmoplantaris striata II 0.07411248236894608 +5474 620411 Palmoplantar keratoderma, epidermolytic, 2 0.07411248236894608 +5475 614944 Deafness, autosomal recessive 84B 0.0741124153137207 +5476 613916 Deafness, autosomal recessive 89 0.0741124153137207 +5477 613587 Occult macular dystrophy 0.07411159574985504 +5478 115665 Cataract, congenital, Volkmann type 0.0741114467382431 +5479 122200 Corneal dystrophy, lattice type I 0.07411133497953415 +5480 614238 Hypotrichosis 10 0.0741104930639267 +5481 178900 Pupillary membrane, persistence of 0.0741102397441864 +5482 610425 Cataract 23 0.07411020994186401 +5483 188550 Thyroid cancer, nonmedullary, 1 0.0741100162267685 +5484 617663 Deafness, autosomal dominant 73 0.07410982251167297 +5485 601072 Deafness, autosomal recessive 8/10 0.07410982251167297 +5486 609646 Deafness, neurosensory, autosomal recessive 42 0.07410982251167297 +5487 616969 Deafness, autosomal dominant 66 0.07410982251167297 +5488 609254 Senior-Loken syndrome 5 0.07410971075296402 +5489 221740 Deafness-Oligodontia syndrome 0.07410938292741776 +5490 615402 Dyschromatosis universalis hereditaria 3 0.07410907745361328 +5491 248200 Stargardt disease 1 0.07410888373851776 +5492 615224 Advanced sleep phase syndrome, familial, 2 0.07410755008459091 +5493 215500 Choroidal dystrophy, central areolar 1 0.07410754263401031 +5494 219050 Cryptorchidism, unilateral or bilateral 0.07410739362239838 +5495 617654 Deafness, autosomal recessive 108 0.07410729676485062 +5496 600965 Deafness, autosomal dominant 6 0.07410706579685211 +5497 604717 Deafness, autosomal dominant 20 0.07410706579685211 +5498 613325 Rhabdoid tumor predisposition syndrome 2 0.07410704344511032 +5499 617275 Tooth agenesis, selective, 9 0.07410693168640137 +5500 228550 Myofibromatosis, infantile, 1 0.07410616427659988 +5501 303400 Cleft palate, X-linked 0.07410570234060287 +5502 277000 Mayer-Rokitansky-Kuster-Hauser syndrome 0.0741056427359581 +5503 605387 Cataract 31, multiple types 0.0741056352853775 +5504 613824 Nephronophthisis 9 0.07410521060228348 +5505 611498 Nephronophthisis 7 0.07410519570112228 +5506 620383 Oocyte/zygote/embryo maturation arrest 20 0.07410489022731781 +5507 620319 Oocyte/zygote/embryo maturation arrest 17 0.07410489022731781 +5508 608996 Premature ovarian failure 3 0.07410460710525513 +5509 119530 Orofacial cleft 1 0.0741044357419014 +5510 273150 Testes, rudimentary 0.07410404086112976 +5511 618420 Spermatogenic failure 36 0.074103444814682 +5512 125350 Dental noneruption 0.07410330325365067 +5513 600373 CODAS syndrome 0.07410307228565216 +5514 148300 Keratoconus 1 0.0741027444601059 +5515 112300 Book syndrome 0.07410243898630142 +5516 616893 Nephrotic syndrome, type 13 0.0741020143032074 +5517 619011 Oocyte maturation defect 9 0.07410196959972382 +5518 610019 Cataract, autosomal recessive congenital 2 0.07410190999507904 +5519 277180 Vas deferens, congenital bilateral aplasia of 0.07410162687301636 +5520 619672 Spermatogenic failure 61 0.07410130649805069 +5521 619673 Spermatogenic failure 62 0.07410130649805069 +5522 619044 Spermatogenic failure 44 0.0741012692451477 +5523 102530 Spermatogenic failure 6 0.07410117983818054 +5524 620154 Oocyte maturation defect 13 0.07410112768411636 +5525 613957 Spermatogenic failure 8 0.0741010382771492 +5526 619202 Spermatogenic failure 52 0.07410042732954025 +5527 617707 Spermatogenic failure 23 0.07410042732954025 +5528 415000 Spermatogenic failure, Y-linked, 2 0.07410042732954025 +5529 270960 Spermatogenic failure 4 0.07410042732954025 +5530 619380 Spermatogenic failure 55 0.07410012185573578 +5531 400042 Spermatogenic failure, Y-linked, 1 0.07410012185573578 +5532 606766 Spermatogenic failure 3 0.07410012185573578 +5533 619803 Spermatogenic failure 67 0.07410003244876862 +5534 619826 Spermatogenic failure 69 0.07410003244876862 +5535 617961 Spermatogenic failure 26 0.07410003244876862 +5536 613958 Spermatogenic failure 9 0.07410003244876862 +5537 619799 Spermatogenic failure 66 0.07410003244876862 +5538 612555 Breast-Ovarian cancer, familial, susceptibility to, 2 0.07409969717264175 +5539 616968 Deafness, autosomal dominant 70 0.07409938424825668 +5540 618145 Deafness, autosomal recessive 111 0.07409938424825668 +5541 615774 Oocyte maturation defect 0.07409902662038803 +5542 617996 Oocyte maturation defect 5 0.07409890741109848 +5543 620276 Oocyte/zygote/embryo maturation arrest 14 0.07409890741109848 +5544 617743 Oocyte maturation defect 4 0.07409869134426117 +5545 150400 Tooth agenesis, selective, 4 0.0740957111120224 +5546 608096 Epilepsy, familial temporal lobe, 2 0.07407738268375397 +5547 168500 Parietal foramina 0.07406585663557053 +5548 610023 Brachydactyly, coloboma, and anterior segment dysgenesis 0.07406459003686905 +5549 264270 Pseudohermaphroditism, female, with skeletal anomalies 0.07405854016542435 +5550 312910 Spastic paraparesis and deafness 0.07404595613479614 +5551 157600 Mirror movements 1 and/or agenesis of the corpus callosum 0.0740453228354454 +5552 613150 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 0.0740426778793335 +5553 619188 Intellectual developmental disorder, autosomal dominant 64 0.07403864711523056 +5554 615821 Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 0.07402952760457993 +5555 619970 Developmental and epileptic encephalopathy 104 0.07401745021343231 +5556 300200 Adrenal hypoplasia, congenital 0.07400865852832794 +5557 311360 Premature ovarian failure 1 0.07400765269994736 +5558 185700 Symphalangism, distal 0.07400347292423248 +5559 204200 Ceroid lipofuscinosis, neuronal, 3 0.07400011271238327 +5560 170650 Periodontitis, aggressive, 1 0.07399691641330719 +5561 218670 Craniotelencephalic dysplasia 0.07399579882621765 +5562 618564 Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 0.073979951441288 +5563 618744 Epileptic encephalopathy, early infantile, 83 0.07397843152284622 +5564 223800 Dyggve-Melchior-Clausen disease 0.07397681474685669 +5565 600776 Fryns microphthalmia syndrome 0.0739704817533493 +5566 271320 Spinocerebellar degeneration with macular corneal dystrophy, congenitalcataracts, and myopia 0.0739699974656105 +5567 254210 Myasthenic syndrome, congenital, 6, presynaptic 0.07396764308214188 +5568 612813 Spondyloepimetaphyseal dysplasia, Aggrecan type 0.07396338135004044 +5569 112800 Brachydactyly, type A4 0.0739557296037674 +5570 602082 Corneal dystrophy of bowman layer, type II 0.07395477592945099 +5571 617690 Ovarian dysgenesis 5 0.07395075261592865 +5572 257550 Ocular motor apraxia 0.07394129782915115 +5573 610017 Multiple synostoses syndrome 2 0.0739390179514885 +5574 255320 Minicore myopathy with external ophthalmoplegia 0.07393644750118256 +5575 618901 46,XX sex reversal 5 0.07393459975719452 +5576 614588 Dystonia 21 0.0739230290055275 +5577 619639 Neurodevelopmental disorder with hypotonia and gross motor and seech delay 0.07391215860843658 +5578 127300 Leri-Weill dyschondrosteosis 0.07390938699245453 +5579 619727 Craniotubular dysplasia, Ikegawa type 0.0738983079791069 +5580 612337 Intellectual developmental disorder, autosomal dominant 22 0.073887400329113 +5581 605594 Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 0.07387355715036392 +5582 617516 Stankiewicz-Isidor syndrome 0.07387011498212814 +5583 187601 Thanatophoric dysplasia, type II 0.07386083155870438 +5584 616361 Parkinson disease 21 0.07386034727096558 +5585 614934 Deafness, autosomal recessive 70 0.07385943830013275 +5586 215400 Chordoma, susceptibility to 0.07385696470737457 +5587 162200 Neurofibromatosis, type I 0.07384204864501953 +5588 244850 Keratoderma, palmoplantar, norrbotten Recessive type 0.07383865863084793 +5589 600513 Epilepsy, nocturnal frontal lobe, type 1 0.07380754500627518 +5590 176240 Postaxial oligodactyly, tetramelic 0.07380501180887222 +5591 615803 Pontocerebellar hypoplasia, type 10 0.07378794252872467 +5592 619229 Kohlschutter-Tonz syndrome-like 0.07378228008747101 +5593 108600 Spastic ataxia 1, autosomal dominant 0.07375496625900269 +5594 616402 Microcephaly 14, primary, autosomal recessive 0.07375426590442657 +5595 220900 Deafness, congenital, with total albinism 0.07371670752763748 +5596 187350 TELECANTHUS 0.07371401786804199 +5597 610093 Microphthalmia, isolated 2 0.07371386140584946 +5598 618793 Intellectual developmental disorder 62 0.07370809465646744 +5599 604233 Generalized epilepsy with febrile seizures plus, type 1 0.07370691746473312 +5600 616939 Chorea, childhood-onset, with psychomotor retardation 0.07370398938655853 +5601 617044 Short stature, developmental delay, and congenital heart defects 0.07369572669267654 +5602 613391 Deafness, autosomal recessive 84 0.07368354499340057 +5603 614869 Usher syndrome, type IJ 0.07368151098489761 +5604 614990 Usher syndrome, type IK 0.07368151098489761 +5605 616362 Mental retardation, autosomal dominant 36 0.07367637753486633 +5606 254110 Muscular dystrophy, limb-girdle, type 2H 0.07367464154958725 +5607 616270 Amelogenesis imperfecta, type IF 0.07366862893104553 +5608 618173 Retinitis pigmentosa 83 0.07366684824228287 +5609 616221 Amelogenesis imperfecta, type IH 0.0736636146903038 +5610 620374 Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis 0.07365778088569641 +5611 112310 Boomerang dysplasia 0.07364888489246368 +5612 191830 Renal hypodysplasia/aplasia 1 0.07364237308502197 +5613 260540 Supranuclear palsy, progressive atypical 0.0736265480518341 +5614 619217 Endove syndrome, Limb-Only type 0.07362343370914459 +5615 158590 Neuronopathy, distal hereditary motor, type IIA 0.07361828535795212 +5616 164230 Obsessive-Compulsive disorder 1 0.07361666858196259 +5617 164745 Omodysplasia 2 0.07360200583934784 +5618 126900 Dupuytren contracture 1 0.07359082251787186 +5619 108720 Atelosteogenesis, type I 0.0735759362578392 +5620 244600 Keratoconus posticus circumscriptus 0.07356975227594376 +5621 133705 External auditory canal, bilateral atresia of, with congenital verticaltalus 0.07356612384319305 +5622 125500 Dentinogenesis imperfecta, shields type III 0.07356222718954086 +5623 619708 Gastrointestinal defects and immunodeficiency syndrome 2 0.07354731857776642 +5624 619382 Leber hereditary optic neuropathy, autosomal recessive 0.0735471248626709 +5625 619189 Li-Campeau syndrome 0.0735437199473381 +5626 609698 Thyroid hormone metabolism, abnormal 0.0735400915145874 +5627 616946 Premature ovarian failure 11 0.0735369548201561 +5628 618723 Premature ovarian failure 16 0.07353643327951431 +5629 125420 Dentin dysplasia, type II 0.0735316276550293 +5630 612247 Crouzon syndrome with acanthosis nigricans 0.07352666556835175 +5631 608624 Midface hypoplasia, obesity, developmental delay, and neonatal hypotonia 0.0735212042927742 +5632 300957 Mental retardation, X-linked 12/35 0.07352059334516525 +5633 619603 Galloway-Mowat syndrome 9 0.07351537048816681 +5634 271250 Spinocerebellar ataxia, autosomal recessive 3 0.07350782305002213 +5635 107650 Apnea, obstructive sleep 0.07348732650279999 +5636 206750 Aniridia, partial, with unilateral renal agenesis and psychomotorretardation 0.0734841525554657 +5637 609253 Febrile seizures, familial, 6 0.07346482574939728 +5638 602477 Febrile seizures, familial, 2 0.07346482574939728 +5639 121210 Febrile seizures, familial, 1 0.07346482574939728 +5640 615861 Familial idiopathic steroid-resistant nephrotic syndrome 0.073455311357975 +5641 250410 Retinitis pigmentosa with or without skeletal anomalies 0.07345329225063324 +5642 601471 Facial paresis, hereditary congenital, 1 0.0734475627541542 +5643 253400 Spinal muscular atrophy, type III 0.07343024015426636 +5644 618248 Mitochondrial complex I deficiency, nuclear type 27 0.07340530306100845 +5645 168605 Perry syndrome 0.07340530306100845 +5646 300062 Mental retardation, X-linked 14 0.07340452820062637 +5647 224400 Dyssegmental dysplasia, Rolland-Desbuquois type 0.0733821913599968 +5648 256020 Focal segmental glomerulosclerosis 10 0.07338080555200577 +5649 609260 Charcot-marie-tooth disease, axonal, type 2A2A 0.07337309420108795 +5650 258450 Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive 0.07337160408496857 +5651 617562 Meckel syndrome 13 0.07335717231035233 +5652 616490 Joubert syndrome 23 0.07335668802261353 +5653 183300 Splenogonadal fusion with limb defects and micrognathia 0.07334695756435394 +5654 610536 Mandibulofacial dysostosis, Guion-Almeida type 0.07333973050117493 +5655 613364 Spastic paraplegia 41, autosomal dominant 0.07333744317293167 +5656 614129 Perrault syndrome 3 0.0733332633972168 +5657 614508 Mirror movements 2 0.07332800328731537 +5658 613809 Retinitis pigmentosa 39 0.0733068659901619 +5659 618513 Leber congenital amaurosis 19 0.07330595701932907 +5660 614180 Retinitis pigmentosa 61 0.07330585271120071 +5661 608380 Retinitis pigmentosa 26 0.07330407947301865 +5662 613355 Chromosome 17q23.1-q23.2 deletion syndrome 0.07330373674631119 +5663 612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb 0.07330325245857239 +5664 610599 Retinitis pigmentosa 36 0.07328812777996063 +5665 135290 Desmoid disease, hereditary 0.07328806072473526 +5666 618572 Neurodevelopmental disorder with cerebellar hypoplasia and spasticity 0.07328605651855469 +5667 117650 Cerebrocostomandibular syndrome 0.07327017188072205 +5668 614852 Microcephaly 9, primary, autosomal recessive 0.07326727360486984 +5669 609227 Griscelli syndrome, type 3 0.07325367629528046 +5670 208700 Ataxia with myoclonic epilepsy and presenile dementia 0.07325281947851181 +5671 602097 Usher syndrome, type IE 0.07324976474046707 +5672 612961 Multiple synostoses syndrome 3 0.073240265250206 +5673 617105 Epileptic encephalopathy, early infantile, 41 0.07322411239147186 +5674 617751 Intellectual developmental disorder, autosomal dominant 48 0.07320801168680191 +5675 601492 Mucopolysaccharidosis type IX 0.07319746166467667 +5676 620315 Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure 0.07319434732198715 +5677 239500 Hyperprolinemia, type I 0.07318312674760818 +5678 601776 Ehlers-Danlos syndrome, musculocontractural type 1 0.07318185269832611 +5679 619647 Dyskinesia with orofacial involvement, autosomal recessive 0.07317598164081573 +5680 102300 Restless legs syndrome, susceptibility to, 1 0.07316837459802628 +5681 617862 Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 0.07316278666257858 +5682 613909 Spinocerebellar ataxia 32 0.07316276431083679 +5683 255200 Myopathy, centronuclear, 2 0.07314146310091019 +5684 619913 Developmental and epileptic encephalopathy 103 0.07313893735408783 +5685 619161 Carpal tunnel syndrome 2 0.07312385737895966 +5686 605751 Seizures, benign familial infantile, 2 0.07311931252479553 +5687 615873 Helsmoortel-van der Aa syndrome 0.07311112433671951 +5688 203780 Alport syndrome 2, autosomal recessive 0.07310741394758224 +5689 614945 Deafness, autosomal recessive 18B 0.07306315004825592 +5690 600348 Band heterotopia 0.07306072860956192 +5691 616451 Spastic paraplegia 74, autosomal recessive 0.07305894792079926 +5692 604563 Charcot-Marie-Tooth disease, type 4B2 0.07305198162794113 +5693 619738 Parkinsonism-dystonia 3, childhood-onset 0.07302677631378174 +5694 616781 Joubert syndrome 25 0.07301212847232819 +5695 190300 Tremor, hereditary essential, 1 0.07300727069377899 +5696 103900 Aldosteronism, glucocorticoid-remediable 0.07298684865236282 +5697 276821 Ulnar hypoplasia with mental retardation 0.07296276092529297 +5698 620149 Developmental and epileptic encephalopathy 110 0.07295750826597214 +5699 226735 Epidermolysis bullosa with diaphragmatic hernia 0.07294527441263199 +5700 165590 Orofaciodigital syndrome X 0.07293862849473953 +5701 609640 Frias syndrome 0.07292582094669342 +5702 614615 Joubert syndrome 17 0.07292468100786209 +5703 619862 Spinocerebellar ataxia, autosomal recessive 32 0.07292139530181885 +5704 110050 Blepharonasofacial malformation syndrome 0.07291442155838013 +5705 617080 Seizures, benign familial infantile, 5 0.07290302217006683 +5706 128100 Dystonia 1, torsion, autosomal dominant 0.07290038466453552 +5707 613443 Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 0.07289064675569534 +5708 216300 Cleft palate, deafness, and oligodontia 0.07288932800292969 +5709 609384 Fibrosis of extraocular muscles, congenital, 3B 0.07286907732486725 +5710 619512 Neurodevelopmental disorder with hypotonia and brain abnormalities 0.07285697758197784 +5711 619762 Kury-Isidor syndrome 0.07284777611494064 +5712 619306 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia 0.07284491509199142 +5713 609597 Parietal foramina 2 0.07284067571163177 +5714 160565 Myopathy, tubular aggregate, 1 0.07283219695091248 +5715 618494 Congenital hypotonia, epilepsy, developmental delay, and digital anomalies 0.07280933111906052 +5716 600204 Epiphyseal dysplasia, multiple, 2 0.07280862331390381 +5717 609625 Chromosome 10q26 deletion syndrome 0.07278677821159363 +5718 156550 Kniest dysplasia 0.07278535515069962 +5719 615465 Hartsfield syndrome 0.07277767360210419 +5720 300219 Myotubular myopathy with abnormal genital development 0.0727757140994072 +5721 613856 Achromatopsia 4 0.07276316732168198 +5722 302000 Bullous dystrophy, hereditary Macular type 0.07276013493537903 +5723 613086 Glaucoma 3, primary congenital, D 0.07275338470935822 +5724 615312 Albinism, oculocutaneous, type V 0.07275210320949554 +5725 602196 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies 0.07274157553911209 +5726 613950 Schizophrenia 15 0.07271870225667953 +5727 229850 Fryns syndrome 0.07271244376897812 +5728 604804 Microcephaly 3, primary, autosomal recessive 0.07271075248718262 +5729 620113 Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities 0.07270675152540207 +5730 616488 Neuropathy, hereditary sensory and autonomic, type VIII 0.07268980890512466 +5731 619425 Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type) 0.07266387343406677 +5732 614324 Ovarian dysgenesis 3 0.07265914231538773 +5733 279000 Young syndrome 0.07261750102043152 +5734 108721 Atelosteogenesis, type III 0.07260706275701523 +5735 618254 Ciliary dyskinesia, primary, 39 0.07259248197078705 +5736 204650 Amelogenesis imperfecta, type IC 0.07259222865104675 +5737 615412 Cortical dysplasia, complex, with other brain malformations 4 0.07258007675409317 +5738 607631 Epilepsy, juvenile absence 0.07255371659994125 +5739 616266 Congenital contractures of the limbs and face, hypotonia, and developmental delay 0.07255084067583084 +5740 614020 Intellectual developmental disorder, autosomal recessive 14 0.07252221554517746 +5741 610984 Complement factor I deficiency 0.07251868396997452 +5742 615228 Mitochondrial complex V (atp synthase) deficiency, nuclear type 4 0.07250276207923889 +5743 258501 3-methylglutaconic aciduria, type III 0.07249915599822998 +5744 617967 Hydrocephalus, congenital, 3, with brain anomalies 0.07249787449836731 +5745 618803 Respiratory papillomatosis, juvenile recurrent, congenital 0.07249041646718979 +5746 619699 Ferguson-Bonni neurodevelopmental syndrome 0.07248535007238388 +5747 617297 Amelogenesis imperfecta, type IJ 0.07247205078601837 +5748 620029 Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0.07245159149169922 +5749 135750 Laurin-Sandrow syndrome 0.07241865247488022 +5750 617643 Cerebellar atrophy, developmental delay, and seizures 0.07241514325141907 +5751 208150 Fetal akinesia deformation sequence 0.07239986956119537 +5752 181500 Schizophrenia 0.07239372283220291 +5753 610250 Spastic paraplegia 31, autosomal dominant 0.0723913386464119 +5754 618683 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 0.07237125933170319 +5755 618766 Arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum 0.07235786318778992 +5756 601071 Deafness, autosomal recessive 9 0.07234609127044678 +5757 617633 Spinocerebellar ataxia, autosomal recessive 26 0.07233336567878723 +5758 617406 Bardet-Biedl syndrome 21 0.07228299975395203 +5759 613339 Epilepsy, hot water, 1 0.07227537035942078 +5760 618009 Intellectual developmental disorder 61 0.07227268069982529 +5761 609432 Syndactyly, mesoaxial synostotic, with phalangeal reduction 0.07226523756980896 +5762 608470 Corneal dystrophy, Reis-Bucklers type 0.07226364314556122 +5763 608340 Charcot-Marie-Tooth disease, recessive intermediate A 0.07226259261369705 +5764 617194 Lethal congenital contracture syndrome 11 0.0722261592745781 +5765 616445 Candidiasis, familial, 9 0.07222352176904678 +5766 270950 Spastic quadriplegia, retinitis pigmentosa, and mental retardation 0.07220719009637833 +5767 605229 Spastic paraplegia 14, autosomal recessive 0.07218357920646667 +5768 260650 Pellagra-Like syndrome 0.0721808522939682 +5769 214300 Klippel-Feil syndrome, autosomal recessive 0.07217564433813095 +5770 620208 Spinocerebellar ataxia, autosomal recessive 33 0.07217296212911606 +5771 613863 Generalized epilepsy with febrile seizures plus, type 7 0.07216097414493561 +5772 172850 Piebald trait with neurologic defects 0.07215381413698196 +5773 160150 Myopathy, centronuclear, autosomal dominant 0.07214788347482681 +5774 617768 Kleefstra syndrome 2 0.07213179022073746 +5775 602723 Psoriasis 2 0.07212121039628983 +5776 614415 Chilblain lupus 2 0.07212115824222565 +5777 615022 Ichthyosis, congenital, autosomal recessive 7 0.07211904227733612 +5778 236400 Humeroradial synostosishumeroradial/multiple synostosis syndrome 0.07211274653673172 +5779 258870 Gyrate atrophy of choroid and retina with or without ornithinemia 0.07210971415042877 +5780 618619 Weiss-Kruszka syndrome 0.07210323959589005 +5781 611105 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 0.07210154831409454 +5782 300158 Arthrogryposis, congenital, lower limb, X-linked 0.07209782302379608 +5783 614643 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 0.0720968022942543 +5784 616920 Heart and brain malformation syndrome 0.07207944244146347 +5785 617604 Microcephaly, short stature, and limb abnormalities 0.07207740098237991 +5786 617159 Sifrim-Hitz-Weiss syndrome 0.07205530256032944 +5787 617694 Al Kaissi syndrome 0.07204469293355942 +5788 102150 Acromegaloid facial appearance syndrome 0.07204438000917435 +5789 601455 Charcot-Marie-Tooth disease, type 4D 0.07204052805900574 +5790 613926 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation 0.07203374058008194 +5791 609039 Narcolepsy 3 0.07203163951635361 +5792 619422 Spinocerebellar ataxia, autosomal recessive 31 0.07201968133449554 +5793 617571 Ichthyosis, congenital, autosomal recessive 14 0.0720171108841896 +5794 210000 Behr syndrome 0.07201331853866577 +5795 613943 Ichthyosis, congenital, autosomal recessive 8 0.07201093435287476 +5796 619286 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia 0.0720083937048912 +5797 603075 Macular degeneration, age-related, 1 0.072004035115242 +5798 619938 Premature ovarian failure 20 0.07199785858392715 +5799 618014 Premature ovarian failure 14 0.07199764251708984 +5800 618524 Myopathy, congenital, with tremor 0.07199705392122269 +5801 618186 Neuropathy, congenital hypomyelinating, 3 0.07199423015117645 +5802 617087 Charcot-Marie-Tooth disease, axonal, type 2A2B 0.07199113070964813 +5803 618482 Generalized epilepsy with febrile seizures plus, type 10 0.0719897672533989 +5804 162500 Neuropathy, hereditary, with liability to pressure palsies 0.07198871672153473 +5805 618632 Usher syndrome, type 1M 0.07198736071586609 +5806 618022 Humerofemoral hypoplasia with radiotibial ray deficiency 0.07197797298431396 +5807 610279 Pachygyria, frontotemporal 0.07197542488574982 +5808 147800 Aase-Smith syndrome I 0.07194334268569946 +5809 148500 Tylosis with esophageal cancer 0.0719391480088234 +5810 300373 Osteopathia striata with cranial sclerosis 0.07192625105381012 +5811 119100 Split-Hand/foot malformation with long bone deficiency 1 0.07191449403762817 +5812 613684 Rubinstein-Taybi syndrome 2 0.0719127357006073 +5813 607778 Acrocapitofemoral dysplasia 0.07190394401550293 +5814 614892 Immunodeficiency 31A 0.07187588512897491 +5815 174300 Orofaciodigital syndrome V 0.07187412679195404 +5816 118750 Choreoathetosis, familial inverted 0.071870818734169 +5817 619527 Pontocerebellar hypoplasia, type 16 0.07186173647642136 +5818 614465 Joubert syndrome 16 0.07185857743024826 +5819 616763 Leukodystrophy and acquired microcephaly with or without dystonia 0.07185734063386917 +5820 136680 Frasier syndrome 0.07184237986803055 +5821 619486 Aicardi-Goutieres syndrome 8 0.07183809578418732 +5822 615731 Nemaline myopathy 9 0.07181279361248016 +5823 254770 Myoclonic epilepsy, juvenile, susceptibility to, 1 0.07181032747030258 +5824 618821 Rhizomelic limb shortening with dysmorphic features 0.07180164754390717 +5825 119540 Cleft palate, isolated 0.07179871201515198 +5826 617577 Ciliary dyskinesia, primary, 37 0.07178588956594467 +5827 256050 Atelosteogenesis, type II 0.0717853531241417 +5828 612020 Spastic paraplegia 39, autosomal recessive 0.07176630198955536 +5829 147891 Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 0.07176382094621658 +5830 604364 Epilepsy, familial focal, with variable foci 0.07175887376070023 +5831 616410 Spinocerebellar ataxia 41 0.0717402994632721 +5832 224900 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 0.07172523438930511 +5833 113610 Branchial myoclonus with spastic paraparesis and cerebellar ataxia 0.07171662896871567 +5834 616155 Charcot-Marie-Tooth disease, axonal, type 2S 0.07170369476079941 +5835 130010 Ehlers-Danlos syndrome, classic type, 2 0.07170310616493225 +5836 301028 Nephrotic syndrome, type 20 0.07168576866388321 +5837 606703 Dyskinesia, familial, with facial myokymia 0.07168103754520416 +5838 228900 Fibular hypoplasia and complex brachydactyly 0.07165548205375671 +5839 156000 Meniere disease 0.0716516450047493 +5840 614457 Ichthyosis, spastic quadriplegia, and mental retardation 0.0716412141919136 +5841 601372 Chorea, remitting, with nystagmus and cataract 0.0716407373547554 +5842 189490 Tooth malformation 0.07163606584072113 +5843 619927 Intellectual developmental disorder, autosomal dominant 67 0.07162994891405106 +5844 167000 Ovarian cancer 0.07162366807460785 +5845 146255 Hypoparathyroidism, sensorineural deafness, and renal dysplasia 0.07162276655435562 +5846 619007 Retinitis pigmentosa 90 0.07161912322044373 +5847 211980 Lung cancer, susceptibility to 0.07161885499954224 +5848 617304 Retinitis pigmentosa 77 0.07161843776702881 +5849 188470 Thyroid cancer, nonmedullary, 2 0.0716158002614975 +5850 143000 Horner syndrome, congenital 0.07161496579647064 +5851 617028 Intellectual developmental disorder, autosomal recessive 54 0.07159779965877533 +5852 164900 Ophthalmomandibulomelic dysplasia 0.07159167528152466 +5853 612437 Epilepsy, progressive myoclonic 1B 0.07158263772726059 +5854 618435 Arthrogryposis, distal, type 2B2 0.07156316190958023 +5855 607088 Spinal muscular atrophy, distal, autosomal recessive, 3 0.07156246900558472 +5856 300602 Clark-Baraitser syndrome 0.07155989855527878 +5857 617493 Neurodevelopmental disorder with involuntary movements 0.07155214250087738 +5858 151610 Levator-Medial rectus synkinesis 0.07153468579053879 +5859 132800 Multiple self-healing squamous epithelioma 0.07153140008449554 +5860 215800 Cleft larynx, posteriorstridor, congenital, included 0.07153100520372391 +5861 615683 Spastic paraplegia 64, autosomal recessive 0.07152961939573288 +5862 302905 Charge-Like syndrome, X-linked 0.07152701914310455 +5863 610852 Ciliary dyskinesia, primary, 6 0.07151268422603607 +5864 608565 Deafness, autosomal recessive 35 0.07150939851999283 +5865 601700 Sebaceous gland hyperplasia, familial presenile 0.07150623947381973 +5866 251505 Microphthalmia, isolated, with coloboma 4 0.07150252908468246 +5867 251600 Microphthalmia, isolated 1 0.07150071859359741 +5868 165000 Ophthalmoplegia, familial static 0.07150052487850189 +5869 123570 Cryptophthalmos, unilateral or bilateral, isolated 0.07149934023618698 +5870 619215 Oculomotor-abducens synkinesis 0.07149916142225266 +5871 607654 Keratosis palmoplantaris striata III 0.07149296253919601 +5872 136630 Intellectual developmental disorder, autosomal dominant, FRA12A type 0.07149092853069305 +5873 614494 Retinitis pigmentosa 63 0.07148827612400055 +5874 615431 Myopia 23, autosomal recessive 0.07148783653974533 +5875 179840 Reticular dystrophy of retinal pigment epithelium 0.0714876726269722 +5876 610282 Retinitis pigmentosa 35 0.07148730009794235 +5877 611543 Cavitary optic disc anomalies 0.07148725539445877 +5878 607475 Bothnia retinal dystrophy 0.07148722559213638 +5879 110150 Blepharoptosis, myopia, and ectopia lentis 0.07148651033639908 +5880 614614 Deafness, autosomal dominant 4B 0.07148541510105133 +5881 136520 Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included 0.07148502767086029 +5882 615837 Deafness, autosomal recessive 101 0.07148493826389313 +5883 190900 TRITANOPIA 0.07148456573486328 +5884 146600 Ichthyosis hystrix gravior 0.07148417085409164 +5885 268060 Retinopathy, pericentral pigmentary, autosomal recessive 0.07148388773202896 +5886 619783 Epidermolysis bullosa, junctional 2A, intermediate 0.07148277014493942 +5887 182830 Spastic paraplegia, optic atrophy, and dementia 0.07148268073797226 +5888 613074 Deafness, autosomal dominant 50 0.07148247957229614 +5889 613689 Mammary-Digital-Nail syndrome 0.07148245722055435 +5890 600510 Glaucoma-Related pigment dispersion syndrome 0.07148224860429764 +5891 116600 Cataract, posterior polar, 1 ctpa cataract, congenital total, included 0.07148183882236481 +5892 120502 Branchiootic syndrome 2 0.07148124277591705 +5893 267400 Renal, genital, and middle ear anomalies 0.07148120552301407 +5894 618915 Deafness, autosomal dominant 77 0.071480393409729 +5895 619209 Erythrokeratodermia variabilis et progressiva 7 0.07148022204637527 +5896 226500 Epidermolysis bullosa dystrophica neurotrophica 0.07147971540689468 +5897 214350 CHANDS 0.07147897779941559 +5898 108985 Sveinsson chorioretinal atrophy 0.07147888094186783 +5899 601319 Odontomicronychial dysplasia 0.0714784488081932 +5900 603383 Glaucoma 1, open angle, F 0.07147831469774246 +5901 600060 Deafness, neurosensory, autosomal recessive 2 0.07147806882858276 +5902 141350 Hemifacial hyperplasia with strabismus 0.07147768884897232 +5903 620384 Auditory neuropathy, autosomal dominant 2 0.07147753238677979 +5904 617606 Deafness, autosomal dominant 72 0.07147753238677979 +5905 175900 Porokeratosis 3, multiple types 0.07147736102342606 +5906 616042 Deafness, autosomal recessive 103 0.07147715985774994 +5907 620281 Deafness, autosomal dominant 87 0.07147704064846039 +5908 608224 Deafness, autosomal dominant 41 0.07147647440433502 +5909 177700 Glaucoma 1, open angle, P 0.07147640734910965 +5910 278200 Woolly hair, hypotrichosis, everted lower lip, and outstanding ears 0.07147630304098129 +5911 616044 Deafness, autosomal dominant 65 0.0714762881398201 +5912 619553 Deafness, autosomal recessive 118, with cochlear aplasia 0.07147584110498428 +5913 615629 Deafness, autosomal dominant 56 0.0714755728840828 +5914 600974 Deafness, neurosensory, autosomal recessive 7 0.0714755728840828 +5915 136500 Focal facial dermal dysplasia 1, Brauer type 0.07147552073001862 +5916 619781 Myopia 28, autosomal recessive 0.07147538661956787 +5917 126070 Dilution, pigmentary 0.07147513329982758 +5918 217700 Corneal endothelial dystrophy, autosomal recessive 0.07147472351789474 +5919 614279 46,xy sex reversal 8 0.07147403806447983 +5920 617928 Keratoconus 9 0.07147341966629028 +5921 180900 Rutherfurd syndrome 0.07147336006164551 +5922 611038 Microphthalmia, isolated 3 0.07147316634654999 +5923 615537 Reticulate acropigmentation of Kitamura 0.07147271931171417 +5924 616063 Porokeratosis 8, disseminated superficial Actinic type 0.07147271931171417 +5925 617115 Peeling skin syndrome 5 0.07147032767534256 +5926 191480 Uncombable hair syndrome 1 0.07147026807069778 +5927 617251 Uncombable hair syndrome 2 0.07147002220153809 +5928 150280 LARYNGOMALACIA 0.07146946340799332 +5929 129600 Ectopia lentis, familial 0.07146937400102615 +5930 221200 Deafness and myopia 0.07146888971328735 +5931 615735 Palmoplantar keratoderma, nonepidermolytic, focal or diffuse 0.07146842777729034 +5932 614497 Microphthalmia, isolated, with coloboma 7 0.0714680552482605 +5933 605192 Deafness, autosomal dominant 23 0.07146692276000977 +5934 609048 Melanoma, cutaneous malignant, susceptibility to, 3 0.0714663416147232 +5935 614927 Ectodermal dysplasia 5, Hair/nail type 0.07146412879228592 +5936 175800 Porokeratosis 1, multiple types 0.07146395742893219 +5937 619594 Epidermolysis bullosa simplex 2C, localized 0.07146184146404266 +5938 618148 Extraoral halitosis due to MTO deficiency 0.07146167755126953 +5939 618781 Ciliary dyskinesia, primary, 44 0.07146164774894714 +5940 619245 Premature ovarian failure 19 0.07146163284778595 +5941 616631 Porokeratosis 9, multiple types 0.0714615061879158 +5942 601547 Cataract 3, multiple types 0.07146085798740387 +5943 615188 Cataract, multiple types 0.07146056741476059 +5944 615327 Dowling-Degos disease 2 0.07146043330430984 +5945 615081 Spermatogenic failure 11 0.0714595839381218 +5946 615274 Cataract 15, multiple types 0.07145905494689941 +5947 231300 Glaucoma 3, primary congenital, A 0.07145886868238449 +5948 619808 Deafness, autosomal dominant 83 0.07145880162715912 +5949 619831 Spermatogenic failure 71 0.07145817577838898 +5950 618115 Spermatogenic failure 32 0.07145817577838898 +5951 116300 Cataract 30, multiple types 0.07145709544420242 +5952 619145 Spermatogenic failure 50 0.0714564099907875 +5953 618594 Nephrotic syndrome, type 21 0.07145632058382034 +5954 620245 Episodic kinesigenic dyskinesia 3 0.07145622372627258 +5955 619878 Spermatogenic failure 73 0.07145518809556961 +5956 619937 Spermatogenic failure 74 0.07145518809556961 +5957 619646 Spermatogenic failure 60 0.07145518809556961 +5958 619645 Spermatogenic failure 59 0.07145518809556961 +5959 258150 Spermatogenic failure 1 0.07145516574382782 +5960 300985 Vas deferens, congenital bilateral aplasia of, X-linked 0.07145513594150543 +5961 617706 Spermatogenic failure 22 0.07145486772060394 +5962 617644 Spermatogenic failure 21 0.07145480066537857 +5963 617187 Spermatogenic failure 16 0.07145480066537857 +5964 243060 Male infertility with large-headed, multiflagellar, polyploid spermatozoa 0.0714547261595726 +5965 618091 Spermatogenic failure 29 0.07145469635725021 +5966 612359 Cowden-Like syndrome 0.0714544877409935 +5967 615540 Deafness, autosomal recessive 76 0.07145297527313232 +5968 615485 Bainbridge-Ropers syndrome 0.07145057618618011 +5969 148730 Keratosis, focal palmoplantar and gingival 0.0714498832821846 +5970 616806 Wilms tumor 6 0.07144150882959366 +5971 619582 Joubert syndrome 40 0.07143177092075348 +5972 186000 Synpolydactyly 1 0.07142912596464157 +5973 618828 Nabais Sa-de Vries syndrome, type 1 0.071424700319767 +5974 615887 Amelogenesis imperfecta, type IIA5 0.07141219824552536 +5975 275900 Spastic paraplegia 20, autosomal recessive 0.07141196727752686 +5976 155980 Membranous cranial ossification, delayed 0.07140753418207169 +5977 600093 Spondyloepiphyseal dysplasia tarda with characteristic facies 0.0714070126414299 +5978 620313 Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure 0.0713948979973793 +5979 619491 Parkinson disease 24, autosomal dominant, susceptibility to 0.07138986885547638 +5980 616973 Mental retardation, autosomal dominant 42 0.07137082517147064 +5981 118420 Chiari malformation type I 0.07134900987148285 +5982 601650 Paragangliomas 2 0.07132886350154877 +5983 611936 Chromosome 3q29 duplication syndrome 0.07132364064455032 +5984 201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 0.07130295038223267 +5985 300849 Mental retardation, X-linked 41 0.07130132615566254 +5986 609454 Supranuclear palsy, progressive, 2 0.07127732783555984 +5987 104530 Amelogenesis imperfecta, type IA 0.07125487923622131 +5988 611631 Epilepsy, familial temporal lobe, 4 0.07124004513025284 +5989 620062 Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 0.07122375071048737 +5990 611726 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 0.07122111320495605 +5991 611554 Leopard syndrome 2 0.07121150940656662 +5992 617769 Spinocerebellar ataxia 45 0.07119520008563995 +5993 616227 Myasthenic syndrome, congenital, 15 0.0711936503648758 +5994 618273 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0.07118137925863266 +5995 242510 Ichthyosis with alopecia, eclabion, ectropion, and mental retardation 0.07117713987827301 +5996 300299 Neutropenia, severe congenital, X-linked 0.07117652893066406 +5997 274700 Thyroid hormonogenesis, genetic defect in, 3 0.0711737796664238 +5998 617746 Sweeney-Cox syndrome 0.0711626335978508 +5999 613546 Aromatase deficiency 0.07115721702575684 +6000 187370 Arthrogryposis, distal, type 10 0.07115709036588669 +6001 619615 Deafness, autosomal recessive 119 0.0711480900645256 +6002 610253 Kleefstra syndrome 0.07114670425653458 +6003 613736 Acne inversa, familial, 2, with or without dowling-degos disease 0.07112599164247513 +6004 613402 Microcephaly, seizures, and developmental delay 0.07111308723688126 +6005 615268 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4 0.07111261039972305 +6006 612576 Chromosome 17p13.3, telomeric, duplication syndrome 0.07110960781574249 +6007 616716 Rhizomelic chondrodysplasia punctata, type 5 0.07110878080129623 +6008 619318 Oculogastrointestinal neurodevelopmental syndrome 0.07110802084207535 +6009 615284 Charcot-Marie-Tooth disease, type 4B3 0.07110641896724701 +6010 612067 Dystonia 16 0.07108424603939056 +6011 605388 Cerebral palsy, ataxic, autosomal recessive 0.07108084112405777 +6012 165199 Optic atrophy, hearing loss, and peripheral neuropathy, autosomaldominant 0.07107449322938919 +6013 605589 Charcot-Marie-Tooth disease, axonal, type 2B2 0.07107394933700562 +6014 600131 Epilepsy, childhood absence, susceptibility to, 1 0.07106135785579681 +6015 613244 Colorectal cancer, hereditary nonpolyposis, type 8 0.07104905694723129 +6016 618449 Ciliary dyskinesia, primary, 41 0.07104465365409851 +6017 240950 Hypogonadism-Cataract syndrome 0.07101739943027496 +6018 609255 Febrile seizures, familial, 5 0.07101599872112274 +6019 604352 Febrile seizures, familial, 4 0.07101599872112274 +6020 619184 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 0.07100993394851685 +6021 619949 Spermatogenic failure 75 0.07099790871143341 +6022 617547 Retinal dystrophy with or without macular staphyloma 0.07098791003227234 +6023 616280 Charcot-Marie-Tooth disease, axonal, type 2U 0.07098420709371567 +6024 224410 Dyssegmental dysplasia, Silverman-Handmaker type 0.07098326086997986 +6025 618825 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0.07097406685352325 +6026 181510 Schizophrenia 1 0.07095509767532349 +6027 613428 Retinitis pigmentosa 54 0.07094684988260269 +6028 613794 Retinitis pigmentosa 20 0.07094421982765198 +6029 610359 Retinitis pigmentosa 33 0.07094351202249527 +6030 607921 Retinitis pigmentosa 30 0.07094302773475647 +6031 613756 Retinitis pigmentosa 49 0.07094243168830872 +6032 617871 Retinitis pigmentosa 81 0.07094024866819382 +6033 613801 Retinitis pigmentosa 40 0.07094018161296844 +6034 165510 Optic atrophy with negative electroretinograms 0.07093078643083572 +6035 602875 Acromesomelic dysplasia, Maroteaux type 0.07090259343385696 +6036 615009 Schuurs-Hoeijmakers syndrome 0.07089406251907349 +6037 128235 Dystonia 12 0.0708882063627243 +6038 618049 Parkinsonism-Dystonia, infantile, 2 0.0708770900964737 +6039 615225 Palmoplantar carcinoma, multiple self-healing 0.07087673246860504 +6040 612713 Kahrizi syndrome 0.07087209820747375 +6041 615957 Spinocerebellar ataxia 38 0.07086469233036041 +6042 121200 Seizures, benign familial neonatal, 1 0.07086055725812912 +6043 183800 Split-Hand with congenital nystagmus, fundal changes, and cataracts 0.07085342705249786 +6044 618687 Intellectual developmental disorder with short stature and behavioral abnormalities 0.07084991782903671 +6045 607584 Spastic paraplegia 24, autosomal recessive 0.07084836065769196 +6046 248900 Mast syndrome 0.07084665447473526 +6047 618011 Hyperekplexia 4 0.0708458349108696 +6048 613576 Ectodermal dysplasia-syndactyly syndrome 2 0.0708417072892189 +6049 615328 Shaheen syndrome 0.07080839574337006 +6050 614701 Cornelia de Lange syndrome 4 0.07079589366912842 +6051 605419 Schizophrenia 10 0.07077529281377792 +6052 612539 Spastic paraplegia 42, autosomal dominant 0.07077249884605408 +6053 618383 Intellectual developmental disorder, autosomal recessive 69 0.07075462490320206 +6054 612899 Epilepsy idiopathic generalized, susceptibility to, 8 0.0707462802529335 +6055 610755 Multiple endocrine neoplasia, type IV 0.0707448422908783 +6056 604121 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 0.07073138654232025 +6057 609428 Tukel syndrome 0.07069971412420273 +6058 614961 Pontocerebellar hypoplasia, type 8 0.07069636881351471 +6059 620327 Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities 0.07067765295505524 +6060 200500 Acheiropody 0.0706620067358017 +6061 617629 Schizophrenia 19 0.07065621763467789 +6062 136480 Fourth cranial nerve palsy, familial congenital 0.07063835859298706 +6063 618547 Neurodevelopmental disorder with visual defects and brain anomalies 0.07063058018684387 +6064 214450 Griscelli syndrome, type 1 0.07062733173370361 +6065 616531 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 0.07060839235782623 +6066 278750 Xeroderma pigmentosum, variant type 0.07059945911169052 +6067 607932 Microphthalmia, syndromic 6 0.0705612450838089 +6068 607671 Dystonia 13, torsion 0.07055504620075226 +6069 614858 Hypogonadotropic hypogonadism 14 with or without anosmia 0.07053422927856445 +6070 618786 Imagawa-Matsumoto syndrome 0.07052398473024368 +6071 618008 Developmental and epileptic encephalopathy 65 0.07044940441846848 +6072 125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy 0.07044372707605362 +6073 608443 Intellectual developmental disorder, autosomal recessive 3 0.0704401507973671 +6074 614251 Parkinson disease 18 0.0704285204410553 +6075 619087 Noonan syndrome 13 0.07042273133993149 +6076 109120 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 0.07041489332914352 +6077 614115 Cortical malformations, occipital 0.07041263580322266 +6078 615282 Cortical dysplasia, complex, with other brain malformations 2 0.07041220366954803 +6079 309580 Intellectual disability-hypotonic facies syndrome, X-linked 0.07040524482727051 +6080 614851 Seckel syndrome 7 0.07039743661880493 +6081 620038 Neurodevelopmental disorder with microcephaly, hypotonia, and absent language 0.07035209238529205 +6082 618317 Basal ganglia calcification, idiopathic, 7, autosomal recessive 0.07035140693187714 +6083 618330 Global developmental delay with or without impaired intellectual development 0.0703289806842804 +6084 144755 Hyperostosis cranialis interna 0.07032326608896255 +6085 617721 Neuronopathy, distal hereditary motor, type IX 0.07029231637716293 +6086 614830 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 0.07026971876621246 +6087 600852 Retinitis pigmentosa 17 0.07025744020938873 +6088 617991 Developmental delay, intellectual disability, obesity, and dysmorphic features 0.07025504857301712 +6089 615163 Cone-Rod dystrophy 17 0.07025491446256638 +6090 602093 Cone dystrophy 3 0.07024639844894409 +6091 600331 Parc syndrome 0.07023041695356369 +6092 203550 Alopecia-Contractures-Dwarfism mental retardation syndrome 0.07022608816623688 +6093 615877 Microphthalmia/coloboma and skeletal dysplasia syndrome 0.07022373378276825 +6094 618056 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 0.07019126415252686 +6095 204700 Amelogenesis imperfecta, hypomaturation type, iia1 0.07017926871776581 +6096 600334 Tibial muscular dystrophy, tardive 0.07016602903604507 +6097 614116 Neuropathy, hereditary sensory, type IE 0.07014116644859314 +6098 612447 Skeletal defects, genital hypoplasia, and mental retardation 0.07013009488582611 +6099 617711 Developmental and epileptic encephalopathy 91 0.07011662423610687 +6100 616795 Spinocerebellar ataxia 42 0.07011189311742783 +6101 605899 Glycine encephalopathy 0.0700744166970253 +6102 221320 Deafness, conductive, with ptosis and skeletal anomalies 0.07007408887147903 +6103 620322 C1q deficiency 3 0.07006664574146271 +6104 618354 Neurodevelopmental disorder and language delay with or without structural brain abnormalities 0.07004109770059586 +6105 613195 Weill-Marchesani syndrome 4 0.07003066688776016 +6106 615553 Arthrogryposis, mental retardation, and seizures 0.0700192004442215 +6107 302700 Cerebral sclerosis, diffuse, Scholz type 0.07001250237226486 +6108 614526 Chromosome 17Q12 duplication syndrome 0.07000958174467087 +6109 600132 Retinitis pigmentosa 14 0.06999855488538742 +6110 613703 Microphthalmia, isolated, with coloboma 6 0.06999507546424866 +6111 620305 Neurooculorenal syndrome 0.0699739158153534 +6112 128200 Episodic kinesigenic dyskinesia 1 0.069955013692379 +6113 615686 Spastic paraplegia 63, autosomal recessive 0.06994350999593735 +6114 226730 Epidermolysis bullosa, junctional, with pyloric atresia 0.06993985921144485 +6115 604218 Encephalopathy, familial, with neuroserpin inclusion bodies 0.06988967955112457 +6116 619074 Cleft palate, proliferative retinopathy, and developmental delay 0.06985263526439667 +6117 613660 Cone-rod dystrophy 15 0.06984635442495346 +6118 612469 WAGRO syndrome 0.0698433443903923 +6119 616521 Mental retardation, autosomal dominant 39 0.06983999907970428 +6120 613826 Leber congenital amaurosis 6 0.0698370486497879 +6121 607678 Charcot-Marie-Tooth disease, demyelinating, type 1D 0.06980428844690323 +6122 615993 Bardet-Biedl syndrome 16 0.06979884207248688 +6123 120433 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 0.06979735940694809 +6124 228930 Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 0.0697939395904541 +6125 610244 Spastic paraplegia 33, autosomal dominant 0.06979182362556458 +6126 164500 Spinocerebellar ataxia 7 0.06977814435958862 +6127 618659 Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 0.06976866722106934 +6128 614874 Ciliary dyskinesia, primary, 18 0.06976152956485748 +6129 617525 Erythrokeratodermia variabilis et progressiva 3 0.06976091116666794 +6130 618021 Tetraamelia syndrome 2 0.06975668668746948 +6131 618369 Spinocerebellar ataxia, autosomal recessive 27 0.06975332647562027 +6132 601764 Seizures, benign familial infantile, 1 0.06974952667951584 +6133 300986 Mental retardation, X-linked, syndromic, Bain type 0.06973325461149216 +6134 602083 Usher syndrome, type IF 0.06972207129001617 +6135 615439 Macular degeneration, age-related, 13 0.06972043216228485 +6136 154230 46,xy sex reversal 4 0.06970798969268799 +6137 143100 Huntington disease 0.06968796253204346 +6138 616268 Arboleda-Tham syndrome 0.06965838372707367 +6139 618652 Neurooculocardiogenitourinary syndrome 0.06965623795986176 +6140 617574 Ichthyosis, congenital, autosomal recessive 13 0.06965303421020508 +6141 113477 Brachymorphism-Onychodysplasia-Dysphalangism syndrome 0.0696171224117279 +6142 132450 Epiphyseal dysplasia, multiple, with myopia and conductive deafness 0.06960934400558472 +6143 600882 Charcot-Marie-Tooth disease, axonal, type 2B 0.06960812211036682 +6144 615724 Premature ovarian failure 9 0.06960320472717285 +6145 234500 Hartnup disorder 0.06960117071866989 +6146 618801 Ciliary dyskinesia, primary, 45 0.06959441304206848 +6147 249600 Mental retardation syndrome, Mietens-Weber type 0.06959187984466553 +6148 182690 Spastic paraplegia, sensorineural deafness, mental retardation, and 0.06958886235952377 +6149 614420 Systemic lupus erythematosus 16 0.06956181675195694 +6150 614402 Microphthalmia, syndromic 11 0.06954865902662277 +6151 616370 Multiple mitochondrial dysfunctions syndrome 4 0.06951455771923065 +6152 600251 Facial clefting, oblique, 1 0.06950373947620392 +6153 112500 Brachydactyly, type A1 0.06950318068265915 +6154 615226 Polydactyly, postaxial, type A6 0.06950182467699051 +6155 616831 Luscan-Lumish syndrome 0.06949446350336075 +6156 613077 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 0.06948630511760712 +6157 239800 Hypertelorism, microtia, facial clefting syndrome 0.06948190182447433 +6158 619142 Cardioacrofacial dysplasia 1 0.06947841495275497 +6159 615763 Cortical dysplasia, complex, with other brain malformations 5 0.06947176903486252 +6160 619135 Ritscher-Schinzel syndrome 3 0.0694705918431282 +6161 312750 Rett syndrome 0.06946917623281479 +6162 177980 Pterygia, mental retardation, and distinctive craniofacial features 0.069468654692173 +6163 225790 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 0.069466233253479 +6164 120330 Papillorenal syndrome 0.0694621205329895 +6165 619817 Epidermolysis bullosa, junctional 6, with pyloric atresia 0.06943976879119873 +6166 218340 Temtamy syndrome 0.06942430883646011 +6167 183900 Spondyloepiphyseal dysplasia congenita 0.06942225992679596 +6168 618328 Epileptic encephalopathy, early infantile, 71 0.06942212581634521 +6169 615761 Intellectual developmental disorder, autosomal dominant 23 0.06941065937280655 +6170 617770 Spinocerebellar ataxia 46 0.06940289586782455 +6171 620379 Spastic paraplegia 89, autosomal recessive 0.06938883662223816 +6172 618732 Poirier-Bienvenu neurodevelopmental syndrome 0.06938285380601883 +6173 194072 Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome 0.06937982141971588 +6174 603116 CDAGS syndrome 0.06937526166439056 +6175 601499 Axenfeld-rieger syndrome, type 2 0.06936421245336533 +6176 271665 Spondylometaepiphyseal dysplasia, short Limb-Hand type 0.06935549527406693 +6177 615400 Epilepsy, familial adult myoclonic, 5 0.06935326755046844 +6178 258315 Omodysplasia 1 0.06934935599565506 +6179 123150 Jackson-Weiss syndrome 0.06934183090925217 +6180 248390 Treacher Collins syndrome 3 0.06933892518281937 +6181 183050 Spinocerebellar ataxia with rigidity and peripheral neuropathy 0.06930897384881973 +6182 604757 Craniosynostosis 2 0.06929925829172134 +6183 616902 Chromosome 11P13 deletion syndrome, distal 0.06927599757909775 +6184 201250 Acromesomelic dysplasia, Hunter-Thompson type 0.06927255541086197 +6185 600332 Rippling muscle disease 1 0.06926985085010529 +6186 118100 Klippel-Feil syndrome 1, autosomal dominant 0.0692443698644638 +6187 606242 Mental retardation, microcephaly, growth retardation, joint contractures,and facial dysmorphism 0.06923279166221619 +6188 193530 Weyers acrofacial dysostosis 0.06922408193349838 +6189 200130 Absent eyebrows and eyelashes with mental retardation 0.0692216157913208 +6190 618124 Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 0.06921666860580444 +6191 613641 Charcot-marie-tooth disease, recessive intermediate B 0.06921007484197617 +6192 142946 Holoprosencephaly 4 0.0691923126578331 +6193 619714 Congenital disorder of glycosylation, type Iw, autosomal dominant 0.06918387860059738 +6194 616390 Trichothiodystrophy 2, photosensitive 0.06916893273591995 +6195 211350 Kyphomelic dysplasia 0.0691574364900589 +6196 614322 Spinocerebellar ataxia, autosomal recessive 12 0.0691523551940918 +6197 618730 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 0.06914077699184418 +6198 618266 Pontocerebellar hypoplasia, type 12 0.06911565363407135 +6199 181600 Huriez syndrome 0.06908886134624481 +6200 601453 Trichodental dysplasia 0.06906691193580627 +6201 614203 Parkinson disease 17 0.06905841827392578 +6202 147250 Solitary median maxillary central incisor 0.0690552294254303 +6203 617882 Charcot-Marie-Tooth disease, dominant intermediate G 0.06905112415552139 +6204 617761 Joubert syndrome 31 0.06904733926057816 +6205 137600 Iridogoniodysgenesis, type 2 0.06903921067714691 +6206 258400 Ophthalmoplegia totalis with ptosis and miosis 0.06903911381959915 +6207 251700 Microphthalmia with hyperopia, retinal degeneration, macrophakia,and dental anomalies 0.06903868913650513 +6208 600193 Waardenburg syndrome, type IIB 0.06903768330812454 +6209 617013 Hypermanganesemia with dystonia 2 0.06903696060180664 +6210 165098 Ophthalmoplegia, familial total, with iris transillumination 0.06903458386659622 +6211 607476 Newfoundland rod-cone dystrophy 0.06902878731489182 +6212 618339 Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development 0.06902705132961273 +6213 618060 Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0.06902606785297394 +6214 617041 Duane retraction syndrome 3 with or without deafness 0.06902535259723663 +6215 605549 Cone-Rod dystrophy 8 0.06902515888214111 +6216 609508 Stickler sydrome, type I, nonsyndromic ocular 0.06902434676885605 +6217 611383 Usher syndrome, type IID 0.06902416795492172 +6218 615028 Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive 0.06902367621660233 +6219 603649 Cone-rod dystrophy 7 0.06902355700731277 +6220 617073 Tooth agenesis, selective, 8 0.06902318447828293 +6221 614187 Hypertelorism, preauricular sinus, punctal pits, and deafness 0.06902242451906204 +6222 606068 Retinitis pigmentosa 28 0.06902238726615906 +6223 616389 Night blindness, congenital stationary, type 1G 0.06902216374874115 +6224 608471 Corneal dystrophy, lattice type IIIA 0.06902167946100235 +6225 608850 Macular dystrophy, retinal, 3 0.06902164965867996 +6226 600110 Stargardt disease 3 0.06902141124010086 +6227 610189 Senior-Loken syndrome 6 0.06902100890874863 +6228 156850 Microphthalmia, isolated, with cataract 1 0.0690198689699173 +6229 611809 Bestrophinopathy, autosomal recessive 0.06901969760656357 +6230 607541 Corneal dystrophy, Avellino type 0.06901953369379044 +6231 620280 Deafness, autosomal dominant 86 0.06901939958333969 +6232 619785 Epidermolysis bullosa, junctional 3A, intermediate 0.06901884078979492 +6233 610896 Branchiootorenal syndrome 2 0.06901855766773224 +6234 177990 Pterygium colli, isolated 0.06901759654283524 +6235 615696 Dowling-Degos disease 4 0.06901746243238449 +6236 618880 Glaucoma, primary closed-angle 0.06901630759239197 +6237 149200 Bart-Pumphrey syndrome 0.06901628524065018 +6238 203290 Albinism, oculocutaneous, type III 0.06901627779006958 +6239 167200 Pachyonychia congenita, type 1 0.06901578605175018 +6240 121900 Groenouw type I corneal dystrophy 0.06901532411575317 +6241 620228 Retinitis pigmentosa 96, autosomal dominant 0.06901484727859497 +6242 607821 Deafness, autosomal recessive 37 0.06901448220014572 +6243 617315 Anterior segment dysgenesis 6, multiple subtypes 0.06901323050260544 +6244 616722 Retinal dystrophy and iris coloboma with or without congenital cataract 0.06901320815086365 +6245 618078 Ovarian dysgenesis 6 0.0690130665898323 +6246 614152 Deafness, autosomal dominant 64 0.06901279091835022 +6247 614211 Deafness, autosomal dominant 33 0.06901279091835022 +6248 268010 Retinitis pigmentosa inversa with deafness 0.06901275366544724 +6249 614928 Ectodermal dysplasia 6, Hair/nail type 0.06901240348815918 +6250 619593 Cataract 49 0.06901153922080994 +6251 615059 Hypotrichosis 11 0.06901031732559204 +6252 131800 Epidermolysis bullosa simplex, Weber-Cockayne type 0.06901020556688309 +6253 241100 Hypogonadism, malehypogonadism and testicular atrophy, included 0.0690101608633995 +6254 617111 Macular dystrophy, patterned, 3 0.06901012361049652 +6255 610445 Night blindness, congenital stationary, autosomal dominant 1 0.06901010870933533 +6256 617252 Uncombable hair syndrome 3 0.06900854408740997 +6257 618546 Trichothiodystrophy 7, nonphotosensitive 0.06900852918624878 +6258 148600 Palmoplantar keratoderma, punctate type IA 0.06900603324174881 +6259 116800 Cataract, lamellar 0.06900511682033539 +6260 275200 Hypothyroidism, congenital, nongoitrous, 1 0.06900480389595032 +6261 608474 Myopia 5 0.06900476664304733 +6262 274500 Thyroid hormonogenesis, genetic defect in, 2A 0.06900462508201599 +6263 600881 Cataract, congenital zonular, with sutural opacities 0.06900358200073242 +6264 600791 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 0.06900325417518616 +6265 608653 Deafness, autosomal recessive 32, with or without immotile sperm 0.06900300830602646 +6266 616534 Thyroid cancer, nonmedullary, 4 0.06900149583816528 +6267 618697 Retinitis pigmentosa 87 with choroidal involvement 0.06900077313184738 +6268 116200 Cataract 1, multiple types 0.06900040805339813 +6269 180920 Aplasia of lacrimal and salivary glands 0.06900027394294739 +6270 618612 Lower urinary tract obstruction, congenital 0.06899948418140411 +6271 619810 Deafness, autosomal dominant 84 0.0689987987279892 +6272 126700 Basal laminar drusen 0.0689985528588295 +6273 620049 Nephrotic syndrome, type 26 0.06899812817573547 +6274 619274 Deafness, autosomal dominant 80 0.06899795681238174 +6275 116100 Cataract 20, multiple types 0.06899669766426086 +6276 614822 Spermatogenic failure 10 0.06899546086788177 +6277 202150 Adrenal hypoplasia, congenital, with absent pituitary luteinizinghormone 0.06899499148130417 +6278 620277 Spermatogenic failure 81 0.06899343430995941 +6279 619102 Spermatogenic failure 47 0.06899320334196091 +6280 618670 Spermatogenic failure 41 0.06899318844079971 +6281 619094 Spermatogenic failure 45 0.06899303197860718 +6282 618751 Spermatogenic failure 43 0.068992979824543 +6283 620170 Spermatogenic failure 78 0.06899294257164001 +6284 619108 Spermatogenic failure 48 0.06899294257164001 +6285 619828 Spermatogenic failure 70 0.06899264454841614 +6286 619696 Spermatogenic failure 64 0.06899256259202957 +6287 620196 Spermatogenic failure 79 0.06899230182170868 +6288 619176 Oocyte maturation defect 10 0.0689922645688057 +6289 612997 Spermatogenic failure 7 0.06899218261241913 +6290 620499 Spermatogenic failure 86 0.06899211555719376 +6291 619528 Spermatogenic failure 57 0.06899210810661316 +6292 619689 Spermatogenic failure 63 0.06899210810661316 +6293 620354 Spermatogenic failure 83 0.0689920037984848 +6294 617593 Spermatogenic failure 20 0.06899187713861465 +6295 616220 Focal segmental glomerulosclerosis 9 0.06899017840623856 +6296 617959 Spermatogenic failure 24 0.06898897886276245 +6297 251255 Jawad syndrome 0.06898648291826248 +6298 620237 Intellectual developmental disorder, autosomal recessive 78 0.06898277252912521 +6299 162210 Neurofibromatosis, familial spinal 0.06898099929094315 +6300 615120 Myasthenic syndrome, congenital, 8 0.06897560507059097 +6301 210700 Microcephalic primordial dwarfism, Montreal type 0.06896926462650299 +6302 268305 Robin sequence with cleft mandible and limb anomalies 0.0689658373594284 +6303 620156 Cortical dysplasia, complex, with other brain malformations 11 0.06896386295557022 +6304 301077 Spermatogenic failure, X-linked, 4 0.06894375383853912 +6305 607681 Febrile seizures, familial, 8 0.06892257928848267 +6306 300604 Premature ovarian failure 2B 0.06891284883022308 +6307 221820 Leukoencephalopathy, diffuse hereditary, with spheroids 0.0689062625169754 +6308 274205 Thumb, hypoplastic, with choroid coloboma, poorly developed antihelix,and deafness 0.06890159845352173 +6309 607458 Spinocerebellar ataxia 18 0.06888023763895035 +6310 137580 Gilles de la tourette syndrome 0.06887634098529816 +6311 168601 Parkinson disease 1, autosomal dominant 0.068855419754982 +6312 619042 Spinal muscular atrophy, infantile, James type 0.06882594525814056 +6313 617863 Intellectual developmental disorder, autosomal dominant 69 0.06881491094827652 +6314 211390 Sabinas brittle hair syndrome 0.06881098449230194 +6315 221300 Deafness, conductive, with malformed external ear 0.06880784034729004 +6316 616617 Heimler syndrome 2 0.06880433857440948 +6317 614800 Short stature, optic nerve atrophy, and pelger-huet anomaly 0.0687907412648201 +6318 618095 Intellectual developmental disorder, autosomal recessive 63 0.06878583133220673 +6319 112600 Brachydactyly, type A2 0.06878272444009781 +6320 617301 Glycine encephalopathy with normal serum glycine 0.06875431537628174 +6321 235830 Histidinuria due to A renal tubular defect 0.06874735653400421 +6322 606688 Spongiform encephalopathy with neuropsychiatric features 0.06873461604118347 +6323 613194 Retinitis pigmentosa-50 0.06873004138469696 +6324 277150 Van bogaert-hozay syndrome 0.06872906535863876 +6325 180210 Retinopathy, pericentral pigmentary, dominant 0.06872810423374176 +6326 612572 Retinitis pigmentosa 46 0.06872604042291641 +6327 172700 Pick disease of brain 0.06872445344924927 +6328 241800 Pallister-Hall-like syndrome 0.06872295588254929 +6329 181450 Ulnar-Mammary syndrome 0.06872153282165527 +6330 616116 Intellectual developmental disorder, autosomal recessive 46 0.06871455162763596 +6331 616158 Mental retardation, autosomal dominant 31 0.06870777904987335 +6332 616067 46,xy sex reversal 9 0.06869645416736603 +6333 615527 Candidiasis, familial, 8 0.06867963075637817 +6334 619648 Zaki syndrome 0.06866775453090668 +6335 618774 CEBALID syndrome 0.06866537034511566 +6336 600223 Spinocerebellar ataxia 4 0.06864218413829803 +6337 618096 Premature ovarian failure 15 0.06863938271999359 +6338 617442 Premature ovarian failure 13 0.06863730400800705 +6339 300261 Mental retardation syndrome, X-linked, Armfield type 0.06861495971679688 +6340 620292 Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 0.06860452145338058 +6341 620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities 0.06860221922397614 +6342 617557 Gabriele-De vries syndrome 0.06859246641397476 +6343 614679 Ciliary dyskinesia, primary, 17 0.06858698278665543 +6344 617976 Epileptic encephalopathy, early infantile, 63 0.06858031451702118 +6345 128980 Earlobes, thickened, with conductive deafness from incudostapedialabnormalities 0.06857870519161224 +6346 615722 Bosch-Boonstra-Schaaf optic atrophy syndrome 0.06857084482908249 +6347 614809 Nephropathy due to CFHR5 deficiency 0.06856933981180191 +6348 603563 Spastic paraplegia 8, autosomal dominant 0.06856794655323029 +6349 620027 Neurodevelopmental disorder with microcephaly, short stature, and speech delay 0.06856153905391693 +6350 615771 Cortical dysplasia, complex, with other brain malformations 6 0.06855098903179169 +6351 264480 Pseudotrisomy 13 syndrome 0.06854116171598434 +6352 311050 Optic atrophy 2 0.06851625442504883 +6353 606895 Symphalangism, distal, with microdontia, dental pulp stones, and narrowedzygomatic arch 0.06847552955150604 +6354 193220 Vitreoretinochoroidopathy 0.06847211718559265 +6355 619595 Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 0.06847064197063446 +6356 609800 Generalized epilepsy with febrile seizures plus, type 4 0.06847015023231506 +6357 613227 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3 0.06846992671489716 +6358 300661 Phosphoribosylpyrophosphate synthetase superactivity 0.06846471130847931 +6359 620070 Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 0.06845705211162567 +6360 172800 Piebald trait 0.06845498085021973 +6361 617930 Chromosome 1p35 deletion syndrome 0.0684470534324646 +6362 616055 Episodic ataxia, type 8 0.06844240427017212 +6363 206900 Microphthalmia, syndromic 3 0.06844083964824677 +6364 309555 Mental retardation with optic atrophy, deafness, and seizures 0.06840222328901291 +6365 616145 Catel-Manzke syndrome 0.06840186566114426 +6366 601701 Arthrogryposis and ectodermal dysplasia 0.06840039789676666 +6367 613371 Spinocerebellar ataxia 30 0.06839700043201447 +6368 617854 Intellectual developmental disorder, autosomal dominant 56 0.06839476525783539 +6369 610651 Xeroderma pigmentosum, complementation group B 0.06839348375797272 +6370 608984 Ataxia, sensory, autosomal dominant 0.06839155405759811 +6371 184840 Stickler syndrome, type III 0.06837598979473114 +6372 185800 Symphalangism, proximal, 1A 0.06836283951997757 +6373 615544 Periventricular nodular heterotopia 6 0.06835129857063293 +6374 150250 Larsen syndrome 0.06833728402853012 +6375 601238 Cerebellar ataxia, Cayman type 0.06833571195602417 +6376 218600 Baller-Gerold syndrome 0.06833101809024811 +6377 617153 Epileptic encephalopathy, early infantile, 45 0.06832785159349442 +6378 606053 Intellectual developmental disorder with autism and speech delay 0.06831900030374527 +6379 619681 Dystonia, early-onset, and/or spastic paraplegia 0.06830772012472153 +6380 616449 Basel-Vanagaite-Smirin-Yosef syndrome 0.0682825967669487 +6381 615073 Dystonia 25 0.06826578825712204 +6382 301013 Mental retardation, X-linked 107 0.06825825572013855 +6383 619834 Ovarian dysgenesis 10 0.06825754791498184 +6384 614970 Joubert syndrome 20 0.06825274229049683 +6385 602482 Axenfeld-Rieger syndrome, type 3 0.06824938207864761 +6386 617822 Alkuraya-Kucinskas syndrome 0.06824418157339096 +6387 608393 Microcephaly, primary autosomal recessive, 6 0.06821328401565552 +6388 619227 Vertebral, cardiac, tracheoesophageal, renal, and limb defects 0.06821202486753464 +6389 311895 Pierre Robin sequence with facial and digital anomalies 0.06819786131381989 +6390 612370 Hypogonadotropic hypogonadism 5 with or without anosmia 0.06819023936986923 +6391 619665 Ovarian dysgenesis 9 0.06817571818828583 +6392 101200 Apert syndrome 0.06817302107810974 +6393 213300 Joubert syndrome 1 0.06813494116067886 +6394 607346 Spinocerebellar ataxia 19 0.0681116059422493 +6395 614842 Hypogonadotropic hypogonadism 13 with or without anosmia 0.06809967011213303 +6396 300882 Cornelia de Lange syndrome 5 0.06809854507446289 +6397 617051 Neurodevelopmental disorder with microcephaly and gray sclerae 0.06806570291519165 +6398 607417 Intellectual developmental disorder, autosomal recessive 2 0.06805731356143951 +6399 179270 Radial ray hypoplasia with choanal atresia 0.06805549561977386 +6400 608634 Neuronopathy, distal hereditary motor, type IIB 0.06804439425468445 +6401 618109 Intellectual developmental disorder, autosomal recessive 65 0.06803511828184128 +6402 212720 Martsolf syndrome 1 0.06803367286920547 +6403 258700 Opticocochleodentate degeneration 0.06802995502948761 +6404 615961 Acid-labile subunit, deficiency of 0.0680263489484787 +6405 616625 Charcot-Marie-Tooth disease, axonal, type 2W 0.06802547723054886 +6406 615314 Craniosynostosis 3 0.06801003962755203 +6407 612001 Chromosome 15q13.3 microdeletion syndrome 0.06799863278865814 +6408 612703 Microcephaly 7, primary, autosomal recessive 0.06798681616783142 +6409 600138 Retinitis pigmentosa 11 0.06798482686281204 +6410 190440 Trigonocephaly 1 0.06797152757644653 +6411 266810 Renal and mullerian duct hypoplasia 0.06794467568397522 +6412 608716 Microcephaly 5, primary, autosomal recessive 0.06792508810758591 +6413 620344 Bradyopsia 2 0.0679187923669815 +6414 204110 Amaurosis congenita, cone-rod type, with congenital hypertrichosis 0.06791576743125916 +6415 616502 Cone-rod dystrophy 21 0.06791441142559052 +6416 258500 Optic atrophy 6 0.0679110586643219 +6417 300067 Lissencephaly, X-linked, 1 0.06790824234485626 +6418 613287 Charcot-Marie-Tooth disease, axonal, type 2N 0.06790811568498611 +6419 618977 Optic atrophy 12 0.06790771335363388 +6420 122100 Meesmann corneal dystrophy 1 0.06790705025196075 +6421 103420 Alacrima, congenital 0.06790347397327423 +6422 618184 Neuropathy, congenital hypomyelinating, 2 0.06787723302841187 +6423 300073 Fetal akinesia syndrome, X-linked 0.06787588447332382 +6424 617563 Orofaciodigital syndrome XVI 0.06786423176527023 +6425 619895 Holoprosencephaly 14 0.0678352415561676 +6426 620312 Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure 0.06781929731369019 +6427 148200 Keratoendotheliitis fugax hereditaria 0.06780343502759933 +6428 615493 Intellectual developmental disorder, autosomal recessive 37 0.06779921054840088 +6429 618763 Joubert syndrome 36 0.06778334081172943 +6430 607745 Seizures, benign familial infantile, 3 0.06778019666671753 +6431 616854 Even-Plus syndrome 0.06776483356952667 +6432 617807 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 0.06776081770658493 +6433 619373 Neurodevelopmental disorder with infantile epileptic spasms 0.06775806099176407 +6434 117210 Spinocerebellar ataxia 31 0.06774851679801941 +6435 619255 Baralle-Macken syndrome 0.06774267554283142 +6436 615510 Alacrima, achalasia, and mental retardation syndrome 0.06773508340120316 +6437 610283 Cone-Rod dystrophy 10 0.06772936880588531 +6438 616515 Deafness, autosomal recessive 104 0.06772155314683914 +6439 614650 Coenzyme Q10 deficiency, primary, 6 0.06770096719264984 +6440 614814 Adams-Oliver syndrome 3 0.06769180297851562 +6441 614607 Coffin-Siris syndrome 2 0.06769146770238876 +6442 612702 Hypogonadotropic hypogonadism 6 with or without anosmia 0.06768712401390076 +6443 236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 0.06768066436052322 +6444 618279 Charcot-Marie-Tooth disease, demyelinating, type 1G 0.06768055260181427 +6445 604093 Keratosis pilaris atrophicans 0.06767520308494568 +6446 609129 Auditory neuropathy, autosomal dominant, 1 0.06766680628061295 +6447 620148 Ichthyosis, annular epidermolytic 2 0.0676610991358757 +6448 616313 Myasthenic syndrome, congenital, 2A, slow-channel 0.06765711307525635 +6449 607903 Hypotrichosis 6 0.06765615195035934 +6450 620011 Spinal muscular atrophy, distal, autosomal recessive, 6 0.06765270233154297 +6451 616461 Epilepsy, familial temporal lobe, 8 0.06765212118625641 +6452 278720 Xeroderma pigmentosum, group C 0.06761720776557922 +6453 118700 Chorea, benign hereditary 0.06761270761489868 +6454 603543 Limb-Mammary syndrome 0.06760141998529434 +6455 600638 Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement 0.06758623570203781 +6456 186700 Syringomyelia, isolated 0.06757673621177673 +6457 101805 Acrofacial dysostosis, Catania type 0.06756240874528885 +6458 616602 Craniosynostosis 6 0.06756225228309631 +6459 609541 Spastic paraplegia, optic atrophy, and neuropathy 0.06754540652036667 +6460 218650 Craniosynostosis-Mental retardation-clefting syndrome 0.06754250824451447 +6461 609041 Spastic paraplegia 27, autosomal recessive 0.06754034012556076 +6462 615157 Mitochondrial complex III deficiency, nuclear type 2 0.067535899579525 +6463 615290 Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant 0.06753188371658325 +6464 620629 Optic atrophy 16 0.06752876192331314 +6465 619988 Intellectual developmental disorder, autosomal recessive 77 0.0675259456038475 +6466 611717 Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 0.06752047687768936 +6467 231550 Achalasia-Addisonianism-Alacrima syndrome 0.06750960648059845 +6468 617207 Encephalopathy, progressive, with amyotrophy and optic atrophy 0.06750833243131638 +6469 619228 Developmental delay with dysmorphic facies and dental anomalies 0.06749698519706726 +6470 620106 Spastic paraplegia 88, autosomal dominant 0.06748537719249725 +6471 604571 Bare lymphocyte syndrome, type I 0.06743721663951874 +6472 609304 Epileptic encephalopathy, early infantile, 3 0.06743131577968597 +6473 619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome 0.06741533428430557 +6474 610743 Spinocerebellar ataxia, autosomal recessive 8 0.0674000158905983 +6475 606170 Genitopatellar syndrome 0.06739351898431778 +6476 619304 Pontocerebellar hypoplasia, type 1F 0.06737329810857773 +6477 615872 Ciliary dyskinesia, primary, 29 0.06736960262060165 +6478 213600 Basal ganglia calcification, idiopathic, 1 0.06736377626657486 +6479 619146 Premature ovarian failure 17 0.06736108660697937 +6480 618086 Spermatogenic failure 28 0.06735450774431229 +6481 113620 Branchiooculofacial syndrome 0.06735247373580933 +6482 617271 Nephronophthisis 20 0.06734560430049896 +6483 215150 Otospondylomegaepiphyseal dysplasia 0.06732946634292603 +6484 620243 Leukodystrophy, hypomyelinating, 25 0.06730038672685623 +6485 602124 Dystonia 7, torsion 0.06727592647075653 +6486 618084 Peeling skin syndrome 6 0.06727106869220734 +6487 618142 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 0.06726496666669846 +6488 268020 Retinitis pigmentosa, deafness, mental retardation, and hypogonadism 0.06726019084453583 +6489 604360 Spastic paraplegia 11, autosomal recessive 0.06724874675273895 +6490 612138 Epidermolysis bullosa simplex with pyloric atresia 0.06724709272384644 +6491 613398 Warsaw breakage syndrome 0.06724052876234055 +6492 615030 Spastic paraplegia 56, autosomal recessive 0.0672270655632019 +6493 242670 Ciliary dyskinesia with defective radial spokes 0.06722162663936615 +6494 165550 Optic nerve hypoplasia 0.06720918416976929 +6495 608572 Burn-Mckeown syndrome 0.0671774223446846 +6496 618736 Structural brain anomalies with impaired intellectual development and craniosynostosis 0.067157082259655 +6497 612313 Glass syndrome 0.0671524703502655 +6498 614839 Hypogonadotropic hypogonadism 10 with or without anosmia 0.06713948398828506 +6499 615278 Cardiofaciocutaneous syndrome 2 0.06713435798883438 +6500 619775 Congenital disorder of deglycosylation 2 0.06713110953569412 +6501 613970 Intellectual developmental disorder, autosomal dominant 6, with or without seizures 0.06712842732667923 +6502 619466 Ciliary dyskinesia, primary, 47, and lissencephaly 0.0671267881989479 +6503 216800 Coloboma of macula and skeletal anomalies 0.06709645688533783 +6504 614750 Myasthenic syndrome, congenital, 13, with tubular aggregates 0.0670916885137558 +6505 605808 Birdshot chorioretinopathy 0.0670894980430603 +6506 265100 Pulmonary alveolar microlithiasis 0.06708140671253204 +6507 300979 Xq25 duplication syndrome 0.06706154346466064 +6508 619243 Global developmental delay with speech and behavioral abnormalities 0.06705252081155777 +6509 616335 Microcephaly and chorioretinopathy, autosomal recessive, 3 0.0670463964343071 +6510 300534 Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type 0.06702565401792526 +6511 615665 Joubert syndrome 22 0.06702038645744324 +6512 615530 Parkinson disease 20, early-onset 0.06701082736253738 +6513 137940 Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome 0.067009337246418 +6514 605355 Nemaline myopathy 5, Amish type 0.06700508296489716 +6515 615025 Charcot-Marie-Tooth disease, axonal, type 2Q 0.06695178151130676 +6516 616282 Spastic paraplegia 73, autosomal dominant 0.06693866103887558 +6517 225050 Ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliarydyskinesia 0.06692959368228912 +6518 608895 Macular degeneration, age-related, 3 0.06691940873861313 +6519 619548 Usmani-Riazuddin syndrome, autosomal recessive 0.0669185072183609 +6520 614563 Intellectual developmental disorder, autosomal dominant 13 0.06689625978469849 +6521 615681 Spastic paraplegia 62, autosomal recessive 0.06689124554395676 +6522 613811 Pontocerebellar hypoplasia, type 2D 0.06688866019248962 +6523 120200 Coloboma, ocular 0.06687599420547485 +6524 619690 Brunet-Wagner neurodevelopmental syndrome 0.06687447428703308 +6525 608644 Ciliary dyskinesia, primary, 3, with or without situs inversus 0.06684309244155884 +6526 614078 Chondrodysplasia with joint dislocations, Gpapp type 0.06679239869117737 +6527 613720 Epileptic encephalopathy, early infantile, 7 0.06678921729326248 +6528 620356 Ciliary dyskinesia, primary, 50 0.06678582727909088 +6529 200700 Acromesomelic dysplasia 2A 0.06678372621536255 +6530 615994 Bardet-Biedl syndrome 17 0.06678341329097748 +6531 162370 Neuropathy, congenital, with arthrogryposis multiplex 0.06677404046058655 +6532 618559 Epileptic encephalopathy, early infantile, 79 0.06676315516233444 +6533 155600 Melanoma, cutaneous malignant 0.06676212698221207 +6534 300700 Albinism-Deafness syndrome 0.06676153838634491 +6535 613722 Developmental and epileptic encephalopathy 12 0.06674748659133911 +6536 614744 Facial paresis, hereditary congenital, 3 0.06674733757972717 +6537 617798 Intellectual developmental disorder, autosomal dominant 53 0.06674525886774063 +6538 618283 Visual impairment and progressive phthisis bulbi 0.06674312055110931 +6539 620028 Developmental and epileptic encephalopathy 106 0.06673921644687653 +6540 156600 Microcoria, congenital 0.06673692166805267 +6541 617142 Aniridia 3 0.06673676520586014 +6542 115900 Cataract 42 0.0667351558804512 +6543 136900 Sorsby fundus dystrophy 0.06673453003168106 +6544 618872 Nizon-Isidor syndrome 0.06673437356948853 +6545 601042 Dystonia 9 0.06673318892717361 +6546 613981 Hypotrichosis 3 0.06673262268304825 +6547 125640 DERMOODONTODYSPLASIA 0.0667295753955841 +6548 614565 Night blindness, congenital stationary, type 1E 0.06672810018062592 +6549 614370 Surfactant metabolism dysfunction, pulmonary, 5 0.06672760844230652 +6550 600790 Chorioretinal atrophy, progressive bifocal 0.06672614067792892 +6551 153700 Macular dystrophy, vitelliform, 2 0.06672608107328415 +6552 180550 Ring dermoid of cornea 0.06672592461109161 +6553 164100 Nystagmus 2, congenital, autosomal dominant 0.06672558933496475 +6554 613758 Retinitis pigmentosa 47 0.06672453880310059 +6555 107250 Anterior segment dysgenesis 1 0.06672403216362 +6556 613767 Retinitis pigmentosa 45 0.06672398000955582 +6557 153840 Macular dystrophy, vitelliform, 1 0.06672299653291702 +6558 615281 Hypomyelination with brainstem and spinal cord involvement and legspasticity 0.06672277301549911 +6559 604232 Leber congenital amaurosis-3 (LCA3)/Retinitis pigmentosa, juvenile, autosomal recessive 0.06672266870737076 +6560 615972 Nanophthalmos 4 0.06672175973653793 +6561 251800 Microtia with meatal atresia and conductive deafness 0.06672023236751556 +6562 613000 Palmoplantar keratoderma, nonepidermolytic, focal 1 0.06671930849552155 +6563 611572 Otosclerosis 7 0.06671928614377975 +6564 619977 Macular dystrophy, retinal, 4 0.06671854853630066 +6565 605827 Basaloid follicular hamartoma syndrome, generalized, autosomal dominant 0.06671783328056335 +6566 612868 Corneal dystrophy, posterior amorphous 0.06671752035617828 +6567 124500 Vohwinkel syndrome 0.06671739369630814 +6568 601553 Hypotrichosis, congenital, with juvenile macular dystrophy 0.06671658903360367 +6569 605750 Exudative vitreoretinopathy 3 0.06671635061502457 +6570 310700 Nystagmus 1, congenital, X-linked 0.06671619415283203 +6571 619082 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 0.06671490520238876 +6572 615721 Renal hypodysplasia/aplasia 2 0.06671447306871414 +6573 136550 Macular dystrophy, retinal, 1, north Carolina type 0.06671428680419922 +6574 193230 Snowflake vitreoretinal degeneration 0.06671413034200668 +6575 616760 Woolly hair, autosomal recessive 3 0.0667136162519455 +6576 616975 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0.06671319156885147 +6577 217400 Corneal endothelial dystrophy and perceptive deafness 0.066712886095047 +6578 619804 Deafness, autosomal dominant 82 0.06671236455440521 +6579 616428 Microphthalmia, isolated, with coloboma 10 0.06671042740345001 +6580 618275 Hypotrichosis 14 0.06670964509248734 +6581 301020 Mitochondrial complex I deficiency, nuclear type 12 0.06670717895030975 +6582 604117 Vohwinkel syndrome, variant form 0.06670664250850677 +6583 601331 Renal dysplasia, cystic, susceptibility to 0.06670583039522171 +6584 616151 Macular dystrophy, vitelliform, 4 0.06670529395341873 +6585 608389 Branchiootic syndrome 3 0.06670476496219635 +6586 618333 Menke-Hennekam syndrome 2 0.06670283526182175 +6587 278730 Xeroderma pigmentosum, complementation group D 0.06670036911964417 +6588 203655 Alopecia universalis congenita 0.06670011579990387 +6589 119300 van der Woude syndrome 1 0.06669775396585464 +6590 611548 Premature ovarian failure 5 0.06669722497463226 +6591 618110 Spermatogenic failure 30 0.06669707596302032 +6592 619263 Nephrotic syndrome, type 24 0.06669483333826065 +6593 618664 Spermatogenic failure 40 0.0666944831609726 +6594 301106 Spermatogenic failure, X-linked, 7 0.066693514585495 +6595 619144 Spermatogenic failure 49 0.0666932687163353 +6596 617592 Spermatogenic failure 19 0.0666932687163353 +6597 620353 Spermatogenic failure 82 0.0666932687163353 +6598 620490 Spermatogenic failure 85 0.06669323146343231 +6599 618341 Spermatogenic failure 35 0.06669314950704575 +6600 617960 Spermatogenic failure 25 0.06669314950704575 +6601 619143 Cardioacrofacial dysplasia 2 0.0666871964931488 +6602 300952 Linear skin defects with multiple congenital anomalies 3 0.06667488813400269 +6603 605407 Segawa syndrome, autosomal recessive 0.0666704773902893 +6604 617023 Retinitis pigmentosa 75 0.0666479617357254 +6605 618220 Retinitis pigmentosa 84 0.0666426345705986 +6606 620102 Retinitis pigmentosa 95 0.06663302332162857 +6607 600624 Cone-Rod dystrophy 1 0.0666225254535675 +6608 618381 Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 0.0666169673204422 +6609 268650 Rudiger syndrome 0.06660913676023483 +6610 618672 Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 0.0665973499417305 +6611 234030 Hair defect with photosensitivity and mental retardation 0.06658973544836044 +6612 613192 Intellectual developmental disorder, autosomal recessive 13 0.06658773124217987 +6613 619031 Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies 0.06657686084508896 +6614 615656 Chromosome 15q11.2 deletion syndrome 0.06657260656356812 +6615 125400 Dentin dysplasia, type I, with microdontia and misshapen teeth 0.06655925512313843 +6616 236500 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 0.06653743237257004 +6617 256520 Neu-Laxova syndrome 1 0.06653650850057602 +6618 616579 Intellectual developmental disorder, autosomal dominant 40 0.06650426983833313 +6619 608029 Spinocerebellar ataxia, autosomal recessive 6 0.0664953961968422 +6620 617924 Epilepsy, juvenile myoclonic, susceptibility to, 10 0.06648761034011841 +6621 610532 Leukodystrophy, hypomyelinating, 5 0.06648463010787964 +6622 613638 Chromosome 19p13.13 deletion syndrome 0.06646309792995453 +6623 613193 Ciliary dyskinesia, primary, 13 0.06645127385854721 +6624 300580 Myopathy, congenital, with fiber-type disproportion, X-linked 0.06643243134021759 +6625 616645 Epileptic encephalopathy, early infantile, 34 0.06643138825893402 +6626 157900 Moebius syndrome 0.06642177700996399 +6627 614153 Spinocerebellar ataxia 36 0.06642162054777145 +6628 620311 Premature ovarian failure 21 0.06642144918441772 +6629 619234 Short stature, oligodontia, dysmorphic facies, and motor delay 0.0664108544588089 +6630 259780 Otoonychoperoneal syndrome 0.06638345867395401 +6631 118300 Charcot-Marie-Tooth disease and deafness 0.0663711205124855 +6632 617781 Retinitis pigmentosa 80 0.06636551767587662 +6633 608980 Bifid nose with or without anorectal and renal anomalies 0.06635598093271255 +6634 213980 Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 0.06632748246192932 +6635 616421 Myoclonic-atonic epilepsy 0.06631431728601456 +6636 618635 Siddiqi syndrome 0.0663105845451355 +6637 615005 Epilepsy, nocturnal frontal lobe, 5 0.06630206108093262 +6638 309560 Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis 0.06627536565065384 +6639 104290 Alternating hemiplegia of childhood 1 0.06627129018306732 +6640 617836 Developmental delay and seizures with or without movement abnormalities 0.06626736372709274 +6641 256200 Nephrosis with deafness and urinary tract and digital malformations 0.06624960899353027 +6642 616187 Epilepsy, progressive myoclonic 7 0.0662463828921318 +6643 600059 Retinitis pigmentosa 13 0.06623397767543793 +6644 618578 Myopathy, congenital, progressive, with scoliosis 0.06622127443552017 +6645 161400 Narcolepsy 1 0.0662059634923935 +6646 615685 Spastic paraplegia 61, autosomal recessive 0.06617981940507889 +6647 617391 Epileptic encephalopathy, early infantile, 54 0.06617647409439087 +6648 619052 Mitochondrial complex IV deficiency, nuclear type 8 0.06616489589214325 +6649 248000 Macrocephaly/megalencephaly syndrome, autosomal recessive 0.06614955514669418 +6650 114550 Hepatocellular carcinoma 0.06613537669181824 +6651 613750 Retinitis pigmentosa 27 0.0661260113120079 +6652 247990 Macdermot-Winter syndrome 0.06611859053373337 +6653 614504 Usher syndrome, type IIIB 0.06610885262489319 +6654 616300 Short-Rib thoracic dysplasia 13 with or without polydactyly 0.06609872728586197 +6655 616411 Dystonia 27 0.06608519703149796 +6656 615777 Desbuquois dysplasia 2 0.0660792887210846 +6657 616549 Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism 0.06606236845254898 +6658 617756 Erythrokeratodermia variabilis et progressiva 5 0.06603863835334778 +6659 616708 Desanto-Shinawi syndrome 0.06603839248418808 +6660 263750 Postaxial acrofacial dysostosis 0.06602894514799118 +6661 615191 Lissencephaly 5 0.066019207239151 +6662 158350 Cowden syndrome 1 0.06600512564182281 +6663 609270 Spinocerebellar ataxia, autosomal recessive 7 0.06598100066184998 +6664 301830 Spinal muscular atrophy, X-linked 2 0.06595925986766815 +6665 601104 Supranuclear palsy, progressive, 1 0.06594598293304443 +6666 617133 Spinocerebellar ataxia, autosomal recessive 24 0.06594011187553406 +6667 618088 Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0.06593803316354752 +6668 615539 Ehlers-Danlos syndrome, musculocontractural type, 2 0.06592486053705215 +6669 102370 Acromicric dysplasia 0.06592313945293427 +6670 613406 Witteveen-Kolk syndrome 0.0659186989068985 +6671 613908 Spinocerebellar ataxia 35 0.06590822339057922 +6672 615842 Spermatogenic failure 14 0.06589280068874359 +6673 619964 Developmental delay, impaired speech, and behavioral abnormalities 0.06588438898324966 +6674 616894 Robinow syndrome, autosomal dominant 3 0.06587039679288864 +6675 616849 Brachydactyly, type A1, D 0.06585614383220673 +6676 300915 Microphthalmia, syndromic 13 0.0658542588353157 +6677 614039 Cortical dysplasia, complex, with other brain malformations 1 0.06584721058607101 +6678 616108 Retinal dystrophy, juvenile cataracts, and short stature syndrome 0.0658421665430069 +6679 612079 Alopecia, neurologic defects, and endocrinopathy syndrome 0.06583858281373978 +6680 610127 Ceroid lipofuscinosis, neuronal, 10 0.06583653390407562 +6681 619621 Spastic paraplegia 84, autosomal recessive 0.0658121183514595 +6682 614381 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 0.06581179797649384 +6683 617542 Gaze palsy, familial horizontal, with progressive scoliosis, 2 0.06580135226249695 +6684 602066 Convulsions, familial infantile, with paroxysmal choreoathetosis 0.06577400863170624 +6685 616736 Tremor, hereditary essential, 5 0.06577350199222565 +6686 619972 Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy 0.06577344238758087 +6687 608615 Oligodontia-colorectal cancer syndrome 0.06575234234333038 +6688 618876 Epilepsy, progressive myoclonic, 11 0.06574781239032745 +6689 614255 NESCAV syndrome 0.06574440747499466 +6690 204870 Corneal dystrophy, gelatinous drop-like 0.06574367731809616 +6691 609913 Retinitis pigmentosa 32 0.06573989242315292 +6692 602772 Retinitis pigmentosa 25 0.06573802977800369 +6693 617046 Spastic paraplegia 77, autosomal recessive 0.0657338798046112 +6694 617169 Intellectual developmental disorder, autosomal recessive 74 0.06573288887739182 +6695 609634 Migraine, familial hemiplegic, 3 0.06573058664798737 +6696 610427 Cone-Rod synaptic disorder, congenital nonprogressive 0.06572993844747543 +6697 608194 Cone-rod dystrophy 13 0.06572915613651276 +6698 606952 Albinism, oculocutaneous, type IB 0.06572841852903366 +6699 180020 Retinal cone dystrophy 1 0.06572834402322769 +6700 113750 Albinism, oculocutaneous, type VI 0.06572724878787994 +6701 617024 Night blindness, congenital stationary, type 1H 0.0657268613576889 +6702 610478 Retinal cone dystrophy 4 0.06572683155536652 +6703 610381 Cone-Rod dystrophy 11 0.06572512537240982 +6704 600906 Ectodermal dysplasia with mental retardation and syndactyly 0.06572402268648148 +6705 122400 Epithelial recurrent erosion dystrophy 0.06572331488132477 +6706 620444 Craniofacial microsomia 2 0.06570357084274292 +6707 614898 Spastic paraplegia 53, autosomal recessive 0.06569667905569077 +6708 162400 Neuropathy, hereditary sensory and autonomic, type IA 0.06568171083927155 +6709 123500 Crouzon syndrome 0.06567894667387009 +6710 609529 Immunoglobulin A deficiency 2 0.0656580850481987 +6711 608227 Craniofacial abnormalities, cataracts, congenital heart disease, sacralneural tube defects, and growth and developmental retardation 0.06565409898757935 +6712 616685 Epilepsy, idiopathic generalized, susceptibility to, 14 0.06564917415380478 +6713 606220 Intellectual developmental disorder with short stature, facial anomalies, and speech defects 0.0656479150056839 +6714 173650 Kindler syndrome 0.06562475115060806 +6715 300510 Ovarian dysgenesis 2 0.0656210407614708 +6716 618644 Osteogenesis imperfecta, type XX 0.06560401618480682 +6717 234580 Heimler syndrome 1 0.06560245901346207 +6718 609161 Striatal degeneration, autosomal dominant 0.0655987486243248 +6719 611092 Intellectual developmental disorder, autosomal recessive 6 0.06553637981414795 +6720 229200 Brittle cornea syndrome 0.06551970541477203 +6721 613721 Epileptic encephalopathy, early infantile, 11 0.06551756709814072 +6722 620174 Spinocerebellar ataxia 27B, late-onset 0.0654943585395813 +6723 604321 Microcephaly 4, primary, autosomal recessive 0.06549234688282013 +6724 616540 Epilepsy, progressive myoclonic, 9 0.06547587364912033 +6725 229070 Hypogonadotropic hypogonadism 24 without anosmia 0.06545667350292206 +6726 615425 Epidermolysis bullosa simplex, autosomal recessive 2 0.06541256606578827 +6727 278800 De Sanctis-Cacchione syndrome 0.06540489196777344 +6728 614583 Baraitser-Winter syndrome 2 0.06540260463953018 +6729 165300 Optic atrophy 3, autosomal dominant 0.06539130955934525 +6730 269500 Sclerosteosis 1 0.06537781655788422 +6731 615024 Ichthyosis, congenital, autosomal recessive 10 0.06535716354846954 +6732 618221 Mental retardation, autosomal recessive 66 0.06534843891859055 +6733 619436 Ciliary dyskinesia, primary, 46 0.06533697247505188 +6734 615155 Steel syndrome 0.06533398479223251 +6735 617900 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 0.065325528383255 +6736 108300 Stickler syndrome, type I 0.06532043218612671 +6737 108650 Spastic ataxia 7, autosomal dominant 0.06531870365142822 +6738 614284 Stickler syndrome, type V 0.0653042420744896 +6739 619452 Anencephaly 2 0.06530188024044037 +6740 619661 Leukoencephalopathy, hereditary diffuse, with spheroids 2 0.06527755409479141 +6741 612885 Premature ovarian failure 10 0.065261609852314 +6742 615723 Premature ovarian failure 8 0.06525307893753052 +6743 616901 Developmental delay with short stature, dysmorphic features, and sparse hair 0.06523656100034714 +6744 615849 Culler-Jones syndrome 0.06520695984363556 +6745 218400 Craniometaphyseal dysplasia, autosomal recessive 0.06520145386457443 +6746 618841 Hypogonadotropic hypogonadism 25 with anosmia 0.06519486755132675 +6747 277730 Wernicke-Korsakoff syndrome 0.0651841089129448 +6748 609057 Nephropathy with pretibial epidermolysis bullosa and deafness 0.06518237292766571 +6749 618800 Spinocerebellar ataxia, autosomal recessive 28 0.06517395377159119 +6750 617011 Macrocephaly, dysmorphic facies, and psychomotor retardation 0.06516493856906891 +6751 614464 Joubert syndrome 15 0.06515850126743317 +6752 616840 Parkinson disease 23, autosomal recessive early-onset 0.06515596807003021 +6753 618316 Intellectual developmental disorder with cardiac defects and dysmorphic facies 0.06515087187290192 +6754 620482 Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development 0.06514782458543777 +6755 617120 Joubert syndrome 27 0.06512604653835297 +6756 608257 Mandibulofacial dysostosis with ptosis, autosomal dominant 0.06509783118963242 +6757 619016 Ichthyosis, follicular, with atrichia and photophobia syndrome 2 0.06508739292621613 +6758 604403 Generalized epilepsy with febrile seizures plus, type 2 0.06507739424705505 +6759 600627 Hypertryptophanemia 0.06505715101957321 +6760 620314 Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure 0.06504616886377335 +6761 158320 Muir-Torre syndrome 0.06503494083881378 +6762 617100 Familial adenomatous polyposis 4 0.06503415107727051 +6763 604391 Ataxia-telangiectasia-like disorder 1 0.06502105295658112 +6764 248450 Manitoba oculotrichoanal syndrome 0.06501822173595428 +6765 613884 Chromosome 13q14 deletion syndrome 0.06501752138137817 +6766 619995 Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies 0.06501185894012451 +6767 200990 Acrocallosal syndrome 0.06501171737909317 +6768 616907 Spastic paraplegia 76, autosomal recessive 0.06501130759716034 +6769 614500 Cone-Rod dystrophy 16 0.06500040739774704 +6770 614113 Mental retardation, autosomal dominant 2 0.06496846675872803 +6771 617682 Pilarowski-Bjornsson syndrome 0.06495187431573868 +6772 615034 Dystonia 24 0.06490384787321091 +6773 601680 Arthrogryposis, distal, type 2B 0.06488651782274246 +6774 169100 Char syndrome 0.06486668437719345 +6775 600361 Hereditary motor and sensory neuropathy V 0.06485289335250854 +6776 617180 Chitayat syndrome 0.06484650075435638 +6777 601338 Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 0.0648454949259758 +6778 227260 Focal facial dermal dysplasia 3, Setleis type 0.06482367217540741 +6779 300475 Deafness, dystonia, and cerebral hypomyelination 0.06480895727872849 +6780 301008 Mental retardation, X-linked, syndromic, Houge type 0.06480696052312851 +6781 610353 Epilepsy, nocturnal frontal lobe, 4 0.06480167806148529 +6782 618425 Neurodevelopmental disorder with impaired speech and hyperkinetic movements 0.06479833275079727 +6783 272460 Spondylocarpotarsal synostosis syndrome 0.06475307047367096 +6784 618106 Intellectual developmental disorder, autosomal dominant 58 0.06474406272172928 +6785 251280 Microcephaly, seizures, spasticity, and brain calcifications 0.06473841518163681 +6786 248190 Hypomagnesemia 5, renal, with or without ocular involvement 0.06473677605390549 +6787 300850 Mental retardation, X-linked 90 0.0647289827466011 +6788 610805 Congenital anomalies of kidney and urinary tract, susceptibility to 0.06470043212175369 +6789 180750 Robinow-Sorauf syndrome 0.06469712406396866 +6790 601718 Retinitis pigmentosa 19 0.06469184160232544 +6791 613810 Retinitis pigmentosa 43 0.0646902546286583 +6792 615922 Retinitis pigmentosa 70 0.06468580663204193 +6793 614181 Retinitis pigmentosa 62 0.06468556821346283 +6794 613617 Retinitis pigmentosa 58 0.06468485295772552 +6795 225500 Ellis-Van creveld syndrome 0.06467887759208679 +6796 600775 Craniosynostosis 4 0.0646730288863182 +6797 607060 Parkinson disease 8, autosomal dominant 0.06465298682451248 +6798 619339 Popliteal pterygium syndrome, Bartsocas-Papas type 2 0.06464798748493195 +6799 620111 Charcot-Marie-Tooth disease, demyelinating, type 1J 0.06463903188705444 +6800 616258 Meckel syndrome 12 0.06462742388248444 +6801 129550 Ectodermal dysplasia with adrenal cyst 0.06461445242166519 +6802 615451 Ciliary dyskinesia, primary, 23 0.06460388749837875 +6803 609306 Spinocerebellar ataxia 26 0.06460092961788177 +6804 615896 Hypotrichosis 13 0.06458520889282227 +6805 158580 Neuronopathy, distal hereditary motor, type VIIA 0.06458267569541931 +6806 613216 Night blindness, congenital stationary (complete), 1C, autosomal recessive 0.06458119302988052 +6807 604537 Leber congenital amaurosis 5 0.06457696855068207 +6808 126800 Duane retraction syndrome 1 0.06457653641700745 +6809 257270 Night blindness, congenital stationary, type 1B 0.06457547098398209 +6810 619786 Epidermolysis bullosa, junctional 3B, severe 0.06457486003637314 +6811 616487 Epidermolysis bullosa simplex with nail dystrophy 0.06457477807998657 +6812 613310 Exudative vitreoretinopathy 5 0.06457404047250748 +6813 132000 Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails 0.06457366049289703 +6814 119580 Blepharocheilodontic syndrome 1 0.06457355618476868 +6815 615725 Retinitis pigmentosa 68 0.0645735040307045 +6816 617717 Auditory neuropathy and optic atrophy 0.06457284837961197 +6817 606574 Albinism, oculocutaneous, type IV 0.06457261741161346 +6818 300071 Night blindness, congenital stationary, type 2A 0.06457246840000153 +6819 131900 Epidermolysis bullosa simplex 1B, generalized intermediate 0.06457200646400452 +6820 619614 Retinitis pigmentosa 92 0.06457167863845825 +6821 620415 Woolly hair-skin fragility syndrome 0.06457147002220154 +6822 613517 Microphthalmia, isolated 6 0.06456853449344635 +6823 161050 Nail disorder, nonsyndromic congenital, 1 0.06456711888313293 +6824 618415 Cataract 48 0.06456639617681503 +6825 225200 Ectopia lentis et pupillae 0.06456612050533295 +6826 617572 Exudative vitreoretinopathy 7 0.06456604599952698 +6827 619784 Epidermolysis bullosa, junctional 2B, severe 0.06456600874662399 +6828 619887 Renal hypodysplasia/aplasia 4 0.06456420570611954 +6829 614840 Hypogonadotropic hypogonadism 11 with or without anosmia 0.06456408649682999 +6830 241850 Bamforth-Lazarus syndrome 0.06456367671489716 +6831 608051 Macular dystrophy, retinal, 2 0.06456343084573746 +6832 619845 Retinitis pigmentosa 93 0.06456205993890762 +6833 617141 Aniridia 2 0.06456181406974792 +6834 146550 Marie unna hereditary hypotrichosis 1 0.06456024199724197 +6835 121820 Corneal dystrophy, epithelial basement membrane 0.06455972045660019 +6836 608970 Macular dystrophy, butterfly-shaped pigmentary, 2 0.06455850601196289 +6837 616948 Spinocerebellar ataxia, autosomal recessive 22 0.0645555704832077 +6838 617565 Perrault syndrome 6 0.06455515325069427 +6839 616950 Spermatogenic failure 15 0.06455353647470474 +6840 606713 Van der woude syndrome 2 0.06455104053020477 +6841 311000 Ophthalmoplegia, external, and myopia 0.0645495057106018 +6842 611377 Brachydactyly, type B2 0.06454913318157196 +6843 256370 Nephrotic syndrome, type 4 0.06454730033874512 +6844 607017 Deafness, autosomal dominant 21 0.06454726308584213 +6845 618745 Spermatogenic failure 42 0.06454388052225113 +6846 615294 Ciliary dyskinesia, primary, 21 0.06454388052225113 +6847 620222 Spermatogenic failure 80 0.064543217420578 +6848 620084 Spermatogenic failure 76 0.064543217420578 +6849 619585 Spermatogenic failure 58 0.06454310566186905 +6850 617576 Spermatogenic failure 18 0.06454289704561234 +6851 618152 Spermatogenic failure 33 0.06454289704561234 +6852 619095 Spermatogenic failure 46 0.06454289704561234 +6853 618429 Spermatogenic failure 37 0.06454289704561234 +6854 617965 Spermatogenic failure 27 0.06454282999038696 +6855 300166 Microphthalmia, syndromic 2 0.06453931331634521 +6856 613102 Hypotrichosis and recurrent skin vesicles 0.06453406810760498 +6857 619122 Vertebral hypersegmentation and orofacial anomalies 0.06453166902065277 +6858 614937 Myoclonus, familial cortical 0.06453055888414383 +6859 619334 Arthrogryposis multiplex congenita 6 0.06452171504497528 +6860 614706 Ceroid lipofuscinosis, neuronal, 11 0.06451869010925293 +6861 619314 Buratti-Harel syndrome 0.06447993963956833 +6862 620009 Keratoderma-ichthyosis-deafness syndrome, autosomal recessive 0.06447487324476242 +6863 611603 Lissencephaly 3 0.06447236984968185 +6864 270750 Spastic paraplegia 23 0.06446066498756409 +6865 611638 Microphthalmia, isolated, with coloboma 5 0.06442610919475555 +6866 609033 Ataxia, posterior column, with retinitis pigmentosa 0.0644238218665123 +6867 154400 Acrofacial dysostosis 1, Nager type 0.06440761685371399 +6868 227010 Ermine phenotype 0.06435127556324005 +6869 617584 Spinocerebellar ataxia, autosomal recessive 25 0.06434738636016846 +6870 609441 Acromesomelic dysplasia, Demirhan type 0.06434109061956406 +6871 617641 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 0.06431126594543457 +6872 270700 Spastic paraplegia 15, autosomal recessive 0.06428353488445282 +6873 619216 Neuropathy, hereditary motor, with myopathic features 0.06426454335451126 +6874 616154 Peroxisomal fatty acyl-CoA reductase 1 disorder 0.06424110382795334 +6875 204690 Amelogenesis imperfecta, type IG (enamel-renal syndrome) 0.06423761695623398 +6876 616784 Joubert syndrome 26 0.0642360970377922 +6877 611812 46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs 0.064232237637043 +6878 606595 Charcot-Marie-Tooth disease, axonal, type 2F 0.06421208381652832 +6879 614198 Myasthenic syndrome, congenital, 16 0.06418481469154358 +6880 618878 Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome 0.06417769193649292 +6881 617929 Epileptic encephalopathy, early infantile, 60 0.06413103640079498 +6882 272750 GM2-gangliosidosis, AB variant 0.06412649899721146 +6883 616586 Spastic paraplegia 9B, autosomal recessive 0.06410786509513855 +6884 612951 Leukoencephalopathy, cystic, without megalencephaly 0.06408791244029999 +6885 226750 Kohlschutter-Tonz syndrome 0.0640665665268898 +6886 619859 Phosphoribosylaminoimidazole carboxylase deficiency 0.06403538584709167 +6887 619303 Pontocerebellar hypoplasia, type 1E 0.06402503699064255 +6888 608636 Chromosome 15q11-q13 duplication syndrome 0.06398577988147736 +6889 614881 Spinal muscular atrophy, distal, autosomal recessive, 5 0.06398574262857437 +6890 619091 Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive 0.06398377567529678 +6891 615127 Epilepsy, familial adult myoclonic, 4 0.06396844238042831 +6892 614751 Neuronopathy, distal hereditary motor, type VB 0.06395498663187027 +6893 122880 Craniofacial-deafness-hand syndrome 0.06393487751483917 +6894 119800 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 0.06392773240804672 +6895 615481 Ciliary dyskinesia, primary, 24 0.06392268091440201 +6896 615706 Auriculocondylar syndrome 3 0.06389499455690384 +6897 123400 Creutzfeldt-Jakob disease 0.06389257311820984 +6898 601631 Anterior segment dysgenesis 3 0.06386575847864151 +6899 616172 Generalized epilepsy with febrile seizures plus, type 9 0.0638655424118042 +6900 607313 Gaze palsy, familial horizontal, with progressive scoliosis, 1 0.06386063247919083 +6901 617460 Retinitis pigmentosa 79 0.06385750323534012 +6902 612691 Polymicrogyria, bilateral temporooccipital 0.06384178251028061 +6903 300998 Mental retardation, X-linked, syndromic, 35 0.06383606791496277 +6904 619191 Epilepsy, progressive myoclonic, 12 0.06383053213357925 +6905 617927 Orofaciodigital syndrome XVIII 0.06382417678833008 +6906 612649 Ciliary dyskinesia, primary, 11 0.06381888687610626 +6907 258850 Orofaciodigital syndrome III 0.06380099803209305 +6908 609166 Branchiogenic-deafness syndrome 0.06378136575222015 +6909 254800 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 0.06376871466636658 +6910 108120 Arthrogryposis, distal, type 1A 0.063753142952919 +6911 616944 Mental retardation, autosomal dominant 41 0.06373666226863861 +6912 614684 Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes 0.06371670216321945 +6913 619072 Neurodevelopmental disorder with seizures and brain atrophy 0.0637112557888031 +6914 616413 Basal ganglia calcification, idiopathic, 6 0.06370830535888672 +6915 611252 Spastic paraplegia 32, autosomal recessive 0.06370431184768677 +6916 617904 Epileptic encephalopathy, early infantile, 59 0.06368193030357361 +6917 613829 Leber congenital amaurosis 7 0.06367489695549011 +6918 300650 Albinism, ocular, with late-onset sensorineural deafness 0.06367456912994385 +6919 600977 Cone-Rod dystrophy 5 0.06367304921150208 +6920 616079 Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities 0.06367228925228119 +6921 615179 Albinism, oculocutaneous, type V 0.06366750597953796 +6922 300500 Albinism, ocular, type I 0.06366689503192902 +6923 619764 Charcot-Marie-Tooth disease, demyelinating, type 1H 0.06366585195064545 +6924 616517 Achromatopsia 7 0.06366574764251709 +6925 619557 SIMHA syndrome 0.0636419951915741 +6926 618195 Intellectual developmental disorder and retinitis pigmentosa 0.06363019347190857 +6927 182980 Spinal muscular atrophy, late-onset, Finkel type 0.06359231472015381 +6928 311200 Orofaciodigital syndrome I 0.0635867565870285 +6929 601068 Epilepsy, familial adult myoclonic, 1 0.06357870995998383 +6930 606763 Ciliary dyskinesia, primary, 2 0.06357298046350479 +6931 618298 Developmental and epileptic encephalopathy 70 0.06354150921106339 +6932 265000 Escobar syndrome 0.06352223455905914 +6933 619333 Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 0.06349853426218033 +6934 616726 Ciliary dyskinesia, primary, 33 0.06349051743745804 +6935 614575 Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 0.06347675621509552 +6936 251230 Microcephaly-micromelia syndrome 0.06343188136816025 +6937 617270 Mental retardation, autosomal recessive 58 0.06340997666120529 +6938 617384 Hyperphenylalaninemia, MILD, non-bh4-deficient 0.06340513378381729 +6939 225280 Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 0.0633835643529892 +6940 620192 Lacrimoauriculodentodigital syndrome-2 0.06337768584489822 +6941 131750 Epidermolysis bullosa dystrophica, autosomal dominant 0.06337185204029083 +6942 615663 Warburg micro syndrome 4 0.06336421519517899 +6943 182875 Speech development, delayed, with facial asymmetry, strabismus, andtransverse earlobe crease 0.06335651874542236 +6944 109400 Basal cell nevus syndrome 0.06335434317588806 +6945 610125 Microphthalmia, syndromic 5 0.06334449350833893 +6946 617360 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0.06331931054592133 +6947 612650 Ciliary dyskinesia, primary, 12 0.06330549716949463 +6948 252100 Mohr syndrome 0.06329010426998138 +6949 300257 Danon disease 0.06328766793012619 +6950 603516 Spinocerebellar ataxia 10 0.06328535825014114 +6951 300559 Muscle glycogenosis, X-linked 0.06328236311674118 +6952 619203 Premature ovarian failure 18 0.06328068673610687 +6953 617188 Mental retardation, autosomal recessive 57 0.06327502429485321 +6954 615560 Otofaciocervical syndrome 2 0.06322599202394485 +6955 619476 Joubert syndrome 38 0.0632224977016449 +6956 618285 Developmental and epileptic encephalopathy 69 0.06319611519575119 +6957 615504 Ciliary dyskinesia, primary, 27 0.06319224834442139 +6958 619323 Neurodevelopmental disorder with seizures and gingival overgrowth 0.0631905347108841 +6959 617935 Epilepsy, familial focal, with variable foci 4 0.063175730407238 +6960 618677 Cortical dysplasia, complex, with other brain malformations 10 0.06316915899515152 +6961 605021 Myoclonic epilepsy, familial infantile 0.06316100805997849 +6962 614228 Charcot-marie-tooth disease, axonal, type 2O 0.06315866857767105 +6963 601345 Ectodermal dysplasia with natal teeth, Turnpenny type 0.06314317882061005 +6964 615505 Ciliary dyskinesia, primary, 28 0.06313782185316086 +6965 114300 Arthrogryposis, distal, type 3 0.0631302148103714 +6966 175100 Adenomatous polyposis coli 0.06310783326625824 +6967 614920 Peroxisome biogenesis disorder 14B 0.06309874355792999 +6968 619389 Spinocerebellar ataxia, autosomal recessive 29 0.06306429952383041 +6969 619787 Epidermolysis bullosa, junctional 4, intermediate 0.06305579096078873 +6970 619735 Spastic paraplegia 86, autosomal recessive 0.0630408376455307 +6971 618695 Ciliary dyskinesia, primary, 42 0.06303299218416214 +6972 614327 Tumor predisposition syndrome 0.06301286071538925 +6973 271700 Spondyloperipheral dysplasia 0.0629885122179985 +6974 133780 Exudative vitreoretinopathy 1 0.06297106295824051 +6975 619279 Parkinsonism with polyneuropathy 0.06297075748443604 +6976 613707 Leopard syndrome 3 0.06296409666538239 +6977 601472 Charcot-Marie-Tooth disease, axonal, type 2D 0.06294466555118561 +6978 210745 Blepharophimosis with ptosis, syndactyly, and short stature 0.06294312328100204 +6979 610442 Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 0.06293975561857224 +6980 609446 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 0.06292116641998291 +6981 617127 Orofaciodigital syndrome XV 0.06291187554597855 +6982 300960 Mend syndrome 0.06290331482887268 +6983 618792 Epileptic encephalopathy, early infantile, 84 0.06289961189031601 +6984 611945 Spastic paraplegia 37, autosomal dominant 0.06289339065551758 +6985 600105 Retinitis pigmentosa 12 0.06284182518720627 +6986 609460 Goldberg-Shprintzen syndrome 0.06283427774906158 +6987 615768 Spinocerebellar ataxia, autosomal recessive 16 0.06282883882522583 +6988 618027 Coffin-Siris syndrome 7 0.06282199919223785 +6989 618688 Leukodystrophy, hypomyelinating, 19, transient infantile 0.06281466037034988 +6990 616816 Hypotonia, infantile, with psychomotor retardation 0.06281271576881409 +6991 615744 Epileptic encephalopathy, early infantile, 19 0.06280948966741562 +6992 616366 Epileptic encephalopathy, early infantile, 32 0.06280817091464996 +6993 610246 Spinocerebellar ataxia 28 0.06279809027910233 +6994 203450 Alexander disease 0.06279034912586212 +6995 612953 Parkinson disease 14, autosomal recessive 0.06278254091739655 +6996 619950 Tessadori-van Haaften neurodevelopmental syndrome 3 0.06277774274349213 +6997 191100 Tuberous sclerosis-1 0.06276744604110718 +6998 612438 Leukodystrophy, hypomyelinating, 6 0.06273535639047623 +6999 207410 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 0.062725730240345 +7000 618770 Spastic paraplegia 82, autosomal recessive 0.0626930221915245 +7001 618402 Intellectual developmental disorder, autosomal recessive 70 0.06269299983978271 +7002 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 0.06269145011901855 +7003 605909 Parkinson disease 6, autosomal recessive early-onset 0.06268248707056046 +7004 620227 Deafness, autosomal dominant 85 0.06267969310283661 +7005 212360 Palmoplantar keratoderma and congenital alopecia 2 0.06263533234596252 +7006 615905 Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta 0.06262171268463135 +7007 604432 Spinocerebellar ataxia 11 0.06256967037916183 +7008 607936 Peeling skin syndrome 4 0.0625602975487709 +7009 609021 Peripheral cone dystrophy 0.0625600665807724 +7010 276902 Usher syndrome, type IIIA 0.06255800276994705 +7011 615058 Night blindness, congenital stationary, type 1F 0.06255760788917542 +7012 617920 Amyloidosis, primary localized cutaneous, 3 0.0625569075345993 +7013 146590 Ichthyosis hystrix, Curth-Macklin type 0.06255684792995453 +7014 614931 Ectodermal dysplasia 9, Hair/nail type 0.06255662441253662 +7015 615458 Microcornea, myopic chorioretinal atrophy, and telecanthus 0.06255632638931274 +7016 615780 Retinitis pigmentosa 69 0.06255629658699036 +7017 620422 Retinitis pigmentosa 97 0.06255494803190231 +7018 601001 Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive 0.062554731965065 +7019 613862 Retinitis pigmentosa 38 0.06255456805229187 +7020 616289 Optic atrophy 9 0.06255419552326202 +7021 614303 Edict syndrome 0.06255380809307098 +7022 125595 Dermatopathia pigmentosa reticularis 0.0625503733754158 +7023 601952 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma 0.06255000829696655 +7024 601706 Yemenite deaf-blind hypopigmentation syndrome 0.06254849582910538 +7025 189500 Witkop syndrome 0.06254838407039642 +7026 611102 Deafness, sensorineural, and male infertility 0.0625472441315651 +7027 615374 Cone-Rod dystrophy 18 0.06254486739635468 +7028 615860 Cone-Rod dystrophy 19 0.06254393607378006 +7029 145250 Hyperpigmentation, familial progressive 0.0625438317656517 +7030 616152 Macular dystrophy, vitelliform, 5 0.06254292279481888 +7031 101900 Acrokeratosis verruciformis 0.06254248321056366 +7032 616099 Palmoplantar keratoderma and woolly hair 0.06254151463508606 +7033 618267 Epidermodysplasia verruciformis, susceptibility to, 3 0.0625380277633667 +7034 108420 Spermatogenic failure 2 0.0625375509262085 +7035 103500 Tietz albinism-deafness syndrome 0.06253595650196075 +7036 618433 Spermatogenic failure 38 0.06252966821193695 +7037 276900 Usher syndrome, type I 0.0625293031334877 +7038 619515 Spermatogenic failure 56 0.06252828240394592 +7039 618643 Spermatogenic failure 39 0.06252721697092056 +7040 301099 Spermatogenic failure, X-linked, 5 0.06252697110176086 +7041 618153 Spermatogenic failure 34 0.06252685189247131 +7042 619867 Spermatogenic failure 72 0.06252685189247131 +7043 606854 Polymicrogyria, bilateral frontoparietal 0.06251636892557144 +7044 618529 Robinow syndrome, autosomal recessive 2 0.06251326948404312 +7045 617665 Epileptic encephalopathy, early infantile, 56 0.06251232326030731 +7046 140000 Hand-foot-uterus syndrome 0.06249449774622917 +7047 272950 Teebi-Shaltout syndrome 0.062480486929416656 +7048 606324 Parkinson disease 7, autosomal recessive early-onset 0.06245635077357292 +7049 619112 Neuropathy, distal hereditary motor, type VC 0.06245132163167 +7050 601349 Microphthalmia, syndromic 8 0.06242945417761803 +7051 133190 Spinocerebellar ataxia 34 0.062429334968328476 +7052 614424 Joubert syndrome 14 0.062409594655036926 +7053 620103 Spermatogenic failure 77 0.062405385076999664 +7054 617175 Retinal dystrophy with or without extraocular anomalies 0.06240265443921089 +7055 620343 Basal cell nevus syndrome 2 0.062397390604019165 +7056 619519 Charcot-Marie-Tooth disease, axonal, type 2FF 0.06239714100956917 +7057 605280 Spastic paraplegia 13, autosomal dominant 0.06237832456827164 +7058 618063 Ciliary dyskinesia, primary, 38 0.06237376481294632 +7059 620197 Ciliary dyskinesia, primary, 49, without situs inversus 0.06236892193555832 +7060 300425 Autism susceptibility, X-linked 1 0.062354572117328644 +7061 217980 Corpus callosum, agenesis of, with facial anomalies and Robin sequence 0.062351953238248825 +7062 617091 Ciliary dyskinesia, primary, 34 0.0623515360057354 +7063 276820 Ulna and fibula, absence of, with severe limb deficiency 0.06233205273747444 +7064 177650 Exfoliation syndrome 0.062290631234645844 +7065 605726 Spinal muscular atrophy, distal, autosomal recessive, 2 0.062285322695970535 +7066 617903 Neurodevelopmental disorder with poor language and loss of hand skills 0.06227881833910942 +7067 617771 Developmental and epileptic encephalopathy 57 0.062277015298604965 +7068 164220 Schilbach-Rott syndrome 0.06224923953413963 +7069 607694 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism 0.06220196932554245 +7070 620115 Developmental and epileptic encephalopathy 108 0.06218528747558594 +7071 618587 Intellectual developmental disorder 60 with seizures 0.062129441648721695 +7072 617760 Myopathy, centronuclear, 6, with fiber-type disproportion 0.062126003205776215 +7073 620330 Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities 0.06211737170815468 +7074 611884 Ciliary dyskinesia, primary, 7 0.06211016699671745 +7075 618036 Charcot-Marie-Tooth disease, axonal, type 2DD 0.06210363283753395 +7076 614820 Alternating hemiplegia of childhood 2 0.06208402290940285 +7077 619531 Cone-rod dystrophy 22 0.06207730993628502 +7078 616491 Charcot-Marie-Tooth disease, axonal, type 2V 0.06206526234745979 +7079 603218 Huntington disease-like 1 0.06206449121236801 +7080 605013 MICROHYDRANENCEPHALY 0.062054529786109924 +7081 616269 Intellectual developmental disorder, autosomal recessive 48 0.06204374507069588 +7082 619493 Congenital disorder of glycosylation, type 2V 0.06203960254788399 +7083 615658 Spastic paraplegia 57, autosomal recessive 0.06199653446674347 +7084 618840 Alopecia-mental retardation syndrome 4 0.061992622911930084 +7085 278700 Xeroderma pigmentosum, complementation group A 0.061985667794942856 +7086 615473 Developmental and epileptic encephalopathy 17 0.06198260933160782 +7087 611040 Microphthalmia, isolated 5 0.061972618103027344 +7088 615007 Basal ganglia calcification, idiopathic, 4 0.061960287392139435 +7089 602418 Weyers ulnar ray/oligodactyly syndrome 0.061949700117111206 +7090 118400 Cherubism 0.06194419786334038 +7091 551500 Neuropathy, ataxia, and retinitis pigmentosa 0.06192030385136604 +7092 612621 Intellectual developmental disorder, autosomal dominant 5 0.06191536411643028 +7093 190420 Triglyceride storage disease, type I 0.06190869212150574 +7094 616053 Spinocerebellar ataxia 40 0.06187104061245918 +7095 166780 Otofaciocervical syndrome 0.06186898425221443 +7096 618760 Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 0.06183645874261856 +7097 245660 Laryngoonychocutaneous syndrome 0.06183523312211037 +7098 157980 MOMO syndrome 0.06182354316115379 +7099 616331 Robinow syndrome, autosomal dominant 2 0.06181427091360092 +7100 617622 Joubert syndrome 30 0.06177841126918793 +7101 610048 Corneal dystrophy, congenital stromal 0.061758458614349365 +7102 613093 Cone dystrophy 4 0.06174669787287712 +7103 604307 Cataract 2, multiple types 0.06174616515636444 +7104 619165 Oculocutaneous albinism, type VIII 0.061738766729831696 +7105 309610 Prieto syndrome 0.06172075495123863 +7106 617026 Pontocerebellar hypoplasia, type 2F 0.061719559133052826 +7107 613096 Spastic paraplegia 36, autosomal dominant 0.061712052673101425 +7108 602078 Fibrosis of extraocular muscles, congenital, 2 0.06169397756457329 +7109 101600 Pfeiffer syndrome 0.06166038289666176 +7110 308050 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects 0.061654359102249146 +7111 610031 Cortical dysplasia, complex, with other brain malformations 7 0.06161556392908096 +7112 616852 Myopathy, scapulohumeroperoneal 0.06160959601402283 +7113 131760 Epidermolysis bullosa simplex, Dowling-Meara type 0.06158706918358803 +7114 614213 Neuropathy, hereditary sensory, type IIC 0.06156371161341667 +7115 609638 Epidermolysis bullosa, lethal acantholytic 0.061563629657030106 +7116 620453 Dystonia 22, juvenile-onset 0.06152035668492317 +7117 618292 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 0.06151944771409035 +7118 619121 Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 0.06151266396045685 +7119 618761 Catifa syndrome 0.06151209771633148 +7120 617350 Epileptic encephalopathy, early infantile, 52 0.06146323308348656 +7121 300376 Muscular dystrophy, Becker type 0.0614592619240284 +7122 619157 Neurodevelopmental disorder with or without early-onset generalized epilepsy 0.061458978801965714 +7123 614753 Malan syndrome 0.06144905462861061 +7124 614935 Ciliary dyskinesia, primary, 19 0.06142536550760269 +7125 200980 Acrorenal-Mandibular syndrome 0.061410628259181976 +7126 615006 Developmental and epileptic encephalopathy 15 0.06141050532460213 +7127 607152 Spastic paraplegia 19, autosomal dominant 0.06139615923166275 +7128 616657 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly 0.06139548867940903 +7129 614959 Developmental and epileptic encephalopathy 14 0.061395131051540375 +7130 619806 Spinocerebellar ataxia 49 0.06135155260562897 +7131 184460 Stapes ankylosis with broad thumb and toes 0.06133439019322395 +7132 618170 Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 0.061324164271354675 +7133 613089 Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 0.06127970293164253 +7134 618824 Basal ganglia calcification, idiopathic, 8, autosomal recessive 0.06127907335758209 +7135 615113 Microphthalmia, isolated 8 0.061269745230674744 +7136 158600 Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 0.06124378368258476 +7137 613608 Epilepsy, familial adult myoclonic, 3 0.06123073771595955 +7138 619194 Neurofacioskeletal syndrome with or without renal agenesis 0.06122666224837303 +7139 614080 Multiple congenital anomalies-hypotonia-seizures syndrome 1 0.06122104078531265 +7140 620303 Pituitary hormone deficiency, combined or isolated, 8 0.061196986585855484 +7141 617061 Mental retardation, autosomal dominant 44 0.061159465461969376 +7142 616330 Myasthenic syndrome, congenital, 18 0.061121538281440735 +7143 607485 Frontotemporal lobar degeneration with TDP43 inclusions 0.06111238896846771 +7144 613983 Retinitis pigmentosa 60 0.061097726225852966 +7145 612095 Retinitis pigmentosa 41 0.06109640374779701 +7146 253300 Spinal muscular atrophy, type I 0.06109480559825897 +7147 616171 Microcephaly and chorioretinopathy, autosomal recessive, 2 0.06108995899558067 +7148 101400 Saethre-Chotzen syndrome 0.06097047030925751 +7149 617171 Dyskinesia, seizures, and intellectual developmental disorder 0.06096496805548668 +7150 619966 Spastic paraplegia 87, autosomal recessive 0.0609644316136837 +7151 611560 Joubert syndrome 7 0.06095784902572632 +7152 160800 Myotonia congenita, autosomal dominant 0.06095501035451889 +7153 615871 Epileptic encephalopathy, early infantile, 24 0.060954704880714417 +7154 615035 Spastic paraplegia 55, autosomal recessive 0.06095210835337639 +7155 270550 Spastic ataxia, Charlevoix-Saguenay type 0.06090258061885834 +7156 161200 Nail-Patella syndrome 0.06089719012379646 +7157 606851 Cree mental retardation syndrome 0.060896068811416626 +7158 614134 Stickler syndrome, type IV 0.060895826667547226 +7159 616668 Charcot-Marie-Tooth disease, axonal, type 2X 0.06089574843645096 +7160 617977 Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 0.060892630368471146 +7161 619076 Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy 0.06083182618021965 +7162 619687 Dystonia 33 0.06082215905189514 +7163 616481 Ciliary dyskinesia, primary, 32 0.06082027778029442 +7164 615541 Mental retardation, autosomal recessive 39 0.06079605221748352 +7165 612335 Spastic paraplegia 38, autosomal dominant 0.06079357489943504 +7166 617480 46,xx sex reversal 4 0.0607927069067955 +7167 617805 Renal hypodysplasia/aplasia 3 0.060788676142692566 +7168 620457 Auriculocondylar syndrome 4 0.06077951937913895 +7169 620250 Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum 0.060777682811021805 +7170 616291 Lichtenstein-Knorr syndrome 0.06075892224907875 +7171 135700 Fibrosis of extraocular muscles, congenital, 1 0.06075505539774895 +7172 617804 Neurodevelopmental disorder with severe motor impairment and absent language 0.06074623391032219 +7173 604326 Spinocerebellar ataxia 12 0.06073756515979767 +7174 618438 Spastic ataxia 9, autosomal recessive 0.06073198467493057 +7175 612444 Ciliary dyskinesia, primary, 9, with or without situs inversus 0.06073087826371193 +7176 617755 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0.060729049146175385 +7177 619268 Alzahrani-Kuwahara syndrome 0.060720425099134445 +7178 300496 Autism susceptibility, X-linked 3 0.06071621552109718 +7179 267760 Retinal degeneration with nanophthalmos, cystic macular degeneration,and angle closure glaucoma 0.060679320245981216 +7180 616654 Joubert syndrome 24 0.06067637726664543 +7181 604625 Tooth agenesis, selective, 3 0.06067439913749695 +7182 618180 Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 0.06066929176449776 +7183 312080 Pelizaeus-Merzbacher disease 0.06066792458295822 +7184 620253 Cataract 50 with or without glaucoma 0.060666777193546295 +7185 194300 Woolly hair, autosomal dominant 0.06066210940480232 +7186 217300 Cornea plana 2 0.06066153943538666 +7187 173200 Pityriasis rubra pilaris 0.060661185532808304 +7188 619555 Epidermolysis bullosa simplex 2A, generalized severe 0.060658786445856094 +7189 605670 Retinal degeneration, late-onset, autosomal dominant 0.06065573915839195 +7190 135400 Hypertrichosis terminalis, generalized, with or without gingival hyperplasia 0.06065446510910988 +7191 614292 Myopia, high, with cataract and vitreoretinal degeneration 0.060654424130916595 +7192 613762 46,xy sex reversal 6 0.06064937263727188 +7193 233420 46,xy sex reversal 7 0.060640521347522736 +7194 602629 Dystonia 6, torsion 0.060633718967437744 +7195 619379 Spermatogenic failure 54 0.060633689165115356 +7196 619177 Spermatogenic failure 51 0.06063348427414894 +7197 618089 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0.06059722602367401 +7198 190685 Down syndrome 0.060577910393476486 +7199 604841 Stickler syndrome, type II 0.06057365611195564 +7200 616819 Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 0.06054436042904854 +7201 614066 Spastic paraplegia 47, autosomal recessive 0.06052406504750252 +7202 615942 Intellectual developmental disorder, autosomal recessive 44 0.06050456315279007 +7203 155145 Cleft, median, of upper lip with polyps of facial skin and nasal mucosa 0.06048930436372757 +7204 227330 Faciodigitogenital syndrome, autosomal recessive 0.060475047677755356 +7205 201170 Acrofacial dysostosis syndrome of rodriguez 0.060470592230558395 +7206 620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome 0.06046506389975548 +7207 608105 Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 0.06046407297253609 +7208 500013 Mitochondrial form of axonal Charcot-Marie-Tooth disease-1 0.06046000123023987 +7209 615948 Orofaciodigital syndrome XIV 0.06045344099402428 +7210 265050 3MC syndrome 2 0.06043461710214615 +7211 620022 Stickler syndrome, type VI 0.060427479445934296 +7212 616409 Developmental and epileptic encephalopathy 33 0.06041525676846504 +7213 616469 Retinitis pigmentosa 72 0.060411226004362106 +7214 610951 Ceroid lipofuscinosis, neuronal, 7 0.060410406440496445 +7215 248700 Marden-Walker syndrome 0.06038258597254753 +7216 617113 Epileptic encephalopathy, early infantile, 43 0.06037968024611473 +7217 601957 Odontotrichoungual-Digital-Palmar syndrome 0.06037339195609093 +7218 619354 Deafness, cataract, impaired intellectual development, and polyneuropathy 0.06037047505378723 +7219 615960 Poretti-Boltshauser syndrome 0.06031935289502144 +7220 613671 Mental retardation, anterior maxillary protrusion, and strabismus 0.060315705835819244 +7221 605282 Temtamy preaxial brachydactyly syndrome 0.06029834970831871 +7222 309350 Melnick-Needles syndrome 0.06028206646442413 +7223 618768 Spastic paraplegia 81, autosomal recessive 0.0602700337767601 +7224 159900 Dystonia 11, myoclonic 0.06025875359773636 +7225 135150 Birt-Hogg-Dube syndrome 0.0602562315762043 +7226 618357 Epilepsy, idiopathic generalized, susceptibility to, 15 0.06024956703186035 +7227 618658 Zimmermann-Laband syndrome 3 0.060211148113012314 +7228 600794 Neuronopathy, distal hereditary motor, type VA 0.06019521504640579 +7229 618174 Cortical dysplasia, complex, with other brain malformations 9 0.06018829345703125 +7230 616056 Developmental and epileptic encephalopathy 26 0.06017351895570755 +7231 615386 Spinocerebellar ataxia, autosomal recessive 14 0.06017279624938965 +7232 616083 Intellectual developmental disorder, autosomal dominant 30 0.06016828492283821 +7233 619260 Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis 0.060163725167512894 +7234 619742 Charcot-Marie-Tooth disease, demyelinating, type 1I 0.06011373549699783 +7235 268320 Rodrigues blindness 0.060088109225034714 +7236 618622 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 0.06007425859570503 +7237 400044 46XY sex reversal 1 0.06007050350308418 +7238 613266 Waardenburg syndrome, type 4C 0.060069259256124496 +7239 156200 Mental retardation, autosomal dominant 1 0.060020383447408676 +7240 617296 Spastic paraplegia, intellectual disability, nystagmus, and obesity 0.05994902551174164 +7241 617762 Leukodystrophy, progressive, early childhood-onset 0.059938348829746246 +7242 207950 Chiari malformation type II 0.059937380254268646 +7243 610356 Retinal cone dystrophy 3B 0.05993656441569328 +7244 617236 Cone-rod dystrophy and hearing loss 0.05993293225765228 +7245 262300 Achromatopsia 3 0.059928685426712036 +7246 617879 Leber congenital amaurosis with early-onset deafness 0.0599249042570591 +7247 606995 Senior-Loken syndrome 3 0.05989857390522957 +7248 616202 Cerebellofaciodental syndrome 0.05988799408078194 +7249 614976 Carpenter syndrome 2 0.059855762869119644 +7250 615065 Arthrogryposis, distal, type 5D 0.05983078107237816 +7251 619692 Trichothiodystrophy 9, nonphotosensitive 0.05982499197125435 +7252 608687 Spinocerebellar ataxia 20 0.059815168380737305 +7253 310200 Duchenne muscular dystrophy 0.05979745090007782 +7254 611390 Spastic ataxia 3, autosomal recessive 0.05979230999946594 +7255 613456 Frontonasal dysplasia 3 0.05978839471936226 +7256 604805 Spastic paraplegia 12, autosomal dominant 0.059785667806863785 +7257 606658 Spinocerebellar ataxia 15 0.05977063253521919 +7258 615362 Ceroid lipofuscinosis, neuronal, 13 0.05976909399032593 +7259 158330 Mullerian aplasia and hyperandrogenism 0.059768497943878174 +7260 615023 Ichthyosis, congenital, autosomal recessive 9 0.05976615473628044 +7261 619761 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism 0.059763189405202866 +7262 615643 Neurodegeneration with brain iron accumulation 6 0.05976301431655884 +7263 125370 Dentatorubral-pallidoluysian atrophy 0.059757836163043976 +7264 618823 Myopathy, congenital proximal, with minicore lesions 0.0597538948059082 +7265 616398 Dystonia 26, myoclonic 0.0597502738237381 +7266 607136 Spinocerebellar ataxia 17 0.05974975600838661 +7267 611929 Camptodactyly syndrome, Guadalajara, type III 0.05974704772233963 +7268 211530 Brown-Vialetto-Van Laere syndrome 1 0.059746984392404556 +7269 619317 Developmental and epileptic encephalopathy 6B, non-Dravet 0.05973830074071884 +7270 614841 Hypogonadotropic hypogonadism 12 with or without anosmia 0.059729330241680145 +7271 601353 Brachycephaly, deafness, cataract, microstomia, and mental retardation 0.05972406640648842 +7272 616863 Chromosome 16p13.2 deletion syndrome 0.05970211327075958 +7273 614969 Pontocerebellar hypoplasia, type 7 0.0596974715590477 +7274 273250 46, XY sex reversal 11 0.05968343839049339 +7275 619028 Coenzyme Q10 deficiency, primary, 9 0.059677645564079285 +7276 610245 Spinocerebellar ataxia 23 0.05966998636722565 +7277 104100 Palmoplantar keratoderma with congenital alopecia 0.05965111032128334 +7278 615516 Mental retardation, autosomal recessive 38 0.05964391678571701 +7279 620507 Ichthyosis with erythrokeratoderma 0.05962715670466423 +7280 617802 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0.05962280184030533 +7281 619470 Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities 0.05962194502353668 +7282 613376 Neuronopathy, distal hereditary motor, type IIC 0.05959886312484741 +7283 619989 Neurodevelopmental disorder with speech delay and variable ocular anomalies 0.05959269404411316 +7284 615651 Leukoencephalopathy with ataxia 0.05958685278892517 +7285 601152 Hereditary motor and sensory neuropathy VIA 0.05956849455833435 +7286 141400 Hemifacial microsomia with radial defects 0.05955887958407402 +7287 617532 Intellectual developmental disorder with neuropsychiatric features 0.059539683163166046 +7288 614188 Craniosynostosis and dental anomalies 0.059512171894311905 +7289 615859 Developmental and epileptic encephalopathy 23 0.05950942635536194 +7290 123790 Beare-Stevenson cutis gyrata syndrome 0.05949630215764046 +7291 258865 Orofaciodigital syndrome IX 0.05946328118443489 +7292 617018 Spinocerebellar ataxia 43 0.059451621025800705 +7293 180105 Retinitis pigmentosa 10 0.05944351106882095 +7294 604116 Cone-rod dystrophy 3 0.0594416968524456 +7295 222448 Donnai-Barrow syndrome 0.0594196580350399 +7296 616037 Ciliary dyskinesia, primary, 30 0.059418246150016785 +7297 620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities 0.05939175933599472 +7298 607565 Spastic paraplegia, ataxia, and mental retardation 0.05939076095819473 +7299 615817 Intellectual developmental disorder, autosomal recessive 43 0.05935516208410263 +7300 614202 Rafiq syndrome 0.05935268476605415 +7301 617831 Mental retardation, autosomal dominant 55, with seizures 0.059351034462451935 +7302 270200 Sjogren-Larsson syndrome 0.059324782341718674 +7303 610185 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2 0.05931229516863823 +7304 277720 Whistling face syndrome, recessive form 0.05927114933729172 +7305 616732 Optic atrophy 10 with or without ataxia, mental retardation, and seizures 0.0592460036277771 +7306 612989 Optic atrophy 7 with or without auditory neuropathy 0.05923309922218323 +7307 608649 Ichthyosis prematurity syndrome 0.059207696467638016 +7308 619561 Developmental and epileptic encephalopathy 97 0.05920763313770294 +7309 244200 Hypogonadotropic hypogonadism 3 with or without anosmia 0.059185516089200974 +7310 239710 Acrofrontofacionasal dysostosis 2 0.05917087942361832 +7311 607684 Charcot-Marie-Tooth disease, axonal, type 2E 0.059170011430978775 +7312 602849 Muenke syndrome 0.059167586266994476 +7313 620086 Intellectual developmental disorder with ocular anomalies and distinctive facial features 0.059148214757442474 +7314 616040 Myasthenic syndrome, congenital, 7, presynaptic 0.05914819985628128 +7315 243000 Indifference to pain, congenital, autosomal recessive 0.059141479432582855 +7316 136760 Frontonasal dysplasia 1 0.05913519859313965 +7317 619264 Neurodevelopmental disorder with dysmorphic facies and variable seizures 0.059099018573760986 +7318 618797 Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 0.059095051139593124 +7319 618396 Epileptic encephalopathy, early infantile, 74 0.05908048897981644 +7320 620047 Microcephaly 29, primary, autosomal recessive 0.05906514823436737 +7321 613680 Beaulieu-Boycott-Innes syndrome 0.05905048921704292 +7322 618295 Intellectual developmental disorder, autosomal recessive 67 0.05902080982923508 +7323 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 0.05902025103569031 +7324 607876 Epilepsy, familial adult myoclonic, 2 0.05901864171028137 +7325 301101 Spermatogenic failure, X-linked, 6 0.05901561677455902 +7326 251270 Microcephaly and chorioretinopathy, autosomal recessive, 1 0.05899874120950699 +7327 262000 Bjornstad syndrome 0.058988191187381744 +7328 166750 Otodental dysplasia 0.05898211896419525 +7329 617914 Microcephaly 20, primary, autosomal recessive 0.058964189141988754 +7330 242100 Ichthyosis, congenital, autosomal recessive 2 0.05894826352596283 +7331 616230 Epilepsy, progressive myoclonic, 8 0.05894765630364418 +7332 619435 Ritscher-Schinzel syndrome 4 0.058945123106241226 +7333 618663 Epileptic encephalopathy, early infantile, 81 0.05893805995583534 +7334 618604 Snijders Blok-Fisher syndrome 0.05893801525235176 +7335 614561 Leukoencephalopathy, brain calcifications, and cysts 0.058929793536663055 +7336 619777 Developmental and epileptic encephalopathy 100 0.058926794677972794 +7337 609583 Joubert syndrome 4 0.05891432240605354 +7338 616486 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities 0.05890534445643425 +7339 605389 Hypotrichosis 1 0.05890083312988281 +7340 612841 Hypotrichosis 5 0.05889055132865906 +7341 602588 Branchiootic syndrome 1 0.05888810008764267 +7342 158000 Monilethrix 0.058884717524051666 +7343 615233 Retinitis pigmentosa 66 0.0588819682598114 +7344 618144 Usher syndrome, type IV 0.0588817298412323 +7345 617294 Epidermolysis bullosa simplex, generalized, with scarring and hair loss 0.05888018757104874 +7346 620199 Inflammatory poikiloderma with hair abnormalities and acral keratoses 0.05887804180383682 +7347 216820 Coloboma, ocular, autosomal recessive 0.058874934911727905 +7348 210370 Bietti crystalline corneoretinal dystrophy 0.05887452885508537 +7349 617319 Anterior segment dysgenesis 8 0.058872055262327194 +7350 602401 Ectodermal dysplasia 8, Hair/tooth/nail type 0.058866214007139206 +7351 619712 Spermatogenic failure 65 0.058851297944784164 +7352 620409 Spermatogenic failure 84 0.05885107442736626 +7353 310300 Emery-Dreifuss muscular dystrophy 1, X-linked 0.058794327080249786 +7354 212840 Cerebellar ataxia and hypogonadotropic hypogonadism 0.05877978354692459 +7355 146110 Hypogonadotropic hypogonadism 7 without anosmia 0.05877542495727539 +7356 619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures 0.058771561831235886 +7357 617681 Blepharocheilodontic syndrome 2 0.05876084789633751 +7358 619000 Intellectual developmental disorder with seizures and language delay 0.05873064696788788 +7359 620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures 0.058724332600831985 +7360 619759 Tessadori-van Haaften neurodevelopmental syndrome 2 0.05869842693209648 +7361 181405 Scapuloperoneal spinal muscular atrophy 0.058615557849407196 +7362 616204 Spinocerebellar ataxia, autosomal recessive 18 0.05859396234154701 +7363 610954 Pitt-Hopkins syndrome 0.058575741946697235 +7364 300076 Immunoneurologic disorder, X-linked 0.058568909764289856 +7365 615575 Neuronopathy, distal hereditary motor, type IID 0.05856410786509514 +7366 617933 Epileptic encephalopathy, early infantile, 61 0.05852363258600235 +7367 145420 Teebi hypertelorism syndrome 1 0.05847141891717911 +7368 616875 Cerebellar atrophy, visual impairment, and psychomotor retardation 0.058468230068683624 +7369 201810 Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 0.05846797674894333 +7370 615866 Coffin-Siris syndrome 9 0.05843287706375122 +7371 615043 Spastic paraplegia 43, autosomal recessive 0.05840209499001503 +7372 613808 Ciliary dyskinesia, primary, 15 0.05838848277926445 +7373 106995 Anonychia-Onychodystrophy with hypoplasia or absence of distal phalanges 0.05831567198038101 +7374 213200 Spinocerebellar ataxia, autosomal recessive 2 0.05831107869744301 +7375 300712 Craniofacioskeletal syndrome 0.058307357132434845 +7376 256710 Elejalde disease 0.05830677971243858 +7377 615705 Spinocerebellar ataxia, autosomal recessive 15 0.05830196291208267 +7378 618535 Ectodermal dysplasia 15, Hypohidrotic/hair type 0.05828661471605301 +7379 618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome 0.05828620493412018 +7380 615500 Ciliary dyskinesia, primary, 26 0.05828471854329109 +7381 615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies 0.05826250836253166 +7382 615434 Retinitis pigmentosa with or without situs inversus 0.05825800821185112 +7383 304020 Cone-rod dystrophy, X-linked, 1 0.05822758749127388 +7384 614186 Leber congenital amaurosis 16 0.05822650343179703 +7385 311070 Charcot-Marie-Tooth disease, X-linked recessive, 5 0.05822460353374481 +7386 169150 Macular dystrophy, patterned, 1 0.05822345241904259 +7387 608161 Macular dystrophy, vitelliform, 3 0.058222703635692596 +7388 158170 Chromosome 9P deletion syndrome 0.05821527540683746 +7389 611584 Waardenburg syndrome, type 2E 0.05817515403032303 +7390 606519 PHACE association 0.05813940614461899 +7391 615108 Cowden syndrome 5 0.058136023581027985 +7392 253280 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 0.05813027545809746 +7393 124480 Deafness, congenital, and onychodystrophy, autosomal dominant 0.058127038180828094 +7394 618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities 0.058124661445617676 +7395 616346 Epileptic encephalopathy, early infantile, 31 0.058102723211050034 +7396 617225 Spastic paraplegia 78, autosomal recessive 0.058101870119571686 +7397 251750 Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 0.05809992179274559 +7398 124200 Darier-White disease 0.05807407572865486 +7399 617931 Spinocerebellar ataxia 47 0.058068372309207916 +7400 619724 Dystonia 34, myoclonic 0.05805870145559311 +7401 129200 Basan syndrome 0.05802066996693611 +7402 226650 Epidermolysis bullosa, junctional, Non-Herlitz type 0.057997412979602814 +7403 610708 Optic atrophy 5 0.057986680418252945 +7404 619467 Usmani-Riazuddin syndrome, autosomal dominant 0.05796302109956741 +7405 613162 Spastic paraplegia 45, autosomal recessive 0.05794239044189453 +7406 609283 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 0.05792330950498581 +7407 607317 Spinocerebellar ataxia, autosomal recessive 4 0.0579204335808754 +7408 616803 Lamb-Shaffer syndrome 0.0579058974981308 +7409 620021 Intellectual developmental disorder with autism and dysmorphic facies 0.057894740253686905 +7410 613581 Retinitis pigmentosa 56 0.05788232758641243 +7411 616898 Chromosome 15q14 deletion syndrome 0.05787970870733261 +7412 618454 Developmental delay with or without dysmorphic facies and autism 0.0578593835234642 +7413 616640 Epilepsy, progressive myoclonic, 10 0.057856880128383636 +7414 108500 Episodic ataxia, type 2 0.05784307047724724 +7415 610706 Deafness, congenital, with inner ear agenesis, microtia, and microdontia 0.057772718369960785 +7416 300088 Epileptic encephalopathy, early infantile, 9 0.05776430666446686 +7417 604187 Spastic paraplegia 10, autosomal dominant 0.05775270611047745 +7418 619522 Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 0.057708483189344406 +7419 305400 Aarskog-Scott syndrome 0.05770358070731163 +7420 146510 Pallister-Hall syndrome 0.05770261958241463 +7421 613341 Leber congenital amaurosis 14 0.05769635736942291 +7422 619208 Olmsted syndrome 2 0.057696059346199036 +7423 619606 Developmental and epileptic encephalopathy 99 0.05767467990517616 +7424 619605 Developmental and epileptic encephalopathy 98 0.057649869471788406 +7425 618286 Macrocephaly, acquired, with impaired intellectual development 0.057623326778411865 +7426 618393 Fetal akinesia deformation sequence 4 0.05761944502592087 +7427 618141 Epileptic encephalopathy, early infantile, 67 0.05761924386024475 +7428 619328 Leukodystrophy, hypomyelinating, 22 0.057608652859926224 +7429 618090 Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 0.057594966143369675 +7430 620438 Ciliary dyskinesia, primary, 51 0.057573918253183365 +7431 618470 Intellectual developmental disorder with severe speech and ambulation defects 0.057558074593544006 +7432 234100 Hallermann-Streiff syndrome 0.057521265000104904 +7433 611225 Spastic paraplegia 18, autosomal recessive 0.057518281042575836 +7434 300676 Mental retardation, X-linked, syndromic 14 0.05751781538128853 +7435 618492 Neurodevelopmental disorder with microcephaly and structural brain anomalies 0.05750773847103119 +7436 314320 Trigonocephaly with short stature and developmental delay 0.057481538504362106 +7437 617560 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 0.05746673420071602 +7438 620317 Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities 0.05743519216775894 +7439 614195 Craniofacial anomalies and anterior segment dysgenesis syndrome 0.05742625147104263 +7440 620189 Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition 0.05739837512373924 +7441 607208 Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 0.057390064001083374 +7442 618511 Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy 0.05738691985607147 +7443 616592 Kosaki overgrowth syndrome 0.057379432022571564 +7444 618916 Epileptic encephalopathy, early infantile, 87 0.05737617239356041 +7445 300966 Mental retardation, X-linked, syndromic 33 0.057354409247636795 +7446 616900 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0.057319533079862595 +7447 620342 Cone-rod dystrophy 24 0.057318270206451416 +7448 616981 Epileptic encephalopathy, early infantile, 37 0.05731353908777237 +7449 300519 Mental retardation, X-linked, syndromic, Martin-Probst type 0.05731135979294777 +7450 618270 Congenital anomalies of kidney and urinary tract 3 0.057307228446006775 +7451 618175 Warburg-Cinotti syndrome 0.05730057880282402 +7452 617481 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 0.05727853998541832 +7453 607602 Ichthyosis, cyclic, with epidermolytic hyperkeratosis 0.05726884678006172 +7454 614230 Chromosome 8q21.11 deletion syndrome 0.05723840743303299 +7455 614940 Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant 0.057204145938158035 +7456 617392 Ectodermal dysplasia 13, Hair/tooth type 0.05720109865069389 +7457 183090 Spinocerebellar ataxia 2 0.05719920992851257 +7458 602032 Ectodermal dysplasia 4, Hair/nail type 0.05719707906246185 +7459 616170 Macular dystrophy with central cone involvement 0.05719704553484917 +7460 148700 Keratosis palmoplantaris striata I 0.057194001972675323 +7461 615726 Pachyonychia congenita 3 0.057192299515008926 +7462 615598 Palmoplantar keratoderma, Nagashima type 0.05719071626663208 +7463 618522 Intellectual developmental disorder 59 0.05719071626663208 +7464 610202 Cataract 21, multiple types 0.05718829855322838 +7465 278850 46,XX sex reversal 2 0.05717901512980461 +7466 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 0.057168811559677124 +7467 620445 Neurodevelopmental disorder with microcephaly and movement abnormalities 0.0571681410074234 +7468 221900 Persistent hyperplastic primary vitreous, autosomal recessive 0.05716174095869064 +7469 619653 Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 0.057158101350069046 +7470 615369 Develomental and epileptic encephalopathy 94 0.05713728815317154 +7471 254500 Multiple myeloma 0.057110827416181564 +7472 204100 Leber congenital amaurosis, type II 0.057088062167167664 +7473 617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 0.056948814541101456 +7474 615433 Chromosome 3q13.31 deletion syndrome 0.05694036930799484 +7475 614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0.05692607909440994 +7476 619719 Intellectual disability and myopathy syndrome 0.05692347139120102 +7477 620158 Spinocerebellar ataxia 50 0.0568067692220211 +7478 613776 Chromosome 17p13.1 deletion syndrome 0.056771717965602875 +7479 619426 White-Kernohan syndrome 0.05676417052745819 +7480 605259 Spinocerebellar ataxia 13 0.05675225704908371 +7481 619293 Blepharophimosis-impaired intellectual development syndrome 0.05668609216809273 +7482 201180 Acrofrontofacionasal dysostosis 1 0.05665856972336769 +7483 103050 Adenylosuccinase deficiency 0.05663720890879631 +7484 617121 Joubert syndrome 28 0.05662601813673973 +7485 113100 Brachydactyly, type C 0.056620217859745026 +7486 300029 Retinitis pigmentosa 3 0.05660561844706535 +7487 613855 Episodic ataxia, type 5 0.05658861622214317 +7488 109150 Machado-Joseph disease 0.056575141847133636 +7489 612281 Ichthyosis, congenital, autosomal recessive 6 0.05654948577284813 +7490 617370 Peroxisome biogenesis disorder 10B 0.056515034288167953 +7491 256600 Neurodegeneration with brain iron accumulation 2A 0.05651440471410751 +7492 300696 Myopathy, X-linked, with postural muscle atrophy 0.05651239678263664 +7493 617752 Mental retardation, autosomal dominant 49 0.056500013917684555 +7494 615828 Vulto-van Silfout-de Vries syndrome 0.05645211040973663 +7495 612843 Keratosis follicularis spinulosa decalvans, autosomal dominant 0.05643969401717186 +7496 260300 Parkinson disease 15, autosomal recessive early-onset 0.05636432394385338 +7497 618501 Cerebellar atrophy with seizures and variable developmental delay 0.056364212185144424 +7498 611302 Spastic ataxia 2, autosomal recessive 0.056334804743528366 +7499 614897 Hypogonadotropic hypogonadism 16 with or without anosmia 0.056317150592803955 +7500 613672 Spastic ataxia 4, autosomal recessive 0.0563165545463562 +7501 618873 Lissencephaly 10 0.05630207061767578 +7502 180500 Axenfeld-Rieger syndrome, type 1 0.05629919841885567 +7503 182600 Spastic paraplegia 3, autosomal dominant 0.05629697069525719 +7504 303600 Coffin-Lowry syndrome 0.05627597123384476 +7505 159400 Myasthenia, limb-girdle, autoimmune 0.05623883008956909 +7506 619616 Neurodevelopmental disorder with hearing loss and spasticity 0.056233711540699005 +7507 615109 Cowden syndrome 6 0.05623099207878113 +7508 603671 Acromelic frontonasal dysostosis 0.056195612996816635 +7509 619291 Dystonia 30 0.05617683380842209 +7510 300857 Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia 0.05617435649037361 +7511 619680 Marbach-Schaaf neurodevelopmental syndrome 0.056146420538425446 +7512 268850 Richieri-Costa/guion-Almeida syndrome 0.05609811097383499 +7513 613823 Seckel syndrome 5 0.05607141554355621 +7514 143400 Congenital anomalies of kidney and urinary tract 2 0.056063566356897354 +7515 620075 Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly 0.05601251497864723 +7516 615889 Leukoencephalopathy, progressive, with ovarian failure 0.056011978536844254 +7517 613728 Spinocerebellar ataxia, autosomal recessive 10 0.05599631369113922 +7518 618012 Developmental and epileptic encephalopathy 93 0.05599255859851837 +7519 600795 Frontotemporal dementia and/or amytrophic lateral sclerosis 7 0.05598972365260124 +7520 193003 Nystagmus 4, congenital, autosomal dominant 0.055982764810323715 +7521 616455 Zimmermann-Laband syndrome 2 0.05597670003771782 +7522 612916 Zechi-Ceide syndrome 0.05597548931837082 +7523 609637 Holoprosencephaly 5 0.05597250908613205 +7524 612530 Chromosome 1q41-q42 deletion syndrome 0.055971939116716385 +7525 616212 Lissencephaly 6, with microcephaly 0.05594426020979881 +7526 242300 Ichthyosis, congenital, autosomal recessive 1 0.0559171661734581 +7527 234050 Trichothiodystrophy 4, nonphotosensitive 0.055913642048835754 +7528 619092 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant 0.05591136962175369 +7529 618373 Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma 0.05590071156620979 +7530 619841 Chilton-Okur-Chung neurodevelopmental syndrome 0.0558842271566391 +7531 600383 Mesomelia-Synostoses syndrome 0.05585278198122978 +7532 616789 Mental retardation and distinctive facial features with or without cardiac defects 0.05583866313099861 +7533 277590 Weaver syndrome 0.0557757206261158 +7534 608804 Leukodystrophy, hypomyelinating, 2 0.05577034503221512 +7535 610829 Holoprosencephaly 9 0.05573709309101105 +7536 119500 Popliteal pterygium syndrome 0.05571431294083595 +7537 615885 Hypotrichosis 12 0.055634286254644394 +7538 619720 Bryant-Li-Bhoj neurodevelopmental syndrome 1 0.05562986806035042 +7539 143200 Wagner vitreoretinopathy 0.05562734603881836 +7540 619725 Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 0.05561719834804535 +7541 615973 Cone-Rod dystrophy 20 0.05561179667711258 +7542 131960 Epidermolysis bullosa simplex with mottled pigmentation 0.055609241127967834 +7543 609218 Foveal hypoplasia 2 0.05560682713985443 +7544 619947 Waardenburg syndrome, type 2F 0.05559983476996422 +7545 616001 Breasts and/or nipples, aplasia or hypoplasia of, 2 0.05559380725026131 +7546 614564 Cutaneous telangiectasia and cancer syndrome, familial 0.05558043345808983 +7547 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia 0.05556013062596321 +7548 610042 Pitt-Hopkins like syndrome 1 0.05551336705684662 +7549 142945 Holoprosencephaly 3 0.05551322549581528 +7550 608156 Nablus mask-like facial syndrome 0.055498380213975906 +7551 224050 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 0.055492423474788666 +7552 609945 Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia 0.05548543110489845 +7553 613647 Spastic paraplegia 48, autosomal recessive 0.05547912046313286 +7554 617145 Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 0.05544476956129074 +7555 617106 Epileptic encephalopathy, early infantile, 42 0.05543128401041031 +7556 618718 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 0.055397190153598785 +7557 618569 Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly 0.05537334457039833 +7558 612164 Epileptic encephalopathy, early infantile, 4 0.05534396693110466 +7559 270685 Spastic paraplegia 17 0.05533789470791817 +7560 613744 Spastic paraplegia 51, autosomal recessive 0.05533645302057266 +7561 616030 Hypogonadotropic hypogonadism 22 with or without anosmia 0.05528954043984413 +7562 606693 Kufor-Rakeb syndrome 0.05528821796178818 +7563 600363 Spastic paraplegia 6, autosomal dominant 0.05528654903173447 +7564 614306 Cognitive impairment with or without cerebellar ataxia 0.055278778076171875 +7565 615528 Parkinson disease 19a, juvenile-onset 0.05527851730585098 +7566 619312 Radio-Tartaglia syndrome 0.05527300760149956 +7567 273300 Testicular tumor, somatic 0.05526695400476456 +7568 616211 Developmental and epileptic encephalopathy 28 0.05526343360543251 +7569 616503 Lethal congenital contracture syndrome 9 0.05526098608970642 +7570 153600 Macroglobulinemia, Waldenstrom, somatic 0.055250514298677444 +7571 300243 Mental retardation, x-linked syndromic, Christianson type 0.05513744428753853 +7572 618571 Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 0.05511844903230667 +7573 122000 Corneal dystrophy, posterior polymorphous, 1 0.05508757755160332 +7574 619649 Chromosome 16q12 duplication syndrome 0.05507546663284302 +7575 117360 Spinocerebellar ataxia 29, congenital nonprogressive 0.05507292225956917 +7576 309800 Microphthalmia, syndromic 1 0.05500933155417442 +7577 613640 Neuropathy, hereditary sensory and autonomic, type IC 0.05500754341483116 +7578 619611 Interstitial lung disease 1 0.05499818176031113 +7579 303100 CHOROIDEREMIA 0.05498987436294556 +7580 614225 Warburg micro syndrome 2 0.054976195096969604 +7581 618332 Menke-Hennekam syndrome 1 0.054932475090026855 +7582 309590 Mental retardation, x-linked syndromic, Turner type 0.05490351840853691 +7583 217080 Jalili syndrome 0.05488663539290428 +7584 610687 Nemaline myopathy 7 0.05486806109547615 +7585 614379 Complement component 4B deficiency 0.05481500178575516 +7586 260660 Cousin syndrome 0.05479981005191803 +7587 219000 Fraser syndrome 0.05467155948281288 +7588 618731 Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies 0.05462217330932617 +7589 164210 Hemifacial microsomia 0.054558247327804565 +7590 620285 Amyotrophic lateral sclerosis 27, juvenile 0.05453404039144516 +7591 617468 Arthrogryposis multiplex congenita, neurogenic, with myelin defect 0.05443814769387245 +7592 301091 Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features 0.05439046397805214 +7593 300004 Corpus callosum, agenesis of, with abnormal genitalia 0.054386693984270096 +7594 617284 Dystonia 28, childhood-onset 0.05436225235462189 +7595 618418 Spastic paraplegia 80, autosomal dominant 0.054294515401124954 +7596 300148 Mehmo syndrome 0.0542149655520916 +7597 614831 Spinocerebellar ataxia, autosomal recessive 13 0.05420413613319397 +7598 614929 Ectodermal dysplasia 7, Hair/nail type 0.054131973534822464 +7599 617276 Developmental and epileptic encephalopathy 48 0.054124701768159866 +7600 602499 Macrophthalmia, colobomatous, with microcornea 0.05411165952682495 +7601 269400 Corneal opacification with other ocular anomalies 0.05411093309521675 +7602 619816 Epidermolysis bullosa, junctional 5A, intermediate 0.054108425974845886 +7603 600512 Epilepsy, familial temporal lobe, 1 0.054108306765556335 +7604 278150 Hypotrichosis 8 0.054103534668684006 +7605 616425 46,XY sex reversal 10 0.05409666523337364 +7606 618147 Intellectual developmental disorder with hypertelorism and distinctive facies 0.054080214351415634 +7607 607872 Chromosome 1p36 deletion syndrome 0.053982872515916824 +7608 300912 Mental retardation, X-linked 98 0.05397535860538483 +7609 601088 Ayme-Gripp syndrome 0.053958959877491 +7610 309583 Mental retardation, X-linked, syndromic, Snyder-Robinson type 0.05390576645731926 +7611 618918 Periventricular nodular heterotopia 9 0.053831323981285095 +7612 136140 Floating-Harbor syndrome 0.05377320572733879 +7613 612319 Spastic paraplegia 35, autosomal recessive 0.05374090373516083 +7614 275210 Restrictive dermopathy 1 0.053730469197034836 +7615 614558 Epileptic encephalopathy, early infantile, 13 0.05371119827032089 +7616 615444 Ciliary dyskinesia, primary, 22 0.05370087921619415 +7617 167210 Pachyonychia congenita 2 0.0536532886326313 +7618 619311 Hiatt-Neu-Cooper neurodevelopmental syndrome 0.05365101993083954 +7619 301032 Basilicata-Akhtar syndrome 0.05359027534723282 +7620 212550 Optic disc anomalies with retinal and/or macular dystrophy 0.05358616262674332 +7621 167730 Nasopalpebral lipoma-coloboma syndrome 0.05352158099412918 +7622 600224 Spinocerebellar ataxia 5 0.05351405218243599 +7623 619873 Parenti-Mignot neurodevelopmental syndrome 0.053508419543504715 +7624 608647 Ciliary dyskinesia, primary, 5 0.05341768264770508 +7625 611465 Gallbladder disease 4 0.05340316891670227 +7626 618971 Tolchin-Le Caignec syndrome 0.05337342992424965 +7627 600116 Parkinson disease, juvenile, type 2 0.053359054028987885 +7628 300260 Mental retardation, x-linked syndromic, Lubs type 0.053341735154390335 +7629 612936 Spastic paraplegia 50, autosomal recessive 0.05331464484333992 +7630 165500 Optic atrophy 1 0.05329778045415878 +7631 268310 Robinow syndrome, autosomal recessive 0.05325121432542801 +7632 301006 Galloway-Mowat syndrome 2, X-linked 0.053246498107910156 +7633 181270 Scalp-ear-nipple syndrome 0.05323292687535286 +7634 164400 Spinocerebellar ataxia 1 0.05323227867484093 +7635 619641 Hengel-Maroofian-Schols syndrome 0.0531797781586647 +7636 106260 Hay-Wells syndrome 0.05313827097415924 +7637 618737 Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 0.053110476583242416 +7638 616127 Spinocerebellar ataxia, autosomal recessive 17 0.05308081954717636 +7639 301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked 0.05306674912571907 +7640 617126 Alazami-Yuan syndrome 0.05305102467536926 +7641 615483 Basal ganglia calcification, idiopathic, 5 0.05296424776315689 +7642 616505 Neuropathy, hereditary motor and sensory, type VIB 0.052952494472265244 +7643 618820 Genitourinary and/or/brain malformation syndrome 0.05293525010347366 +7644 606071 Hereditary motor and sensory neuropathy, type IIC 0.05283802002668381 +7645 613254 Tuberous sclerosis-2 0.052817750722169876 +7646 607323 Duane-Radial ray syndrome 0.05280941724777222 +7647 604379 Hypotrichosis 7 0.052712421864271164 +7648 604229 Anterior segment dysgenesis 5, multiple subtypes 0.0527002327144146 +7649 120970 Cone-Rod dystrophy 2 0.052693694829940796 +7650 203200 Albinism, oculocutaneous, type II 0.05269299075007439 +7651 604536 Ectodermal dysplasia/skin fragility syndrome 0.05269015580415726 +7652 193510 Waardenburg syndrome, type 2A 0.052675120532512665 +7653 619691 Trichothiodystrophy 8, nonphotosensitive 0.05266603082418442 +7654 619983 Developmental and epileptic encephalopathy 105 with hypopituitarism 0.052645545452833176 +7655 194080 Denys-Drash syndrome 0.052573252469301224 +7656 614067 Spastic paraplegia 52, autosomal recessive 0.05255744233727455 +7657 152950 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 0.05250789225101471 +7658 216900 Achromatopsia 2 0.05225616693496704 +7659 218350 Craniofacial dyssynostosis with short stature 0.05221983417868614 +7660 617337 Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type 0.05221595987677574 +7661 607682 Epilepsy, idiopathic generalized, susceptibility to, 9 0.05220164358615875 +7662 300807 Thrombophilia, X-linked, due to factor IX defect 0.05213243141770363 +7663 602540 Ichthyosis, hystrix-like, with deafness 0.05211621895432472 +7664 616367 Mandibulofacial dysostosis with alopecia 0.052064068615436554 +7665 123450 Cri-Du-Chat syndrome 0.05205516144633293 +7666 615979 Intellectual developmental disorder, autosomal recessive 45 0.05204413831233978 +7667 619694 Developmental delay with variable neurologic and brain abnormalities 0.05204157158732414 +7668 614219 Adams-Oliver syndrome 2 0.05195951461791992 +7669 247100 Urbach-Wiethe disease 0.05189930647611618 +7670 300845 Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism,and facial dysmorphism 0.051891639828681946 +7671 135900 Coffin-Siris syndrome 1 0.05188955366611481 +7672 613835 Leber congenital amaurosis 8 0.05185249447822571 +7673 602501 Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 0.05183083191514015 +7674 617523 Neurodevelopmental disorder with midbrain and hindbrain malformations 0.0518229715526104 +7675 612913 Orofaciodigital syndrome XI 0.05180808901786804 +7676 182601 Spastic paraplegia 4, autosomal dominant 0.05178748443722725 +7677 617763 Short stature, hearing loss, retinitis pigmentosa, and distinctive facies 0.05173908546566963 +7678 609616 Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctatecalcifications, and deafness 0.05169830098748207 +7679 225060 Cleft lip/palate-ectodermal dysplasia syndrome 0.051692262291908264 +7680 182150 Simosa craniofacial syndrome 0.051667600870132446 +7681 619827 Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 0.051660604774951935 +7682 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 0.051639996469020844 +7683 602400 Ichthyosis, congenital, autosomal recessive 11 0.051631391048431396 +7684 615074 Mental retardation, autosomal dominant 18 0.05152120068669319 +7685 203330 Pseudohypoparathyroidism, type II 0.05148512125015259 +7686 616295 Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 0.05148472636938095 +7687 101000 Neurofibromatosis, type II 0.05130806192755699 +7688 608629 Joubert syndrome 3 0.05128762498497963 +7689 618087 Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 0.05127947777509689 +7690 619880 Neurodevelopmental disorder with poor growth and skeletal anomalies 0.05122831463813782 +7691 600920 Van den Ende-Gupta syndrome 0.05121692270040512 +7692 180700 Robinow syndrome, autosomal dominant 1 0.05117829144001007 +7693 154780 Marshall syndrome 0.051158636808395386 +7694 304120 Otopalatodigital syndrome, type II 0.05115099623799324 +7695 614594 Olmsted syndrome 1 0.05111067742109299 +7696 616351 Mental retardation, autosomal dominant 34 0.05086915194988251 +7697 617412 Brachycephaly, trichomegaly, and developmental delay 0.05085625499486923 +7698 193500 Waardenburg syndrome, type 1 0.05072127655148506 +7699 619877 Dentici-Novelli neurodevelopmental syndrome 0.05072122439742088 +7700 217100 Constricting bands, congenital 0.05068834125995636 +7701 614409 Spastic paraplegia 46, autosomal recessive 0.0505996011197567 +7702 613783 Complement component c1s deficiency 0.05059344694018364 +7703 618272 Global developmental delay, lung cysts, overgrowth, and wilms tumor 0.05040380358695984 +7704 613604 Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb 0.05038974806666374 +7705 614222 Warburg micro syndrome 3 0.05027659609913826 +7706 610188 Joubert syndrome 5 0.050267405807971954 +7707 605627 Cerebrooculonasal syndrome 0.05021976679563522 +7708 154500 Treacher Collins syndrome 1 0.05018354952335358 +7709 612651 ENDOCRINE-CEREBROOSTEODYSPLASIA 0.05015057325363159 +7710 300869 Chromosome xq27.3-q28 duplication syndrome 0.05013829097151756 +7711 301039 Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type 0.05010910704731941 +7712 156610 Skin creases, congenital symmetric circumferential, 1 0.05008265748620033 +7713 618505 Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0.050074100494384766 +7714 610256 Anterior segment dysgenesis 2 0.05006716772913933 +7715 610828 Holoprosencephaly 7 0.05006035044789314 +7716 312600 Retinitis pigmentosa 2, X-linked 0.05005604028701782 +7717 228300 Hypogonadotropic hypogonadism 23 without anosmia 0.0500466451048851 +7718 619124 Developmental and epileptic encephalopathy 89 0.05003538727760315 +7719 145500 Hypertension, essential 0.04998324066400528 +7720 616680 Spastic paraplegia 75, autosomal recessive 0.04995502904057503 +7721 619736 Teebi hypertelorism syndrome 2 0.04989466443657875 +7722 609195 Spastic paraplegia 26, autosomal recessive 0.04987708479166031 +7723 305800 Membranoproliferative glomerulonephritis, X-linked 0.04987607151269913 +7724 129500 Clouston syndrome 0.049829769879579544 +7725 148050 KBG syndrome 0.04982198774814606 +7726 108145 Arthrogryposis, distal, type 5 0.04974042996764183 +7727 203100 Albinism, oculocutaneous, type IA 0.0497208908200264 +7728 229400 Frontofacionasal dysplasia 0.04967581480741501 +7729 615491 Spastic paraplegia 79, autosomal recessive 0.04967300966382027 +7730 103285 Adult syndrome 0.04967264086008072 +7731 211380 Elsahy-Waters syndrome 0.0496501699090004 +7732 619244 Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism 0.04960910230875015 +7733 602483 Auriculocondylar syndrome 1 0.04960238188505173 +7734 313200 Spinal and bulbar muscular atrophy, X-linked 1 0.04958193749189377 +7735 254200 Myasthenia gravis 0.04925485700368881 +7736 616393 Intellectual developmental disorder, autosomal dominant 38 0.049175817519426346 +7737 300895 Ohdo syndrome, X-linked 0.04914427548646927 +7738 601552 Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs 0.049093786627054214 +7739 617281 Epileptic encephalopathy, early infantile, 49 0.04890581965446472 +7740 301030 Van Esch-O'Driscoll syndrome 0.048832859843969345 +7741 613843 Leber congenital amaurosis 15 0.04883065074682236 +7742 618729 Liang-Wang syndrome 0.04880792275071144 +7743 300967 Mental retardation, X-linked, syndromic 34 0.04873599857091904 +7744 300831 CK syndrome 0.04849788174033165 +7745 263650 Popliteal pterygium syndrome, Bartsocas-Papas type 1 0.048385899513959885 +7746 200110 Ablepharon-Macrostomia syndrome 0.048231594264507294 +7747 607454 Spinocerebellar ataxia 21 0.048159319907426834 +7748 164200 Oculodentodigital dysplasia 0.04814212769269943 +7749 616688 Charcot-Marie-Tooth disease, axonal, type 2Z 0.048088885843753815 +7750 617773 Intellectual developmental disorder, autosomal recessive 61 0.04794364422559738 +7751 186500 Multiple synostoses syndrome 1 0.047925692051649094 +7752 603457 Bosma arhinia microphthalmia syndrome 0.047862742096185684 +7753 125250 Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 0.04783539101481438 +7754 618527 Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features 0.04768916964530945 +7755 220500 Doors syndrome 0.047505687922239304 +7756 614941 Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive 0.04748207703232765 +7757 616078 Mental retardation, autosomal dominant 29 0.047455333173274994 +7758 613544 Chromosome 6q11-q14 deletion syndrome 0.04743601754307747 +7759 608553 Leber congenital amaurosis 9 0.04722524806857109 +7760 300291 Ectodermal dysplasia and immunodeficiency 1 0.04719061031937599 +7761 618479 Cerebellar, ocular, craniofacial, and genital syndrome 0.04710607975721359 +7762 615145 Microphthalmia, isolated, with coloboma 9 0.04708266630768776 +7763 619103 Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities 0.046988002955913544 +7764 613458 Chromosome 16p13.3 duplication syndrome 0.04682198911905289 +7765 267750 Knobloch syndrome, type 1 0.046772439032793045 +7766 515000 Chloramphenicol toxicity 0.046758074313402176 +7767 302800 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 0.04658595100045204 +7768 616788 Orofacial cleft 15 0.046571459621191025 +7769 300804 Joubert syndrome 10 0.046464703977108 +7770 148210 Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant 0.046373236924409866 +7771 601803 Pallister-Killian syndrome 0.04626590013504028 +7772 300988 Immunodeficiency 50 0.04625541716814041 +7773 300958 Intellectual developmental disorder, X-linked, syndrome, snijders Blok type 0.04619431868195534 +7774 618004 Epileptic encephalopathy, early infantile, 64 0.04614998400211334 +7775 110100 Blepharophimosis, epicanthus inversus, and ptosis 0.046098850667476654 +7776 300863 Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 0.045768000185489655 +7777 224750 Schopf-Schulz-Passarge syndrome 0.0455472357571125 +7778 616544 Retinitis pigmentosa 73 0.04551319777965546 +7779 300919 Mental retardation, X-linked 99 0.045472174882888794 +7780 617330 Hypotonia, ataxia, and delayed development syndrome 0.04541271924972534 +7781 305450 Opitz-Kaveggia syndrome 0.045250508934259415 +7782 619580 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures 0.04518665373325348 +7783 310350 Myelolymphatic insufficiency 0.04517406225204468 +7784 314390 VACTERL association, X-linked 0.04515104740858078 +7785 612513 Chromosome 2p16.1-p15 deletion syndrome 0.044910743832588196 +7786 300539 Nephrogenic syndrome of inappropriate antidiuresis 0.044841017574071884 +7787 300896 Congenital disorder of glycosylation, type IIm 0.04477323591709137 +7788 614527 Chromosome 17q12 deletion syndrome 0.044768352061510086 +7789 300695 Scapuloperoneal myopathy, X-linked dominant 0.04471764713525772 +7790 301043 Holoprosencephaly 13, X-linked 0.04427959769964218 +7791 619320 Intellectual developmental disorder, autosomal dominant 65 0.04426068440079689 +7792 301041 Wieacker-Wolff syndrome, female-restricted 0.044222258031368256 +7793 310440 Myopathy, X-linked, with excessive autophagy 0.04415837675333023 +7794 601357 Brachial amelia, cleft lip, and holoprosencephaly 0.04407947510480881 +7795 301058 Developmental and epileptic encephalopathy 90 0.043933525681495667 +7796 613174 Chromosome 5p13 duplication syndrome 0.043862033635377884 +7797 300590 Cornelia de Lange syndrome 2 0.04380696266889572 +7798 616468 Exudative vitreoretinopathy 6 0.043529391288757324 +7799 616734 Skin creases, congenital symmetric circumferential, 2 0.04318063333630562 +7800 300717 Myopathy, reducing body, X-linked, early-onset, severe 0.04317249730229378 +7801 610978 Choreoathetosis, hypothyroidism, and neonatal respiratory distress 0.04313364624977112 +7802 613451 Frontonasal dysplasia 2 0.04307005554437637 +7803 314580 Wieacker-Wolff syndrome 0.04287370294332504 +7804 300953 Trichothiodystrophy 5, nonphotosensitive 0.04285401105880737 +7805 254400 Mycosis fungoides 0.04279367998242378 +7806 620107 Orofaciodigital syndrome XIX 0.04272990673780441 +7807 113650 Branchiootorenal syndrome 1 0.042649656534194946 +7808 606842 Cardioneuromyopathy with hyaline masses and nemaline rods 0.042644202709198 +7809 612582 Chromosome 6pter-p24 deletion syndrome 0.042554330080747604 +7810 608670 Robin sequence, distinctive facial appearance, and brachydactyly 0.042351629585027695 +7811 136580 Fragile site 16q22 0.04215800389647484 +7812 619851 Leukodystrophy, hypomyelinating, 24 0.042136263102293015 +7813 300968 Mental retardation, X-linked 99, syndromic, female-restricted 0.04208378866314888 +7814 159595 Myeloproliferative syndrome, transient 0.04192435368895531 +7815 300615 Brunner syndrome 0.04162110760807991 +7816 300672 Developmental and epileptic encephalopathy 2 0.04140213876962662 +7817 300963 Ritscher-Schinzel syndrome 2 0.04140065982937813 +7818 608049 Autism, susceptibility to, 3 0.041268326342105865 +7819 300472 Corpus callosum, agenesis of, with mental retardation, ocular coloboma,and micrognathia 0.0410379096865654 +7820 309801 Linear skin defects with multiple congenital anomalies 1 0.04067310690879822 +7821 604809 Panbronchiolitis, diffuse 0.04058830067515373 +7822 608545 Larsen-Like syndrome 0.0404893197119236 +7823 618905 Silver-Russell syndrome 2 0.04039061442017555 +7824 257980 Odontoonychodermal dysplasia 0.04015643149614334 +7825 113970 Burkitt lymphoma 0.040143199265003204 +7826 149730 Lacrimoauriculodentodigital syndrome-1 0.04009614512324333 +7827 601707 Curry-Jones syndrome 0.04007653146982193 +7828 313400 Spondyloepiphyseal dysplasia tarda, X-linked 0.03996944800019264 +7829 620098 Developmental delay with variable intellectual disability and dysmorphic facies 0.03988835960626602 +7830 300244 Terminal osseous dysplasia 0.03988375887274742 +7831 300978 Tonne-Kalscheuer syndrome 0.039343446493148804 +7832 611913 Chromosome 16p11.2 deletion syndrome, 593-kb 0.039311934262514114 +7833 301071 Thrombophilia 13, X-linked, due to factor VIII defect 0.039092861115932465 +7834 129900 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome1 0.03898284584283829 +7835 619539 Neuroocular syndrome 0.038940686732530594 +7836 604292 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 0.03893154487013817 +7837 304050 Aicardi syndrome 0.038882724940776825 +7838 612109 Oculoauricular syndrome 0.03882614150643349 +7839 305100 Ectodermal dysplasia 1, hypohidrotic, X-linked 0.038560885936021805 +7840 129400 Rapp-Hodgkin syndrome 0.038469452410936356 +7841 192200 Varicose veins 0.03846495971083641 +7842 185300 Sturge-Weber syndrome 0.03812653571367264 +7843 300699 Mental retardation, X-linked 94 0.03797784075140953 +7844 300209 Simpson-Golabi-Behmel syndrome, type 2 0.03784046322107315 +7845 601367 Ischemic stroke, susceptibility to 0.03783171996474266 +7846 614846 Tetrasomy 15q26 0.037739694118499756 +7847 300886 Mental retardation, X-linked, syndromic 32 0.037362225353717804 +7848 613509 Chromosome 4q21 deletion syndrome 0.037358105182647705 +7849 308350 Developmental and epileptic encephalopathy 1 0.0373210608959198 +7850 603829 Ventricular fibrillation, familial, 1 0.03686651960015297 +7851 613913 Lipodystrophy, partial, acquired, with low complement component C3, with or without glomerulonephritis 0.03664901480078697 +7852 310400 Myopathy, centronuclear, X-linked 0.03626582399010658 +7853 220200 Dandy-Walker syndrome 0.036124713718891144 +7854 613949 Okt4 epitope deficiency 0.03598981350660324 +7855 601076 Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracicsomite anomalies 0.03576278313994408 +7856 601666 Diabetes mellitus, insulin-dependent, 15 0.035659562796354294 +7857 258040 OEIS complex 0.035636432468891144 +7858 301835 Arts syndrome 0.03544772416353226 +7859 209885 Barber-Say syndrome 0.03540264815092087 +7860 300232 Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration 0.035149961709976196 +7861 300523 Allan-Herndon-Dudley syndrome 0.035098470747470856 +7862 312060 Properdin deficiency, X-linked 0.035098087042570114 +7863 601853 Gomez-Lopez-Hernandez syndrome 0.03484596684575081 +7864 312863 Combined immunodeficiency, X-linked 0.03459024801850319 +7865 300100 Adrenoleukodystrophy 0.034579452127218246 +7866 311300 Otopalatodigital syndrome, type I 0.034453921020030975 +7867 301044 Developmental and epileptic encephalopathy 85, with or without midline brain defects 0.03440313786268234 +7868 301900 Borjeson-Forssman-Lehmann syndrome 0.03358817845582962 +7869 609993 Osteosclerosis - ichthyosis - premature ovarian failure 0.03346308320760727 +7870 601759 Preaxial hallucal polydactyly 0.03330475836992264 +7871 611867 Chromosome 22q11.2 deletion syndrome, distal 0.03324371203780174 +7872 306300 Granulomas, congenital cerebral 0.033232275396585464 +7873 308700 Hypogonadotropic hypogonadism 1 with or without anosmia 0.03313060477375984 +7874 308990 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 0.03311615064740181 +7875 308300 Incontinentia pigmenti 0.03254096210002899 +7876 616606 Ring chromosome 14 syndrome 0.032470110803842545 +7877 300000 Opitz GBBB syndrome 0.03241889178752899 +7878 177900 Psoriasis 1, susceptibility to 0.032291755080223083 +7879 608631 Asperger syndrome, susceptibility to, 2 0.03224974125623703 +7880 608638 Asperger syndrome, susceptibility to, 1 0.032045356929302216 +7881 308205 IFAP syndrome with or without BRESHECK syndrome 0.03185237571597099 +7882 613001 Encephalocraniocutaneous lipomatosis 0.031682342290878296 +7883 309500 Renpenning syndrome 0.03159790486097336 +7884 305620 Frontometaphyseal dysplasia 0.031494397670030594 +7885 304110 Craniofrontonasal syndrome 0.031204337254166603 +7886 601941 Diabetes mellitus, insulin-dependent, 6 0.031186172738671303 +7887 601942 Diabetes mellitus, insulin-dependent, 10 0.031186172738671303 +7888 209850 Autism susceptibility 1 0.031171545386314392 +7889 607373 Autism, susceptibility to, 8 0.031171545386314392 +7890 300861 Mental retardation, X-linked, syndromic, Chudley-Schwartz type 0.031158458441495895 +7891 614266 Barrett esophagus 0.031017115339636803 +7892 300354 Mental retardation, X-linked, syndromic, Cabezas type 0.030901465564966202 +7893 174800 McCune-Albright syndrome, somatic, mosaic 0.03037530742585659 +7894 608542 Aneurysm, intracranial berry, 2 0.030225194990634918 +7895 165720 Osteoarthritis susceptibility 1 0.029971864074468613 +7896 309520 Lujan-Fryns syndrome 0.02983926795423031 +7897 300624 Fragile X mental retardation syndrome 0.02970418892800808 +7898 607341 Focal cortical dysplasia of taylor 0.029618408530950546 +7899 300858 Mental retardation, X-linked, syndromic 17 0.02959403768181801 +7900 304340 Pettigrew syndrome 0.029575319960713387 +7901 164180 Oculocerebrocutaneous syndrome 0.029552524909377098 +7902 605027 Lymphoma, non-hodgkin, familial 0.02954510599374771 +7903 303350 MASA syndrome 0.029288746416568756 +7904 607832 Focal segmental glomerulosclerosis 3, susceptibility to 0.029037484899163246 +7905 300942 Chromosome Xq26.3 duplication syndrome 0.028873449191451073 +7906 614286 Myelodysplastic syndrome 0.028744040057063103 +7907 602484 Pelvic dysplasia - arthrogryposis of lower limbs 0.02865879237651825 +7908 249400 Neurocutaneous melanosis, somatic 0.028575612232089043 +7909 142700 Developmental dysplasia of the hip 1 0.02857261523604393 +7910 300323 Gout, hprt-related 0.028475992381572723 +7911 300971 Bartter syndrome, type 5, antenatal, transient 0.028201114386320114 +7912 614923 Branched-Chain ketoacid dehydrogenase kinase deficiency 0.02813393995165825 +7913 610910 Pulmonary alveolar proteinosis, acquired 0.028101112693548203 +7914 301095 Intellectual developmental disorder, X-linked 110 0.02795048989355564 +7915 300887 Linear skin defects with multiple congenital anomalies 2 0.027911962941288948 +7916 615619 CHOLANGIOCARCINOMA 0.027749618515372276 +7917 300055 Mental retardation, X-linked, syndromic 13 0.027746153995394707 +7918 609037 Mental retardation with optic atrophy, facial dysmorphism, microcephaly,and short stature 0.027621258050203323 +7919 309585 Wilson-Turner syndrome 0.027291346341371536 +7920 302500 Spinocerebellar ataxia, X-linked 1 0.027265291661024094 +7921 302803 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia 0.02726440317928791 +7922 302950 Chondrodysplasia punctata 1, X-linked recessive 0.02724895440042019 +7923 300909 Acquired angioedema 0.02712630294263363 +7924 305600 Focal dermal hypoplasia 0.027105342596769333 +7925 300860 Mental retardation, X-linked, syndromic, Nascimento type 0.026653099805116653 +7926 304700 Mohr-Tranebjaerg syndrome 0.026563426479697227 +7927 105835 Angel-Shaped phalangoepiphyseal dysplasia 0.026512080803513527 +7928 602440 Amyotrophy, monomelic 0.026478048413991928 +7929 612520 Diabetes mellitus, insulin-dependent, 20 0.026372889056801796 +7930 602562 Mandibulofacial dysostosis with macroblepharon and macrostomia 0.026079775765538216 +7931 300489 Spinal muscular atrophy, distal, X-linked 3 0.02596392296254635 +7932 126200 Multiple sclerosis, susceptibility to 0.025931566953659058 +7933 307830 Hypouricemia, familial renal, due to tubular hypersecretion 0.025738483294844627 +7934 117100 Centralopathic epilepsy 0.02548830769956112 +7935 606711 Specific language impairment 1 0.02538968063890934 +7936 606712 Specific language impairment 2 0.025324568152427673 +7937 136570 Chromosome 16p12.1 deletion syndrome, 520kb 0.025260258466005325 +7938 613347 Pancreatic cancer, susceptibility to, 2 0.025210389867424965 +7939 142340 Diaphragmatic hernia, congenital 0.02499307692050934 +7940 260910 Perifolliculitis capitis abscedens et suffodiens, familial 0.024979770183563232 +7941 607499 Bulimia nervosa, susceptibility to, 1 0.024776039645075798 +7942 607597 Microphthalmia with cyst, bilateral facial clefts, and limb anomalies 0.0246211476624012 +7943 103780 Alcohol dependence 0.02433076873421669 +7944 606864 Carney-Stratakis syndrome 0.024217639118433 +7945 151400 Leukemia, chronic lymphocytic 0.024128807708621025 +7946 141300 Hemifacial atrophy, progressive 0.023866506293416023 +7947 300471 Cubitus valgus with mental retardation and unusual facies 0.023818468675017357 +7948 151380 Leukemia, acute monocytic 0.023704852908849716 +7949 151430 B-CELL CLL/LYMPHOMA 2 0.023663844913244247 +7950 104000 Alopecia areata 1 0.023546818643808365 +7951 300337 Hypomelanosis of Ito 0.023502681404352188 +7952 609256 Myopia 7 0.023374438285827637 +7953 614687 Alar cleft, isolated 0.023356547579169273 +7954 144700 Renal cell carcinoma, nonpapillary 0.023341292515397072 +7955 304100 Corpus callosum, partial agenesis of, X-linked 0.02331571653485298 +7956 610713 Brachydactyly-Syndactyly syndrome 0.023127194494009018 +7957 300888 Hypothyroidism, central, and testicular enlargement 0.023068394511938095 +7958 307000 Hydrocephalus due to congenital stenosis of aqueduct of sylvius 0.023053815588355064 +7959 314600 Wildervanck syndrome 0.022952541708946228 +7960 613065 Leukemia, acute lymphocytic, susceptibility to, 1 0.02292628027498722 +7961 615538 Chromosome 22q13 duplication syndrome 0.022610144689679146 +7962 300271 Mental retardation, X-linked 72 0.022491086274385452 +7963 300872 Autism, susceptibility to, X-linked 6 0.022451894357800484 +7964 312830 Scarf syndrome 0.022201504558324814 +7965 167500 Palatopharyngeal incompetence 0.02169393189251423 +7966 114700 Carabelli anomaly of maxillary molar teeth 0.021640976890921593 +7967 613705 Orofacial cleft 10 0.02161525748670101 +7968 300636 Immunodeficiency 33 0.021590210497379303 +7969 613270 Corneal dystrophy, fuchs endothelial, 6 0.021092837676405907 +7970 300068 Androgen insensitivity syndrome 0.021078353747725487 +7971 301024 Intellectual developmental disorder, X-linked 108 0.021077977493405342 +7972 613123 Brugada syndrome 8 0.02071147784590721 +7973 311510 Waisman syndrome 0.020570503547787666 +7974 300623 Fragile X tremor/ataxia syndrome 0.020524349063634872 +7975 600263 Helicobacter pylori infection, susceptibility to 0.02042688988149166 +7976 300607 Developmental and epileptic encephalopathy 8 0.02019995078444481 +7977 300894 Neurodegeneration with brain iron accumulation 5 0.02007000707089901 +7978 613659 Gastric cancer, somatic 0.01997210457921028 +7979 601224 Potocki-Shaffer syndrome 0.01980171911418438 +7980 300114 Raynaud-Claes syndrome 0.01954459771513939 +7981 609939 Systemic lupus erythematosus, susceptibility to, 6 0.019209692254662514 +7982 300977 Scholte syndrome 0.019191885367035866 +7983 309548 Mental retardation, X-linked, associated with fragile site fraxe 0.01900135912001133 +7984 303110 Xq21 deletion syndrome 0.018713083118200302 +7985 300238 Mental retardation, X-linked, syndromic 11 0.018347032368183136 +7986 300423 Mental retardation, X-linked, syndromic, Hedera type 0.01816950924694538 +7987 300558 Intellectual developmental disorder, X-linked 30 0.017956383526325226 +7988 300484 Orofaciodigital syndrome VIII 0.017828362062573433 +7989 300486 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 0.01770368590950966 +7990 614569 Multiple enchondromatosis, Maffucci type 0.01769012212753296 +7991 300518 Intellectual developmental disorder, X-linked 82 0.017620742321014404 +7992 300983 Mental retardation, X-linked 104 0.017436061054468155 +7993 300388 Polymicrogyria, bilateral perisylvian 0.01731054112315178 +7994 108010 Arteriovenous malformation of the brain, somatic 0.01697707176208496 +7995 301029 Shukla-Vernon syndrome 0.016897162422537804 +7996 302802 Charcot-Marie-Tooth disease, X-linked recessive, 3 0.016881775110960007 +7997 107700 Appendicitis, proneness to 0.01683134399354458 +7998 309530 Mental retardation, X-linked 1 0.01676480658352375 +7999 613743 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 0.016705693677067757 +8000 300578 Chromosome xp11.3 deletion syndrome 0.01668577454984188 +8001 301026 Keipert syndrome 0.01603679731488228 +8002 604919 Becker nevus syndrome 0.015848876908421516 +8003 300619 Cataract, ataxia, short stature, and mental retardation 0.015778711065649986 +8004 301075 Myopathy, distal, 7, adult-onset, X-linked 0.01572241634130478 +8005 306960 Hhhh syndrome 0.015519117005169392 +8006 312920 Spastic paraplegia 2, X-linked 0.015422305092215538 +8007 612244 Inflammatory bowel disease 13 0.015276974998414516 +8008 612278 Inflammatory bowel disease 19 0.015276974998414516 +8009 314300 Torticollis, keloids, cryptorchidism, and renal dysplasia 0.015158752910792828 +8010 309510 Partington syndrome 0.014843592420220375 +8011 127800 Dysplasia epiphysealis hemimelica 0.01455729454755783 +8012 306980 Hirschsprung disease with type D brachydactyly 0.014546866528689861 +8013 300997 Mental retardation, X-linked 106 0.014194289222359657 +8014 300491 Epilepsy, X-linked, with variable learning disabilities and behavior disorders 0.014010033570230007 +8015 137245 Gastric lymphoma, primary 0.013765165582299232 +8016 611771 Lipoprotein glomerulopathy 0.013544740155339241 +8017 189960 Tracheoesophageal fistula with or without esophageal atresia 0.013521471060812473 +8018 300614 Deafness, X-linked 5 0.01327580027282238 +8019 613024 Follicular lymphoma, susceptibility to, 1 0.013113528490066528 +8020 300818 Paroxysmal nocturnal hemoglobinuria 0.01305294968187809 +8021 310468 Nephrolithiasis, type I 0.01276828721165657 +8022 312700 Retinoschisis 1, X-linked, juvenile 0.012763681821525097 +8023 300801 Chromosome xp11.23-p11.22 duplication syndrome 0.012757375836372375 +8024 226810 Celiac disease, epilepsy and cerebral calcification syndrome 0.012683380395174026 +8025 300982 Mental retardation, X-linked 103 0.012614008970558643 +8026 187395 Teratocarcinoma-Derived growth factor 1 0.012340022251009941 +8027 300266 Spastic paraplegia 16, X-linked 0.012339688837528229 +8028 615236 Woods syndrome 0.01233548205345869 +8029 300263 Siderius X-linked mental retardation syndrome 0.012204799801111221 +8030 300387 Mental retardation, X-linked 63 0.011917571537196636 +8031 300505 Mental retardation, X-linked 84 0.011872617527842522 +8032 611494 Atrial fibrillation, familial, 5 0.011672227643430233 +8033 606690 LYMPHANGIOLEIOMYOMATOSIS 0.011643466539680958 +8034 113670 Breast, unilateral giant 0.011600133962929249 +8035 618727 Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic 0.011584628373384476 +8036 300659 Mental retardation, X-linked 93 0.011534436605870724 +8037 314100 Thumbs, congenital clasped 0.011492181569337845 +8038 300928 Mental retardation, X-linked 101 0.011378683149814606 +8039 308800 Keratosis follicularis spinulosa decalvans, X-linked 0.011165671050548553 +8040 600559 Hydrocephalus, endocardial fibroelastosis, and cataracts 0.011092005297541618 +8041 612900 Cerebral palsy, spastic quadriplegic, 2 0.011076669208705425 +8042 612242 Chromosome 10q22.3-q23.2 deletion syndrome 0.011047888547182083 +8043 221995 Nephrogenic diabetes insipidus - intracranial calcification 0.010922279208898544 +8044 615107 Cowden syndrome 4 0.01091303862631321 +8045 400045 46XX sex reversal 1 0.010874256491661072 +8046 609579 Familial scaphocephaly syndrome, Mcgillivray type 0.010844933800399303 +8047 300498 Mental retardation, X-linked 45 0.010692737065255642 +8048 302801 Charcot-Marie-Tooth disease, X-linked recessive, 2 0.010368868708610535 +8049 619477 Facioscapulohumeral muscular dystrophy 3, digenic 0.010187670588493347 +8050 300143 Mental retardation, X-linked 21 0.010088716633617878 +8051 606960 Insulinoma tumor suppressor gene locus 0.010045376606285572 +8052 614090 Sick sinus syndrome 3 0.010020744986832142 +8053 155050 Maxillonasal dysplasia, Binder type 0.009771453216671944 +8054 309549 Mental retardation, X-linked 9 0.009662835858762264 +8055 307150 Hypertrichosis, congenital generalized 0.009649419225752354 +8056 269160 SCHIZENCEPHALY 0.009503721259534359 +8057 300830 Autism, susceptibility to, X-linked 4 0.009008592925965786 +8058 300991 Ciliary dyskinesia, primary, 36, X-linked 0.008962034247815609 +8059 603855 Cystic fibrosis, modifier of, 1 0.008927994407713413 +8060 300455 Retinitis pigmentosa, X-linked, and sinorespiratory infections, withor without deafness 0.008855083025991917 +8061 301035 Hypothyroidism, congenital, nongoitrous, 9 0.008600173518061638 +8062 305390 Exudative vitreoretinopathy 2, X-linked 0.008191055618226528 +8063 312300 Reifenstein syndrome 0.008031968027353287 +8064 155500 Macrodactyly, somatic 0.008009393699467182 +8065 309630 Metacarpal 4-5 fusion 0.007901803590357304 +8066 302350 Nance-Horan syndrome 0.007896695286035538 +8067 300911 Parkinsonism with spasticity, X-linked 0.007569653447717428 +8068 300419 Mental retardation, X-linked, with or without seizures, arx-related 0.007400562521070242 +8069 300424 Retinitis pigmentosa 23 0.007390029728412628 +8070 300645 Atypical mycobacteriosis, familial, X-linked 2 0.007371191401034594 +8071 300703 Spinocerebellar ataxia, X-linked 5 0.00736692501232028 +8072 301845 Bazex syndrome 0.007325014099478722 +8073 300905 Charcot-Marie-Tooth disease, X-linked dominant, 6 0.007222183048725128 +8074 300750 Spastic paraplegia 34, X-linked 0.007121380418539047 +8075 158901 Facioscapulohumeral muscular dystrophy 2 0.007063956931233406 +8076 301051 Immunodeficiency 74, COVID19-related, X-linked 0.006708861328661442 +8077 133239 Esophageal cancer, somatic 0.006685458589345217 +8078 612229 Colorectal cancer, susceptibility to, 3 0.006662555038928986 +8079 314250 Dystonia 3, torsion, X-linked 0.006486046593636274 +8080 300848 Mental retardation, X-linked 89 0.006157214287668467 +8081 300923 Mental retardation, X-linked 100 0.006096576806157827 +8082 602197 Cerebellar degeneration-related autoantigen 3 0.006095953285694122 +8083 300216 Coats disease 0.00596370967105031 +8084 613342 Brachydactylous dwarfism, Mseleni type 0.005954720079898834 +8085 300984 Mental retardation, X-linked 105 0.005847424268722534 +8086 159580 Myelopathy, htlv-1-associated 0.005694153252989054 +8087 215300 Chondrosarcoma 0.005473855882883072 +8088 612237 Chondrosarcoma, extraskeletal myxoid 0.005473855882883072 +8089 300802 Mental retardation, X-linked 96 0.005453949794173241 +8090 300454 Intellectual developmental disorder, X-linked 77 0.0054018995724618435 +8091 310600 Norrie disease 0.005337339825928211 +8092 259500 Osteosarcoma 0.005263921804726124 +8093 615346 Precocious puberty, central, 2 0.005087436176836491 +8094 301200 Amelogenesis imperfecta, type IE 0.004993621725589037 +8095 603688 Prostate cancer/brain cancer susceptibility 0.004940870217978954 +8096 208158 Arthrogryposis - hyperkeratosis, lethal form 0.0049099549651145935 +8097 313000 Spatial visualization, aptitude for 0.0045609502121806145 +8098 120050 Coxsackievirus B3 susceptibility 0.004546112846583128 +8099 300918 Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked 0.004371405579149723 +8100 300511 Premature ovarian failure 2A 0.004353565163910389 +8101 313500 Tooth agenesis, selective, X-linked, 1 0.004292633384466171 +8102 300433 Mental retardation, X-linked 81 0.004083541687577963 +8103 300324 Mental retardation, X-linked 53 0.004083541687577963 +8104 300046 Mental retardation, X-linked 23 0.004083541687577963 +8105 300436 Mental retardation, X-linked 46 0.003929325379431248 +8106 300843 Bornholm eye disease 0.0037896246649324894 +8107 300210 Mental retardation, X-linked 58 0.0037892870604991913 +8108 301018 Deafness, X-linked 7 0.00371866044588387 +8109 167300 Paget disease, extramammary 0.0037146550603210926 +8110 608175 Autoimmune thyroid disease, susceptibility to, 3 0.0036703397054225206 +8111 310800 Nystagmus, myoclonic 0.0035350157413631678 +8112 309200 Major affective disorder 2 0.003420152235776186 +8113 613825 Complement component 9 deficiency 0.0032565034925937653 +8114 137550 Melanocytic nevus syndrome, congenital 0.003225910710170865 +8115 300082 Cognitive function 1, social 0.0031580275390297174 +8116 158280 Motion sickness 0.0031580275390297174 +8117 612310 Premature ovarian failure 6 0.0030524269677698612 +8118 612965 46XY sex reversal 3 0.0029725152999162674 +8119 612964 Premature ovarian failure 7 0.002969243796542287 +8120 606840 Faciomandibular myoclonus, nocturnal 0.0027943856548517942 +8121 308100 Ichthyosis, X-linked 0.0027692446019500494 +8122 300262 X-LINKED intellectual disability, Abidi type 0.0026607271283864975 +8123 277990 Intellectual disability, Wolff type 0.0026607271283864975 +8124 300709 X-LINKED intellectual disability, Shrimpton type 0.0026607271283864975 +8125 300218 Syndromic X-linked intellectual disability 7 0.0026607271283864975 +8126 619478 Facioscapulohumeral muscular dystrophy 4, digenic 0.0025375739205628633 +8127 179400 Radius, aplasia of, with cleft lip/palate 0.002500333124771714 +8128 303700 Blue cone monochromacy 0.0023735230788588524 +8129 300476 Cone-Rod dystrophy, X-linked, 3 0.0020100062247365713 +8130 137763 Glaucoma - sleep apnea 0.0018895906396210194 +8131 608516 Major depressive disorder 0.0018112120451405644 +8132 610187 Diaphragmatic hernia 3 0.001741601969115436 +8133 306950 Hernia, anterior diaphragmatic 0.00167193787638098 +8134 300778 Corneal dystrophy, lisch epithelial 0.0015744224656373262 +8135 304500 Deafness, X-linked 1 0.0015678456984460354 +8136 300833 46,xx sex reversal 3 0.0015644910745322704 +8137 300030 Deafness, X-linked 3 0.0015630954876542091 +8138 300273 Goiter, multinodular 2 0.0015512806130573153 +8139 303900 Colorblindness, partial, protan series 0.0015486757038161159 +8140 300245 Ptosis, hereditary congenital 2 0.0015412102220579982 +8141 300834 Macular degeneration, X-linked atrophic 0.0015172215644270182 +8142 303800 Colorblindness, deutan 0.0014891113387420774 +8143 300758 Hypospadias 2, X-linked 0.0014868122525513172 +8144 300633 Hypospadias 1, X-linked 0.0014868122525513172 +8145 300779 Corneal dystrophy, endothelial, X-linked 0.0014624244067817926 +8146 300066 Deafness, X-linked 4 0.001460308558307588 +8147 300814 Nystagmus 6, congenital, X-linked 0.0014581074938178062 +8148 300914 Deafness, X-linked 6 0.0014483859995380044 +8149 310500 Night blindness, congenital stationary, type 1A 0.0014201151207089424 +8150 300589 Nystagmus 5, congenital, X-linked 0.0014160886639729142 +8151 301060 Azoospermia, obstructive, with nephrolithiasis 0.0014041323447600007 +8152 300719 Deafness, cataract, retinitis pigmentosa, and sperm abnormalities 0.0013799737207591534 +8153 309120 Spermatogenic failure, X-linked 2 0.001348619582131505 +8154 613488 Myxoid liposarcoma 0.0013329727808013558 +8155 300652 Angioma serpiginosum, X-linked 0.0013233671197667718 +8156 304400 Deafness, X-linked 2 0.001309070736169815 +8157 268220 Rhabdomyosarcoma 2, alveolar 0.001305153127759695 +8158 301059 Spermatogenic failure, X-linked, 3 0.001261367229744792 +8159 309300 MEGALOCORNEA 0.0010760771110653877 +8160 180295 Rhabdomyosarcoma, embryonal, 2 0.0007156080682761967 +8161 603956 Cervical cancer 0.00046667552669532597 +8162 156240 Mesothelioma, malignant 0.0004326748021412641 +8163 109200 Alopecia, androgenetic, 1 0.0004251013742759824 +8164 612219 Ewing sarcoma 0.00041643541771918535 +8165 612160 Histiocytoma, angiomatoid fibrous, somatic 0.0004152724868617952 +8166 606243 Alveolar soft part sarcoma 0.0004092491290066391 +8167 300813 Sarcoma, synovial 0.0004092491290066391 +8168 617025 Nevus comedonicus, somatic 0.0004075778997503221 +8169 132600 Pilomatrixoma, somatic 0.00040493771666660905 +8170 182000 Keratosis, seborrheic, somatic 0.000402702484279871 +8171 162900 Epidermal nevus, somatic 0.0004023671499453485 +8172 300854 Renal cell carcinoma, xp11-associated 0.00040089257527142763 +8173 176410 Precocious puberty, male 0.0003948091762140393 +8174 150699 Leiomyoma, uterine 0.00037765048909932375 +8175 606579 Vitiligo-Associated multiple autoimmune disease susceptibility 1 0.00032163664582185447 +8176 610504 Preterm premature rupture of the membranes 0.00030894085648469627 +8177 600625 Orofacial cleft 11 0.0003075449203606695 +8178 611953 Macular degeneration, age-related, 11 0.00030578571022488177 +8179 610149 Macular degeneration, age-related, 7 0.00030578571022488177 +8180 607107 Nasopharyngeal carcinoma 0.0002930558111984283 +8181 612551 Focal segmental glomerulosclerosis 4, susceptibility to 0.00029124965658411384 +8182 609404 Preeclampsia/eclampsia 4 0.0002769527491182089 +8183 425500 HAIRY EARS, Y-LINKED 0.00010821042815223336 +8184 161550 Nasopharyngeal carcinoma 0.00010821042815223336 +8185 139630 Hairy nose tip 6.70237495796755e-05 +8186 609258 Myopia 9 5.552351285587065e-05 +8187 609257 Myopia 8 5.552351285587065e-05 +8188 609259 Myopia 10 5.552351285587065e-05 +8189 185100 Strabismus, susceptibility to 5.041977419750765e-05 +8190 613100 Glaucoma 1, open angle, O 5.029951353208162e-05 +8191 609887 Glaucoma 1, open angle, G 5.029951353208162e-05 +8192 130700 Emphysema, hereditary pulmonary 4.611240728991106e-05 +8193 606963 Pulmonary disease, chronic obstructive 4.175727372057736e-05 +8194 600457 Hypertrichosis, anterior cervical 3.7597907066810876e-05 +8195 400004 RETINITIS PIGMENTOSA, Y-LINKED 3.626513353083283e-05 +8196 605462 Basal cell carcinoma, susceptibility to, 1 3.553767965058796e-05 +8197 124100 Danubian endemic familial nephropathy 3.480861778371036e-05 +8198 607864 Caudal duplication anomaly 3.3041764254448935e-05 +8199 610441 Testicular microlithiasis 3.133440623059869e-05 +8200 613757 Macular degeneration, age-related, 6 3.003434721904341e-05 +8201 613399 Familial breast-ovarian cancer-1 2.757420952548273e-05 +8202 243185 Natal teeth - intestinal pseudoobstruction - patent ductus 2.7553907784749754e-05 +8203 619805 Spermatogenic failure 68 2.6946661819238216e-05 +8204 203340 Microcephaly - albinism - digital anomalies 1.9447503291303292e-05 diff --git a/output/recommended_gene_similarity.tsv b/output/recommended_gene_similarity.tsv new file mode 100644 index 0000000..a6c410e --- /dev/null +++ b/output/recommended_gene_similarity.tsv @@ -0,0 +1,5027 @@ +rank id name score +1 80270 HSD3B7 0.5469222664833069 +2 3988 LIPA 0.5420783162117004 +3 6718 AKR1D1 0.5059077739715576 +4 5836 PYGL 0.4555310904979706 +5 570 BAAT 0.44419944286346436 +6 146059 CDAN1 0.43526095151901245 +7 811 CALR 0.43298545479774475 +8 11222 MRPL3 0.42159712314605713 +9 54931 TRMT10C 0.41576626896858215 +10 861 RUNX1 0.4142637252807617 +11 2184 FAH 0.41375160217285156 +12 51520 LARS1 0.41304105520248413 +13 55240 STEAP3 0.4107895493507385 +14 4645 MYO5B 0.40972036123275757 +15 6514 SLC2A2 0.40881404280662537 +16 9493 KIF23 0.40564975142478943 +17 6521 SLC4A1 0.40464428067207336 +18 5313 PKLR 0.4032404124736786 +19 6005 RHAG 0.4025908410549164 +20 6341 SCO1 0.4003438353538513 +21 5261 PHKG2 0.4000955820083618 +22 11311 VPS45 0.39925605058670044 +23 26007 TKFC 0.3959878385066986 +24 3431 SP110 0.3953717350959778 +25 6208 RPS14 0.3932463824748993 +26 130589 GALM 0.3927924931049347 +27 10661 KLF1 0.39118507504463196 +28 2859 GPR35 0.39115068316459656 +29 4485 MST1 0.39115068316459656 +30 10507 SEMA4D 0.39115068316459656 +31 23395 LARS2 0.3903141915798187 +32 7019 TFAM 0.39031127095222473 +33 51081 MRPS7 0.387615442276001 +34 201294 UNC13D 0.3826908767223358 +35 3783 KCNN4 0.3801344931125641 +36 28976 ACAD9 0.3800349831581116 +37 3043 HBB 0.3799254298210144 +38 83706 FERMT3 0.379427045583725 +39 5825 ABCD3 0.37920573353767395 +40 3931 LCAT 0.3782820403575897 +41 5095 PCCA 0.37743479013442993 +42 5096 PCCB 0.37743479013442993 +43 7381 UQCRB 0.3773863613605499 +44 6006 RHCE 0.3772641122341156 +45 4351 MPI 0.375190407037735 +46 57817 HAMP 0.3743322491645813 +47 6609 SMPD1 0.37416964769363403 +48 6813 STXBP2 0.37396544218063354 +49 326625 MMAB 0.3735661804676056 +50 7386 UQCRFS1 0.3725382089614868 +51 8676 STX11 0.37083032727241516 +52 29127 RACGAP1 0.37044259905815125 +53 10165 SLC25A13 0.3703343868255615 +54 8772 FADD 0.3700796067714691 +55 51473 DCDC2 0.36949583888053894 +56 50619 DEF6 0.36702507734298706 +57 950 SCARB2 0.36586815118789673 +58 2153 F5 0.36562854051589966 +59 6811 STX5 0.3652431070804596 +60 2038 EPB42 0.36494338512420654 +61 5244 ABCB4 0.3637264370918274 +62 6427 SRSF2 0.3633689880371094 +63 3717 JAK2 0.3632102906703949 +64 5205 ATP8B1 0.363069623708725 +65 2235 FECH 0.3627624809741974 +66 84529 CDIN1 0.3607885241508484 +67 3376 IARS1 0.36070919036865234 +68 3394 IRF8 0.3605291247367859 +69 51128 SAR1B 0.3600108325481415 +70 80739 MPIG6B 0.3573826551437378 +71 113220 KIF12 0.3560301661491394 +72 5256 PHKA2 0.3557823896408081 +73 5257 PHKB 0.35571181774139404 +74 3047 HBG1 0.35569271445274353 +75 57128 LYRM4 0.35511937737464905 +76 84317 CCDC115 0.35496464371681213 +77 65080 MRPL44 0.3533852696418762 +78 9056 SLC7A7 0.35320520401000977 +79 6708 SPTA1 0.3520170748233795 +80 2592 GALT 0.35160717368125916 +81 5105 PCK1 0.35122594237327576 +82 1738 DLD 0.35103854537010193 +83 55898 UNC45A 0.35087862610816956 +84 6710 SPTB 0.35070163011550903 +85 5551 PRF1 0.35013172030448914 +86 212 ALAS2 0.3491944372653961 +87 55858 TMEM165 0.3490096926689148 +88 2035 EPB41 0.3475607931613922 +89 54790 TET2 0.34725645184516907 +90 2819 GPD1 0.3466557264328003 +91 54938 SARS2 0.34590476751327515 +92 84701 COX4I2 0.3446880877017975 +93 64241 ABCG8 0.3441401422023773 +94 1604 CD55 0.34375420212745667 +95 58484 NLRC4 0.34355586767196655 +96 166785 MMAA 0.34273141622543335 +97 81693 AMN 0.3420814573764801 +98 54532 USP53 0.341773122549057 +99 537 ATP6AP1 0.3417249917984009 +100 9663 LPIN2 0.3415706753730774 +101 7372 UMPS 0.3401658236980438 +102 9842 PLEKHM1 0.3386606276035309 +103 540 ATP7B 0.3383890986442566 +104 4352 MPL 0.3372880816459656 +105 9971 NR1H4 0.3354223668575287 +106 26276 VPS33B 0.33504152297973633 +107 6916 TBXAS1 0.334750235080719 +108 6007 RHD 0.33462879061698914 +109 10056 FARSB 0.3340408504009247 +110 6888 TALDO1 0.33244627714157104 +111 23022 PALLD 0.3320716619491577 +112 285282 RABL3 0.3320716619491577 +113 9414 TJP2 0.33054059743881226 +114 55687 TRMU 0.32858532667160034 +115 2998 GYS2 0.3279581367969513 +116 4547 MTTP 0.3276877701282501 +117 1244 ABCC2 0.3269689381122589 +118 1650 DDOST 0.32634085416793823 +119 3155 HMGCL 0.32616668939590454 +120 3162 HMOX1 0.3256625533103943 +121 4627 MYH9 0.3255893290042877 +122 3033 HADH 0.32497072219848633 +123 283459 GATC 0.32489410042762756 +124 55278 QRSL1 0.32431864738464355 +125 3048 HBG2 0.32336339354515076 +126 3158 HMGCS2 0.3224325478076935 +127 124454 EARS2 0.3224153220653534 +128 200931 SLC51A 0.32206395268440247 +129 55532 SLC30A10 0.3218347132205963 +130 1537 CYC1 0.3218081295490265 +131 2122 MECOM 0.32056185603141785 +132 8647 ABCB11 0.32036662101745605 +133 4358 MPV17 0.3202652633190155 +134 9054 NFS1 0.32016614079475403 +135 5698 PSMB9 0.31992554664611816 +136 5692 PSMB4 0.31992554664611816 +137 147007 TMEM199 0.3190242648124695 +138 10616 RBCK1 0.3190052807331085 +139 79053 ALG8 0.3189697563648224 +140 9966 TNFSF15 0.3170694410800934 +141 5450 POU2AF1 0.3170694410800934 +142 79258 MMEL1 0.3170694410800934 +143 6689 SPIB 0.3170694410800934 +144 5568 PRKACG 0.316300630569458 +145 8328 GFI1B 0.31603744626045227 +146 229 ALDOB 0.3159474730491638 +147 7066 THPO 0.315609335899353 +148 19 ABCA1 0.31502506136894226 +149 7037 TFRC 0.3148283362388611 +150 226 ALDOA 0.3141821324825287 +151 338328 GPIHBP1 0.3125823438167572 +152 123264 SLC51B 0.31242215633392334 +153 8482 SEMA7A 0.3119426369667053 +154 644 BLVRA 0.31162863969802856 +155 55340 GIMAP5 0.31143951416015625 +156 2821 GPI 0.31138792634010315 +157 7018 TF 0.31004709005355835 +158 338 APOB 0.3098507821559906 +159 132 ADK 0.3098229765892029 +160 3702 ITK 0.30939438939094543 +161 3932 LCK 0.30813172459602356 +162 6690 SPINK1 0.30734115839004517 +163 4179 CD46 0.30712175369262695 +164 1794 DOCK2 0.3050558865070343 +165 2995 GYPC 0.30500727891921997 +166 60561 RINT1 0.3048376441001892 +167 3712 IVD 0.30263084173202515 +168 931 MS4A1 0.30239835381507874 +169 8029 CUBN 0.30237677693367004 +170 2203 FBP1 0.3023448884487152 +171 4891 SLC11A2 0.3016303479671478 +172 1616 DAXX 0.3015866279602051 +173 5644 PRSS1 0.30131155252456665 +174 5645 PRSS2 0.30131155252456665 +175 6948 TCN2 0.3011826276779175 +176 11330 CTRC 0.30062398314476013 +177 5009 OTC 0.30030906200408936 +178 51703 ACSL5 0.3003041446208954 +179 8742 TNFSF12 0.3002946376800537 +180 2683 B4GALT1 0.29987698793411255 +181 23451 SF3B1 0.2997123599052429 +182 1777 DNASE2 0.2996158301830292 +183 7385 UQCRC2 0.299497127532959 +184 1374 CPT1A 0.29942333698272705 +185 6773 STAT2 0.2992975413799286 +186 92345 NAF1 0.2984433174133301 +187 50674 NEUROG3 0.29776567220687866 +188 4004 LMO1 0.29766011238098145 +189 238 ALK 0.29766011238098145 +190 389421 LIN28B 0.29766011238098145 +191 7153 TOP2A 0.29766011238098145 +192 84868 HAVCR2 0.2973600924015045 +193 5265 SERPINA1 0.29734551906585693 +194 23218 NBEAL2 0.29658523201942444 +195 30061 SLC40A1 0.2943809926509857 +196 4023 LPL 0.2934766709804535 +197 9420 CYP7B1 0.2923988699913025 +198 10019 SH2B3 0.2916431128978729 +199 9451 EIF2AK3 0.29160362482070923 +200 1352 COX10 0.2910350561141968 +201 11093 ADAMTS13 0.2907601594924927 +202 54977 SLC25A38 0.2906150817871094 +203 359948 IRF2BP2 0.2905683219432831 +204 435 ASL 0.2903987169265747 +205 4864 NPC1 0.2887139916419983 +206 57169 ZNFX1 0.28858834505081177 +207 9780 PIEZO1 0.28817811608314514 +208 6584 SLC22A5 0.28809604048728943 +209 331 XIAP 0.2878086566925049 +210 4522 MTHFD1 0.2877972424030304 +211 23600 AMACR 0.287256121635437 +212 54914 FOCAD 0.28719040751457214 +213 760 CA2 0.2871616780757904 +214 150274 HSCB 0.28681474924087524 +215 4068 SH2D1A 0.2866928279399872 +216 4790 NFKB1 0.28627073764801025 +217 5188 GATB 0.28569886088371277 +218 3594 IL12RB1 0.2856891453266144 +219 2495 FTH1 0.28537312150001526 +220 27034 ACAD8 0.2852827310562134 +221 148738 HJV 0.28405991196632385 +222 197322 ACSF3 0.2839231789112091 +223 2623 GATA1 0.28340572118759155 +224 23495 TNFRSF13B 0.2832493782043457 +225 34 ACADM 0.28278762102127075 +226 1441 CSF3R 0.2824869453907013 +227 84936 ZFYVE19 0.2824406921863556 +228 10320 IKZF1 0.28216615319252014 +229 2624 GATA2 0.2817864418029785 +230 29929 ALG6 0.28159597516059875 +231 115650 TNFRSF13C 0.2814039885997772 +232 51218 GLRX5 0.2807920277118683 +233 975 CD81 0.2807278633117676 +234 2538 G6PC1 0.2799232304096222 +235 5897 RAG2 0.2798004150390625 +236 1719 DHFR 0.27970531582832336 +237 63036 CELA2A 0.27942195534706116 +238 51119 SBDS 0.2794196605682373 +239 25821 MTO1 0.2791934907436371 +240 669 BPGM 0.2781231701374054 +241 6522 SLC4A2 0.2781079113483429 +242 2057 EPOR 0.277872771024704 +243 5699 PSMB10 0.27778497338294983 +244 5314 PKHD1 0.27729135751724243 +245 2056 EPO 0.2771701216697693 +246 79631 EFL1 0.2771208882331848 +247 7504 XK 0.27693501114845276 +248 2811 GP1BA 0.2765325903892517 +249 29851 ICOS 0.2761087119579315 +250 8737 RIPK1 0.2760920524597168 +251 28962 OSTM1 0.2755889296531677 +252 939 CD27 0.2752474844455719 +253 2937 GSS 0.275164932012558 +254 5106 PCK2 0.27510109543800354 +255 10068 IL18BP 0.2750992476940155 +256 1807 DPYS 0.27508750557899475 +257 50617 ATP6V0A4 0.27504733204841614 +258 5236 PGM1 0.27448925375938416 +259 51095 TRNT1 0.27407655119895935 +260 5896 RAG1 0.27364879846572876 +261 374354 NHLRC2 0.27317243814468384 +262 4194 MDM4 0.27300241589546204 +263 1716 DGUOK 0.2725721597671509 +264 2729 GCLC 0.27241772413253784 +265 10699 CORIN 0.27226510643959045 +266 51116 MRPS2 0.272134006023407 +267 125988 MICOS13 0.2720465064048767 +268 101101692 HELLPAR 0.2717720568180084 +269 3172 HNF4A 0.27166464924812317 +270 617 BCS1L 0.2715483009815216 +271 79989 IFT56 0.27133050560951233 +272 2584 GALK1 0.2711488902568817 +273 8565 YARS1 0.2709716260433197 +274 3674 ITGA2B 0.2706417739391327 +275 3117 HLA-DQA1 0.27044039964675903 +276 3875 KRT18 0.2699817419052124 +277 204 AK2 0.2694600820541382 +278 164656 TMPRSS6 0.2690114378929138 +279 7389 UROD 0.26885250210762024 +280 38 ACAT1 0.2686735987663269 +281 375748 ERCC6L2 0.2685798406600952 +282 4141 MARS1 0.2685019373893738 +283 8694 DGAT1 0.26841965317726135 +284 92579 G6PC3 0.2682492733001709 +285 6550 SLC9A3 0.2676891088485718 +286 930 CD19 0.26752743124961853 +287 51311 TLR8 0.2673899829387665 +288 2120 ETV6 0.2672215700149536 +289 23534 TNPO3 0.26699337363243103 +290 191 AHCY 0.2666422426700592 +291 2542 SLC37A4 0.266611784696579 +292 348 APOE 0.2664942443370819 +293 1581 CYP7A1 0.2664104402065277 +294 79783 SUGCT 0.266254723072052 +295 6603 SMARCD2 0.26576322317123413 +296 2130 EWSR1 0.2654992938041687 +297 948 CD36 0.26500430703163147 +298 5294 PIK3CG 0.264731228351593 +299 2193 FARSA 0.26445314288139343 +300 3040 HBA2 0.26439720392227173 +301 6578 SLCO2A1 0.26346004009246826 +302 50943 FOXP3 0.26338645815849304 +303 51099 ABHD5 0.26318594813346863 +304 4594 MMUT 0.26292920112609863 +305 1130 LYST 0.26286423206329346 +306 6714 SRC 0.2627616822719574 +307 788 SLC25A20 0.26271507143974304 +308 81 ACTN4 0.26231080293655396 +309 335 APOA1 0.261783629655838 +310 286053 NSMCE2 0.2616887390613556 +311 2694 CBLIF 0.26156434416770935 +312 6729 SRP54 0.26075246930122375 +313 3032 HADHB 0.26035115122795105 +314 3039 HBA1 0.26029983162879944 +315 213 ALB 0.260128378868103 +316 6850 SYK 0.259968638420105 +317 222546 RFX6 0.2598729431629181 +318 84334 COA8 0.25964856147766113 +319 131118 DNAJC19 0.2594004273414612 +320 55163 PNPO 0.25913500785827637 +321 10112 KIF20A 0.25873857736587524 +322 445 ASS1 0.25831684470176697 +323 85476 GFM1 0.2582482695579529 +324 29887 SNX10 0.25794559717178345 +325 4713 NDUFB7 0.2579430043697357 +326 3492 IGH 0.25751474499702454 +327 5250 SLC25A3 0.25733596086502075 +328 197131 UBR1 0.2573298215866089 +329 2539 G6PD 0.25701549649238586 +330 3055 HCK 0.25685611367225647 +331 9051 PSTPIP1 0.2564215660095215 +332 790 CAD 0.25622376799583435 +333 6523 SLC5A1 0.2561650574207306 +334 6834 SURF1 0.2553049623966217 +335 6476 SI 0.25431710481643677 +336 5651 TMPRSS15 0.25389185547828674 +337 2582 GALE 0.2537986636161804 +338 10166 SLC25A15 0.25347715616226196 +339 4570 MT-TN 0.2531293034553528 +340 199221 DZIP1L 0.2523900866508484 +341 5826 ABCD4 0.25184744596481323 +342 629 CFB 0.25182008743286133 +343 866 SERPINA6 0.2507590353488922 +344 50615 IL21R 0.2506345510482788 +345 4609 MYC 0.2505533993244171 +346 2533 FYB1 0.25051987171173096 +347 3077 HFE 0.24983057379722595 +348 100131801 PET100 0.24930603802204132 +349 22802 CLCA4 0.24899695813655853 +350 6556 SLC11A1 0.24899695813655853 +351 11254 SLC6A14 0.24899695813655853 +352 51164 DCTN4 0.24899695813655853 +353 115019 SLC26A9 0.24899695813655853 +354 2947 GSTM3 0.24899695813655853 +355 1084 CEACAM3 0.24899695813655853 +356 4680 CEACAM6 0.24899695813655853 +357 55788 LMBRD1 0.24865007400512695 +358 2065 ERBB3 0.24847793579101562 +359 11274 USP18 0.2484489530324936 +360 4282 MIF 0.24822013080120087 +361 5914 RARA 0.24816223978996277 +362 4926 NUMA1 0.24816223978996277 +363 27178 IL37 0.24801349639892578 +364 2161 F12 0.24785365164279938 +365 91949 COG7 0.24770016968250275 +366 57511 COG6 0.24764487147331238 +367 7390 UROS 0.24753738939762115 +368 427 ASAH1 0.24740350246429443 +369 7167 TPI1 0.24732619524002075 +370 25839 COG4 0.24728132784366608 +371 1811 SLC26A3 0.24717773497104645 +372 7450 VWF 0.24704281985759735 +373 8600 TNFSF11 0.2466522455215454 +374 55135 WRAP53 0.24638639390468597 +375 37 ACADVL 0.24623610079288483 +376 5589 PRKCSH 0.24541515111923218 +377 5213 PFKM 0.24536867439746857 +378 7056 THBD 0.2452888935804367 +379 189 AGXT 0.24516156315803528 +380 2212 FCGR2A 0.24439096450805664 +381 22852 ANKRD26 0.24413560330867767 +382 10841 FTCD 0.24402742087841034 +383 3030 HADHA 0.24351182579994202 +384 7036 TFR2 0.24326804280281067 +385 2321 FLT1 0.24315570294857025 +386 144811 LACC1 0.24274788796901703 +387 55610 VPS50 0.24194206297397614 +388 6777 STAT5B 0.2417195737361908 +389 3663 IRF5 0.24147404730319977 +390 1890 TYMP 0.24147003889083862 +391 3980 LIG3 0.24133312702178955 +392 116519 APOA5 0.24105161428451538 +393 80324 PUS1 0.24096128344535828 +394 5371 PML 0.24075298011302948 +395 64859 NABP1 0.24075298011302948 +396 81608 FIP1L1 0.24075298011302948 +397 7704 ZBTB16 0.24075298011302948 +398 3818 KLKB1 0.2403583824634552 +399 4552 MTRR 0.24028714001178741 +400 28755 TRAC 0.23950794339179993 +401 93183 PIGM 0.23873445391654968 +402 27040 LAT 0.238630473613739 +403 100147744 RNU7-1 0.23860763013362885 +404 51067 YARS2 0.23832738399505615 +405 28957 MRPS28 0.23825471103191376 +406 3795 KHK 0.23807595670223236 +407 2632 GBE1 0.2377888411283493 +408 54658 UGT1A1 0.23772870004177094 +409 1594 CYP27B1 0.23770771920681 +410 4714 NDUFB8 0.23747937381267548 +411 120227 CYP2R1 0.237357035279274 +412 130340 AP1S3 0.23724479973316193 +413 763 CA5A 0.23697669804096222 +414 23729 SHPK 0.23649467527866364 +415 654 BMP6 0.23627319931983948 +416 2658 GDF2 0.23564545810222626 +417 26119 LDLRAP1 0.23524214327335358 +418 2243 FGA 0.2351205050945282 +419 867 CBL 0.2350817769765854 +420 84693 MCEE 0.23496703803539276 +421 79001 VKORC1 0.23494482040405273 +422 9652 SKIC3 0.23458005487918854 +423 3938 LCT 0.23450002074241638 +424 3921 RPSA 0.2344992458820343 +425 5873 RAB27A 0.2342422753572464 +426 2165 F13B 0.23419710993766785 +427 219736 STOX1 0.23393671214580536 +428 4306 NR3C2 0.23383307456970215 +429 1356 CP 0.23355817794799805 +430 8074 FGF23 0.2332664579153061 +431 3575 IL7R 0.23297061026096344 +432 10577 NPC2 0.2328203171491623 +433 4695 NDUFA2 0.23261268436908722 +434 64087 MCCC2 0.23255127668380737 +435 5880 RAC2 0.2325444519519806 +436 63894 VIPAS39 0.23227469623088837 +437 51103 NDUFAF1 0.23218531906604767 +438 7284 TUFM 0.23148541152477264 +439 2162 F13A1 0.23145516216754913 +440 57107 PDSS2 0.2312900722026825 +441 4869 NPM1 0.23117278516292572 +442 2147 F2 0.23115378618240356 +443 2815 GP9 0.2311173677444458 +444 6573 SLC19A1 0.23101507127285004 +445 8929 PHOX2B 0.23083700239658356 +446 344 APOC2 0.23081932961940765 +447 65057 ACD 0.23076646029949188 +448 54809 SAMD9 0.23068949580192566 +449 83483 PLVAP 0.23061789572238922 +450 3557 IL1RN 0.2301609218120575 +451 29928 TIMM22 0.22979068756103516 +452 5184 PEPD 0.22971631586551666 +453 84342 COG8 0.22956106066703796 +454 219285 SAMD9L 0.22955438494682312 +455 249 ALPL 0.22934645414352417 +456 100506658 OCLN 0.22931496798992157 +457 51251 NT5C3A 0.22879543900489807 +458 5795 PTPRJ 0.2285536527633667 +459 6155 RPL27 0.2282433658838272 +460 87 ACTN1 0.22821219265460968 +461 790955 UQCC3 0.22813303768634796 +462 5052 PRDX1 0.2280404269695282 +463 11232 POLG2 0.22777076065540314 +464 134218 DNAJC21 0.2275039255619049 +465 9948 WDR1 0.22742518782615662 +466 2328 FMO3 0.22683127224445343 +467 81570 CLPB 0.22682420909404755 +468 1080 CFTR 0.22680449485778809 +469 7293 TNFRSF4 0.22679701447486877 +470 119559 SFXN4 0.22648198902606964 +471 2628 GATM 0.2264530062675476 +472 10043 TOM1 0.2261980026960373 +473 3690 ITGB3 0.22611011564731598 +474 3141 HLCS 0.2258991301059723 +475 4548 MTR 0.22581611573696136 +476 8309 ACOX2 0.22580759227275848 +477 10892 MALT1 0.2256018966436386 +478 105371045 PERCC1 0.2253825068473816 +479 7010 TEK 0.22533881664276123 +480 2160 F11 0.22519166767597198 +481 84522 JAGN1 0.22508341073989868 +482 7040 TGFB1 0.2248072624206543 +483 3949 LDLR 0.22461427748203278 +484 162 AP1B1 0.22442004084587097 +485 27249 MMADHC 0.22415506839752197 +486 3990 LIPC 0.22400031983852386 +487 5476 CTSA 0.22379030287265778 +488 205327 C2orf69 0.2236929088830948 +489 9076 CLDN1 0.22350318729877472 +490 10312 TCIRG1 0.22347335517406464 +491 11181 TREH 0.2233532965183258 +492 55109 AGGF1 0.22278104722499847 +493 10095 ARPC1B 0.22272531688213348 +494 7388 UQCRH 0.22250080108642578 +495 128 ADH5 0.22243191301822662 +496 79705 LRRK1 0.22242474555969238 +497 4069 LYZ 0.22222889959812164 +498 718 C3 0.22204862534999847 +499 51601 LIPT1 0.22163383662700653 +500 1588 CYP19A1 0.22142687439918518 +501 91869 RFT1 0.22121532261371613 +502 255738 PCSK9 0.221202090382576 +503 1534 CYB561 0.22119808197021484 +504 64240 ABCG5 0.22054214775562286 +505 286 ANK1 0.2205241620540619 +506 284086 NEK8 0.22028739750385284 +507 11224 RPL35 0.22027260065078735 +508 5580 PRKCD 0.21955092251300812 +509 6929 TCF3 0.21936719119548798 +510 64421 DCLRE1C 0.21934737265110016 +511 590 BCHE 0.2190823256969452 +512 29960 MRM2 0.219077929854393 +513 9377 COX5A 0.2188176065683365 +514 84947 SERAC1 0.21858352422714233 +515 23479 ISCU 0.21844646334648132 +516 8452 CUL3 0.2183026671409607 +517 1380 CR2 0.2178497463464737 +518 4353 MPO 0.21762429177761078 +519 57570 TRMT5 0.21753071248531342 +520 112812 FDX2 0.21739064157009125 +521 6569 SLC34A1 0.2172727882862091 +522 7535 ZAP70 0.21711465716362 +523 100 ADA 0.21711157262325287 +524 987 LRBA 0.2170654684305191 +525 7172 TPMT 0.2169448435306549 +526 3716 JAK1 0.21670253574848175 +527 26873 OPLAH 0.21646401286125183 +528 55065 SLC52A1 0.21642431616783142 +529 162417 NAGS 0.21629828214645386 +530 26503 SLC17A5 0.21606115996837616 +531 4598 MVK 0.21587741374969482 +532 5966 REL 0.21583868563175201 +533 55651 NHP2 0.21561096608638763 +534 1071 CETP 0.2153378427028656 +535 151648 SGO1 0.21522705256938934 +536 79651 RHBDF2 0.21516922116279602 +537 1373 CPS1 0.21488791704177856 +538 8526 DGKE 0.21479415893554688 +539 25 ABL1 0.21476896107196808 +540 3592 IL12A 0.21468579769134521 +541 847 CAT 0.21450042724609375 +542 3045 HBD 0.2142438292503357 +543 915 CD3D 0.21406340599060059 +544 5091 PC 0.2139040231704712 +545 3291 HSD11B2 0.21380767226219177 +546 56244 BTNL2 0.21380268037319183 +547 587 BCAT2 0.21374265849590302 +548 3815 KIT 0.21347695589065552 +549 2548 GAA 0.21300780773162842 +550 875 CBS 0.21300263702869415 +551 55505 NOP10 0.2129978984594345 +552 4173 MCM4 0.2129364013671875 +553 57104 PNPLA2 0.21292951703071594 +554 55005 RMND1 0.21280910074710846 +555 63901 FAM111A 0.21275682747364044 +556 84987 COX14 0.21265238523483276 +557 959 CD40LG 0.21255499124526978 +558 26525 IL36RN 0.212449312210083 +559 1991 ELANE 0.21235083043575287 +560 6772 STAT1 0.21216417849063873 +561 5994 RFXAP 0.21185046434402466 +562 5993 RFX5 0.21185046434402466 +563 8625 RFXANK 0.21185046434402466 +564 113235 SLC46A1 0.2117922604084015 +565 79827 CLMP 0.2117438167333603 +566 5788 PTPRC 0.21144048869609833 +567 79650 USB1 0.21110670268535614 +568 29071 C1GALT1C1 0.21104282140731812 +569 6141 RPL18 0.21051472425460815 +570 56052 ALG1 0.21045905351638794 +571 2954 GSTZ1 0.21045809984207153 +572 284119 CAVIN1 0.21023350954055786 +573 60528 ELAC2 0.20976588129997253 +574 3998 LMAN1 0.20970095694065094 +575 51241 COX16 0.2096738964319229 +576 51428 DDX41 0.20952734351158142 +577 6499 SKIC2 0.20909197628498077 +578 51750 RTEL1 0.20907612144947052 +579 84876 ORAI1 0.20905624330043793 +580 3459 IFNGR1 0.20888249576091766 +581 56922 MCCC1 0.2088458240032196 +582 51021 MRPS16 0.20881997048854828 +583 4285 MIPEP 0.20873674750328064 +584 5073 PARN 0.20855920016765594 +585 6232 RPS27 0.20850899815559387 +586 166929 SGMS2 0.2084473818540573 +587 8671 SLC4A4 0.20830877125263214 +588 1357 CPA1 0.20821592211723328 +589 6210 RPS15A 0.20805950462818146 +590 846 CASR 0.20787933468818665 +591 1962 EHHADH 0.20782163739204407 +592 94 ACVRL1 0.20768426358699799 +593 3560 IL2RB 0.20763669908046722 +594 5498 PPOX 0.20755688846111298 +595 169792 GLIS3 0.20720334351062775 +596 330 BIRC3 0.20700368285179138 +597 171023 ASXL1 0.2069735825061798 +598 4261 CIITA 0.20693056285381317 +599 7456 WIPF1 0.20690810680389404 +600 1186 CLCN7 0.2068822830915451 +601 10878 CFHR3 0.20682141184806824 +602 3078 CFHR1 0.20682141184806824 +603 63899 NSUN3 0.20667076110839844 +604 2271 FH 0.20666959881782532 +605 771 CA12 0.2064700871706009 +606 51649 MRPS23 0.2064238339662552 +607 7298 TYMS 0.20625513792037964 +608 57410 SCYL1 0.20587049424648285 +609 340061 STING1 0.20581772923469543 +610 1371 CPOX 0.20570802688598633 +611 7012 TERC 0.20555131137371063 +612 10559 SLC35A1 0.2050475925207138 +613 7174 TPP2 0.2049814611673355 +614 84300 UQCC2 0.2047257125377655 +615 6125 RPL5 0.20456868410110474 +616 3569 IL6 0.2043171525001526 +617 6229 RPS24 0.20429269969463348 +618 6307 MSMO1 0.20428566634655 +619 7171 TPM4 0.20425598323345184 +620 6135 RPL11 0.2042076736688614 +621 63916 ELMO2 0.203687384724617 +622 8802 SUCLG1 0.2036697268486023 +623 5078 PAX4 0.20359857380390167 +624 841 CASP8 0.20345477759838104 +625 8651 SOCS1 0.20340672135353088 +626 54205 CYCS 0.202969491481781 +627 56984 PSMG2 0.2027403861284256 +628 2492 FSHR 0.20264479517936707 +629 83737 ITCH 0.20227012038230896 +630 6204 RPS10 0.20214392244815826 +631 8818 DPM2 0.2020045518875122 +632 10128 LRPPRC 0.20199763774871826 +633 4791 NFKB2 0.20194771885871887 +634 23417 MLYCD 0.20190326869487762 +635 6218 RPS17 0.20189151167869568 +636 6138 RPL15 0.2018892616033554 +637 23590 PDSS1 0.20183655619621277 +638 90268 OTULIN 0.20178020000457764 +639 6554 SLC10A1 0.20163699984550476 +640 89874 SLC25A21 0.2016179859638214 +641 383 ARG1 0.20158055424690247 +642 970 CD70 0.20141327381134033 +643 27031 NPHP3 0.20122206211090088 +644 1340 COX6B1 0.20106738805770874 +645 388753 COA6 0.20077994465827942 +646 5442 POLRMT 0.2005820870399475 +647 1468 SLC25A10 0.20007023215293884 +648 2022 ENG 0.2000255584716797 +649 8883 NAE1 0.19995833933353424 +650 6165 RPL35A 0.1998998075723648 +651 54567 DLL4 0.1998915672302246 +652 79415 CYBC1 0.19986918568611145 +653 6309 SC5D 0.1996467262506485 +654 6201 RPS7 0.19954346120357513 +655 10125 RASGRP1 0.19937491416931152 +656 57531 HACE1 0.19922299683094025 +657 80169 CTC1 0.19901424646377563 +658 22796 COG2 0.1989874541759491 +659 567 B2M 0.1987866759300232 +660 5468 PPARG 0.19867360591888428 +661 2000 ELF4 0.19840988516807556 +662 595 CCND1 0.1983075886964798 +663 11231 SEC63 0.1981603354215622 +664 203286 ANKS6 0.19804497063159943 +665 2050 EPHB4 0.19771279394626617 +666 90 ACVR1 0.19767867028713226 +667 4160 MC4R 0.19752414524555206 +668 80216 ALPK1 0.19751997292041779 +669 6925 TCF4 0.19747313857078552 +670 551 AVP 0.1974402219057083 +671 6809 STX3 0.19715675711631775 +672 201595 STT3B 0.19710731506347656 +673 8915 BCL10 0.19709622859954834 +674 6337 SCNN1A 0.1970692276954651 +675 1758 DMP1 0.19695191085338593 +676 31 ACACA 0.1969483643770218 +677 6786 STIM1 0.1967850923538208 +678 23137 SMC5 0.1967390775680542 +679 6338 SCNN1B 0.1964215785264969 +680 26277 TINF2 0.19639591872692108 +681 1828 DSG1 0.19632837176322937 +682 4851 NOTCH1 0.19618605077266693 +683 6340 SCNN1G 0.19615355134010315 +684 64805 P2RY12 0.19587083160877228 +685 4577 MT-TV 0.1958247870206833 +686 55750 AGK 0.19575124979019165 +687 2693 GHSR 0.19568465650081635 +688 1438 CSF2RA 0.19547085464000702 +689 10560 SLC19A2 0.1951395720243454 +690 6235 RPS29 0.19506292045116425 +691 5557 PRIM1 0.19502508640289307 +692 6557 SLC12A1 0.19475537538528442 +693 11280 SCN11A 0.19427956640720367 +694 51660 MPC1 0.1942017674446106 +695 1559 CYP2C9 0.1940927654504776 +696 26275 HIBCH 0.19401974976062775 +697 3426 CFI 0.19390879571437836 +698 60386 SLC25A19 0.19363854825496674 +699 4715 NDUFB9 0.19346094131469727 +700 7841 MOGS 0.1932590901851654 +701 9095 TBX19 0.19309397041797638 +702 1909 EDNRA 0.19305825233459473 +703 3242 HPD 0.19301818311214447 +704 2048 EPHB2 0.19267039000988007 +705 5328 PLAU 0.1925322413444519 +706 6927 HNF1A 0.1924963891506195 +707 60468 BACH2 0.19249117374420166 +708 63931 MRPS14 0.19241070747375488 +709 79728 PALB2 0.19233906269073486 +710 5195 PEX14 0.19227227568626404 +711 9419 CRIPT 0.1922110617160797 +712 2313 FLI1 0.19211183488368988 +713 1355 COX15 0.19206124544143677 +714 7482 WNT2B 0.19200752675533295 +715 6231 RPS26 0.19195517897605896 +716 6154 RPL26 0.19182533025741577 +717 7922 SLC39A7 0.19180968403816223 +718 1376 CPT2 0.19169287383556366 +719 1497 CTNS 0.1914789080619812 +720 10535 RNASEH2A 0.19129538536071777 +721 7067 THRA 0.19127683341503143 +722 3248 HPGD 0.19108809530735016 +723 5696 PSMB8 0.19105380773544312 +724 5345 SERPINF2 0.1910451352596283 +725 5337 PLD1 0.19082845747470856 +726 4613 MYCN 0.19081321358680725 +727 2266 FGG 0.1906125247478485 +728 2244 FGB 0.1906125247478485 +729 6336 SCN10A 0.1905628889799118 +730 84699 CREB3L3 0.19046109914779663 +731 2806 GOT2 0.19044987857341766 +732 3758 KCNJ1 0.19034229218959808 +733 10195 ALG3 0.1901112198829651 +734 90624 LYRM7 0.1900956928730011 +735 114803 MYSM1 0.18982693552970886 +736 8792 TNFRSF11A 0.1898036152124405 +737 196527 ANO6 0.1897052377462387 +738 3939 LDHA 0.18968802690505981 +739 5054 SERPINE1 0.1895633488893509 +740 3075 CFH 0.18949104845523834 +741 7486 WRN 0.189458429813385 +742 79991 STN1 0.18923965096473694 +743 9368 NHERF1 0.18914256989955902 +744 3735 KARS1 0.1891181468963623 +745 81555 YIPF5 0.1889411211013794 +746 5122 PCSK1 0.18889808654785156 +747 2108 ETFA 0.18889620900154114 +748 2110 ETFDH 0.18889620900154114 +749 2109 ETFB 0.18889620900154114 +750 142680 SLC34A3 0.1888836771249771 +751 84433 CARD11 0.1886983960866928 +752 10564 ARFGEF2 0.1886197179555893 +753 91647 ATPAF2 0.18853768706321716 +754 8813 DPM1 0.1885344386100769 +755 3458 IFNG 0.18830542266368866 +756 55811 ADCY10 0.18818581104278564 +757 115286 SLC25A26 0.18793140351772308 +758 672 BRCA1 0.18781763315200806 +759 35 ACADS 0.1877852827310562 +760 256297 PTF1A 0.18759597837924957 +761 7454 WAS 0.18745316565036774 +762 57017 COQ9 0.1873670518398285 +763 5443 POMC 0.18734388053417206 +764 64135 IFIH1 0.18712575733661652 +765 1729 DIAPH1 0.18693383038043976 +766 29927 SEC61A1 0.18683214485645294 +767 3273 HRG 0.18672417104244232 +768 7941 PLA2G7 0.18670937418937683 +769 8803 SUCLA2 0.18664270639419556 +770 1576 CYP3A4 0.1865748167037964 +771 1174 AP1S1 0.1865033060312271 +772 2710 GK 0.1864495575428009 +773 221496 LEMD2 0.18639247119426727 +774 4846 NOS3 0.1862582266330719 +775 4716 NDUFB10 0.18620248138904572 +776 10667 FARS2 0.18607686460018158 +777 4724 NDUFS4 0.18591716885566711 +778 4615 MYD88 0.185909703373909 +779 6137 RPL13 0.18567754328250885 +780 5373 PMM2 0.1856326460838318 +781 4723 NDUFV1 0.18546202778816223 +782 261734 NPHP4 0.18543533980846405 +783 10102 TSFM 0.18542534112930298 +784 10599 SLCO1B1 0.1853007972240448 +785 28234 SLCO1B3 0.1853007972240448 +786 604 BCL6 0.18528591096401215 +787 596 BCL2 0.18528591096401215 +788 3630 INS 0.18527793884277344 +789 6016 RIT1 0.18525618314743042 +790 4233 MET 0.1851620376110077 +791 843 CASP10 0.1849837750196457 +792 5700 PSMC1 0.18492066860198975 +793 5321 PLA2G4A 0.18488359451293945 +794 10134 BCAP31 0.18485189974308014 +795 5627 PROS1 0.18474850058555603 +796 55388 MCM10 0.18471163511276245 +797 80222 TARS2 0.18467265367507935 +798 26146 TRAF3IP1 0.18448732793331146 +799 23474 ETHE1 0.18441416323184967 +800 916 CD3E 0.1841415911912918 +801 4792 NFKBIA 0.1839296817779541 +802 27130 INVS 0.18387740850448608 +803 65125 WNK1 0.18386834859848022 +804 27247 NFU1 0.1838032454252243 +805 498 ATP5F1A 0.1837506890296936 +806 51206 GP6 0.18365538120269775 +807 9213 XPR1 0.18352457880973816 +808 6234 RPS28 0.1831693947315216 +809 7157 TP53 0.18305489420890808 +810 10551 AGR2 0.1829492300748825 +811 210 ALAD 0.18283668160438538 +812 3070 HELLS 0.1826266348361969 +813 6555 SLC10A2 0.1825656294822693 +814 284184 NDUFAF8 0.1825214922428131 +815 1591 CYP24A1 0.18239909410476685 +816 79840 NHEJ1 0.18236644566059113 +817 65082 VPS33A 0.1823432594537735 +818 29958 DMGDH 0.1821945607662201 +819 4722 NDUFS3 0.18216106295585632 +820 919 CD247 0.18214616179466248 +821 640 BLK 0.18212857842445374 +822 3593 IL12B 0.18212246894836426 +823 4967 OGDH 0.18193501234054565 +824 3207 HOXA11 0.1817968487739563 +825 64376 IKZF5 0.18155133724212646 +826 208 AKT2 0.18153300881385803 +827 55027 HEATR3 0.1813831776380539 +828 3604 TNFRSF9 0.18136382102966309 +829 50485 SMARCAL1 0.1813538819551468 +830 359 AQP2 0.18133236467838287 +831 1056 CEL 0.1812174767255783 +832 79759 ZNF668 0.18110333383083344 +833 5972 REN 0.1810220330953598 +834 1727 CYB5R3 0.18092675507068634 +835 708 C1QBP 0.1808982938528061 +836 2629 GBA1 0.1808774620294571 +837 3718 JAK3 0.18059302866458893 +838 2353 FOS 0.1805613785982132 +839 6915 TBXA2R 0.18015150725841522 +840 23187 PHLDB1 0.18014656007289886 +841 356 FASLG 0.1799212396144867 +842 79722 ANKRD55 0.1798500269651413 +843 5771 PTPN2 0.1798500269651413 +844 342618 SLFN14 0.17977645993232727 +845 23175 LPIN1 0.17973920702934265 +846 2672 GFI1 0.17963306605815887 +847 1053 CEBPE 0.17960812151432037 +848 56945 MRPS22 0.17934568226337433 +849 6223 RPS19 0.17924591898918152 +850 25974 MMACHC 0.17916016280651093 +851 6182 MRPL12 0.17905329167842865 +852 3418 IDH2 0.1789485663175583 +853 79644 SRD5A3 0.1788279116153717 +854 29078 NDUFAF4 0.17874720692634583 +855 8462 KLF11 0.17865583300590515 +856 368 ABCC6 0.1785520315170288 +857 3029 HAGH 0.17854321002960205 +858 126328 NDUFA11 0.17852722108364105 +859 1789 DNMT3B 0.1785169094800949 +860 8540 AGPS 0.178490549325943 +861 11281 POU6F2 0.17825375497341156 +862 5156 PDGFRA 0.17819656431674957 +863 58472 SQOR 0.1781165450811386 +864 4089 SMAD4 0.17808455228805542 +865 3662 IRF4 0.17779850959777832 +866 9149 DYRK1B 0.17773433029651642 +867 9247 GCM2 0.1776544600725174 +868 6566 SLC16A1 0.17755603790283203 +869 84705 GTPBP3 0.17753882706165314 +870 2099 ESR1 0.17739754915237427 +871 81689 ISCA1 0.17732174694538116 +872 51362 CDC40 0.17730268836021423 +873 4760 NEUROD1 0.17724688351154327 +874 3559 IL2RA 0.17710411548614502 +875 6288 SAA1 0.17709122598171234 +876 506 ATP5F1B 0.17698410153388977 +877 56160 NSMCE3 0.1763102412223816 +878 84033 OBSCN 0.1761733740568161 +879 103 ADAR 0.17609505355358124 +880 593 BCKDHA 0.17600546777248383 +881 5828 PEX2 0.1759943813085556 +882 7289 TULP3 0.17592257261276245 +883 4689 NCF4 0.17589013278484344 +884 4709 NDUFB3 0.17586743831634521 +885 346171 ZFP57 0.17584837973117828 +886 91147 TMEM67 0.17565062642097473 +887 10555 AGPAT2 0.17554518580436707 +888 374879 ZNF699 0.1755112111568451 +889 4688 NCF2 0.17549730837345123 +890 3295 HSD17B4 0.17532961070537567 +891 374291 NDUFS7 0.17529040575027466 +892 4704 NDUFA9 0.17527946829795837 +893 63924 CIDEC 0.17522205412387848 +894 8974 P4HA2 0.17506837844848633 +895 56262 LRRC8A 0.17485275864601135 +896 9371 KIF3B 0.17483524978160858 +897 4702 NDUFA8 0.17463593184947968 +898 4205 MEF2A 0.17457836866378784 +899 8546 AP3B1 0.17455708980560303 +900 917 CD3G 0.17454007267951965 +901 55719 SLF2 0.17450305819511414 +902 3651 PDX1 0.1744653284549713 +903 60676 PAPPA2 0.17444972693920135 +904 116228 COX20 0.1743934154510498 +905 4697 NDUFA4 0.1741238683462143 +906 26235 FBXL4 0.17383359372615814 +907 3561 IL2RG 0.17374345660209656 +908 90411 MCFD2 0.17372441291809082 +909 1535 CYBA 0.17367494106292725 +910 11019 LIAS 0.17367367446422577 +911 54704 PDP1 0.17362967133522034 +912 10531 PITRM1 0.1735684871673584 +913 55863 TMEM126B 0.17352484166622162 +914 1621 DBH 0.1734256148338318 +915 55768 NGLY1 0.1732870489358902 +916 6655 SOS2 0.1731685847043991 +917 549 AUH 0.1729000210762024 +918 51816 ADA2 0.17284275591373444 +919 2876 GPX1 0.17279422283172607 +920 79087 ALG12 0.1727631390094757 +921 26060 APPL1 0.17271003127098083 +922 6133 RPL9 0.17269009351730347 +923 6132 RPL8 0.17269009351730347 +924 6160 RPL31 0.17269009351730347 +925 64116 SLC39A8 0.17245274782180786 +926 22861 NLRP1 0.17244106531143188 +927 1327 COX4I1 0.17241711914539337 +928 7498 XDH 0.17239761352539062 +929 2530 FUT8 0.17225950956344604 +930 2213 FCGR2B 0.1722259819507599 +931 1773 DNASE1 0.1722259819507599 +932 2034 EPAS1 0.1721247434616089 +933 51371 POMP 0.17201143503189087 +934 375 ARF1 0.1720028966665268 +935 2639 GCDH 0.17195263504981995 +936 9512 PMPCB 0.17192111909389496 +937 2155 F7 0.17189253866672516 +938 353 APRT 0.17178386449813843 +939 217 ALDH2 0.1716783046722412 +940 6559 SLC12A3 0.17161665856838226 +941 55315 SLC29A3 0.17143619060516357 +942 55503 TRPV6 0.17138171195983887 +943 3827 KNG1 0.1713770031929016 +944 65992 DDRGK1 0.17133893072605133 +945 5167 ENPP1 0.17125658690929413 +946 9630 GNA14 0.17114803194999695 +947 25939 SAMHD1 0.1710844188928604 +948 57514 ARHGAP31 0.17103227972984314 +949 10842 PPP1R17 0.1709640473127365 +950 336 APOA2 0.1709640473127365 +951 2053 EPHX2 0.1709640473127365 +952 118429 ANTXR2 0.17089027166366577 +953 4726 NDUFS6 0.17082129418849945 +954 8720 MBTPS1 0.17080800235271454 +955 50484 RRM2B 0.17056746780872345 +956 171019 ADAMTS19 0.17054049670696259 +957 5424 POLD1 0.17047981917858124 +958 4607 MYBPC3 0.17036092281341553 +959 1439 CSF2RB 0.1702776998281479 +960 6303 SAT1 0.17021802067756653 +961 178 AGL 0.1702023446559906 +962 55630 SLC39A4 0.170118048787117 +963 51134 CEP83 0.17009800672531128 +964 4868 NPHS1 0.1698540598154068 +965 493856 CISD2 0.169844850897789 +966 2645 GCK 0.1697429120540619 +967 1029 CDKN2A 0.1697353571653366 +968 55107 ANO1 0.1696869432926178 +969 54440 SASH3 0.16966940462589264 +970 675 BRCA2 0.16964632272720337 +971 54968 TMEM70 0.1696440875530243 +972 3516 RBPJ 0.16950002312660217 +973 3313 HSPA9 0.16946354508399963 +974 4719 NDUFS1 0.1693417727947235 +975 3106 HLA-B 0.16911916434764862 +976 91039 DPP9 0.16911537945270538 +977 22845 DOLK 0.1690504103899002 +978 90993 CREB3L1 0.16899797320365906 +979 26249 KLHL3 0.1689702570438385 +980 10483 SEC23B 0.16888651251792908 +981 6448 SGSH 0.16864636540412903 +982 285203 EOGT 0.16856586933135986 +983 22800 RRAS2 0.16852252185344696 +984 203 AK1 0.16839897632598877 +985 114548 NLRP3 0.16836966574192047 +986 4566 MT-TK 0.1683523952960968 +987 4705 NDUFA10 0.16833831369876862 +988 6774 STAT3 0.16825982928276062 +989 27232 GNMT 0.167989581823349 +990 5618 PRLR 0.167901411652565 +991 133686 NADK2 0.16787005960941315 +992 59067 IL21 0.16770875453948975 +993 291 SLC25A4 0.16756339371204376 +994 3551 IKBKB 0.16755184531211853 +995 713 C1QB 0.16754187643527985 +996 1548 CYP2A6 0.16748812794685364 +997 23322 RPGRIP1L 0.16740597784519196 +998 4582 MUC1 0.16738781332969666 +999 4537 MT-ND3 0.16737593710422516 +1000 9382 COG1 0.16731400787830353 +1001 58494 JAM2 0.16729438304901123 +1002 3654 IRAK1 0.16711077094078064 +1003 6696 SPP1 0.16711077094078064 +1004 3543 IGLL1 0.16705253720283508 +1005 1351 COX8A 0.1670120805501938 +1006 387787 LIPT2 0.16687612235546112 +1007 2982 GUCY1A1 0.1668245643377304 +1008 4700 NDUFA6 0.16662868857383728 +1009 2642 GCGR 0.1665823757648468 +1010 4720 NDUFS2 0.16650284826755524 +1011 23095 KIF1B 0.16645057499408722 +1012 10216 PRG4 0.16640128195285797 +1013 6654 SOS1 0.1662505567073822 +1014 51079 NDUFA13 0.1661318987607956 +1015 22806 IKZF3 0.16609719395637512 +1016 4536 MT-ND2 0.1660313457250595 +1017 6688 SPI1 0.16601817309856415 +1018 22808 MRAS 0.16591769456863403 +1019 3119 HLA-DQB1 0.16590315103530884 +1020 4982 TNFRSF11B 0.16573302447795868 +1021 4576 MT-TT 0.16562119126319885 +1022 91662 NLRP12 0.16553397476673126 +1023 4210 MEFV 0.16549505293369293 +1024 84153 RNASEH2C 0.16544897854328156 +1025 4729 NDUFV2 0.16533920168876648 +1026 2100 ESR2 0.16531002521514893 +1027 6519 SLC3A1 0.16522856056690216 +1028 90121 TSR2 0.16520905494689941 +1029 3930 LBR 0.16505543887615204 +1030 79803 HPS6 0.16487836837768555 +1031 64170 CARD9 0.16479872167110443 +1032 3181 HNRNPA2B1 0.16477565467357635 +1033 23149 FCHO1 0.16473837196826935 +1034 23019 CNOT1 0.1646001636981964 +1035 83879 CDCA7 0.16442492604255676 +1036 1854 DUT 0.1643078774213791 +1037 440138 ALG11 0.16427192091941833 +1038 5194 PEX13 0.16425380110740662 +1039 10845 CLPX 0.16423067450523376 +1040 51300 TIMMDC1 0.1641940176486969 +1041 695 BTK 0.16413012146949768 +1042 1736 DKC1 0.1640302538871765 +1043 128989 TANGO2 0.16397731006145477 +1044 2157 F8 0.16390512883663177 +1045 9719 ADAMTSL2 0.16390009224414825 +1046 174 AFP 0.16382388770580292 +1047 973 CD79A 0.16379278898239136 +1048 4860 PNP 0.16376055777072906 +1049 79621 RNASEH2B 0.16347317397594452 +1050 4578 MT-TW 0.1634705513715744 +1051 5193 PEX12 0.16331100463867188 +1052 4907 NT5E 0.1632365733385086 +1053 3081 HGD 0.16315996646881104 +1054 6731 SRP72 0.16309165954589844 +1055 64127 NOD2 0.163071408867836 +1056 5277 PIGA 0.16304466128349304 +1057 4056 LTC4S 0.16262231767177582 +1058 6794 STK11 0.1625681072473526 +1059 6097 RORC 0.1623818427324295 +1060 2064 ERBB2 0.16231827437877655 +1061 7128 TNFAIP3 0.16215606033802032 +1062 27068 PPA2 0.16214989125728607 +1063 7840 ALMS1 0.16213375329971313 +1064 51733 UPB1 0.16207355260849 +1065 135228 CD109 0.16203787922859192 +1066 3673 ITGA2 0.16203787922859192 +1067 9409 PEX16 0.16198468208312988 +1068 29760 BLNK 0.1619112491607666 +1069 23193 GANAB 0.16165590286254883 +1070 6778 STAT6 0.16164687275886536 +1071 4665 NAB2 0.16164687275886536 +1072 7137 TNNI3 0.1615736186504364 +1073 10525 HYOU1 0.16156862676143646 +1074 93 ACVR2B 0.16150161623954773 +1075 134353 LSM11 0.16141767799854279 +1076 26258 BLOC1S6 0.16139467060565948 +1077 54583 EGLN1 0.16134630143642426 +1078 3490 IGFBP7 0.1613336205482483 +1079 974 CD79B 0.16125187277793884 +1080 3773 KCNJ16 0.16122642159461975 +1081 2984 GUCY2C 0.16108042001724243 +1082 779 CACNA1S 0.16102078557014465 +1083 5346 PLIN1 0.16097372770309448 +1084 1585 CYP11B2 0.16042129695415497 +1085 53335 BCL11A 0.16030961275100708 +1086 80224 NUBPL 0.16028304398059845 +1087 738 VPS51 0.1602616012096405 +1088 6775 STAT4 0.16025732457637787 +1089 2215 FCGR3B 0.1602437049150467 +1090 2222 FDFT1 0.16018469631671906 +1091 472 ATM 0.1600867211818695 +1092 8572 PDLIM4 0.16002802550792694 +1093 799 CALCR 0.16002802550792694 +1094 6945 MLX 0.15992774069309235 +1095 25915 NDUFAF3 0.15992410480976105 +1096 6524 SLC5A2 0.15987400710582733 +1097 6928 HNF1B 0.1598597913980484 +1098 51117 COQ4 0.15985602140426636 +1099 7252 TSHB 0.15941159427165985 +1100 9526 MPDU1 0.15934106707572937 +1101 57592 ZNF687 0.15934044122695923 +1102 3071 NCKAP1L 0.15931694209575653 +1103 137682 NDUFAF6 0.1592189371585846 +1104 50628 GEMIN4 0.1591949462890625 +1105 5311 PKD2 0.15918216109275818 +1106 650 BMP2 0.1591651886701584 +1107 64682 ANAPC1 0.1591651439666748 +1108 89781 HPS4 0.1590675264596939 +1109 10466 COG5 0.15898501873016357 +1110 7139 TNNT2 0.15889431536197662 +1111 10459 MAD2L2 0.15880446135997772 +1112 4538 MT-ND4 0.15860773622989655 +1113 7225 TRPC6 0.15850681066513062 +1114 5978 REST 0.15842176973819733 +1115 7421 VDR 0.15834438800811768 +1116 3479 IGF1 0.15833893418312073 +1117 7518 XRCC4 0.15829497575759888 +1118 2936 GSR 0.15825386345386505 +1119 3991 LIPE 0.15814544260501862 +1120 2657 GDF1 0.15812821686267853 +1121 10157 AASS 0.1581273227930069 +1122 9997 SCO2 0.15811893343925476 +1123 2159 F10 0.15809625387191772 +1124 9581 PREPL 0.1580733209848404 +1125 55670 PEX26 0.15803579986095428 +1126 50640 PNPLA8 0.1577901691198349 +1127 79133 NDUFAF5 0.15771052241325378 +1128 57505 AARS2 0.1576738804578781 +1129 23165 NUP205 0.15750081837177277 +1130 4728 NDUFS8 0.1573914736509323 +1131 613 BCR 0.15713301301002502 +1132 4512 MT-CO1 0.15712647140026093 +1133 5251 PHEX 0.15705083310604095 +1134 3767 KCNJ11 0.15691454708576202 +1135 54892 NCAPG2 0.15689057111740112 +1136 4574 MT-TS1 0.15665102005004883 +1137 3507 IGHM 0.1566094607114792 +1138 270 AMPD1 0.15656812489032745 +1139 2717 GLA 0.15650631487369537 +1140 1583 CYP11A1 0.15630966424942017 +1141 79577 CDC73 0.15625585615634918 +1142 10651 MTX2 0.15611322224140167 +1143 4091 SMAD6 0.15606068074703217 +1144 5019 OXCT1 0.1560370773077011 +1145 5087 PBX1 0.15599237382411957 +1146 57061 HYMAI 0.15595154464244843 +1147 8050 PDHX 0.1558610051870346 +1148 51738 GHRL 0.15584996342658997 +1149 9672 SDC3 0.15584996342658997 +1150 155 ADRB3 0.15584996342658997 +1151 7352 UCP3 0.15584996342658997 +1152 181 AGRP 0.15584996342658997 +1153 8431 NR0B2 0.15584996342658997 +1154 9607 CARTPT 0.15584996342658997 +1155 8443 GNPAT 0.15568234026432037 +1156 7827 NPHS2 0.1556640863418579 +1157 132158 GLYCTK 0.15552134811878204 +1158 3684 ITGAM 0.1554894596338272 +1159 10318 TNIP1 0.1554894596338272 +1160 2113 ETS1 0.1554894596338272 +1161 3500 IGHG1 0.1554894596338272 +1162 7332 UBE2L3 0.1554894596338272 +1163 54899 PXK 0.1554894596338272 +1164 55024 BANK1 0.1554894596338272 +1165 221895 JAZF1 0.1554894596338272 +1166 84572 GNPTG 0.155369833111763 +1167 7466 WFS1 0.15523377060890198 +1168 5076 PAX2 0.155025452375412 +1169 55343 SLC35C1 0.15498080849647522 +1170 29089 UBE2T 0.1549319624900818 +1171 4511 MT-TC 0.15492981672286987 +1172 27235 COQ2 0.1548587828874588 +1173 57462 MYORG 0.15482714772224426 +1174 1910 EDNRB 0.15476064383983612 +1175 8492 PRSS12 0.15471872687339783 +1176 27429 HTRA2 0.15447263419628143 +1177 462 SERPINC1 0.15443575382232666 +1178 1798 DPAGT1 0.1544075310230255 +1179 2668 GDNF 0.1542656123638153 +1180 10020 GNE 0.15426549315452576 +1181 91942 NDUFAF2 0.15422888100147247 +1182 657 BMPR1A 0.15421037375926971 +1183 6748 SSR4 0.15418709814548492 +1184 4878 NPPA 0.15408365428447723 +1185 9863 MAGI2 0.15383800864219666 +1186 57217 TTC7A 0.15377339720726013 +1187 27329 ANGPTL3 0.1536027044057846 +1188 79717 PPCS 0.15353406965732574 +1189 5660 PSAP 0.15339966118335724 +1190 5745 PTH1R 0.15324680507183075 +1191 83990 BRIP1 0.15323466062545776 +1192 4541 MT-ND6 0.15319283306598663 +1193 56259 CTNNBL1 0.1531652808189392 +1194 9841 ZBTB24 0.15287376940250397 +1195 9378 NRXN1 0.15283438563346863 +1196 4514 MT-CO3 0.15273045003414154 +1197 659 BMPR2 0.1526964157819748 +1198 5925 RB1 0.15262024104595184 +1199 55901 THSD1 0.1526022106409073 +1200 4952 OCRL 0.15247862040996552 +1201 2677 GGCX 0.15243969857692719 +1202 5824 PEX19 0.15239264070987701 +1203 55186 SLC25A36 0.15236464142799377 +1204 6575 SLC20A2 0.1523599922657013 +1205 6833 ABCC8 0.15209037065505981 +1206 4175 MCM6 0.15199699997901917 +1207 7132 TNFRSF1A 0.15172569453716278 +1208 2627 GATA6 0.15153734385967255 +1209 55572 FOXRED1 0.1514911949634552 +1210 4565 MT-TI 0.1514488011598587 +1211 2158 F9 0.15141071379184723 +1212 5162 PDHB 0.15140597522258759 +1213 79868 ALG13 0.15138152241706848 +1214 9688 NUP93 0.1512729674577713 +1215 4938 OAS1 0.15121446549892426 +1216 79718 TBL1XR1 0.15113192796707153 +1217 4780 NFE2L2 0.1510627418756485 +1218 1889 ECE1 0.15102875232696533 +1219 546 ATRX 0.150907963514328 +1220 84343 HPS3 0.15086880326271057 +1221 55159 RFWD3 0.15084125101566315 +1222 10054 UBA2 0.15081749856472015 +1223 57176 VARS2 0.1507888287305832 +1224 721 C4B 0.15075057744979858 +1225 5971 RELB 0.15074926614761353 +1226 54344 DPM3 0.1506359875202179 +1227 6237 RRAS 0.1504589021205902 +1228 5922 RASA2 0.1504589021205902 +1229 4540 MT-ND5 0.15041904151439667 +1230 2013 EMP2 0.15034356713294983 +1231 5800 PTPRO 0.15034253895282745 +1232 405753 DUOXA2 0.15027832984924316 +1233 3975 LHX1 0.15018261969089508 +1234 3753 KCNE1 0.15008310973644257 +1235 79798 ARMC5 0.1500726044178009 +1236 6821 SUOX 0.1500624567270279 +1237 1536 CYBB 0.1500621736049652 +1238 26191 PTPN22 0.1499907672405243 +1239 202018 TAPT1 0.14979447424411774 +1240 64711 HS3ST6 0.14977985620498657 +1241 4513 MT-CO2 0.14977777004241943 +1242 1339 COX6A2 0.14977367222309113 +1243 389434 IYD 0.14960668981075287 +1244 355 FAS 0.149418443441391 +1245 55249 YY1AP1 0.14919115602970123 +1246 4669 NAGLU 0.1490877866744995 +1247 5406 PNLIP 0.14857542514801025 +1248 10058 ABCB6 0.14855079352855682 +1249 58528 RRAGD 0.1484983116388321 +1250 79809 TTC21B 0.14844182133674622 +1251 2178 FANCE 0.1484384983778 +1252 79587 CARS2 0.1483030617237091 +1253 2175 FANCA 0.1482734978199005 +1254 79879 CCDC134 0.14822086691856384 +1255 8799 PEX11B 0.14814524352550507 +1256 2176 FANCC 0.14800578355789185 +1257 4247 MGAT2 0.14788119494915009 +1258 1136 CHRNA3 0.1478661149740219 +1259 5352 PLOD2 0.14780303835868835 +1260 23230 VPS13A 0.14764359593391418 +1261 3074 HEXB 0.14749988913536072 +1262 9276 COPB2 0.14746540784835815 +1263 23586 RIGI 0.1474567949771881 +1264 8942 KYNU 0.1474193036556244 +1265 9939 RBM8A 0.14739662408828735 +1266 4087 SMAD2 0.14734582602977753 +1267 22 ABCB7 0.14732590317726135 +1268 284439 SLC25A42 0.147220179438591 +1269 26585 GREM1 0.14709773659706116 +1270 7092 TLL1 0.14706510305404663 +1271 23279 NUP160 0.14700163900852203 +1272 54443 ANLN 0.14700108766555786 +1273 7428 VHL 0.14696907997131348 +1274 9790 BMS1 0.14693959057331085 +1275 4758 NEU1 0.1469382494688034 +1276 6528 SLC5A5 0.14693771302700043 +1277 7276 TTR 0.14691679179668427 +1278 4567 MT-TL1 0.1468697339296341 +1279 11277 TREX1 0.14683052897453308 +1280 22868 FASTKD2 0.14672572910785675 +1281 4524 MTHFR 0.146715447306633 +1282 4312 MMP1 0.14669901132583618 +1283 23064 SETX 0.14668431878089905 +1284 1188 CLCNKB 0.14666981995105743 +1285 7809 BSND 0.1466587334871292 +1286 720 C4A 0.1465749442577362 +1287 4638 MYLK 0.146487295627594 +1288 6728 SRP19 0.14626263082027435 +1289 1956 EGFR 0.14625109732151031 +1290 65266 WNK4 0.14614062011241913 +1291 857 CAV1 0.146017387509346 +1292 55967 NDUFA12 0.14598876237869263 +1293 3981 LIG4 0.14597544074058533 +1294 57003 CCDC47 0.14593052864074707 +1295 411 ARSB 0.1458757072687149 +1296 4337 MOCS1 0.145796537399292 +1297 51 ACOX1 0.14575757086277008 +1298 1892 ECHS1 0.1456635296344757 +1299 200734 SPRED2 0.14549148082733154 +1300 80152 CENPT 0.14540249109268188 +1301 3918 LAMC2 0.14537377655506134 +1302 4558 MT-TF 0.14534924924373627 +1303 84464 SLX4 0.14531904458999634 +1304 57038 RARS2 0.14531093835830688 +1305 100128908 CIROP 0.14521190524101257 +1306 4572 MT-TQ 0.1450793296098709 +1307 5428 POLG 0.14499826729297638 +1308 2688 GH1 0.1449148952960968 +1309 23387 SIK3 0.14482904970645905 +1310 51181 DCXR 0.1446124017238617 +1311 8985 PLOD3 0.14458522200584412 +1312 8815 BANF1 0.14451485872268677 +1313 79932 KIAA0319L 0.1443091481924057 +1314 79048 SECISBP2 0.14417411386966705 +1315 51284 TLR7 0.1441473811864853 +1316 4535 MT-ND1 0.1441461741924286 +1317 90416 CCDC32 0.14405564963817596 +1318 7173 TPO 0.14393840730190277 +1319 9440 MED17 0.14392952620983124 +1320 8021 NUP214 0.14392374455928802 +1321 8216 LZTR1 0.1439102590084076 +1322 3658 IREB2 0.14382217824459076 +1323 137814 NKX2-6 0.1438221037387848 +1324 51594 NBAS 0.1438174843788147 +1325 23500 DAAM2 0.14380671083927155 +1326 51196 PLCE1 0.14380541443824768 +1327 2188 FANCF 0.14365798234939575 +1328 6224 RPS20 0.14364024996757507 +1329 5604 MAP2K1 0.1436164528131485 +1330 5283 PIGH 0.14360086619853973 +1331 388962 BOLA3 0.1435685008764267 +1332 9365 KL 0.14354421198368073 +1333 5965 RECQL 0.14353419840335846 +1334 1353 COX11 0.14335443079471588 +1335 9453 GGPS1 0.1432744562625885 +1336 4853 NOTCH2 0.14319179952144623 +1337 2517 FUCA1 0.14317086338996887 +1338 79731 NARS2 0.14299289882183075 +1339 3028 HSD17B10 0.14296077191829681 +1340 286410 ATP11C 0.14295773208141327 +1341 10587 TXNRD2 0.14293040335178375 +1342 2746 GLUD1 0.14292925596237183 +1343 4323 MMP14 0.14285095036029816 +1344 11234 HPS5 0.1428184062242508 +1345 5133 PDCD1 0.14275403320789337 +1346 4088 SMAD3 0.14236219227313995 +1347 84984 CEP19 0.1423570215702057 +1348 3053 SERPIND1 0.1423315405845642 +1349 2590 GALNT2 0.14220941066741943 +1350 9837 GINS1 0.14216651022434235 +1351 83932 SPRTN 0.14215725660324097 +1352 1776 DNASE1L3 0.14211690425872803 +1353 7068 THRB 0.1420975774526596 +1354 2177 FANCD2 0.1420244723558426 +1355 776 CACNA1D 0.1419810801744461 +1356 283120 H19 0.14197038114070892 +1357 55764 IFT122 0.1418847143650055 +1358 4072 EPCAM 0.14186035096645355 +1359 966 CD59 0.14174315333366394 +1360 4643 MYO1E 0.14161823689937592 +1361 100303755 PET117 0.14142045378684998 +1362 129563 DIS3L2 0.14136864244937897 +1363 4902 NRTN 0.14127278327941895 +1364 10512 SEMA3C 0.14127278327941895 +1365 223117 SEMA3D 0.14127278327941895 +1366 65993 MRPS34 0.14127175509929657 +1367 4519 MT-CYB 0.14113537967205048 +1368 865 CBFB 0.14111430943012238 +1369 2671 GFER 0.14110535383224487 +1370 160418 TMTC3 0.14098110795021057 +1371 3914 LAMB3 0.1408652365207672 +1372 51135 IRAK4 0.14080435037612915 +1373 1317 SLC31A1 0.1407555341720581 +1374 54885 TBC1D8B 0.14074541628360748 +1375 1718 DHCR24 0.14070247113704681 +1376 55215 FANCI 0.1406734436750412 +1377 1593 CYP27A1 0.14057177305221558 +1378 5449 POU1F1 0.1405625343322754 +1379 3123 HLA-DRB1 0.1405041664838791 +1380 7253 TSHR 0.14046600461006165 +1381 4153 MBL2 0.14042863249778748 +1382 50506 DUOX2 0.1404143124818802 +1383 8504 PEX3 0.14038318395614624 +1384 87178 PNPT1 0.14035600423812866 +1385 55739 NAXD 0.1403491497039795 +1386 60684 TRAPPC11 0.14006006717681885 +1387 85365 ALG2 0.13994239270687103 +1388 51422 PRKAG2 0.13991625607013702 +1389 2189 FANCG 0.13989882171154022 +1390 1175 AP2S1 0.13988254964351654 +1391 6678 SPARC 0.1398809403181076 +1392 7351 UCP2 0.13985741138458252 +1393 23432 GPR161 0.1398254930973053 +1394 3417 IDH1 0.13973742723464966 +1395 3572 IL6ST 0.13973112404346466 +1396 51317 PHF21A 0.13969668745994568 +1397 649 BMP1 0.13967089354991913 +1398 9692 PRORP 0.1395941972732544 +1399 57158 JPH2 0.13958723843097687 +1400 72 ACTG2 0.13956066966056824 +1401 7038 TG 0.13951680064201355 +1402 23530 NNT 0.13931794464588165 +1403 859 CAV3 0.139250248670578 +1404 5915 RARB 0.139186292886734 +1405 5340 PLG 0.13916106522083282 +1406 5781 PTPN11 0.13908614218235016 +1407 6770 STAR 0.13857480883598328 +1408 513 ATP5F1D 0.13854564726352692 +1409 55120 FANCL 0.13845287263393402 +1410 57551 TAOK1 0.1384402960538864 +1411 57572 DOCK6 0.1382976919412613 +1412 64220 STRA6 0.13828782737255096 +1413 60681 FKBP10 0.13826005160808563 +1414 727897 MUC5B 0.13823866844177246 +1415 729238 SFTPA2 0.13823866844177246 +1416 10235 RASGRP2 0.13819393515586853 +1417 3145 HMBS 0.13819058239459991 +1418 1644 DDC 0.1381302773952484 +1419 4191 MDH2 0.1379968374967575 +1420 6907 TBL1X 0.1379900723695755 +1421 166379 BBS12 0.13786691427230835 +1422 6023 RMRP 0.13784654438495636 +1423 79934 COQ8B 0.13781386613845825 +1424 396 ARHGDIA 0.13773731887340546 +1425 2812 GP1BB 0.13765636086463928 +1426 4591 TRIM37 0.13762424886226654 +1427 7015 TERT 0.13761121034622192 +1428 7317 UBA1 0.1376071274280548 +1429 81027 TUBB1 0.1375967115163803 +1430 4882 NPR2 0.13745592534542084 +1431 4571 MT-TP 0.13744781911373138 +1432 10730 YME1L1 0.13730169832706451 +1433 5921 RASA1 0.13714073598384857 +1434 56992 KIF15 0.13703599572181702 +1435 7133 TNFRSF1B 0.13697242736816406 +1436 940 CD28 0.13697242736816406 +1437 57697 FANCM 0.13695192337036133 +1438 5293 PIK3CD 0.13687430322170258 +1439 56246 MRAP 0.13676725327968597 +1440 10229 COQ7 0.1367589384317398 +1441 64858 DCLRE1B 0.13671350479125977 +1442 7852 CXCR4 0.1366315633058548 +1443 6901 TAFAZZIN 0.13649322092533112 +1444 2072 ERCC4 0.13645800948143005 +1445 4842 NOS1 0.13599392771720886 +1446 4040 LRP6 0.13588492572307587 +1447 4564 MT-TH 0.13585563004016876 +1448 9529 BAG5 0.13584329187870026 +1449 8675 STX16 0.1357729285955429 +1450 54822 TRPM7 0.13575048744678497 +1451 5279 PIGC 0.13554637134075165 +1452 182 JAG1 0.13550201058387756 +1453 1829 DSG2 0.13546082377433777 +1454 3098 HK1 0.1351638287305832 +1455 3909 LAMA3 0.13502764701843262 +1456 5351 PLOD1 0.13489499688148499 +1457 4329 ALDH6A1 0.1348775178194046 +1458 109 ADCY3 0.1347937285900116 +1459 22897 CEP164 0.13460247218608856 +1460 1384 CRAT 0.1345926821231842 +1461 51608 GET4 0.13457517325878143 +1462 10686 CLDN16 0.13448479771614075 +1463 1493 CTLA4 0.13446718454360962 +1464 710 SERPING1 0.13440726697444916 +1465 5495 PPM1B 0.13436946272850037 +1466 79823 CAMKMT 0.13436946272850037 +1467 646 BNC1 0.13427230715751648 +1468 4575 MT-TS2 0.13419485092163086 +1469 442721 LMOD2 0.13419264554977417 +1470 148022 TICAM1 0.1341683566570282 +1471 56652 TWNK 0.1341237872838974 +1472 64423 INF2 0.13412362337112427 +1473 23592 LEMD3 0.13398964703083038 +1474 686 BTD 0.13383904099464417 +1475 51728 POLR3K 0.13383102416992188 +1476 538 ATP7A 0.13370539247989655 +1477 9103 FCGR2C 0.13367599248886108 +1478 79753 SNIP1 0.13366304337978363 +1479 5611 DNAJC3 0.13355791568756104 +1480 79023 NUP37 0.13342633843421936 +1481 9101 USP8 0.13318021595478058 +1482 140628 GATA5 0.13315197825431824 +1483 5192 PEX10 0.13313470780849457 +1484 3937 LCP2 0.13305801153182983 +1485 514 ATP5F1E 0.1330273151397705 +1486 1841 DTYMK 0.13299185037612915 +1487 5889 RAD51C 0.1329268366098404 +1488 51124 IER3IP1 0.132796511054039 +1489 26160 IFT172 0.13276147842407227 +1490 374393 FAM111B 0.13272342085838318 +1491 8425 LTBP4 0.13267111778259277 +1492 5592 PRKG1 0.13244056701660156 +1493 3586 IL10 0.13241936266422272 +1494 5566 PRKACA 0.13217905163764954 +1495 55596 ZCCHC8 0.13217486441135406 +1496 2678 GGT1 0.13212861120700836 +1497 27086 FOXP1 0.1319551169872284 +1498 10265 IRX5 0.1319340169429779 +1499 55210 ATAD3A 0.13186869025230408 +1500 27089 UQCRQ 0.13157272338867188 +1501 3579 CXCR2 0.1313193440437317 +1502 7516 XRCC2 0.13123485445976257 +1503 6389 SDHA 0.13092128932476044 +1504 2720 GLB1 0.13083945214748383 +1505 2335 FN1 0.13083572685718536 +1506 25828 TXN2 0.13077889382839203 +1507 3643 INSR 0.13067474961280823 +1508 1287 COL4A5 0.1305137574672699 +1509 4718 NDUFC2 0.13039949536323547 +1510 56623 INPP5E 0.13034173846244812 +1511 55593 OTUD5 0.1302575320005417 +1512 4694 NDUFA1 0.13011768460273743 +1513 4867 NPHP1 0.1299823820590973 +1514 2990 GUSB 0.12992483377456665 +1515 51626 DYNC2LI1 0.12991821765899658 +1516 4158 MC2R 0.12984348833560944 +1517 10155 TRIM28 0.1297757476568222 +1518 89884 LHX4 0.12977133691310883 +1519 23118 TAB2 0.129759281873703 +1520 1161 ERCC8 0.12967462837696075 +1521 55780 ERMARD 0.12967126071453094 +1522 4125 MAN2B1 0.12966173887252808 +1523 51057 WDPCP 0.12963557243347168 +1524 79158 GNPTAB 0.1295911967754364 +1525 64788 LMF1 0.12956687808036804 +1526 1181 CLCN2 0.12955242395401 +1527 1272 CNTN1 0.12955094873905182 +1528 5888 RAD51 0.12951838970184326 +1529 1027 CDKN1B 0.12949854135513306 +1530 3784 KCNQ1 0.12944479286670685 +1531 7471 WNT1 0.12934879958629608 +1532 92482 BBIP1 0.12932589650154114 +1533 51341 ZBTB7A 0.12929612398147583 +1534 6117 RPA1 0.1292186975479126 +1535 8838 CCN6 0.12915723025798798 +1536 9742 IFT140 0.12912268936634064 +1537 1187 CLCNKA 0.1291050761938095 +1538 84061 MAGT1 0.12901261448860168 +1539 80308 FLAD1 0.1288563758134842 +1540 10243 GPHN 0.12882870435714722 +1541 9210 BMP15 0.1286587119102478 +1542 1294 COL7A1 0.12865778803825378 +1543 57545 CC2D2A 0.1286071538925171 +1544 8573 CASK 0.128571018576622 +1545 4041 LRP5 0.1285238265991211 +1546 6440 SFTPC 0.12846440076828003 +1547 10352 WARS2 0.12840574979782104 +1548 1482 NKX2-5 0.12831656634807587 +1549 9479 MAPK8IP1 0.12827983498573303 +1550 56729 RETN 0.12827983498573303 +1551 4544 MTNR1B 0.12827983498573303 +1552 169026 SLC30A8 0.12827983498573303 +1553 5506 PPP1R3A 0.12827983498573303 +1554 10644 IGF2BP2 0.12827983498573303 +1555 8660 IRS2 0.12827983498573303 +1556 3159 HMGA1 0.12827983498573303 +1557 6934 TCF7L2 0.12827983498573303 +1558 2820 GPD2 0.12827983498573303 +1559 5770 PTPN1 0.12827983498573303 +1560 3667 IRS1 0.12827983498573303 +1561 7042 TGFB2 0.12812693417072296 +1562 5774 PTPN3 0.12811027467250824 +1563 129880 BBS5 0.12803836166858673 +1564 10568 SLC34A2 0.128014475107193 +1565 6647 SOD1 0.12794293463230133 +1566 5573 PRKAR1A 0.12793324887752533 +1567 55212 BBS7 0.12789179384708405 +1568 84833 ATP5MK 0.12788160145282745 +1569 51501 HIKESHI 0.12787491083145142 +1570 84062 DTNBP1 0.12780769169330597 +1571 282996 RBM20 0.12777428328990936 +1572 23533 PIK3R5 0.12755140662193298 +1573 9508 ADAMTS3 0.12754657864570618 +1574 151188 ARL6IP6 0.12753160297870636 +1575 27183 VPS4A 0.1275101751089096 +1576 57798 GATAD1 0.1274959146976471 +1577 79738 BBS10 0.12749093770980835 +1578 7201 TRHR 0.12740544974803925 +1579 55997 CFC1 0.12738221883773804 +1580 8076 MFAP5 0.12737098336219788 +1581 29893 PSMC3IP 0.12735091149806976 +1582 1589 CYP21A2 0.12728142738342285 +1583 64175 P3H1 0.12728139758110046 +1584 8036 SHOC2 0.12720780074596405 +1585 2778 GNAS 0.1270451545715332 +1586 8567 MADD 0.12693209946155548 +1587 7305 TYROBP 0.1268623173236847 +1588 51692 CPSF3 0.12684005498886108 +1589 10345 TRDN 0.1268216371536255 +1590 5238 PGM3 0.12672537565231323 +1591 6331 SCN5A 0.1267203837633133 +1592 51651 PTRH2 0.12671799957752228 +1593 7043 TGFB3 0.1266752928495407 +1594 286204 CRB2 0.12664484977722168 +1595 55112 DYNC2I1 0.12662184238433838 +1596 404672 GTF2H5 0.12659035623073578 +1597 3675 ITGA3 0.1265086531639099 +1598 9509 ADAMTS2 0.12643606960773468 +1599 7292 TNFSF4 0.12642283737659454 +1600 3703 STT3A 0.12626181542873383 +1601 56997 COQ8A 0.12622839212417603 +1602 147372 CCBE1 0.12615157663822174 +1603 7849 PAX8 0.12613223493099213 +1604 54463 RETREG1 0.12611623108386993 +1605 10806 SDCCAG8 0.12611176073551178 +1606 2027 ENO3 0.12607280910015106 +1607 6261 RYR1 0.12598861753940582 +1608 57674 RNF213 0.1257447600364685 +1609 29775 CARD10 0.12572051584720612 +1610 39 ACAT2 0.12568937242031097 +1611 3178 HNRNPA1 0.12558762729167938 +1612 92609 TIMM50 0.1254836767911911 +1613 4143 MAT1A 0.12545913457870483 +1614 7098 TLR3 0.12538011372089386 +1615 7547 ZIC3 0.12532849609851837 +1616 55325 UFSP2 0.12526455521583557 +1617 57539 WDR35 0.12525135278701782 +1618 3911 LAMA5 0.12518058717250824 +1619 1908 EDN3 0.12515416741371155 +1620 55180 LINS1 0.12510953843593597 +1621 10660 LBX1 0.12508420646190643 +1622 11200 CHEK2 0.12504912912845612 +1623 23514 SPIDR 0.1250363290309906 +1624 585 BBS4 0.1250162273645401 +1625 3329 HSPD1 0.1249823272228241 +1626 4629 MYH11 0.12489499896764755 +1627 3290 HSD11B1 0.12486167252063751 +1628 26227 PHGDH 0.12467707693576813 +1629 6444 SGCD 0.12458818405866623 +1630 175 AGA 0.12456563860177994 +1631 64132 XYLT2 0.12451492249965668 +1632 11133 KPTN 0.12445475906133652 +1633 5190 PEX6 0.12443607300519943 +1634 59 ACTA2 0.12442690134048462 +1635 4905 NSF 0.12441942095756531 +1636 5310 PKD1 0.12439554929733276 +1637 3762 KCNJ5 0.12435668706893921 +1638 6804 STX1A 0.12431302666664124 +1639 5626 PROP1 0.12429775297641754 +1640 497661 C18orf32 0.1241527572274208 +1641 10436 EMG1 0.1240939274430275 +1642 3845 KRAS 0.12406712025403976 +1643 25913 POT1 0.12406368553638458 +1644 54888 NSUN2 0.12403060495853424 +1645 5894 RAF1 0.12398742884397507 +1646 7156 TOP3A 0.12398558855056763 +1647 23327 NEDD4L 0.12397903949022293 +1648 27241 BBS9 0.12396463751792908 +1649 535 ATP6V0A1 0.12371034175157547 +1650 4634 MYL3 0.12365046888589859 +1651 25886 POC1A 0.12363696843385696 +1652 5350 PLN 0.1236080676317215 +1653 1290 COL5A2 0.12353426218032837 +1654 8560 DEGS1 0.12352793663740158 +1655 81622 UNC93B1 0.12351087480783463 +1656 2588 GALNS 0.12350134551525116 +1657 84340 GFM2 0.12338557839393616 +1658 9138 ARHGEF1 0.12334095686674118 +1659 1733 DIO1 0.12332963943481445 +1660 23397 NCAPH 0.12332937866449356 +1661 6327 SCN2B 0.12323354929685593 +1662 1278 COL1A2 0.12316147983074188 +1663 1277 COL1A1 0.12306686490774155 +1664 118856 MMP21 0.12305200099945068 +1665 165918 RNF168 0.12303102761507034 +1666 166378 AFG2A 0.12297698855400085 +1667 10159 ATP6AP2 0.12294463068246841 +1668 9620 CELSR1 0.12293775379657745 +1669 55775 TDP1 0.12292733043432236 +1670 7046 TGFBR1 0.1229083389043808 +1671 79796 ALG9 0.1228533685207367 +1672 4507 MTAP 0.12281253188848495 +1673 7716 VEZF1 0.12275028228759766 +1674 8048 CSRP3 0.12271147221326828 +1675 5624 PROC 0.12270721793174744 +1676 4683 NBN 0.12266441434621811 +1677 8195 MKKS 0.12258393317461014 +1678 375056 MIA3 0.1225210651755333 +1679 26137 ZBTB20 0.12249600142240524 +1680 57724 EPG5 0.12247417867183685 +1681 845 CASQ2 0.12243437021970749 +1682 1230 CCR1 0.1223239079117775 +1683 101928376 IL12A-AS1 0.1223239079117775 +1684 51752 ERAP1 0.1223239079117775 +1685 7099 TLR4 0.1223239079117775 +1686 337867 UBAC2 0.1223239079117775 +1687 149233 IL23R 0.1223239079117775 +1688 8302 KLRC4 0.1223239079117775 +1689 4338 MOCS2 0.12227579951286316 +1690 6868 ADAM17 0.12221942096948624 +1691 149775 GNAS-AS1 0.12216400355100632 +1692 8557 TCAP 0.12215559929609299 +1693 56606 SLC2A9 0.12214428931474686 +1694 1674 DES 0.12212987244129181 +1695 54538 ROBO4 0.12212640047073364 +1696 9722 NOS1AP 0.12209264189004898 +1697 91252 SLC39A13 0.12202852219343185 +1698 653361 NCF1 0.12184734642505646 +1699 4508 MT-ATP6 0.12184705585241318 +1700 64374 SIL1 0.12172923237085342 +1701 8882 ZPR1 0.12160788476467133 +1702 1285 COL4A3 0.12156625092029572 +1703 2019 EN1 0.12156547605991364 +1704 55151 TMEM38B 0.12153977900743484 +1705 6452 SH3BP2 0.12149211019277573 +1706 7048 TGFBR2 0.12147736549377441 +1707 3910 LAMA4 0.12140782177448273 +1708 7125 TNNC2 0.1213952824473381 +1709 3570 IL6R 0.12138725817203522 +1710 25970 SH2B1 0.12137199938297272 +1711 7187 TRAF3 0.12129002064466476 +1712 79902 NUP85 0.12126950174570084 +1713 8733 GPAA1 0.12118567526340485 +1714 8022 LHX3 0.12117061018943787 +1715 200205 IBA57 0.12113060057163239 +1716 889 KRIT1 0.12112277001142502 +1717 79633 FAT4 0.12111382931470871 +1718 1312 COMT 0.12106816470623016 +1719 5160 PDHA1 0.12105032801628113 +1720 7086 TKT 0.12103278189897537 +1721 51645 PPIL1 0.12102174013853073 +1722 1760 DMPK 0.12101127952337265 +1723 6123 RPL3L 0.12099408358335495 +1724 387733 IFITM5 0.12088123708963394 +1725 79875 THSD4 0.12087013572454453 +1726 63976 PRDM16 0.12084297835826874 +1727 4633 MYL2 0.12078123539686203 +1728 54 ACP5 0.12077230215072632 +1729 197258 FCSK 0.12076035887002945 +1730 125150 ZSWIM7 0.12064975500106812 +1731 2801 GOLGA2 0.12064604461193085 +1732 10059 DNM1L 0.12060728669166565 +1733 57057 TBX20 0.12048905342817307 +1734 55033 FKBP14 0.12045764923095703 +1735 5295 PIK3R1 0.12042127549648285 +1736 51604 PIGT 0.12039292603731155 +1737 5034 P4HB 0.12025589495897293 +1738 55823 VPS11 0.12025364488363266 +1739 54840 APTX 0.12022272497415543 +1740 5830 PEX5 0.12018951773643494 +1741 8642 DCHS1 0.12014643102884293 +1742 27010 TPK1 0.12013282626867294 +1743 10370 CITED2 0.1201183944940567 +1744 8518 ELP1 0.12010457366704941 +1745 4015 LOX 0.12002697587013245 +1746 7490 WT1 0.11996317654848099 +1747 3689 ITGB2 0.11993388831615448 +1748 2074 ERCC6 0.11991116404533386 +1749 2690 GHR 0.11988753080368042 +1750 55275 VPS53 0.11977215856313705 +1751 11020 IFT27 0.11976542323827744 +1752 8091 HMGA2 0.11973459273576736 +1753 554 AVPR2 0.1196463331580162 +1754 10664 CTCF 0.11956581473350525 +1755 6391 SDHC 0.11940901726484299 +1756 4635 MYL4 0.11928381770849228 +1757 55800 SCN3B 0.11926747858524323 +1758 9488 PIGB 0.11923863738775253 +1759 2908 NR3C1 0.11918821930885315 +1760 2318 FLNC 0.11910414695739746 +1761 6392 SDHD 0.11905265599489212 +1762 54941 RNF125 0.11901160329580307 +1763 9992 KCNE2 0.11893370002508163 +1764 84842 HPDL 0.11893180757761002 +1765 3709 ITPR2 0.11882810294628143 +1766 8402 SLC25A11 0.11876452714204788 +1767 3508 IGHMBP2 0.11874963343143463 +1768 11005 SPINK5 0.11863194406032562 +1769 5325 PLAGL1 0.11861687153577805 +1770 55037 PTCD3 0.11858690530061722 +1771 271 AMPD2 0.11858247965574265 +1772 84665 MYPN 0.11844148486852646 +1773 8496 PPFIBP1 0.11840212345123291 +1774 254394 MCM9 0.11835679411888123 +1775 326 AIRE 0.11831372231245041 +1776 1586 CYP17A1 0.11829724162817001 +1777 4893 NRAS 0.11812738329172134 +1778 3978 LIG1 0.11798390746116638 +1779 10008 KCNE3 0.11792843043804169 +1780 200942 KLHDC8B 0.11790641397237778 +1781 745 MYRF 0.11789824813604355 +1782 54795 TRPM4 0.11760974675416946 +1783 9319 TRIP13 0.11757116764783859 +1784 7134 TNNC1 0.11742938309907913 +1785 8364 H4C3 0.11738099157810211 +1786 26580 BSCL2 0.11722725629806519 +1787 8869 ST3GAL5 0.11722663789987564 +1788 5324 PLAG1 0.11720168590545654 +1789 51726 DNAJB11 0.11720076203346252 +1790 6330 SCN4B 0.11716779321432114 +1791 9244 CRLF1 0.11715426295995712 +1792 10463 SLC30A9 0.11712039262056351 +1793 3514 IGKC 0.11710440367460251 +1794 4914 NTRK1 0.11708930879831314 +1795 83475 DOHH 0.11695074290037155 +1796 2294 FOXF1 0.11684898287057877 +1797 132320 SCLT1 0.116759292781353 +1798 23607 CD2AP 0.1166343241930008 +1799 55636 CHD7 0.11655166745185852 +1800 1756 DMD 0.11653507500886917 +1801 5157 PDGFRL 0.11649717390537262 +1802 1737 DLAT 0.1164916530251503 +1803 10026 PIGK 0.11647559702396393 +1804 9918 NCAPD2 0.11642548441886902 +1805 2735 GLI1 0.11637939512729645 +1806 9968 MED12 0.11626170575618744 +1807 51111 KMT5B 0.1162240281701088 +1808 81794 ADAMTS10 0.11618810147047043 +1809 3710 ITPR3 0.11610421538352966 +1810 1743 DLST 0.11610132455825806 +1811 5917 RARS1 0.11609084904193878 +1812 579 NKX3-2 0.11608516424894333 +1813 1020 CDK5 0.11606356501579285 +1814 8879 SGPL1 0.11601681262254715 +1815 2783 GNB2 0.11600790917873383 +1816 6513 SLC2A1 0.11572752892971039 +1817 10367 MICU1 0.11568661034107208 +1818 7414 VCL 0.1155112087726593 +1819 54756 IL17RD 0.11548434942960739 +1820 8789 FBP2 0.11544482409954071 +1821 7007 TECTA 0.11542173475027084 +1822 11014 KDELR2 0.11541958153247833 +1823 1717 DHCR7 0.1153797060251236 +1824 26154 ABCA12 0.11537596583366394 +1825 26130 GAPVD1 0.11537474393844604 +1826 83478 ARHGAP24 0.11537474393844604 +1827 51479 ANKFY1 0.11537474393844604 +1828 2132 EXT2 0.11536204069852829 +1829 3554 IL1R1 0.11525478214025497 +1830 84100 ARL6 0.11525461822748184 +1831 808 CALM3 0.1152438074350357 +1832 55644 OSGEP 0.11512940376996994 +1833 1528 CYB5A 0.115128293633461 +1834 5630 PRPH 0.11512088775634766 +1835 3097 HIVEP2 0.11511225253343582 +1836 5286 PIK3C2A 0.11505434662103653 +1837 54585 LZTFL1 0.11499520391225815 +1838 51567 TDP2 0.11489976942539215 +1839 6720 SREBF1 0.11487464606761932 +1840 50964 SOST 0.11476463079452515 +1841 783 CACNB2 0.11473822593688965 +1842 5318 PKP2 0.11472687870264053 +1843 9631 NUP155 0.11471566557884216 +1844 153201 SLC36A2 0.11469929665327072 +1845 84823 LMNB2 0.11465339362621307 +1846 4438 MSH4 0.11462114751338959 +1847 4131 MAP1B 0.11457869410514832 +1848 8820 HESX1 0.11456306278705597 +1849 5430 POLR2A 0.1145409643650055 +1850 3034 HAL 0.11452896147966385 +1851 23152 CIC 0.11452395468950272 +1852 958 CD40 0.11451965570449829 +1853 55329 MNS1 0.11439435929059982 +1854 23171 GPD1L 0.11429397761821747 +1855 3187 HNRNPH1 0.11429253220558167 +1856 7030 TFE3 0.11425182968378067 +1857 4149 MAX 0.11408241093158722 +1858 55654 TMEM127 0.11408241093158722 +1859 11107 PRDM5 0.11407216638326645 +1860 11212 PLPBP 0.11403726786375046 +1861 3741 KCNA5 0.11397849768400192 +1862 2324 FLT4 0.11395405977964401 +1863 11340 EXOSC8 0.11386583745479584 +1864 1471 CST3 0.11385700851678848 +1865 287 ANK2 0.11385692656040192 +1866 123263 MTFMT 0.11384822428226471 +1867 22900 CARD8 0.11378651112318039 +1868 701 BUB1B 0.11378644406795502 +1869 3350 HTR1A 0.11370139569044113 +1870 1824 DSC2 0.11363529413938522 +1871 1785 DNM2 0.11361817270517349 +1872 54453 RIN2 0.11340655386447906 +1873 57449 PLEKHG5 0.1134001687169075 +1874 29880 ALG5 0.1133672297000885 +1875 10142 AKAP9 0.1133515015244484 +1876 91624 NEXN 0.11331664025783539 +1877 1131 CHRM3 0.11327740550041199 +1878 6424 SFRP4 0.11326267570257187 +1879 7403 KDM6A 0.11323073506355286 +1880 3860 KRT13 0.11305176466703415 +1881 10526 IPO8 0.11304011195898056 +1882 4624 MYH6 0.112953320145607 +1883 641 BLM 0.11292410641908646 +1884 3954 LETM1 0.11285199224948883 +1885 3757 KCNH2 0.11282733082771301 +1886 8542 APOL1 0.11272959411144257 +1887 8288 EPX 0.11270473152399063 +1888 55603 TENT5A 0.11262791603803635 +1889 9657 IQCB1 0.11260367184877396 +1890 5837 PYGM 0.11260347813367844 +1891 582 BBS1 0.11247793585062027 +1892 54880 BCOR 0.11247734725475311 +1893 6399 TRAPPC2 0.11247152835130692 +1894 57122 NUP107 0.11240274459123611 +1895 25973 PARS2 0.11238040030002594 +1896 6508 SLC4A3 0.11232732236385345 +1897 6899 TBX1 0.11224868148565292 +1898 100134444 KCNJ18 0.11224810034036636 +1899 51010 EXOSC3 0.11211856454610825 +1900 51086 TNNI3K 0.11208365112543106 +1901 272 AMPD3 0.11207391321659088 +1902 6239 RREB1 0.1120113804936409 +1903 421 ARVCF 0.1120113804936409 +1904 7353 UFD1 0.1120113804936409 +1905 221037 JMJD1C 0.1120113804936409 +1906 7290 HIRA 0.1120113804936409 +1907 9632 SEC24C 0.1120113804936409 +1908 27161 AGO2 0.11197599023580551 +1909 2767 GNA11 0.11184395104646683 +1910 1289 COL5A1 0.11182379722595215 +1911 84634 KISS1R 0.11179884523153305 +1912 2893 GRIA4 0.11178763955831528 +1913 51744 CD244 0.1117599681019783 +1914 4795 NFKBIL1 0.1117599681019783 +1915 6583 SLC22A4 0.1117599681019783 +1916 49855 SCAPER 0.11174794286489487 +1917 22954 TRIM32 0.1117044985294342 +1918 10 NAT2 0.11161572486162186 +1919 1066 CES1 0.11160155385732651 +1920 56704 JPH1 0.11160071939229965 +1921 157657 CFAP418 0.11154162883758545 +1922 372 ARCN1 0.11153329163789749 +1923 3636 INPPL1 0.11144864559173584 +1924 96459 FNIP1 0.11143200844526291 +1925 90523 MLIP 0.1113818809390068 +1926 3777 KCNK3 0.11135978251695633 +1927 22873 DZIP1 0.1113424226641655 +1928 8943 AP3D1 0.11133857816457748 +1929 80114 BICC1 0.11130664497613907 +1930 57538 ALPK3 0.11123239248991013 +1931 1031 CDKN2C 0.11122426390647888 +1932 1026 CDKN1A 0.11122426390647888 +1933 5395 PMS2 0.1111467033624649 +1934 6640 SNTA1 0.11112511157989502 +1935 7168 TPM1 0.11108429729938507 +1936 7355 SLC35A2 0.11104537546634674 +1937 1757 SARDH 0.11102782934904099 +1938 70 ACTC1 0.11102420091629028 +1939 8550 MAPKAPK5 0.11098809540271759 +1940 10225 CD96 0.11094138771295547 +1941 21 ABCA3 0.11088716983795166 +1942 11285 B4GALT7 0.11088354885578156 +1943 1804 DPP6 0.11086582392454147 +1944 4883 NPR3 0.11077720671892166 +1945 4668 NAGA 0.11071709543466568 +1946 4436 MSH2 0.11057054251432419 +1947 83605 CCM2 0.11056263744831085 +1948 57379 AICDA 0.11053653061389923 +1949 318 NUDT2 0.1104607805609703 +1950 3691 ITGB4 0.11043337732553482 +1951 112939 NACC1 0.11041921377182007 +1952 5189 PEX1 0.11034739762544632 +1953 501 ALDH7A1 0.11030838638544083 +1954 8854 ALDH1A2 0.11028827726840973 +1955 1028 CDKN1C 0.11026716232299805 +1956 54949 SDHAF2 0.1102285385131836 +1957 9469 CHST3 0.11012294888496399 +1958 6390 SDHB 0.11003033071756363 +1959 55252 ASXL2 0.10981302708387375 +1960 81704 DOCK8 0.10976245254278183 +1961 56172 ANKH 0.10971617698669434 +1962 7200 TRH 0.10971561074256897 +1963 2201 FBN2 0.10962303727865219 +1964 84905 ZNF341 0.10961495339870453 +1965 54675 CRLS1 0.10960683971643448 +1966 100033413 SNORD116-1 0.10957470536231995 +1967 23742 NPAP1 0.10957470536231995 +1968 10108 - 0.10957470536231995 +1969 791114 PWRN1 0.10957470536231995 +1970 145624 PWAR1 0.10957470536231995 +1971 338433 SNORD115-1 0.10957470536231995 +1972 3653 IPW 0.10957470536231995 +1973 2187 FANCB 0.10950363427400589 +1974 4126 MANBA 0.10949012637138367 +1975 3021 H3-3B 0.10946036875247955 +1976 89891 DYNC2I2 0.10942820459604263 +1977 5191 PEX7 0.10941454768180847 +1978 10203 CALCRL 0.10935262590646744 +1979 11136 SLC7A9 0.10934597253799438 +1980 5784 PTPN14 0.10930053144693375 +1981 54345 SOX18 0.10927397757768631 +1982 219972 MPEG1 0.10926633328199387 +1983 1513 CTSK 0.10925263166427612 +1984 439 GET3 0.10912328958511353 +1985 83700 JAM3 0.10909722745418549 +1986 57560 IFT80 0.10905570536851883 +1987 11342 RNF13 0.10905100405216217 +1988 5741 PTH 0.10903662443161011 +1989 55294 FBXW7 0.10893940180540085 +1990 79140 CCDC28B 0.10890807956457138 +1991 26175 LYSET 0.10890369117259979 +1992 203190 LGI3 0.10888653993606567 +1993 2961 GTF2E2 0.10886704921722412 +1994 5831 PYCR1 0.10884799808263779 +1995 84627 ZNF469 0.10880701243877411 +1996 6789 STK4 0.10874426364898682 +1997 203228 C9orf72 0.10873405635356903 +1998 1639 DCTN1 0.10870905220508575 +1999 284 ANGPT1 0.10869355499744415 +2000 22872 SEC31A 0.10869112610816956 +2001 3425 IDUA 0.10867148637771606 +2002 90161 HS6ST2 0.1086648553609848 +2003 3858 KRT10 0.10864914208650589 +2004 7075 TIE1 0.10863197594881058 +2005 6884 TAF13 0.10854915529489517 +2006 8468 FKBP6 0.1085335984826088 +2007 3026 HABP2 0.10852407664060593 +2008 525 ATP6V1B1 0.10850702971220016 +2009 1984 EIF5A 0.10845065116882324 +2010 54802 TRIT1 0.10840312391519547 +2011 8241 RBM10 0.1084010899066925 +2012 168507 PKD1L1 0.10837361961603165 +2013 215 ABCD1 0.10830432176589966 +2014 4322 MMP13 0.10827124118804932 +2015 2581 GALC 0.1082584485411644 +2016 128240 NAXE 0.10819308459758759 +2017 3766 KCNJ10 0.10815054178237915 +2018 6909 TBX2 0.10803442448377609 +2019 54808 DYM 0.10798835754394531 +2020 94005 PIGS 0.10797698050737381 +2021 57728 WDR19 0.10789095610380173 +2022 63925 ZNF335 0.1078677624464035 +2023 7424 VEGFC 0.10782378911972046 +2024 53834 FGFRL1 0.1078081801533699 +2025 7467 - 0.1078081801533699 +2026 3854 KRT6B 0.10771414637565613 +2027 9255 AIMP1 0.10766386985778809 +2028 4151 MB 0.10761509090662003 +2029 23310 NCAPD3 0.10754869133234024 +2030 79770 TXNDC15 0.1075269877910614 +2031 5426 POLE 0.10749258100986481 +2032 283446 MYO1H 0.10743345320224762 +2033 805 CALM2 0.10743296891450882 +2034 2956 MSH6 0.10742677748203278 +2035 2058 EPRS1 0.10740115493535995 +2036 1565 CYP2D6 0.10734014213085175 +2037 128869 PIGU 0.10733287036418915 +2038 5241 PGR 0.10732437670230865 +2039 81031 SLC2A10 0.10729025304317474 +2040 5979 RET 0.10719899088144302 +2041 6697 SPR 0.1071774885058403 +2042 11235 PDCD10 0.1071564257144928 +2043 9200 HACD1 0.10705676674842834 +2044 10274 STAG1 0.10704892128705978 +2045 7277 TUBA4A 0.10699833929538727 +2046 801 CALM1 0.10698335617780685 +2047 833 CARS1 0.10690317302942276 +2048 54872 PIGG 0.10690011084079742 +2049 123016 TTC8 0.10682310163974762 +2050 8456 FOXN1 0.10679305344820023 +2051 10785 WDR4 0.10677555948495865 +2052 84277 DNAJC30 0.10676804929971695 +2053 8924 HERC2 0.10670541226863861 +2054 10342 TFG 0.1066717579960823 +2055 220136 CFAP53 0.1066586896777153 +2056 84888 SPPL2A 0.106590636074543 +2057 64756 ATPAF1 0.10649912059307098 +2058 90678 LRSAM1 0.10646598041057587 +2059 7681 MKRN3 0.10643841326236725 +2060 9321 TRIP11 0.1064375787973404 +2061 10021 HCN4 0.1063200980424881 +2062 100151683 RNU4ATAC 0.10631581395864487 +2063 5172 SLC26A4 0.10631352663040161 +2064 80173 IFT74 0.10627922415733337 +2065 443 ASPA 0.10622954368591309 +2066 633 BGN 0.10617499053478241 +2067 79848 CSPP1 0.10610425472259521 +2068 4595 MUTYH 0.10602468997240067 +2069 285362 SUMF1 0.10602250695228577 +2070 54916 TMEM260 0.10598069429397583 +2071 5378 PMS1 0.10593844205141068 +2072 7072 TIA1 0.1058749109506607 +2073 55679 LIMS2 0.10577161610126495 +2074 285175 UNC80 0.10577041655778885 +2075 23287 AGTPBP1 0.10576903820037842 +2076 6473 SHOX 0.10575465857982635 +2077 6045 RNF2 0.10575161129236221 +2078 583 BBS2 0.10569888353347778 +2079 23129 PLXND1 0.10568784177303314 +2080 4744 NEFH 0.10565962642431259 +2081 8659 ALDH4A1 0.10557787120342255 +2082 6262 RYR2 0.10553249716758728 +2083 339983 NAT8L 0.1055193841457367 +2084 60558 GUF1 0.1055179163813591 +2085 1861 TOR1A 0.1054038479924202 +2086 10093 ARPC4 0.10530989617109299 +2087 4808 NHLH2 0.1052439957857132 +2088 11151 CORO1A 0.10519363731145859 +2089 30000 TNPO2 0.10510464757680893 +2090 23554 TSPAN12 0.10506349056959152 +2091 1457 CSNK2A1 0.10505601018667221 +2092 7026 NR2F2 0.10500386357307434 +2093 157570 ESCO2 0.10498333722352982 +2094 3251 HPRT1 0.10497888922691345 +2095 80206 FHOD3 0.10491446405649185 +2096 4803 NGF 0.10491246730089188 +2097 92344 GORAB 0.10490848869085312 +2098 55904 KMT2E 0.10481251031160355 +2099 6866 TAC3 0.10470647364854813 +2100 4556 MT-TE 0.10468072444200516 +2101 2799 GNS 0.104674331843853 +2102 1030 CDKN2B 0.10458842664957047 +2103 5723 PSPH 0.10458557307720184 +2104 57731 SPTBN4 0.10457001626491547 +2105 998 CDC42 0.10456270724534988 +2106 2733 GLE1 0.10450584441423416 +2107 84196 USP48 0.10447660833597183 +2108 121340 SP7 0.10444474965333939 +2109 6439 SFTPB 0.10443410277366638 +2110 91 ACVR1B 0.104423888027668 +2111 25790 CFAP45 0.10436128079891205 +2112 4000 LMNA 0.10434241592884064 +2113 2186 BPTF 0.10431646555662155 +2114 112744 IL17F 0.10430419445037842 +2115 55612 FERMT1 0.10428527742624283 +2116 29895 MYL11 0.10427698493003845 +2117 9361 LONP1 0.10414008796215057 +2118 3170 FOXA2 0.10413548350334167 +2119 54894 RNF43 0.10411766171455383 +2120 88 ACTN2 0.10409221053123474 +2121 9782 MATR3 0.10405958443880081 +2122 51085 MLXIPL 0.10400155931711197 +2123 83636 C19orf12 0.1039886474609375 +2124 25802 LMOD1 0.10397633165121078 +2125 144245 ALG10B 0.10388636589050293 +2126 54805 CNNM2 0.10388094931840897 +2127 51126 NAA20 0.10385693609714508 +2128 5159 PDGFRB 0.1038205549120903 +2129 6897 TARS1 0.1037645936012268 +2130 51569 UFM1 0.10375884920358658 +2131 7443 VRK1 0.1037161722779274 +2132 7124 TNF 0.1036999374628067 +2133 729359 PLIN4 0.10359276086091995 +2134 23767 FLRT3 0.10357557982206345 +2135 83544 DNAL1 0.1035679429769516 +2136 4174 MCM5 0.10352007299661636 +2137 1417 CRYBB3 0.1035131886601448 +2138 10117 ENAM 0.10350580513477325 +2139 388551 CEACAM16 0.10350316017866135 +2140 155382 VPS37D 0.10349728912115097 +2141 9569 GTF2IRD1 0.10349728912115097 +2142 9275 BCL7B 0.10349728912115097 +2143 9031 BAZ1B 0.10349728912115097 +2144 2969 GTF2I 0.10349728912115097 +2145 3984 LIMK1 0.10349728912115097 +2146 135886 TMEM270 0.10349728912115097 +2147 7458 EIF4H 0.10349728912115097 +2148 155368 METTL27 0.10349728912115097 +2149 7461 CLIP2 0.10349728912115097 +2150 114049 BUD23 0.10349728912115097 +2151 26608 TBL2 0.10349728912115097 +2152 84163 GTF2IRD2 0.10349728912115097 +2153 5982 RFC2 0.10349728912115097 +2154 84173 ELMOD3 0.10349474847316742 +2155 3113 HLA-DPA1 0.103487528860569 +2156 5657 PRTN3 0.103487528860569 +2157 7703 PCGF2 0.10346541553735733 +2158 85366 MYLK2 0.10343299806118011 +2159 10079 ATP9A 0.10340284556150436 +2160 11080 DNAJB4 0.10340018570423126 +2161 4313 MMP2 0.10339991003274918 +2162 22909 FAN1 0.10339829325675964 +2163 79068 FTO 0.10338003188371658 +2164 3851 KRT4 0.10335289686918259 +2165 3176 HNMT 0.10327206552028656 +2166 345 APOC3 0.1032450944185257 +2167 727 C5 0.10322702676057816 +2168 146206 CARMIL2 0.10321900248527527 +2169 5567 PRKACB 0.10318849235773087 +2170 6335 SCN9A 0.1031772717833519 +2171 57468 SLC12A5 0.1030953973531723 +2172 3587 IL10RA 0.10308662056922913 +2173 1487 CTBP1 0.10302406549453735 +2174 64581 CLEC7A 0.1030152291059494 +2175 1281 COL3A1 0.10299893468618393 +2176 1369 CPN1 0.10298396646976471 +2177 80155 NAA15 0.10295429080724716 +2178 3679 ITGA7 0.10294656455516815 +2179 50940 PDE11A 0.10293614119291306 +2180 23241 PACS2 0.10289043188095093 +2181 26012 NSMF 0.10288924723863602 +2182 6497 SKI 0.10283241420984268 +2183 1503 CTPS1 0.1028270348906517 +2184 3423 IDS 0.10278868675231934 +2185 2798 GNRHR 0.10278104245662689 +2186 4221 MEN1 0.10270083695650101 +2187 3849 KRT2 0.10262131690979004 +2188 10060 ABCC9 0.10261998325586319 +2189 3814 KISS1 0.10261508822441101 +2190 5264 PHYH 0.10260572284460068 +2191 51807 TUBA8 0.102584108710289 +2192 54800 KLHL24 0.1025765985250473 +2193 2070 EYA4 0.10255998373031616 +2194 105259599 - 0.10250712186098099 +2195 3257 HPS1 0.1024957224726677 +2196 92667 MGME1 0.10246405750513077 +2197 4144 MAT2A 0.10245075821876526 +2198 23493 HEY2 0.10245075821876526 +2199 3899 AFF3 0.10242198407649994 +2200 3848 KRT1 0.1023976281285286 +2201 23435 TARDBP 0.10223560035228729 +2202 7148 TNXB 0.10220879316329956 +2203 54903 MKS1 0.10218676924705505 +2204 338657 CENATAC 0.10214810818433762 +2205 23114 NFASC 0.10212704539299011 +2206 2121 EVC 0.10211190581321716 +2207 132884 EVC2 0.10211190581321716 +2208 7477 WNT7B 0.10210466384887695 +2209 5903 RANBP2 0.10209387540817261 +2210 10398 MYL9 0.10204271972179413 +2211 9702 CEP57 0.10191220790147781 +2212 92335 STRADA 0.1018756702542305 +2213 7555 CNBP 0.10180886834859848 +2214 4292 MLH1 0.10175731033086777 +2215 10133 OPTN 0.10168878734111786 +2216 7343 UBTF 0.10166236013174057 +2217 51763 INPP5K 0.10165958106517792 +2218 3953 LEPR 0.10161001235246658 +2219 200894 ARL13B 0.10159285366535187 +2220 80184 CEP290 0.10159136354923248 +2221 699 BUB1 0.10158713907003403 +2222 55717 WDR11 0.10157577693462372 +2223 54681 P4HTM 0.10152780264616013 +2224 5053 PAH 0.1014525517821312 +2225 1837 DTNA 0.10143931955099106 +2226 53630 BCO1 0.10143060982227325 +2227 2006 ELN 0.10142263770103455 +2228 253017 TECRL 0.1013699546456337 +2229 23765 IL17RA 0.10134586691856384 +2230 9150 CTDP1 0.10134284198284149 +2231 5216 PFN1 0.10110326111316681 +2232 165 AEBP1 0.1010165587067604 +2233 2626 GATA4 0.1010037437081337 +2234 5224 PGAM2 0.10096176713705063 +2235 60675 PROK2 0.10092798620462418 +2236 4626 MYH8 0.1009010449051857 +2237 7374 UNG 0.10086795687675476 +2238 128674 PROKR2 0.10076159238815308 +2239 6507 SLC1A3 0.10075750201940536 +2240 9049 AIP 0.10070158541202545 +2241 7468 NSD2 0.10066280514001846 +2242 137492 VPS37A 0.10064265877008438 +2243 5116 PCNT 0.10063676536083221 +2244 10491 CRTAP 0.10062246024608612 +2245 3952 LEP 0.10055564343929291 +2246 51025 PAM16 0.10052938759326935 +2247 6905 TBCE 0.10052887350320816 +2248 3852 KRT5 0.10052886605262756 +2249 8438 RAD54L 0.10051427036523819 +2250 8517 IKBKG 0.10051072388887405 +2251 4286 MITF 0.10050228983163834 +2252 3704 ITPA 0.10049368441104889 +2253 9690 UBE3C 0.10048313438892365 +2254 29968 PSAT1 0.10045893490314484 +2255 23446 SLC44A1 0.10044945031404495 +2256 6658 SOX3 0.10042893886566162 +2257 27030 MLH3 0.10042853653430939 +2258 79188 TMEM43 0.10040602087974548 +2259 171568 POLR3H 0.10039041191339493 +2260 3861 KRT14 0.10033845901489258 +2261 4774 NFIA 0.10028897225856781 +2262 11149 BVES 0.1002185046672821 +2263 26509 MYOF 0.10015876591205597 +2264 2997 GYS1 0.10010755807161331 +2265 6911 TBX6 0.10009090602397919 +2266 117531 TMC1 0.10004941374063492 +2267 631 BFSP1 0.10002843290567398 +2268 50 ACO2 0.10002613812685013 +2269 283 ANG 0.09989603608846664 +2270 5950 RBP4 0.09985960274934769 +2271 83452 RAB33B 0.09982014447450638 +2272 55746 NUP133 0.09982012212276459 +2273 6314 ATXN7 0.09968910366296768 +2274 10984 KCNQ1OT1 0.09965795278549194 +2275 5139 PDE3A 0.09963256865739822 +2276 1499 CTNNB1 0.09957033395767212 +2277 8301 PICALM 0.09953316301107407 +2278 6455 SH3GL1 0.09953316301107407 +2279 4026 LPP 0.09953316301107407 +2280 8028 MLLT10 0.09953316301107407 +2281 1050 CEBPA 0.09953316301107407 +2282 26511 CHIC2 0.09953316301107407 +2283 9496 TBX4 0.09951411932706833 +2284 23224 SYNE2 0.09950465708971024 +2285 717 C2 0.09942775219678879 +2286 29110 TBK1 0.09941121935844421 +2287 7957 EPM2A 0.09937584400177002 +2288 4692 NDN 0.09925295412540436 +2289 6862 TBXT 0.0992223471403122 +2290 2887 GRB10 0.09919726103544235 +2291 1690 COCH 0.09916917234659195 +2292 93587 TRMT10A 0.09916799515485764 +2293 80217 CFAP43 0.09912296384572983 +2294 1959 EGR2 0.09911828488111496 +2295 83987 CCDC8 0.09911719709634781 +2296 51633 OTUD6B 0.09900820255279541 +2297 529 ATP6V1E1 0.09897403419017792 +2298 79659 DYNC2H1 0.0989694818854332 +2299 6505 SLC1A1 0.09896311163902283 +2300 3739 KCNA4 0.09896203875541687 +2301 23092 ARHGAP26 0.0989433079957962 +2302 5281 PIGF 0.09892355650663376 +2303 1848 DUSP6 0.09888797998428345 +2304 81848 SPRY4 0.09888797998428345 +2305 8822 FGF17 0.09888742119073868 +2306 10991 SLC38A3 0.0988684669137001 +2307 9871 SEC24D 0.0988631621003151 +2308 55164 SHQ1 0.09885801374912262 +2309 80055 PGAP1 0.09883158653974533 +2310 4620 MYH2 0.09877410531044006 +2311 2719 GPC3 0.09877150505781174 +2312 6820 SULT2B1 0.09875813126564026 +2313 9531 BAG3 0.09875084459781647 +2314 9401 RECQL4 0.09872394800186157 +2315 2322 FLT3 0.09869419038295746 +2316 2301 FOXE3 0.09866977483034134 +2317 5333 PLCD1 0.09866499900817871 +2318 9152 SLC6A5 0.09863362461328506 +2319 6263 RYR3 0.09862402081489563 +2320 5605 MAP2K2 0.09846232086420059 +2321 10846 PDE10A 0.09845089912414551 +2322 54539 NDUFB11 0.0984162837266922 +2323 285848 PNPLA1 0.09837028384208679 +2324 18 ABAT 0.09836232662200928 +2325 5092 PCBD1 0.09833996742963791 +2326 121214 SDR9C7 0.0983305498957634 +2327 153642 ARSK 0.09827724099159241 +2328 111 ADCY5 0.09826575219631195 +2329 2555 GABRA2 0.09820831567049026 +2330 8878 SQSTM1 0.0981561541557312 +2331 5860 QDPR 0.09815371036529541 +2332 23529 CLCF1 0.09814295172691345 +2333 26229 B3GAT3 0.09812705963850021 +2334 3853 KRT6A 0.09810205549001694 +2335 29969 MDFIC 0.09808928519487381 +2336 1184 CLCN5 0.09800859540700912 +2337 2273 FHL1 0.09795241057872772 +2338 400916 CHCHD10 0.09787232428789139 +2339 5339 PLEC 0.09786275774240494 +2340 152926 PPM1K 0.09784410893917084 +2341 871 SERPINH1 0.09780960530042648 +2342 30008 EFEMP2 0.09778054058551788 +2343 7084 TK2 0.09774543344974518 +2344 3339 HSPG2 0.09765341877937317 +2345 4632 MYL1 0.0976259857416153 +2346 28956 LAMTOR2 0.09762103855609894 +2347 5002 SLC22A18 0.0976099744439125 +2348 311 ANXA11 0.09758861362934113 +2349 10111 RAD50 0.0975550189614296 +2350 80067 DCAF17 0.09749042987823486 +2351 93166 PRDM6 0.09748690575361252 +2352 7234 TRU-TCA1-1 0.09748674184083939 +2353 2304 FOXE1 0.09745656698942184 +2354 133396 IL31RA 0.09744998067617416 +2355 5590 PRKCZ 0.09739987552165985 +2356 8514 KCNAB2 0.09739987552165985 +2357 10630 PDPN 0.09739987552165985 +2358 8510 MMP23B 0.09739987552165985 +2359 7798 LUZP1 0.09739987552165985 +2360 10277 UBE4B 0.09739987552165985 +2361 54897 CASZ1 0.09739987552165985 +2362 5728 PTEN 0.09738198667764664 +2363 7915 ALDH5A1 0.09737704694271088 +2364 10516 FBLN5 0.09737643599510193 +2365 667 DST 0.09735885262489319 +2366 84894 LINGO1 0.09734392166137695 +2367 9786 KIAA0586 0.09731505066156387 +2368 2796 GNRH1 0.09730584919452667 +2369 1747 DLX3 0.09727112948894501 +2370 4773 NFATC2 0.09726685285568237 +2371 170825 GSX2 0.09725378453731537 +2372 5805 PTS 0.09725303202867508 +2373 51778 MYOZ2 0.09724253416061401 +2374 91574 MTRFR 0.09723760187625885 +2375 1832 DSP 0.09722632169723511 +2376 84818 IL17RC 0.09719514846801758 +2377 10588 MTHFS 0.0971689522266388 +2378 2200 FBN1 0.09715264290571213 +2379 9439 MED23 0.09713906049728394 +2380 10617 STAMBP 0.0970873311161995 +2381 6687 SPG7 0.09706141799688339 +2382 1314 COPA 0.09690912067890167 +2383 3208 HPCA 0.09690147638320923 +2384 63915 BLOC1S5 0.0968748927116394 +2385 3481 IGF2 0.09687282890081406 +2386 23169 SLC35D1 0.09687204658985138 +2387 4646 MYO6 0.09682144224643707 +2388 2395 FXN 0.09681481122970581 +2389 347688 TUBB8 0.09681432694196701 +2390 2556 GABRA3 0.09680090844631195 +2391 5718 PSMD12 0.09675577282905579 +2392 3977 LIFR 0.09669157862663269 +2393 2670 GFAP 0.09669139981269836 +2394 2707 GJB3 0.09668564051389694 +2395 4340 MOG 0.09666801244020462 +2396 7874 USP7 0.09663213044404984 +2397 51293 CD320 0.09661851823329926 +2398 220296 HEPACAM 0.09651020914316177 +2399 285 ANGPT2 0.09650520980358124 +2400 10464 PIBF1 0.09647530317306519 +2401 6910 TBX5 0.0964190736413002 +2402 23236 PLCB1 0.09639327228069305 +2403 339855 KY 0.09631427377462387 +2404 55152 DALRD3 0.09629413485527039 +2405 10456 HAX1 0.09625672549009323 +2406 55599 RNPC3 0.09624136239290237 +2407 168667 BMPER 0.09620256721973419 +2408 410 ARSA 0.09616608917713165 +2409 899 CCNF 0.0961051657795906 +2410 6558 SLC12A2 0.09608936309814453 +2411 10329 RXYLT1 0.09602846950292587 +2412 2591 GALNT3 0.09599419683218002 +2413 126410 CYP4F22 0.09596387296915054 +2414 10815 CPLX1 0.0959545150399208 +2415 92935 MARS2 0.09595417976379395 +2416 54209 TREM2 0.09592733532190323 +2417 6531 SLC6A3 0.09591079503297806 +2418 10758 TRAF3IP2 0.09589093923568726 +2419 124093 CCDC78 0.09588812291622162 +2420 51399 TRAPPC4 0.09586527198553085 +2421 11155 LDB3 0.09581882506608963 +2422 9373 PLAA 0.09581746906042099 +2423 1180 CLCN1 0.09580129384994507 +2424 2066 ERBB4 0.09579810500144958 +2425 11113 CIT 0.09575936943292618 +2426 11011 TLK2 0.09575589001178741 +2427 1201 CLN3 0.09574838727712631 +2428 5654 HTRA1 0.09574728459119797 +2429 389692 MAFA 0.09573051333427429 +2430 374462 PTPRQ 0.095725417137146 +2431 920 CD4 0.09568408131599426 +2432 55765 INAVA 0.09557178616523743 +2433 25788 RAD54B 0.09547846019268036 +2434 64208 POPDC3 0.09545538574457169 +2435 9639 ARHGEF10 0.09545115381479263 +2436 20 ABCA2 0.0954459086060524 +2437 23291 FBXW11 0.09543819725513458 +2438 84466 MEGF10 0.09537005424499512 +2439 64432 MRPS25 0.09530089050531387 +2440 55835 CENPJ 0.09526380896568298 +2441 57192 MCOLN1 0.09522291272878647 +2442 203859 ANO5 0.09519476443529129 +2443 4053 LTBP2 0.09514330327510834 +2444 4509 MT-ATP8 0.09510669857263565 +2445 4625 MYH7 0.0950569361448288 +2446 197257 LDHD 0.09502162784337997 +2447 1107 CHD3 0.0949365645647049 +2448 2890 GRIA1 0.09490954875946045 +2449 246243 RNASEH1 0.09481007605791092 +2450 29940 DSE 0.09477507323026657 +2451 2563 GABRD 0.09477115422487259 +2452 51715 RAB23 0.09469185024499893 +2453 26058 GIGYF2 0.09458018839359283 +2454 36 ACADSB 0.09457907825708389 +2455 6711 SPTBN1 0.09453605860471725 +2456 6491 STIL 0.09451141953468323 +2457 673 BRAF 0.09451005607843399 +2458 51142 CHCHD2 0.09449511021375656 +2459 4054 LTBP3 0.09447114914655685 +2460 5393 EXOSC9 0.09442177414894104 +2461 23545 ATP6V0A2 0.09439342468976974 +2462 6870 TACR3 0.09435990452766418 +2463 7780 SLC30A2 0.09435102343559265 +2464 9394 HS6ST1 0.09433625638484955 +2465 4204 MECP2 0.09427293390035629 +2466 3284 HSD3B2 0.09424077719449997 +2467 55704 CCDC88A 0.09424012899398804 +2468 84081 NSRP1 0.09419497847557068 +2469 23250 ATP11A 0.09418729692697525 +2470 79572 ATP13A3 0.0941057801246643 +2471 2475 MTOR 0.09409860521554947 +2472 91754 NEK9 0.09403790533542633 +2473 204219 CERS3 0.09400206804275513 +2474 389827 MYMK 0.09397173672914505 +2475 3913 LAMB2 0.0939716026186943 +2476 1950 EGF 0.09395892173051834 +2477 185 AGTR1 0.09391842037439346 +2478 183 AGT 0.09391842037439346 +2479 5832 ALDH18A1 0.09384956955909729 +2480 9325 TRIP4 0.0938371792435646 +2481 79947 DHDDS 0.09379349648952484 +2482 54551 MAGEL2 0.09378685802221298 +2483 55975 KLHL7 0.09375756233930588 +2484 9791 PTDSS1 0.09375273436307907 +2485 1749 DLX5 0.09372831135988235 +2486 7259 TSPYL1 0.09370968490839005 +2487 30011 SH3KBP1 0.09360114485025406 +2488 728294 D2HGDH 0.09353983402252197 +2489 23203 PMPCA 0.09351105242967606 +2490 26092 TOR1AIP1 0.09349930286407471 +2491 146862 UNC45B 0.09349751472473145 +2492 161742 SPRED1 0.09346853941679001 +2493 57231 SNX14 0.09343725442886353 +2494 3908 LAMA2 0.09342168271541595 +2495 11146 GLMN 0.09338590502738953 +2496 146845 CFAP52 0.09336565434932709 +2497 10653 SPINT2 0.09330008924007416 +2498 8106 PABPN1 0.09329838305711746 +2499 140803 TRPM6 0.09328088909387589 +2500 429 ASCL1 0.09326180815696716 +2501 84892 POMGNT2 0.09325914829969406 +2502 2316 FLNA 0.09323123097419739 +2503 5500 PPP1CB 0.09321122616529465 +2504 51082 POLR1D 0.09314750134944916 +2505 1788 DNMT3A 0.09311957657337189 +2506 7274 TTPA 0.09310803562402725 +2507 136647 MPLKIP 0.09310050308704376 +2508 84706 GPT2 0.09306572377681732 +2509 126792 B3GALT6 0.09302881360054016 +2510 23007 PLCH1 0.09302211552858353 +2511 6938 TCF12 0.0930141806602478 +2512 54870 QRICH1 0.09295666962862015 +2513 3115 HLA-DPB1 0.09294956922531128 +2514 60495 HPSE2 0.09292051196098328 +2515 113189 CHST14 0.09285321086645126 +2516 348938 NIPAL4 0.09278813004493713 +2517 152110 NEK10 0.09277691692113876 +2518 57654 UVSSA 0.09271556884050369 +2519 775 CACNA1C 0.09269783645868301 +2520 486 FXYD2 0.0926903560757637 +2521 2992 GYG1 0.09264259040355682 +2522 3110 MNX1 0.09263522922992706 +2523 10621 POLR3F 0.0926181823015213 +2524 56975 FAM20C 0.09260553866624832 +2525 201163 FLCN 0.09259775280952454 +2526 28958 COA3 0.09256333112716675 +2527 57716 PRX 0.09255016595125198 +2528 3872 KRT17 0.09253627806901932 +2529 1308 COL17A1 0.09251072257757187 +2530 5625 PRODH 0.09246431291103363 +2531 81788 NUAK2 0.09240329265594482 +2532 5230 PGK1 0.09238030761480331 +2533 2483 FRG1 0.09233638644218445 +2534 57094 CPA6 0.09233298897743225 +2535 55733 HHAT 0.09231732040643692 +2536 90417 KNSTRN 0.09226315468549728 +2537 84992 PIGY 0.09220761060714722 +2538 5479 PPIB 0.09217461198568344 +2539 2741 GLRA1 0.09211164712905884 +2540 64902 AGXT2 0.09211044013500214 +2541 55621 TRMT1 0.09209217876195908 +2542 716 C1S 0.09209071099758148 +2543 399 RHOH 0.09206286072731018 +2544 1284 COL4A2 0.0919574424624443 +2545 79628 SH3TC2 0.09193672984838486 +2546 347734 SLC35B2 0.09191062301397324 +2547 1291 COL6A1 0.09190484881401062 +2548 10935 PRDX3 0.09190408885478973 +2549 10716 TBR1 0.09189899265766144 +2550 85007 PHYKPL 0.09189741313457489 +2551 55753 OGDHL 0.09188816696405411 +2552 10625 IVNS1ABP 0.0918850526213646 +2553 55737 VPS35 0.09186520427465439 +2554 1282 COL4A1 0.09185691922903061 +2555 84172 POLR1B 0.09172596782445908 +2556 64072 CDH23 0.09169831871986389 +2557 1286 COL4A4 0.09169542044401169 +2558 60529 ALX4 0.09166336059570312 +2559 51693 TRAPPC2L 0.09164907783269882 +2560 23636 NUP62 0.09162288159132004 +2561 81562 LMAN2L 0.09155244380235672 +2562 653509 SFTPA1 0.09142773598432541 +2563 755 CFAP410 0.09136072546243668 +2564 125170 MIEF2 0.0913461223244667 +2565 2036 EPB41L1 0.09133317321538925 +2566 85446 ZFHX2 0.09131180495023727 +2567 64131 XYLT1 0.09129393845796585 +2568 825 CAPN3 0.09128961712121964 +2569 390594 KBTBD13 0.09122955054044724 +2570 11284 PNKP 0.09121561795473099 +2571 6445 SGCG 0.09117045998573303 +2572 8292 COLQ 0.09113775938749313 +2573 85021 REPS1 0.09110558032989502 +2574 138050 HGSNAT 0.09107798337936401 +2575 415 ARSL 0.0910571813583374 +2576 1410 CRYAB 0.09104396402835846 +2577 8260 NAA10 0.09099205583333969 +2578 84617 TUBB6 0.09097161889076233 +2579 1436 CSF1R 0.09091044217348099 +2580 6651 SON 0.09089507907629013 +2581 55012 PPP2R3C 0.0908927172422409 +2582 6652 SORD 0.09081802517175674 +2583 112 ADCY6 0.09077002853155136 +2584 58508 KMT2C 0.09074752032756805 +2585 9217 VAPB 0.09072282910346985 +2586 9184 BUB3 0.09070491790771484 +2587 1267 CNP 0.09069114178419113 +2588 83959 SLC4A11 0.09068983793258667 +2589 7469 NELFA 0.09067883342504501 +2590 3480 IGF1R 0.0906730592250824 +2591 2214 FCGR3A 0.0906195119023323 +2592 80232 WDR26 0.09059005230665207 +2593 27152 INTU 0.09056520462036133 +2594 4796 TONSL 0.09052541106939316 +2595 7415 VCP 0.09046308696269989 +2596 78987 CRELD1 0.09045926481485367 +2597 26100 WIPI2 0.09045793861150742 +2598 93627 TBCK 0.09044216573238373 +2599 10269 ZMPSTE24 0.09044186025857925 +2600 63929 XPNPEP3 0.09043194353580475 +2601 4838 NODAL 0.0903838574886322 +2602 3190 HNRNPK 0.09037880599498749 +2603 112752 IFT43 0.09037487208843231 +2604 6492 SIM1 0.090355783700943 +2605 493753 COA5 0.09031009674072266 +2606 6301 SARS1 0.09024092555046082 +2607 9487 PIGL 0.0902147889137268 +2608 781 CACNA2D1 0.09020166844129562 +2609 2071 ERCC3 0.09016654640436172 +2610 2770 GNAI1 0.09015119820833206 +2611 65260 COA7 0.0901397094130516 +2612 51008 ASCC1 0.09012720733880997 +2613 1185 CLCN6 0.09007308632135391 +2614 4256 MGP 0.09004946053028107 +2615 5970 RELA 0.09002996236085892 +2616 27245 AHDC1 0.0900135263800621 +2617 1981 EIF4G1 0.08992870151996613 +2618 57222 ERGIC1 0.08992291986942291 +2619 9342 SNAP29 0.08988634496927261 +2620 3321 IGSF3 0.0898849293589592 +2621 1316 KLF6 0.08980468660593033 +2622 4568 MT-TL2 0.08978983759880066 +2623 79648 MCPH1 0.089749276638031 +2624 6663 SOX10 0.08972720801830292 +2625 23334 SZT2 0.08969969302415848 +2626 7138 TNNT1 0.0896955356001854 +2627 83480 PUS3 0.08958742767572403 +2628 6442 SGCA 0.08950359374284744 +2629 819 CAMLG 0.08947139233350754 +2630 3835 KIF22 0.08942458033561707 +2631 23233 EXOC6B 0.08941905200481415 +2632 1024 CDK8 0.08936121314764023 +2633 57216 VANGL2 0.08930957317352295 +2634 5015 OTX2 0.08927030861377716 +2635 29119 CTNNA3 0.08924578875303268 +2636 116150 NUS1 0.08923257142305374 +2637 95 ACY1 0.08919283747673035 +2638 64218 SEMA4A 0.08918476849794388 +2639 440275 EIF2AK4 0.08917873352766037 +2640 7297 TYK2 0.08916773647069931 +2641 57020 VPS35L 0.08916038274765015 +2642 25836 NIPBL 0.08911927789449692 +2643 3064 HTT 0.08907349407672882 +2644 1911 PHC1 0.08905916661024094 +2645 343637 RSPO4 0.08899437636137009 +2646 5317 PKP1 0.08896997570991516 +2647 9636 ISG15 0.08887971192598343 +2648 9896 FIG4 0.0888543426990509 +2649 4287 ATXN3 0.0887623280286789 +2650 23141 ANKLE2 0.08874484151601791 +2651 2776 GNAQ 0.0887359082698822 +2652 440 ASNS 0.08867636322975159 +2653 127534 GJB4 0.08867467939853668 +2654 5058 PAK1 0.08866358548402786 +2655 9154 SLC28A1 0.08861340582370758 +2656 2253 FGF8 0.08860763907432556 +2657 2068 ERCC2 0.0885697603225708 +2658 10379 IRF9 0.08855611830949783 +2659 90522 YIF1B 0.08852937817573547 +2660 116085 SLC22A12 0.08846078813076019 +2661 9326 ZNHIT3 0.08845171332359314 +2662 81620 CDT1 0.088443823158741 +2663 63908 NAPB 0.08841127902269363 +2664 25871 NEPRO 0.08840998262166977 +2665 89970 RSPRY1 0.08840591460466385 +2666 5361 PLXNA1 0.08837299048900604 +2667 8867 SYNJ1 0.08832671493291855 +2668 10683 DLL3 0.08832412213087082 +2669 26999 CYFIP2 0.08830680698156357 +2670 8604 SLC25A12 0.08829061686992645 +2671 491 ATP2B2 0.08828199654817581 +2672 4763 NF1 0.08827967196702957 +2673 64321 SOX17 0.08826202154159546 +2674 581 BAX 0.08804693073034286 +2675 29123 ANKRD11 0.08800703287124634 +2676 6840 SVIL 0.08800358325242996 +2677 161582 DNAAF4 0.08798277378082275 +2678 5664 PSEN2 0.08798227459192276 +2679 8322 FZD4 0.08796636015176773 +2680 57190 SELENON 0.08791699260473251 +2681 10253 SPRY2 0.08790779113769531 +2682 81790 RNF170 0.08781936764717102 +2683 50937 CDON 0.08779707551002502 +2684 7369 UMOD 0.08779418468475342 +2685 30009 TBX21 0.08777648955583572 +2686 23483 TGDS 0.08769822865724564 +2687 59344 ALOXE3 0.08767738938331604 +2688 16 AARS1 0.08763682842254639 +2689 25977 NECAP1 0.08759473264217377 +2690 23498 HAAO 0.08758636564016342 +2691 22906 TRAK1 0.08755011856555939 +2692 57591 MRTFA 0.08753453195095062 +2693 55526 DHTKD1 0.08750566095113754 +2694 84133 ZNRF3 0.08749006688594818 +2695 139285 AMER1 0.08747664839029312 +2696 22866 CNKSR2 0.08747576177120209 +2697 84942 WDR73 0.08745068311691284 +2698 55191 NADSYN1 0.08738714456558228 +2699 844 CASQ1 0.08737415820360184 +2700 11041 B4GAT1 0.08734583109617233 +2701 254428 SLC41A1 0.08726809173822403 +2702 145873 MESP2 0.08721832185983658 +2703 9071 CLDN10 0.0872163400053978 +2704 4148 MATN3 0.08715569227933884 +2705 388552 BLOC1S3 0.08714559674263 +2706 406932 MIR140 0.08711276948451996 +2707 6091 ROBO1 0.08710721880197525 +2708 1491 CTH 0.0870869904756546 +2709 2742 GLRA2 0.08704914897680283 +2710 10681 GNB5 0.08704403787851334 +2711 80025 PANK2 0.08696120232343674 +2712 54517 PUS7 0.0869450643658638 +2713 22930 RAB3GAP1 0.08694282174110413 +2714 84068 SLC10A7 0.08693104237318039 +2715 10371 SEMA3A 0.08692195266485214 +2716 91137 SLC25A46 0.08692032098770142 +2717 3236 HOXD10 0.0869121178984642 +2718 57520 HECW2 0.08690319210290909 +2719 26115 TANC2 0.08690100908279419 +2720 23630 KCNE5 0.08689258247613907 +2721 1725 DHPS 0.08686397969722748 +2722 157680 VPS13B 0.08684937655925751 +2723 8788 DLK1 0.0868339017033577 +2724 55384 MEG3 0.0868339017033577 +2725 388015 RTL1 0.0868339017033577 +2726 51102 MECR 0.08682099729776382 +2727 8318 CDC45 0.08681371062994003 +2728 990 CDC6 0.08680702745914459 +2729 2512 FTL 0.08677313476800919 +2730 4948 OCA2 0.08676718175411224 +2731 2558 GABRA5 0.08675972372293472 +2732 1120 CHKB 0.08666320145130157 +2733 7965 AIMP2 0.08665810525417328 +2734 387700 SLC16A12 0.08665554970502853 +2735 242 ALOX12B 0.08664985001087189 +2736 10484 SEC23A 0.08663569390773773 +2737 2771 GNAI2 0.08659253269433975 +2738 120892 LRRK2 0.08657204359769821 +2739 5155 PDGFB 0.08656148612499237 +2740 285590 SH3PXD2B 0.08655162155628204 +2741 4093 SMAD9 0.08654781430959702 +2742 1019 CDK4 0.08651699125766754 +2743 4038 LRP4 0.08650075644254684 +2744 3737 KCNA2 0.08641602098941803 +2745 9820 CUL7 0.08640596270561218 +2746 8930 MBD4 0.08639177680015564 +2747 9662 CEP135 0.0863601490855217 +2748 200424 TET3 0.08634355664253235 +2749 2561 GABRB2 0.08631373196840286 +2750 2218 FKTN 0.08631183207035065 +2751 84978 FRMD5 0.08630511909723282 +2752 1299 COL9A3 0.08629994839429855 +2753 6535 SLC6A8 0.08629915118217468 +2754 2906 GRIN2D 0.08628957718610764 +2755 9699 RIMS2 0.08627907931804657 +2756 3483 IGFALS 0.08625660836696625 +2757 190 NR0B1 0.08623495697975159 +2758 84631 SLITRK2 0.08619420230388641 +2759 64801 ARV1 0.08617720007896423 +2760 317662 FAM149B1 0.08617597818374634 +2761 2521 FUS 0.08614227920770645 +2762 5336 PLCG2 0.08605601638555527 +2763 55806 HR 0.08603163063526154 +2764 4222 MEOX1 0.08597644418478012 +2765 55699 IARS2 0.0859532430768013 +2766 644096 SDHAF1 0.08594517409801483 +2767 84168 ANTXR1 0.08594006299972534 +2768 11117 EMILIN1 0.08590897917747498 +2769 55690 PACS1 0.0858665183186531 +2770 3060 HCRT 0.08582236617803574 +2771 5881 RAC3 0.0857529267668724 +2772 6329 SCN4A 0.08575151860713959 +2773 547 KIF1A 0.08572661876678467 +2774 56915 EXOSC5 0.08568663895130157 +2775 2531 KDSR 0.08566953241825104 +2776 23761 PISD 0.08565959334373474 +2777 340665 CYP26C1 0.08558477461338043 +2778 8493 PPM1D 0.0855708196759224 +2779 6530 SLC6A2 0.08552680164575577 +2780 117156 SCGB3A2 0.08550336211919785 +2781 4589 MUC7 0.08550336211919785 +2782 240 ALOX5 0.08550336211919785 +2783 6356 CCL11 0.08550336211919785 +2784 3596 IL13 0.08550336211919785 +2785 3135 HLA-G 0.08550336211919785 +2786 22948 CCT5 0.08546847850084305 +2787 101060691 NUTM2B-AS1 0.08545267581939697 +2788 5649 RELN 0.08541549742221832 +2789 56479 KCNQ5 0.08541520684957504 +2790 1806 DPYD 0.08540891855955124 +2791 6324 SCN1B 0.0854005292057991 +2792 284403 WDR62 0.08540011197328568 +2793 2934 GSN 0.08536839485168457 +2794 2232 FDXR 0.08531755208969116 +2795 23001 WDFY3 0.08529699593782425 +2796 29081 METTL5 0.08523325622081757 +2797 11198 SUPT16H 0.08521248400211334 +2798 10908 PNPLA6 0.08521135151386261 +2799 80776 B9D2 0.08518049120903015 +2800 3764 KCNJ8 0.08512984216213226 +2801 10747 MASP2 0.0851169154047966 +2802 7273 TTN 0.08509348332881927 +2803 487 ATP2A1 0.08508852869272232 +2804 10522 DEAF1 0.08508328348398209 +2805 2736 GLI2 0.08505049347877502 +2806 7170 TPM3 0.08503160625696182 +2807 28514 DLL1 0.08495128899812698 +2808 1490 CCN2 0.08490539342164993 +2809 1235 CCR6 0.08490539342164993 +2810 5000 ORC4 0.08488935977220535 +2811 11322 TMC6 0.08488333225250244 +2812 2303 FOXC2 0.08486384153366089 +2813 51412 ACTL6B 0.08483365178108215 +2814 10049 DNAJB6 0.08483143895864487 +2815 55034 MOCOS 0.08482539653778076 +2816 123624 AGBL1 0.08481185883283615 +2817 341208 HEPHL1 0.08480913192033768 +2818 26047 CNTNAP2 0.08476825803518295 +2819 51506 UFC1 0.08475999534130096 +2820 9987 HNRNPDL 0.08474338799715042 +2821 9897 WASHC5 0.0847368836402893 +2822 55129 ANO10 0.08473646640777588 +2823 51098 IFT52 0.08472117781639099 +2824 7051 TGM1 0.08466479182243347 +2825 1062 CENPE 0.0846620425581932 +2826 6533 SLC6A6 0.08464328199625015 +2827 23312 DMXL2 0.08463363349437714 +2828 7050 TGIF1 0.08461502194404602 +2829 54361 WNT4 0.08460798859596252 +2830 9197 SLC33A1 0.08459342271089554 +2831 27125 AFF4 0.084576815366745 +2832 25778 DSTYK 0.08452288061380386 +2833 1763 DNA2 0.08450093865394592 +2834 145173 B3GLCT 0.08449947088956833 +2835 816 CAMK2B 0.08448343724012375 +2836 9180 OSMR 0.08447287976741791 +2837 9860 LRIG2 0.08446425199508667 +2838 4052 LTBP1 0.08446210622787476 +2839 57534 MIB1 0.08445770293474197 +2840 55697 VAC14 0.08438727259635925 +2841 9131 AIFM1 0.0843820795416832 +2842 64419 MTMR14 0.08433007448911667 +2843 5530 PPP3CA 0.08432552218437195 +2844 50717 DCAF8 0.08431708812713623 +2845 126 ADH1C 0.08431444317102432 +2846 677814 SNORA31 0.0842776671051979 +2847 7532 YWHAG 0.08427252620458603 +2848 9091 PIGQ 0.0842641144990921 +2849 5176 SERPINF1 0.0841529369354248 +2850 124583 CANT1 0.08412627875804901 +2851 3008 H1-4 0.0840853899717331 +2852 2302 FOXJ1 0.08406849950551987 +2853 3455 IFNAR2 0.08402185142040253 +2854 176 ACAN 0.08401351422071457 +2855 1280 COL2A1 0.08397386968135834 +2856 925 CD8A 0.08397316187620163 +2857 860 RUNX2 0.08391117304563522 +2858 23363 OBSL1 0.08384536951780319 +2859 3659 IRF1 0.08381975442171097 +2860 145258 GSC 0.0838039293885231 +2861 104 ADARB1 0.08377372473478317 +2862 148789 B3GALNT2 0.08374839276075363 +2863 4858 NOVA2 0.0837218314409256 +2864 4976 OPA1 0.083716981112957 +2865 80254 CEP63 0.08371506631374359 +2866 25885 POLR1A 0.08366769552230835 +2867 30817 ADGRE2 0.08362206071615219 +2868 7054 TH 0.08360554277896881 +2869 267010 RNU12 0.08360416442155838 +2870 9570 GOSR2 0.08360271900892258 +2871 10659 CELF2 0.08359502255916595 +2872 1119 CHKA 0.08355703204870224 +2873 539 ATP5PO 0.08354580402374268 +2874 5593 PRKG2 0.08351493626832962 +2875 473 RERE 0.08347678929567337 +2876 580 BARD1 0.08343082666397095 +2877 3752 KCND3 0.08342892676591873 +2878 4193 MDM2 0.08335340023040771 +2879 54664 TMEM106B 0.08332628011703491 +2880 1021 CDK6 0.08328308165073395 +2881 361 AQP4 0.083254374563694 +2882 9060 PAPSS2 0.08312972635030746 +2883 56983 POGLUT1 0.08304762840270996 +2884 3460 IFNGR2 0.08304672688245773 +2885 84919 PPP1R15B 0.08302248269319534 +2886 9215 LARGE1 0.08301924914121628 +2887 89780 WNT3A 0.08297811448574066 +2888 3759 KCNJ2 0.08289676159620285 +2889 83538 ODAD4 0.08288881182670593 +2890 731 C8A 0.0828862339258194 +2891 56947 MFF 0.0828644186258316 +2892 4998 ORC1 0.08285605162382126 +2893 5995 RGR 0.08276334404945374 +2894 8294 H4C9 0.08273503929376602 +2895 10293 TRAIP 0.08265795558691025 +2896 3239 HOXD13 0.08265253901481628 +2897 8405 SPOP 0.08265158534049988 +2898 7175 TPR 0.08265089988708496 +2899 79813 EHMT1 0.08264613151550293 +2900 51112 TRAPPC12 0.08262144774198532 +2901 54487 DGCR8 0.08259012550115585 +2902 8214 DGCR6 0.08259012550115585 +2903 9993 DGCR2 0.08259012550115585 +2904 8220 ESS2 0.08259012550115585 +2905 1300 COL10A1 0.08256649971008301 +2906 7707 ZNF148 0.0825607106089592 +2907 79882 ZC3H14 0.08255430310964584 +2908 56603 CYP26B1 0.08252299576997757 +2909 1656 DDX6 0.082520492374897 +2910 6443 SGCB 0.08250878006219864 +2911 3745 KCNB1 0.08246088027954102 +2912 2879 GPX4 0.08245465159416199 +2913 93233 ODAD1 0.08241010457277298 +2914 1675 CFD 0.08235656470060349 +2915 3588 IL10RB 0.08233930915594101 +2916 5663 PSEN1 0.08232445269823074 +2917 84231 TRAF7 0.08231863379478455 +2918 9990 SLC12A6 0.08231291174888611 +2919 51053 GMNN 0.08230486512184143 +2920 5932 RBBP8 0.08228857070207596 +2921 83449 PMFBP1 0.08226723968982697 +2922 55617 TASP1 0.08226628601551056 +2923 24145 PANX1 0.08226469904184341 +2924 3868 KRT16 0.08220624923706055 +2925 2067 ERCC1 0.08220580220222473 +2926 4750 NEK1 0.08218101412057877 +2927 8547 FCN3 0.08217742294073105 +2928 5591 PRKDC 0.08210041373968124 +2929 3293 HSD17B3 0.0820900946855545 +2930 10755 GIPC1 0.08208488672971725 +2931 22934 RPIA 0.08207058161497116 +2932 732 C8B 0.08201796561479568 +2933 1836 SLC26A2 0.08198685199022293 +2934 1859 DYRK1A 0.0819588378071785 +2935 284654 RSPO1 0.08192960917949677 +2936 3785 KCNQ2 0.08188161998987198 +2937 89910 UBE3B 0.08182723075151443 +2938 131405 TRIM71 0.08180464804172516 +2939 71 ACTG1 0.08177906274795532 +2940 163786 SASS6 0.08176929503679276 +2941 9627 SNCAIP 0.08176170289516449 +2942 23013 SPEN 0.08172573894262314 +2943 55157 DARS2 0.08171719312667847 +2944 1407 CRY1 0.08169766515493393 +2945 8914 TIMELESS 0.08169347792863846 +2946 153 ADRB1 0.08169347792863846 +2947 84197 POMK 0.08161889761686325 +2948 1363 CPE 0.08158701658248901 +2949 23385 NCSTN 0.08158013224601746 +2950 9750 RIPOR2 0.0815642774105072 +2951 1816 DRD5 0.08152664452791214 +2952 7248 TSC1 0.08152598887681961 +2953 137392 CIBAR1 0.08147622644901276 +2954 7249 TSC2 0.0814598873257637 +2955 7074 TIAM1 0.08145485073328018 +2956 1288 COL4A6 0.0813726857304573 +2957 3198 HOXA1 0.08133836835622787 +2958 3574 IL7 0.08132535219192505 +2959 79912 PYROXD1 0.08131318539381027 +2960 25930 PTPN23 0.08128932118415833 +2961 23511 NUP188 0.0812874510884285 +2962 23345 SYNE1 0.08126017451286316 +2963 255758 DYNLT2B 0.08123273402452469 +2964 8382 NME5 0.0811990350484848 +2965 51780 KDM3B 0.08113595098257065 +2966 2348 FOLR1 0.08112838119268417 +2967 7737 RNF113A 0.08112567663192749 +2968 5885 RAD21 0.08111865073442459 +2969 4539 MT-ND4L 0.08109796792268753 +2970 2660 MSTN 0.0810437873005867 +2971 8738 CRADD 0.08103016018867493 +2972 8911 CACNA1I 0.08102863281965256 +2973 58 ACTA1 0.08099658787250519 +2974 729 C6 0.08099383860826492 +2975 55262 TRAPPC14 0.08098385483026505 +2976 113179 ADAT3 0.0809774324297905 +2977 6601 SMARCC2 0.08096057921648026 +2978 54970 TTC12 0.08092934638261795 +2979 2257 FGF12 0.08092880994081497 +2980 4897 NRCAM 0.08091527223587036 +2981 9851 KIAA0753 0.08087082207202911 +2982 2702 GJA5 0.08086942136287689 +2983 55172 DNAAF2 0.08086733520030975 +2984 3501 IGHG2 0.08082254230976105 +2985 80320 SP6 0.08081714808940887 +2986 23116 TOGARAM1 0.08081597089767456 +2987 54829 ASPN 0.08078190684318542 +2988 4010 LMX1B 0.08077141642570496 +2989 2744 GLS 0.0807700827717781 +2990 29072 SETD2 0.08075466006994247 +2991 4318 MMP9 0.08075449615716934 +2992 51776 MAP3K20 0.08074656128883362 +2993 5631 PRPS1 0.0807168111205101 +2994 8085 KMT2D 0.08069676160812378 +2995 4915 NTRK2 0.08069457113742828 +2996 3955 LFNG 0.08060428500175476 +2997 3054 HCFC1 0.0805993527173996 +2998 8898 MTMR2 0.08058813214302063 +2999 3199 HOXA2 0.08056455850601196 +3000 129285 PPP1R21 0.08055504411458969 +3001 55773 TBC1D23 0.08055280894041061 +3002 1636 ACE 0.08054090291261673 +3003 157922 CAMSAP1 0.08052582293748856 +3004 23162 MAPK8IP3 0.0805148109793663 +3005 6328 SCN3A 0.08049609512090683 +3006 11128 POLR3A 0.0804741159081459 +3007 22859 ADGRL1 0.08046337217092514 +3008 4190 MDH1 0.0804612785577774 +3009 51163 DBR1 0.08034002035856247 +3010 2972 BRF1 0.08033080399036407 +3011 1259 CNGA1 0.0802847146987915 +3012 23097 CDK19 0.08021951466798782 +3013 6496 SIX3 0.08019530028104782 +3014 91801 ALKBH8 0.08016624301671982 +3015 246329 STAC3 0.08015886694192886 +3016 2752 GLUL 0.08006807416677475 +3017 134701 RIPPLY2 0.08005428314208984 +3018 79776 ZFHX4 0.08005321770906448 +3019 23558 WBP2 0.08005187660455704 +3020 5459 POU4F3 0.08005187660455704 +3021 64787 EPS8L2 0.08005187660455704 +3022 23424 TDRD7 0.08004570007324219 +3023 4009 LMX1A 0.08004492521286011 +3024 5269 SERPINB6 0.08004492521286011 +3025 154288 KHDC3L 0.08004430681467056 +3026 131669 UROC1 0.08004368841648102 +3027 407 ARR3 0.08004219830036163 +3028 9455 HOMER2 0.08003860712051392 +3029 2549 GAB1 0.08003860712051392 +3030 10750 GRAP 0.08003860712051392 +3031 494513 PJVK 0.08003860712051392 +3032 146183 OTOA 0.08003860712051392 +3033 90665 TBL1Y 0.08003860712051392 +3034 124976 SPNS2 0.08003860712051392 +3035 375611 SLC26A5 0.08003860712051392 +3036 2700 GJA3 0.08003847301006317 +3037 3621 ING1 0.08003411442041397 +3038 8795 TNFRSF10B 0.08003411442041397 +3039 2651 GCNT2 0.0800318717956543 +3040 23094 SIPA1L3 0.0800318717956543 +3041 23581 CASP14 0.08003094047307968 +3042 1687 GSDME 0.08002733439207077 +3043 107 ADCY1 0.08002624660730362 +3044 3082 HGF 0.08002624660730362 +3045 79669 C3orf52 0.08002594858407974 +3046 79816 TLE6 0.08002568036317825 +3047 4486 MST1R 0.0800161138176918 +3048 144568 A2ML1 0.080006904900074 +3049 308 ANXA5 0.07999999821186066 +3050 79600 TCTN1 0.07999444007873535 +3051 7546 ZIC2 0.0799870416522026 +3052 9927 MFN2 0.07997782528400421 +3053 353116 RILPL1 0.07994866371154785 +3054 84148 KAT8 0.07994101196527481 +3055 55182 RNF220 0.07992108166217804 +3056 112817 HOGA1 0.07991741597652435 +3057 3665 IRF7 0.07986393570899963 +3058 3655 ITGA6 0.07985609024763107 +3059 54332 GDAP1 0.07985257357358932 +3060 259232 NALCN 0.0798497274518013 +3061 127833 SYT2 0.07982119917869568 +3062 523 ATP6V1A 0.07979074865579605 +3063 1584 CYP11B1 0.07978896051645279 +3064 2692 GHRHR 0.07978110015392303 +3065 9533 POLR1C 0.07977920025587082 +3066 246176 GAS2L2 0.07977515459060669 +3067 9464 HAND2 0.07976403832435608 +3068 7112 TMPO 0.07976403832435608 +3069 2274 FHL2 0.07976403832435608 +3070 9015 TAF1A 0.07976403832435608 +3071 27063 ANKRD1 0.07976403832435608 +3072 10486 CAP2 0.07976403832435608 +3073 2137 EXTL3 0.07975640892982483 +3074 351 APP 0.07974027842283249 +3075 79625 NDNF 0.07973264157772064 +3076 93649 MYOCD 0.07973221689462662 +3077 2643 GCH1 0.07972141355276108 +3078 140732 SUN5 0.07969638705253601 +3079 284111 SLC13A5 0.07966461032629013 +3080 84314 TMEM107 0.07964715361595154 +3081 51339 DACT1 0.07962974905967712 +3082 25978 CHMP2B 0.07961060106754303 +3083 3000 GUCY2D 0.0795961394906044 +3084 23594 ORC6 0.07957673817873001 +3085 4604 MYBPC1 0.07952581346035004 +3086 8884 SLC5A6 0.0795254111289978 +3087 1144 CHRND 0.07952341437339783 +3088 3073 HEXA 0.07952161133289337 +3089 5309 PITX3 0.07951495796442032 +3090 338567 KCNK18 0.07951361685991287 +3091 6599 SMARCC1 0.07950638979673386 +3092 3791 KDR 0.07950165122747421 +3093 57338 JPH3 0.0794125646352768 +3094 79925 SPEF2 0.07940952479839325 +3095 490 ATP2B1 0.07940343022346497 +3096 64412 GZF1 0.0793960690498352 +3097 2622 GAS8 0.07937829196453094 +3098 730 C7 0.07936784625053406 +3099 5331 PLCB3 0.07934694737195969 +3100 9080 CLDN9 0.0793454498052597 +3101 8120 AP3B2 0.07933185994625092 +3102 55521 TRIM36 0.07931587100028992 +3103 8481 OFD1 0.07931097596883774 +3104 8863 PER3 0.07927608489990234 +3105 84909 AOPEP 0.07927366346120834 +3106 51227 PIGP 0.07927174866199493 +3107 1815 DRD4 0.07927076518535614 +3108 8726 EED 0.07923980802297592 +3109 26281 FGF20 0.07923655956983566 +3110 288 ANK3 0.07920512557029724 +3111 402381 SOHLH1 0.07918740063905716 +3112 10210 TOPORS 0.07916434854269028 +3113 2131 EXT1 0.07914329320192337 +3114 131377 KLHL40 0.07913938164710999 +3115 152816 ODAPH 0.07911408692598343 +3116 6342 SCP2 0.07907166332006454 +3117 256764 WDR72 0.0790480300784111 +3118 81034 SLC25A32 0.07903817296028137 +3119 55130 ODAD2 0.07903530448675156 +3120 10300 KATNB1 0.07902968674898148 +3121 1013 CDH15 0.07900989800691605 +3122 1414 CRYBB1 0.07900410890579224 +3123 9915 ARNT2 0.07895777374505997 +3124 51343 FZR1 0.0789567157626152 +3125 55154 MSTO1 0.07895185053348541 +3126 80199 FUZ 0.07892678678035736 +3127 8936 WASF1 0.078921377658844 +3128 91452 ACBD5 0.07889560610055923 +3129 1146 CHRNG 0.07887434959411621 +3130 4784 NFIX 0.07883661240339279 +3131 29920 PYCR2 0.07880232483148575 +3132 10309 CCNO 0.0787741094827652 +3133 3796 KIF2A 0.07873684912919998 +3134 4848 CNOT2 0.07871381938457489 +3135 1906 EDN1 0.0786953866481781 +3136 150094 SIK1 0.07868973165750504 +3137 2239 GPC4 0.07861965894699097 +3138 4359 MPZ 0.07860954850912094 +3139 84667 HES7 0.07860595732927322 +3140 5744 PTHLH 0.0785939022898674 +3141 5959 RDH5 0.07858019322156906 +3142 340024 SLC6A19 0.0785793662071228 +3143 10324 KLHL41 0.07857462763786316 +3144 388389 CCDC103 0.078553706407547 +3145 79784 MYH14 0.07848750054836273 +3146 10743 RAI1 0.07847105711698532 +3147 3714 JAG2 0.07844995707273483 +3148 81839 VANGL1 0.07843955606222153 +3149 51704 GPRC5B 0.0783858597278595 +3150 6660 SOX5 0.07837334275245667 +3151 3782 KCNN3 0.07835802435874939 +3152 7991 TUSC3 0.0783410593867302 +3153 200576 PIKFYVE 0.07833313196897507 +3154 4488 MSX2 0.07831916958093643 +3155 23126 POGZ 0.07830539345741272 +3156 275 AMT 0.07829858362674713 +3157 726 CAPN5 0.07828141003847122 +3158 6885 MAP3K7 0.07826142013072968 +3159 27327 TNRC6A 0.07824579626321793 +3160 6949 TCOF1 0.07818662375211716 +3161 3728 JUP 0.07815053313970566 +3162 1508 CTSB 0.07814338803291321 +3163 2673 GFPT1 0.07811341434717178 +3164 23328 SASH1 0.07810637354850769 +3165 1767 DNAH5 0.07809215784072876 +3166 3265 HRAS 0.07808759808540344 +3167 2073 ERCC5 0.07806137204170227 +3168 57679 ALS2 0.07801341265439987 +3169 50515 CHST11 0.07800357043743134 +3170 5587 PRKD1 0.07799957692623138 +3171 27148 STK36 0.0779966413974762 +3172 374407 DNAJB13 0.07797858864068985 +3173 1770 DNAH9 0.0779666155576706 +3174 8111 GPR68 0.07796474546194077 +3175 2314 FLII 0.07796360552310944 +3176 401138 AMTN 0.07796268165111542 +3177 58497 PRUNE1 0.07795708626508713 +3178 3612 IMPA1 0.07795632630586624 +3179 28960 DCPS 0.07794202864170074 +3180 285025 CCDC141 0.07792963832616806 +3181 84282 RNF135 0.0778917670249939 +3182 471 ATIC 0.07788916677236557 +3183 712 C1QA 0.07788411527872086 +3184 79709 COLGALT1 0.07782153785228729 +3185 4001 LMNB1 0.07782122492790222 +3186 10282 BET1 0.07778286188840866 +3187 6898 TAT 0.07777752727270126 +3188 23524 SRRM2 0.07776543498039246 +3189 51314 NME8 0.07774091511964798 +3190 5148 PDE6G 0.077704057097435 +3191 65250 CPLANE1 0.07770375162363052 +3192 7049 TGFBR3 0.07769215852022171 +3193 83854 ANGPTL6 0.07769215852022171 +3194 6873 TAF2 0.07769056409597397 +3195 89765 RSPH1 0.07767917960882187 +3196 55870 ASH1L 0.07767238467931747 +3197 284058 KANSL1 0.07766613364219666 +3198 6094 ROM1 0.077653668820858 +3199 5949 RBP3 0.07765322923660278 +3200 9147 NEMF 0.07765056937932968 +3201 10382 TUBB4A 0.07764049619436264 +3202 79977 GRHL2 0.07761643081903458 +3203 8864 PER2 0.07760526239871979 +3204 2674 GFRA1 0.07758697122335434 +3205 64919 BCL11B 0.07756458222866058 +3206 2317 FLNB 0.07753822207450867 +3207 4913 NTHL1 0.07753810286521912 +3208 115399 LRRC56 0.07751452177762985 +3209 57502 NLGN4X 0.07748489081859589 +3210 56203 LMOD3 0.07747719436883926 +3211 9573 GDF3 0.07740285992622375 +3212 9516 LITAF 0.07738657295703888 +3213 9256 TSPOAP1 0.07738637179136276 +3214 9693 RAPGEF2 0.0773782879114151 +3215 5879 RAC1 0.07737741619348526 +3216 440193 CCDC88C 0.0773615837097168 +3217 8729 GBF1 0.07731179893016815 +3218 1302 COL11A2 0.07729370146989822 +3219 274 BIN1 0.07728591561317444 +3220 151516 ASPRV1 0.07728227227926254 +3221 9839 ZEB2 0.07728055864572525 +3222 1605 DAG1 0.07727540284395218 +3223 3756 KCNH1 0.07720699161291122 +3224 55650 PIGV 0.07718824595212936 +3225 27072 VPS41 0.07718460261821747 +3226 54820 NDE1 0.07718116044998169 +3227 79042 TSEN34 0.07715938240289688 +3228 6709 SPTAN1 0.0771380215883255 +3229 7517 XRCC3 0.0771319717168808 +3230 4835 NQO2 0.0771319717168808 +3231 5245 PHB1 0.0771319717168808 +3232 9821 RB1CC1 0.0771319717168808 +3233 3161 HMMR 0.0771319717168808 +3234 85016 CFAP300 0.0771256759762764 +3235 79944 L2HGDH 0.07712198048830032 +3236 5297 PI4KA 0.07711814343929291 +3237 4601 MXI1 0.07711778581142426 +3238 1337 COX6A1 0.07711738348007202 +3239 345643 MCIDAS 0.07708359509706497 +3240 64446 DNAI2 0.07708249986171722 +3241 4621 MYH3 0.07707685977220535 +3242 25914 RTTN 0.07706866413354874 +3243 27341 RRP7A 0.07706058770418167 +3244 1641 DCX 0.07705967873334885 +3245 23259 DDHD2 0.07702083140611649 +3246 1409 CRYAA 0.07699836790561676 +3247 6299 SALL1 0.07699264585971832 +3248 353238 PADI6 0.07699020206928253 +3249 27032 ATP2C1 0.07698117196559906 +3250 735 C9 0.07697691023349762 +3251 259236 TMIE 0.07697604596614838 +3252 9885 OSBPL2 0.07697580754756927 +3253 124842 TMEM132E 0.07697369158267975 +3254 5357 PLS1 0.07697369158267975 +3255 645104 CLRN2 0.07697369158267975 +3256 1428 CRYM 0.07697369158267975 +3257 246213 SLC17A8 0.07697369158267975 +3258 23262 PPIP5K2 0.07697369158267975 +3259 51475 CABP2 0.07697296142578125 +3260 284656 EPHA10 0.07697296142578125 +3261 79966 SCD5 0.07697255909442902 +3262 201973 PRIMPOL 0.07697129249572754 +3263 23209 MLC1 0.07697121053934097 +3264 8989 TRPA1 0.07697072625160217 +3265 2250 FGF5 0.07696865499019623 +3266 53904 MYO3A 0.0769679918885231 +3267 29914 UBIAD1 0.07696763426065445 +3268 79703 TOP6BL 0.07696724683046341 +3269 2059 EPS8 0.07696627825498581 +3270 29894 CPSF1 0.07696624100208282 +3271 4007 PRICKLE3 0.07696489244699478 +3272 123872 DNAAF1 0.07696483284235 +3273 84146 ZNF644 0.07696365565061569 +3274 283375 SLC39A5 0.07696365565061569 +3275 55814 BDP1 0.07696019858121872 +3276 100127206 MINAR2 0.07696019858121872 +3277 1830 DSG3 0.07696019858121872 +3278 9294 S1PR2 0.07696019858121872 +3279 6092 ROBO2 0.07695537060499191 +3280 284382 ACTL9 0.07695003598928452 +3281 7783 ZP2 0.07694899290800095 +3282 89869 PLCZ1 0.07694883644580841 +3283 49 ACR 0.07694883644580841 +3284 153562 MARVELD2 0.07694831490516663 +3285 126206 NLRP5 0.07694777101278305 +3286 51168 MYO15A 0.07694777101278305 +3287 7784 ZP3 0.07694777101278305 +3288 5962 RDX 0.07694777101278305 +3289 55655 NLRP2 0.07694777101278305 +3290 431705 ASTL 0.07694777101278305 +3291 11078 TRIOBP 0.07694726437330246 +3292 51259 TMEM216 0.07694438844919205 +3293 6041 RNASEL 0.07693473994731903 +3294 345895 RSPH4A 0.07692109048366547 +3295 56896 DPYSL5 0.07691442966461182 +3296 7169 TPM2 0.07689804583787918 +3297 55969 RAB5IF 0.0768873393535614 +3298 285600 KIAA0825 0.07686349004507065 +3299 774 CACNA1B 0.07686183601617813 +3300 27022 FOXD3 0.0768480971455574 +3301 121512 FGD4 0.07682173699140549 +3302 79797 ZNF408 0.07674040645360947 +3303 26057 ANKRD17 0.07673309743404388 +3304 2312 FLG 0.07672861963510513 +3305 5111 PCNA 0.07671693712472916 +3306 286077 FAM83H 0.07668580114841461 +3307 55681 SCYL2 0.07664791494607925 +3308 55366 LGR4 0.0766279399394989 +3309 55187 VPS13D 0.07659323513507843 +3310 23396 PIP5K1C 0.07658635824918747 +3311 221421 RSPH9 0.07658340781927109 +3312 815 CAMK2A 0.07654157280921936 +3313 1967 EIF2B1 0.07653994858264923 +3314 6506 SLC1A2 0.0765186995267868 +3315 51199 NIN 0.07651564478874207 +3316 2782 GNB1 0.07649055123329163 +3317 1540 CYLD 0.07646376639604568 +3318 9380 GRHPR 0.07643704116344452 +3319 81607 NECTIN4 0.07640928775072098 +3320 9739 SETD1A 0.07640264928340912 +3321 51574 LARP7 0.0763852596282959 +3322 3454 IFNAR1 0.07633214443922043 +3323 10369 CACNG2 0.07630264014005661 +3324 5732 PTGER2 0.07626620680093765 +3325 7528 YY1 0.07623014599084854 +3326 80153 EDC3 0.07619959115982056 +3327 60 ACTB 0.07616990059614182 +3328 6638 SNRPN 0.07614962011575699 +3329 7097 TLR2 0.0761447548866272 +3330 8516 ITGA8 0.07612881064414978 +3331 79751 SLC25A22 0.07612545043230057 +3332 57165 GJC2 0.0761052593588829 +3333 6674 SPAG1 0.07609359174966812 +3334 85478 CCDC65 0.07609301060438156 +3335 23639 DNAAF11 0.07609186321496964 +3336 85452 CFAP74 0.07609166204929352 +3337 7552 ZNF711 0.07607434689998627 +3338 9757 KMT2B 0.07607222348451614 +3339 27019 DNAI1 0.07605578005313873 +3340 7862 BRPF1 0.07604704052209854 +3341 23288 IQCE 0.07602154463529587 +3342 23321 TRIM2 0.07599541544914246 +3343 145226 RDH12 0.07595670968294144 +3344 29899 GPSM2 0.0759502500295639 +3345 9126 SMC3 0.07593649625778198 +3346 255928 SYT14 0.07590654492378235 +3347 8622 PDE8B 0.0758739784359932 +3348 894 CCND2 0.07584857195615768 +3349 9563 H6PD 0.075840063393116 +3350 5147 PDE6D 0.07582706958055496 +3351 7109 TRAPPC10 0.07580350339412689 +3352 93986 FOXP2 0.0757981464266777 +3353 2010 EMD 0.07578091323375702 +3354 286262 TPRN 0.07576826214790344 +3355 10194 TSHZ1 0.07575778663158417 +3356 22943 DKK1 0.07575493305921555 +3357 83861 RSPH3 0.07574661821126938 +3358 1303 COL12A1 0.07573617249727249 +3359 5296 PIK3R2 0.07573474198579788 +3360 9894 TELO2 0.07571184635162354 +3361 27445 PCLO 0.07569290697574615 +3362 3661 IRF3 0.0756743773818016 +3363 55243 KIRREL1 0.07567134499549866 +3364 352909 DNAAF3 0.075667604804039 +3365 3549 IHH 0.07566361129283905 +3366 375387 NRROS 0.07562030851840973 +3367 29998 BICRA 0.07559297978878021 +3368 6926 TBX3 0.07557833194732666 +3369 1654 DDX3X 0.07554227858781815 +3370 378884 NHLRC1 0.07552960515022278 +3371 269 AMHR2 0.07552453130483627 +3372 268 AMH 0.07552453130483627 +3373 6628 SNRPB 0.0755230039358139 +3374 1063 CENPF 0.0755033865571022 +3375 55790 CSGALNACT1 0.07548690587282181 +3376 1630 DCC 0.07545766234397888 +3377 11190 CEP250 0.07544609159231186 +3378 3850 KRT3 0.07544361054897308 +3379 9158 FIBP 0.0754350870847702 +3380 51002 TPRKB 0.07540163397789001 +3381 6597 SMARCA4 0.07535617053508759 +3382 59345 GNB4 0.07535175234079361 +3383 26053 AUTS2 0.07531967014074326 +3384 1759 DNM1 0.07531468570232391 +3385 1643 DDB2 0.0752754732966423 +3386 9313 MMP20 0.0751841738820076 +3387 25981 DNAH1 0.07514835894107819 +3388 112858 TP53RK 0.0751338079571724 +3389 6942 TCF20 0.07512439787387848 +3390 8379 MAD1L1 0.07511284202337265 +3391 55755 CDK5RAP2 0.07510519027709961 +3392 55036 CCDC40 0.07509541511535645 +3393 10861 SLC26A1 0.07507987320423126 +3394 120 ADD3 0.0750562846660614 +3395 6790 AURKA 0.07504407316446304 +3396 5320 PLA2G2A 0.07504407316446304 +3397 5782 PTPN12 0.07504407316446304 +3398 4163 MCC 0.07504407316446304 +3399 10395 DLC1 0.07504407316446304 +3400 121278 TPH2 0.07499580830335617 +3401 84957 RELT 0.07498668134212494 +3402 94137 RP1L1 0.07497893273830414 +3403 545 ATR 0.07496581226587296 +3404 4617 MYF5 0.07494679093360901 +3405 1203 CLN5 0.07494576275348663 +3406 5913 RAPSN 0.07493763417005539 +3407 1041 CDSN 0.0749259814620018 +3408 79853 TM4SF20 0.07491100579500198 +3409 2625 GATA3 0.07488757371902466 +3410 6101 RP1 0.07488580793142319 +3411 6608 SMO 0.07487616688013077 +3412 65018 PINK1 0.07486777752637863 +3413 6620 SNCB 0.07483239471912384 +3414 79876 UBA5 0.07482174783945084 +3415 64849 SLC13A3 0.07471390068531036 +3416 284098 PIGW 0.07468150556087494 +3417 28981 IFT81 0.07467986643314362 +3418 8449 DHX16 0.07466370612382889 +3419 10002 NR2E3 0.07466338574886322 +3420 55074 OXR1 0.0746585875749588 +3421 6347 CCL2 0.07462084293365479 +3422 219854 TMEM218 0.07460480183362961 +3423 221927 BRAT1 0.07459905743598938 +3424 3945 LDHB 0.07455503195524216 +3425 8701 DNAH11 0.07453952729701996 +3426 100128927 ZBTB42 0.07451785355806351 +3427 6904 TBCD 0.07449838519096375 +3428 1140 CHRNB1 0.07448860257863998 +3429 79755 ZNF750 0.07447216659784317 +3430 2896 GRN 0.07444413751363754 +3431 5546 PRCC 0.07444249093532562 +3432 109580095 - 0.07443328201770782 +3433 5396 PRRX1 0.07442720234394073 +3434 54676 GTPBP2 0.07440268248319626 +3435 9895 TECPR2 0.07439432293176651 +3436 4166 CHST6 0.07439325004816055 +3437 8139 GAN 0.07439210265874863 +3438 22871 NLGN1 0.07438666373491287 +3439 79581 SLC52A2 0.07437454164028168 +3440 10290 SPEG 0.07436414808034897 +3441 1134 CHRNA1 0.07432930916547775 +3442 56776 FMN2 0.07427403330802917 +3443 284217 LAMA1 0.07426344603300095 +3444 1182 CLCN3 0.07424996048212051 +3445 57096 RPGRIP1 0.07424735277891159 +3446 643418 LIPN 0.07420189678668976 +3447 10082 GPC6 0.07418591529130936 +3448 10940 POP1 0.07418356835842133 +3449 55023 PHIP 0.07416319102048874 +3450 5322 PLA2G5 0.07413334399461746 +3451 125336 LOXHD1 0.07412847876548767 +3452 8419 BFSP2 0.07412820309400558 +3453 389207 GRXCR1 0.07412788271903992 +3454 9132 KCNQ4 0.07412654906511307 +3455 222662 LHFPL5 0.07412505894899368 +3456 23562 CLDN14 0.07412485033273697 +3457 253827 MSRB3 0.07412444055080414 +3458 5137 PDE1C 0.07412281632423401 +3459 3982 LIM2 0.07412223517894745 +3460 474 ATOH1 0.0741221085190773 +3461 150365 MEI1 0.07411660999059677 +3462 199713 NLRP7 0.0741150975227356 +3463 23438 HARS2 0.0741126537322998 +3464 283310 OTOGL 0.0741124153137207 +3465 64699 TMPRSS3 0.07410982251167297 +3466 286676 ILDR1 0.07410982251167297 +3467 54845 ESRP1 0.07410840690135956 +3468 1453 CSNK1D 0.07410755008459091 +3469 3640 INSL3 0.07410739362239838 +3470 64388 GREM2 0.07410693168640137 +3471 128866 CHMP4B 0.0741056352853775 +3472 84662 GLIS2 0.07410519570112228 +3473 402569 KPNA7 0.07410489022731781 +3474 4342 MOS 0.07410489022731781 +3475 79443 FYCO1 0.07410190999507904 +3476 83893 SPATA16 0.07410117983818054 +3477 678 ZFP36L2 0.07410112768411636 +3478 8284 KDM5D 0.07410042732954025 +3479 442862 PRY2 0.07410042732954025 +3480 9082 XKRY 0.07410042732954025 +3481 9426 CDY2A 0.07410042732954025 +3482 9085 CDY1 0.07410042732954025 +3483 9084 VCY 0.07410042732954025 +3484 86614 HSFY1 0.07410042732954025 +3485 9083 BPY2 0.07410042732954025 +3486 9081 PRY 0.07410042732954025 +3487 140032 RPS4Y2 0.07410042732954025 +3488 116369 SLC26A8 0.07410012185573578 +3489 283417 DPY19L2 0.07410003244876862 +3490 84660 CCDC62 0.07410003244876862 +3491 11055 ZPBP 0.07410003244876862 +3492 80705 TSGA10 0.07410003244876862 +3493 199720 GGN 0.07410003244876862 +3494 10205 MPZL2 0.07409938424825668 +3495 22917 ZP1 0.07409902662038803 +3496 991 CDC20 0.07409890741109848 +3497 10273 STUB1 0.07407337427139282 +3498 6853 SYN1 0.07406197488307953 +3499 7453 WARS1 0.07404778897762299 +3500 403 ARL3 0.07404641062021255 +3501 23036 ZNF292 0.07403864711523056 +3502 5422 POLA1 0.07400278747081757 +3503 348980 HCN1 0.07399898022413254 +3504 2290 FOXG1 0.07399828732013702 +3505 7360 UGP2 0.07397843152284622 +3506 54919 DNAAF5 0.07393909245729446 +3507 7337 UBE3A 0.07391690462827682 +3508 9354 UBE4A 0.07391215860843658 +3509 79639 TMEM53 0.0738983079791069 +3510 115948 ODAD3 0.0738941952586174 +3511 65062 TMEM237 0.07389260828495026 +3512 2516 NR5A1 0.0738532543182373 +3513 54832 VPS13C 0.07384248077869415 +3514 79867 TCTN2 0.07377234101295471 +3515 55131 RBM28 0.07374285161495209 +3516 1073 CFL2 0.07371355593204498 +3517 1742 DLG4 0.07370809465646744 +3518 54112 GPR88 0.07370398938655853 +3519 153241 CEP120 0.0737006813287735 +3520 1213 CLTC 0.073700450360775 +3521 2902 GRIN1 0.07368426769971848 +3522 4919 ROR1 0.07367925345897675 +3523 84720 PIGO 0.07366866618394852 +3524 258 AMBN 0.07366862893104553 +3525 27199 OXGR1 0.07365778088569641 +3526 6997 CRIPTO 0.07364297658205032 +3527 8928 FOXH1 0.07364297658205032 +3528 84976 DISP1 0.07364297658205032 +3529 2619 GAS1 0.07364297658205032 +3530 6532 SLC6A4 0.07361666858196259 +3531 6622 SNCA 0.07360678911209106 +3532 5290 PIK3CA 0.07357609272003174 +3533 26353 HSPB8 0.07356065511703491 +3534 51322 WAC 0.07355453819036484 +3535 55148 UBR7 0.0735437199473381 +3536 5332 PLCB4 0.07351706176996231 +3537 610 HCN2 0.07346482574939728 +3538 7473 WNT3 0.07346107810735703 +3539 4761 NEUROD2 0.07345225661993027 +3540 51308 REEP2 0.0734502300620079 +3541 27077 B9D1 0.07343707978725433 +3542 6607 SMN2 0.07343024015426636 +3543 10000 AKT3 0.07342474162578583 +3544 6304 SATB1 0.07341638952493668 +3545 2033 EP300 0.07338663190603256 +3546 8192 CLPP 0.0733332633972168 +3547 9907 AP5Z1 0.07332303375005722 +3548 10735 STAG2 0.07331623882055283 +3549 5518 PPP2R1A 0.07329174876213074 +3550 55656 INTS8 0.07328605651855469 +3551 56683 CFAP298 0.0732770711183548 +3552 8893 EIF2B5 0.07319434732198715 +3553 122553 TRAPPC6B 0.07316278666257858 +3554 6567 SLC16A2 0.07315361499786377 +3555 4437 MSH3 0.0731530636548996 +3556 3747 KCNC2 0.07313893735408783 +3557 340990 OTOG 0.07306315004825592 +3558 2009 EML1 0.07306072860956192 +3559 3373 HYAL1 0.07302889227867126 +3560 392255 GDF6 0.07288321107625961 +3561 92749 DRC1 0.07285000383853912 +3562 55770 EXOC2 0.07284491509199142 +3563 84520 GON7 0.07283320277929306 +3564 8398 PLA2G6 0.07280632108449936 +3565 4654 MYOD1 0.07279618084430695 +3566 6469 SHH 0.07277919352054596 +3567 259266 ASPM 0.0727587640285492 +3568 324 APC 0.07275454699993134 +3569 28982 FLVCR1 0.07273543626070023 +3570 80208 SPG11 0.07271696627140045 +3571 118924 FRA10AC1 0.07270675152540207 +3572 59335 PRDM12 0.07268980890512466 +3573 85358 SHANK3 0.07268908619880676 +3574 1075 CTSC 0.07268613576889038 +3575 54768 HYDIN 0.07267475873231888 +3576 3778 KCNMA1 0.07259779423475266 +3577 1000 CDH2 0.07258013635873795 +3578 4953 ODC1 0.07253866642713547 +3579 9524 TECR 0.07252221554517746 +3580 10891 PPARGC1A 0.0724942609667778 +3581 23025 UNC13A 0.0724942609667778 +3582 2043 EPHA4 0.0724942609667778 +3583 1610 DAO 0.0724942609667778 +3584 5446 PON3 0.0724942609667778 +3585 55830 GLT8D1 0.0724942609667778 +3586 5445 PON2 0.0724942609667778 +3587 5444 PON1 0.0724942609667778 +3588 51434 ANAPC7 0.07248535007238388 +3589 29957 SLC25A24 0.072470523416996 +3590 51741 WWOX 0.07245291024446487 +3591 83696 TRAPPC9 0.07239674776792526 +3592 27184 DISC2 0.07239372283220291 +3593 80832 APOL4 0.07239372283220291 +3594 23780 APOL2 0.07239372283220291 +3595 1116 CHI3L1 0.07239372283220291 +3596 65078 RTN4R 0.07239372283220291 +3597 267012 DAOA 0.07239372283220291 +3598 6854 SYN2 0.07239372283220291 +3599 3798 KIF5A 0.07238644361495972 +3600 10472 ZBTB18 0.07235322892665863 +3601 9381 OTOF 0.07234609127044678 +3602 57082 KNL1 0.07233613729476929 +3603 7515 XRCC1 0.07233336567878723 +3604 9969 MED13 0.07227268069982529 +3605 51091 SEPSECS 0.07227081805467606 +3606 2775 GNAO1 0.07223059237003326 +3607 342035 GLDN 0.0722261592745781 +3608 55784 MCTP2 0.07217101007699966 +3609 477 ATP1A2 0.07213816791772842 +3610 23499 MACF1 0.07209333032369614 +3611 9949 AMMECR1 0.07209200412034988 +3612 1108 CHD4 0.07205530256032944 +3613 10280 SIGMAR1 0.07204526662826538 +3614 8558 CDK10 0.07204469293355942 +3615 84896 ATAD1 0.07203584909439087 +3616 362 AQP5 0.07202557474374771 +3617 10533 ATG7 0.07201968133449554 +3618 2743 GLRB 0.07201200723648071 +3619 9442 MED27 0.0720083937048912 +3620 83872 HMCN1 0.072004035115242 +3621 2661 GDF9 0.07199764251708984 +3622 54496 PRMT7 0.0719783678650856 +3623 7508 XPC 0.07196875661611557 +3624 2911 GRM1 0.07194758951663971 +3625 114798 SLITRK1 0.07192704826593399 +3626 84839 RAX2 0.0719064250588417 +3627 1387 CREBBP 0.07189739495515823 +3628 8148 TAF15 0.07185997068881989 +3629 64857 PLEKHG2 0.07185734063386917 +3630 11315 PARK7 0.07182323932647705 +3631 91461 PKDCC 0.07180164754390717 +3632 23516 SLC39A14 0.07175401598215103 +3633 29967 LRP12 0.0717478096485138 +3634 7222 TRPC3 0.0717402994632721 +3635 4854 NOTCH3 0.07172175496816635 +3636 6716 SRD5A2 0.07171087712049484 +3637 51305 KCNK9 0.07168696075677872 +3638 715 C1R 0.07168550044298172 +3639 146057 TTBK2 0.07165570557117462 +3640 54982 CLN6 0.07165313512086868 +3641 26123 TCTN3 0.07164876908063889 +3642 8291 DYSF 0.07163934409618378 +3643 4978 OPCML 0.07162366807460785 +3644 5519 PPP2R1B 0.07161885499954224 +3645 1326 MAP3K8 0.07161885499954224 +3646 57522 SRGAP1 0.0716158002614975 +3647 23043 TNIK 0.07159779965877533 +3648 5538 PPT1 0.07157521694898605 +3649 80331 DNAJC5 0.07151006907224655 +3650 2103 ESRRB 0.07150939851999283 +3651 57007 ACKR3 0.07149916142225266 +3652 152137 CCDC50 0.07149535417556763 +3653 57609 DIP2B 0.07149092853069305 +3654 4043 LRPAP1 0.07148783653974533 +3655 25953 PNKD 0.07148728519678116 +3656 4327 MMP19 0.07148725539445877 +3657 643226 GRXCR2 0.07148493826389313 +3658 407053 MIR96 0.07148247957229614 +3659 1969 EPHA2 0.07148183882236481 +3660 4363 ABCC1 0.071480393409729 +3661 6657 SOX2 0.0714801698923111 +3662 7003 TEAD1 0.07147888094186783 +3663 220074 LRTOMT 0.07147883623838425 +3664 136371 ASB10 0.07147831469774246 +3665 80736 SLC44A4 0.07147753238677979 +3666 53405 CLIC5 0.07147715985774994 +3667 5298 PI4KB 0.07147704064846039 +3668 22953 P2RX2 0.07147647440433502 +3669 8763 CD164 0.0714755728840828 +3670 3371 TNC 0.0714755728840828 +3671 84695 LOXL3 0.07147538661956787 +3672 4171 MCM2 0.07147451490163803 +3673 1109 AKR1C4 0.07147403806447983 +3674 1646 AKR1C2 0.07147403806447983 +3675 113457 TUBA3D 0.07147341966629028 +3676 102 ADAM10 0.07147271931171417 +3677 5271 SERPINB8 0.07147032767534256 +3678 84189 SLITRK6 0.07146888971328735 +3679 286887 KRT6C 0.07146842777729034 +3680 54766 BTG4 0.07146835327148438 +3681 8991 SELENBP1 0.07146167755126953 +3682 11077 HSF2BP 0.07146163284778595 +3683 1419 CRYGB 0.07146056741476059 +3684 4284 MIP 0.07145905494689941 +3685 7431 VIM 0.07145709544420242 +3686 10677 AVIL 0.07145632058382034 +3687 256472 TMEM151A 0.07145622372627258 +3688 10388 SYCP2 0.07145516574382782 +3689 676 BRDT 0.07145480066537857 +3690 6795 AURKC 0.0714547261595726 +3691 6691 SPINK2 0.07145469635725021 +3692 163183 SYNE4 0.07145297527313232 +3693 123041 SLC24A4 0.07141219824552536 +3694 8891 EIF2B3 0.0713948979973793 +3695 5062 PAK2 0.07137002050876617 +3696 2917 GRM7 0.07136210799217224 +3697 5071 PRKN 0.07133569568395615 +3698 339829 CCDC39 0.07132413983345032 +3699 2664 GDI1 0.07130132615566254 +3700 4212 MEIS2 0.07130042463541031 +3701 4311 MME 0.0712592750787735 +3702 57680 CHD8 0.07120031863451004 +3703 2196 FAT2 0.07119520008563995 +3704 22983 MAST1 0.07118137925863266 +3705 8643 PTCH2 0.07116448134183884 +3706 389549 FEZF1 0.07111378014087677 +3707 6650 CAPN15 0.07110802084207535 +3708 6305 SBF1 0.07110641896724701 +3709 8925 HERC1 0.07109637558460236 +3710 7204 TRIO 0.07106968760490417 +3711 222663 SCUBE3 0.07100993394851685 +3712 23418 CRB1 0.0709908977150917 +3713 93210 PGAP3 0.07097020000219345 +3714 6742 SSBP1 0.07093078643083572 +3715 9343 EFTUD2 0.07085756957530975 +3716 1509 CTSD 0.07085195183753967 +3717 9922 IQSEC1 0.07084991782903671 +3718 92002 CCNQ 0.07082504034042358 +3719 729920 CRPPA 0.07077845931053162 +3720 27107 ZBTB11 0.07075462490320206 +3721 54507 ADAMTSL4 0.07072506844997406 +3722 5119 CHMP1A 0.07069636881351471 +3723 400569 MED11 0.07067765295505524 +3724 10137 RBM12 0.07065621763467789 +3725 1147 CHUK 0.07065042108297348 +3726 2904 GRIN2B 0.07063348591327667 +3727 4297 KMT2A 0.07060553878545761 +3728 478 ATP1A3 0.07056526094675064 +3729 51364 ZMYND10 0.07055865973234177 +3730 3736 KCNA1 0.07054343074560165 +3731 9723 SEMA3E 0.07052198797464371 +3732 3763 KCNJ6 0.07050284743309021 +3733 64093 SMOC1 0.07049509137868881 +3734 6576 SLC25A1 0.07045125216245651 +3735 54862 CC2D1A 0.0704401507973671 +3736 10319 LAMC3 0.07041263580322266 +3737 3800 KIF5C 0.07041220366954803 +3738 1298 COL9A2 0.07040075957775116 +3739 5689 PSMB1 0.07035209238529205 +3740 1523 CUX1 0.0703289806842804 +3741 23090 ZNF423 0.07031110674142838 +3742 10682 EBP 0.07028481364250183 +3743 8787 RGS9 0.07026433944702148 +3744 10586 MAB21L2 0.07022373378276825 +3745 5048 PAFAH1B1 0.07022304832935333 +3746 9622 KLK4 0.07017926871776581 +3747 1801 DPH1 0.07011065632104874 +3748 25942 SIN3A 0.07008731365203857 +3749 2731 GLDC 0.0700744166970253 +3750 714 C1QC 0.07006664574146271 +3751 1311 COMP 0.07006460428237915 +3752 93650 ACP4 0.07005827873945236 +3753 5515 PPP2CA 0.07004109770059586 +3754 170691 ADAMTS17 0.07003066688776016 +3755 28952 CCDC22 0.07002613693475723 +3756 9129 PRPF3 0.06997816264629364 +3757 57498 KIDINS220 0.06997524946928024 +3758 164 AP1G1 0.06992407143115997 +3759 5274 SERPINI1 0.06988967955112457 +3760 2615 LRRC32 0.06985263526439667 +3761 23040 MYT1L 0.06983999907970428 +3762 10939 AFG3L2 0.0698302686214447 +3763 4929 NR4A2 0.06981558352708817 +3764 118813 ZFYVE27 0.06979182362556458 +3765 57178 ZMIZ1 0.06976866722106934 +3766 54834 GDAP2 0.06975332647562027 +3767 3188 HNRNPH2 0.06973325461149216 +3768 10126 DNAL4 0.06967981159687042 +3769 2593 GAMT 0.06966643780469894 +3770 5457 POU4F1 0.0696612074971199 +3771 22884 WDR37 0.06965623795986176 +3772 256471 MFSD8 0.0696561262011528 +3773 7879 RAB7A 0.06960812211036682 +3774 7507 XPA 0.06960397958755493 +3775 164045 HFM1 0.06960320472717285 +3776 59336 PRDM13 0.06959860771894455 +3777 23509 POFUT1 0.06958362460136414 +3778 11023 VAX1 0.06954865902662277 +3779 9499 MYOT 0.06953207403421402 +3780 652 BMP4 0.06952507048845291 +3781 122961 ISCA2 0.06951455771923065 +3782 7700 ZNF141 0.06950182467699051 +3783 59341 TRPV4 0.06947292387485504 +3784 7280 TUBB2A 0.06947176903486252 +3785 55640 FLVCR2 0.069466233253479 +3786 84879 MFSD2A 0.06943389028310776 +3787 113246 C12orf57 0.06942430883646011 +3788 23646 PLD3 0.06940289586782455 +3789 57582 KCNT1 0.06939171254634857 +3790 267 AMFR 0.06938883662223816 +3791 1460 CSNK2B 0.06938285380601883 +3792 22827 PUF60 0.06936328858137131 +3793 25923 ATL3 0.06933684647083282 +3794 6197 RPS6KA3 0.06928151100873947 +3795 8087 FXR1 0.06926383078098297 +3796 953 ENTPD1 0.06924047321081161 +3797 116461 TSEN15 0.06921933591365814 +3798 8888 MCM3AP 0.06921666860580444 +3799 7080 NKX2-1 0.06919410079717636 +3800 10584 COLEC10 0.06917058676481247 +3801 10913 EDAR 0.0691579207777977 +3802 197 AHSG 0.06915328651666641 +3803 4254 KITLG 0.06915219128131866 +3804 51075 TMX2 0.06914077699184418 +3805 101929726 MYMX 0.0691373199224472 +3806 79693 YRDC 0.06913048774003983 +3807 2260 FGFR1 0.06911882758140564 +3808 199857 ALG14 0.06909719109535217 +3809 10847 SRCAP 0.06908220797777176 +3810 95681 CEP41 0.0690746083855629 +3811 80000 GREB1L 0.06905706971883774 +3812 126326 GIPC3 0.06903603672981262 +3813 6095 RORA 0.06902606785297394 +3814 23086 EXPH5 0.06902367621660233 +3815 23522 KAT6B 0.06902360171079636 +3816 9984 THOC1 0.06901939958333969 +3817 4597 MVD 0.06901923567056656 +3818 406987 MIR204 0.06901320815086365 +3819 56616 DIABLO 0.06901279091835022 +3820 55229 PANK4 0.06901153922080994 +3821 7867 MAPKAPK3 0.06901012361049652 +3822 7062 TCHH 0.06900854408740997 +3823 3299 HSF4 0.06900511682033539 +3824 1411 CRYBA1 0.06900358200073242 +3825 8556 CDC14A 0.06900300830602646 +3826 1427 CRYGS 0.06899669766426086 +3827 124404 SEPTIN12 0.06899546086788177 +3828 201134 CEP112 0.06899447739124298 +3829 9935 MAFB 0.06899379193782806 +3830 64518 TEKT3 0.06899343430995941 +3831 118491 CFAP70 0.06899318844079971 +3832 146754 DNAH2 0.06899303197860718 +3833 80726 IQCN 0.06899294257164001 +3834 130951 M1AP 0.06899294257164001 +3835 157855 KCNU1 0.06899230182170868 +3836 283677 REC114 0.0689922645688057 +3837 117144 CATSPER1 0.06899218261241913 +3838 10881 ACTL7A 0.06899211555719376 +3839 7802 DNALI1 0.0689920037984848 +3840 55779 CFAP44 0.06899187713861465 +3841 79846 CFAP69 0.06898897886276245 +3842 5648 MASP1 0.06898651272058487 +3843 23219 FBXO28 0.06898649036884308 +3844 23299 BICD2 0.06898367404937744 +3845 9775 EIF4A3 0.0689658373594284 +3846 26153 KIF26A 0.06896386295557022 +3847 93953 GCNA 0.06894375383853912 +3848 100996717 NOTCH2NLC 0.0689278244972229 +3849 8722 CTSF 0.06892107427120209 +3850 79983 POF1B 0.06891284883022308 +3851 3067 HDC 0.06887634098529816 +3852 4751 NEK2 0.06884083896875381 +3853 11160 ERLIN2 0.06882619857788086 +3854 338917 VSX2 0.068804532289505 +3855 6536 SLC6A9 0.06875431537628174 +3856 3340 NDST1 0.06871455162763596 +3857 4921 DDR2 0.06868428736925125 +3858 79971 WLS 0.06866775453090668 +3859 63895 PIEZO2 0.06865056604146957 +3860 64065 PERP 0.0686420425772667 +3861 9130 FAM50A 0.06861495971679688 +3862 1917 EEF1A2 0.0686061680316925 +3863 26523 AGO1 0.06860452145338058 +3864 10236 HNRNPR 0.06860221922397614 +3865 81494 CFHR5 0.06856933981180191 +3866 2055 CLN8 0.06855684518814087 +3867 4677 NARS1 0.0685167983174324 +3868 64327 LMBR1 0.06846954673528671 +3869 80746 TSEN2 0.0684688463807106 +3870 51611 DPH5 0.06845705211162567 +3871 2560 GABRB1 0.06832785159349442 +3872 518 ATP5MC3 0.06830772012472153 +3873 1954 MEGF8 0.06828313320875168 +3874 63932 STEEP1 0.06825825572013855 +3875 84162 BLTP1 0.06824418157339096 +3876 4747 NEFL 0.06822317838668823 +3877 51729 WBP11 0.06821202486753464 +3878 80704 SLC19A3 0.06812257319688797 +3879 3356 HTR2A 0.0680767223238945 +3880 51185 CRBN 0.06805731356143951 +3881 10765 KDM5B 0.06803511828184128 +3882 55851 PSENEN 0.06802275031805038 +3883 367 AR 0.06800699979066849 +3884 51621 KLF13 0.06799863278865814 +3885 29954 POMT2 0.06793272495269775 +3886 23204 ARL6IP1 0.06792254000902176 +3887 8754 ADAM9 0.06792133301496506 +3888 57822 GRHL3 0.067909374833107 +3889 3859 KRT12 0.06790705025196075 +3890 23443 SLC35A3 0.06784630566835403 +3891 2299 FOXI1 0.06783980131149292 +3892 81603 TRIM8 0.06782793253660202 +3893 8892 EIF2B2 0.06781929731369019 +3894 80816 ASXL3 0.06781280040740967 +3895 80185 TTI2 0.06779373437166214 +3896 149461 CLDN19 0.06777225434780121 +3897 57688 ZSWIM6 0.06776902824640274 +3898 64837 KLC2 0.06776495277881622 +3899 9230 RAB11B 0.06776081770658493 +3900 23154 NCDN 0.06775806099176407 +3901 1315 COPB1 0.06774267554283142 +3902 2703 GJA8 0.06771272420883179 +3903 50814 NSDHL 0.06770829856395721 +3904 5582 PRKCG 0.06769344955682755 +3905 29978 UBQLN2 0.06768791377544403 +3906 3760 KCNJ3 0.0676870048046112 +3907 5375 PMP2 0.06768055260181427 +3908 81624 DIAPH3 0.06766680628061295 +3909 51083 GAL 0.06765212118625641 +3910 26040 SETBP1 0.06762653589248657 +3911 1297 COL9A1 0.0676257312297821 +3912 10283 CWC27 0.06761319190263748 +3913 388939 PCARE 0.06759115308523178 +3914 196 AHR 0.06759101897478104 +3915 84140 FAM161A 0.06759043037891388 +3916 5145 PDE6A 0.06759028881788254 +3917 2979 GUCA1B 0.06759005784988403 +3918 1258 CNGB1 0.06759005784988403 +3919 23020 SNRNP200 0.06759002059698105 +3920 25794 FSCN2 0.06758974492549896 +3921 9423 NTN1 0.06758642941713333 +3922 7345 UCHL1 0.0675826147198677 +3923 8575 PRKRA 0.06755729764699936 +3924 10297 APC2 0.06753821671009064 +3925 54902 TTC19 0.067535899579525 +3926 5575 PRKAR1B 0.06746499985456467 +3927 57187 THOC2 0.06745350360870361 +3928 4990 SIX6 0.06745348125696182 +3929 6891 TAP2 0.06743721663951874 +3930 6890 TAP1 0.06743721663951874 +3931 6892 TAPBP 0.06743721663951874 +3932 80821 DDHD1 0.06740617752075195 +3933 23247 KATNIP 0.06740431487560272 +3934 51013 EXOSC1 0.06737329810857773 +3935 23005 MAPKBP1 0.06734560430049896 +3936 81615 TMEM163 0.06730038672685623 +3937 5130 PCYT1A 0.06729987263679504 +3938 58499 ZNF462 0.06727620959281921 +3939 388698 FLG2 0.06727106869220734 +3940 348180 CTU2 0.06726496666669846 +3941 27315 PGAP2 0.06726393848657608 +3942 526 ATP6V1B2 0.0672515481710434 +3943 1663 DDX11 0.06724052876234055 +3944 57589 RIC1 0.06721910089254379 +3945 3857 KRT9 0.06719852983951569 +3946 60481 ELOVL5 0.0671721026301384 +3947 10144 FAM13A 0.06716307252645493 +3948 23028 KDM1A 0.06714954972267151 +3949 4123 MAN2C1 0.06713110953569412 +3950 7161 TP73 0.0671267881989479 +3951 23112 TNRC6B 0.06705252081155777 +3952 283989 TSEN54 0.06693277508020401 +3953 84188 FAR1 0.06687623262405396 +3954 5934 RBL2 0.06687447428703308 +3955 8314 BAP1 0.06680330634117126 +3956 54928 BPNT2 0.06679239869117737 +3957 56171 DNAH7 0.06678582727909088 +3958 3211 HOXB1 0.06674733757972717 +3959 4140 MARK3 0.06674312055110931 +3960 1802 DPH2 0.06673922389745712 +3961 1412 CRYBA2 0.0667351558804512 +3962 116931 MED12L 0.06673437356948853 +3963 2779 GNAT1 0.0667332336306572 +3964 1615 DARS1 0.06672277301549911 +3965 2254 FGF9 0.06672079861164093 +3966 7123 CLEC3B 0.06671854853630066 +3967 90167 FRMD7 0.06671619415283203 +3968 402 ARL2 0.06671490520238876 +3969 4618 MYF6 0.0667048841714859 +3970 4841 NONO 0.0667022094130516 +3971 135935 NOBOX 0.06669722497463226 +3972 255101 CFAP65 0.0666944831609726 +3973 10566 AKAP3 0.0666932687163353 +3974 159686 CFAP58 0.0666932687163353 +3975 81833 SPACA1 0.06669323146343231 +3976 84074 QRICH2 0.06669314950704575 +3977 7994 KAT6A 0.0666862428188324 +3978 9731 CEP104 0.066679447889328 +3979 10978 CLP1 0.0666504055261612 +3980 4208 MEF2C 0.06664101779460907 +3981 23370 ARHGEF18 0.06663775444030762 +3982 50801 KCNK4 0.0666169673204422 +3983 7476 WNT7A 0.06661153584718704 +3984 79083 MLPH 0.06659993529319763 +3985 4849 CNOT3 0.0665973499417305 +3986 3694 ITGB6 0.0665958970785141 +3987 79147 FKRP 0.06657245755195618 +3988 25959 KANK2 0.06656720489263535 +3989 6571 SLC18A2 0.06656424701213837 +3990 64094 SMOC2 0.06655925512313843 +3991 9094 UNC119 0.0665544718503952 +3992 55165 CEP55 0.06653743237257004 +3993 80210 ARMC9 0.0665254071354866 +3994 2332 FMR1 0.06651221960783005 +3995 283489 CHAMP1 0.06650426983833313 +3996 84265 POLR3GL 0.0664108544588089 +3997 5621 PRNP 0.06638509035110474 +3998 768206 PRCD 0.06638430804014206 +3999 375298 CERKL 0.06638411432504654 +4000 727857 BHLHA9 0.066383957862854 +4001 6515 SLC2A3 0.06633252650499344 +4002 207 AKT1 0.0663243755698204 +4003 128486 FITM2 0.0663105845451355 +4004 3746 KCNC1 0.0662463828921318 +4005 51256 TBC1D7 0.06621470302343369 +4006 6311 ATXN2 0.06619204580783844 +4007 10999 SLC27A4 0.06619012355804443 +4008 51204 TACO1 0.06616489589214325 +4009 3912 LAMB1 0.06616080552339554 +4010 3482 IGF2R 0.06613537669181824 +4011 4330 MN1 0.06609052419662476 +4012 8506 CNTNAP1 0.06608620285987854 +4013 1145 CHRNE 0.06606437265872955 +4014 84700 MYO18B 0.06606236845254898 +4015 79719 AAGAB 0.0660264864563942 +4016 23096 IQSEC2 0.06601092964410782 +4017 10585 POMT1 0.06596560031175613 +4018 53371 NUP54 0.06594917178153992 +4019 64207 IRF2BPL 0.06593803316354752 +4020 10565 ARFGEF1 0.06588438898324966 +4021 2784 GNB3 0.06586520373821259 +4022 3149 HMGB3 0.0658542588353157 +4023 57465 TBC1D24 0.06583945453166962 +4024 4703 NEB 0.06581290066242218 +4025 23414 ZFPM2 0.0657987967133522 +4026 129685 TAF8 0.06577344238758087 +4027 5727 PTCH1 0.06576337665319443 +4028 7283 TUBG1 0.06574957817792892 +4029 10501 SEMA6B 0.06574781239032745 +4030 23746 AIPL1 0.06574617326259613 +4031 23155 CLCC1 0.06573989242315292 +4032 2760 GM2A 0.06573493033647537 +4033 388531 RGS9BP 0.06573232263326645 +4034 344167 FOXI3 0.06570357084274292 +4035 26224 FBXL3 0.0656479150056839 +4036 84668 HYCC1 0.06562944501638412 +4037 150468 CKAP2L 0.06561769545078278 +4038 23184 MESD 0.06560401618480682 +4039 8242 KDM5C 0.06558176875114441 +4040 5158 PDE6B 0.06553775072097778 +4041 57102 FERRY3 0.06534843891859055 +4042 85301 COL27A1 0.06533398479223251 +4043 5594 MAPK1 0.06533026695251465 +4044 9568 GABBR2 0.06531395763158798 +4045 84515 MCM8 0.065261609852314 +4046 346007 EYS 0.06522057205438614 +4047 3420 IDH3B 0.06522054225206375 +4048 977 CD151 0.06518237292766571 +4049 113612 CYP2U1 0.06517867743968964 +4050 54974 THG1L 0.06517395377159119 +4051 23394 ADNP 0.06517346203327179 +4052 9772 TMEM94 0.06515087187290192 +4053 5524 PTPA 0.06514782458543777 +4054 122622 ADSS1 0.0651409775018692 +4055 1786 DNMT1 0.06508813798427582 +4056 3973 LHCGR 0.0650777816772461 +4057 6999 TDO2 0.06505715101957321 +4058 8890 EIF2B4 0.06504616886377335 +4059 9445 ITM2B 0.06504345685243607 +4060 6935 ZEB1 0.06500019878149033 +4061 463 ZFHX3 0.06496136635541916 +4062 81857 MED25 0.06494879722595215 +4063 23512 SUZ12 0.06488968431949615 +4064 9037 SEMA5A 0.06486637145280838 +4065 1200 TPP1 0.0648421049118042 +4066 23426 GRIP1 0.06482171267271042 +4067 1406 CRX 0.0648123249411583 +4068 7701 ZNF142 0.06479833275079727 +4069 26011 TENM4 0.06479178369045258 +4070 1600 DAB1 0.06474963575601578 +4071 6418 SET 0.06474406272172928 +4072 51294 PCDH12 0.06473841518163681 +4073 1741 DLG3 0.0647289827466011 +4074 23405 DICER1 0.06463005393743515 +4075 6100 RP9 0.06462818384170532 +4076 203068 TUBB 0.06461922824382782 +4077 1814 DRD3 0.06458847969770432 +4078 80201 HKDC1 0.06457167863845825 +4079 7286 TUFT1 0.06457147002220154 +4080 63910 SLC17A9 0.06456739455461502 +4081 8323 FZD6 0.06456711888313293 +4082 23268 DNMBP 0.06456639617681503 +4083 2224 FDPS 0.06456416100263596 +4084 26610 ELP4 0.06456181406974792 +4085 120766137 HRURF 0.06456024199724197 +4086 10149 ADGRG2 0.06455866247415543 +4087 1495 CTNNA1 0.06455850601196289 +4088 197135 PATL2 0.06455626338720322 +4089 200403 VWA3B 0.0645555704832077 +4090 26284 ERAL1 0.06455515325069427 +4091 83894 TTC29 0.06454388052225113 +4092 199223 TTC21A 0.06454289704561234 +4093 1769 DNAH8 0.06454289704561234 +4094 144406 CFAP251 0.06454289704561234 +4095 122481 AK7 0.06454282999038696 +4096 1825 DSC3 0.06453406810760498 +4097 10220 GDF11 0.06453166902065277 +4098 8996 NOL3 0.06453055888414383 +4099 2774 GNAL 0.06451549381017685 +4100 1748 DLX4 0.06450971961021423 +4101 6477 SIAH1 0.06447993963956833 +4102 5429 POLH 0.0644463300704956 +4103 727676 SNORD118 0.06442876160144806 +4104 57670 KIAA1549 0.06437982618808746 +4105 9474 ATG5 0.06434738636016846 +4106 64856 VWA1 0.06426454335451126 +4107 374654 KIF7 0.06426247954368591 +4108 85300 ATCAY 0.06423761695623398 +4109 64324 NSD1 0.06420795619487762 +4110 3769 KCNJ13 0.06419585645198822 +4111 2697 GJA1 0.06417770683765411 +4112 27102 EIF2AK1 0.06417769193649292 +4113 5610 EIF2AK2 0.06416884064674377 +4114 84570 COL25A1 0.06415317952632904 +4115 6662 SOX9 0.0641346201300621 +4116 7140 TNNT3 0.06413079053163528 +4117 92211 CDHR1 0.06409870088100433 +4118 60509 AGBL5 0.0640985295176506 +4119 57709 SLC7A14 0.06409770995378494 +4120 24148 PRPF6 0.06409689784049988 +4121 130557 ZNF513 0.0640961304306984 +4122 8635 RNASET2 0.06408791244029999 +4123 79583 TMEM231 0.06408647447824478 +4124 54757 FAM20A 0.06408608704805374 +4125 5081 PAX7 0.06406716257333755 +4126 10606 PAICS 0.06403538584709167 +4127 3300 DNAJB2 0.06398574262857437 +4128 9940 DLEC1 0.06390083581209183 +4129 2263 FGFR2 0.06388062983751297 +4130 84138 SLC7A6OS 0.06383053213357925 +4131 55081 IFT57 0.06382417678833008 +4132 10613 ERLIN1 0.06373459845781326 +4133 23265 EXOC7 0.0637112557888031 +4134 64221 ROBO3 0.06371021270751953 +4135 83938 LRMDA 0.06366750597953796 +4136 55628 ZNF407 0.0636419951915741 +4137 51004 COQ6 0.06363759189844131 +4138 23314 SATB2 0.06359157711267471 +4139 1292 COL6A2 0.06358063220977783 +4140 51324 SPG21 0.06355202943086624 +4141 724066 ATXN8 0.06355021148920059 +4142 55703 POLR3B 0.06351307779550552 +4143 6315 ATXN8OS 0.06351133435964584 +4144 25929 GEMIN5 0.06349853426218033 +4145 55250 ELP2 0.06340997666120529 +4146 56521 DNAJC12 0.06340513378381729 +4147 4644 MYO5A 0.06337079405784607 +4148 8621 CDK13 0.06331931054592133 +4149 5255 PHKA1 0.06328236311674118 +4150 79143 MBOAT7 0.06327502429485321 +4151 658 BMPR1B 0.06325896084308624 +4152 777 CACNA1E 0.06319611519575119 +4153 9562 MINPP1 0.06316032260656357 +4154 5528 PPP2R5D 0.06315448135137558 +4155 7227 TRPS1 0.06309162825345993 +4156 29926 GMPPA 0.06307625770568848 +4157 3192 HNRNPU 0.06306207925081253 +4158 7920 ABHD16A 0.0630408376455307 +4159 54796 BNC2 0.06301891803741455 +4160 4117 MAK 0.06301101297140121 +4161 9128 PRPF4 0.06301054358482361 +4162 10461 MERTK 0.06301046907901764 +4163 9785 DHX38 0.06301037222146988 +4164 10397 NDRG1 0.06299234926700592 +4165 7384 UQCRC1 0.06297075748443604 +4166 2258 FGF13 0.06295748800039291 +4167 54187 NANS 0.06293975561857224 +4168 7358 UGDH 0.06289961189031601 +4169 147138 TMC8 0.06289847940206528 +4170 56006 SMG9 0.0628807470202446 +4171 340719 NANOS1 0.06285683810710907 +4172 285498 RNF212 0.06285472214221954 +4173 50511 SYCP3 0.06285375356674194 +4174 56155 TEX14 0.06285375356674194 +4175 144165 PRICKLE1 0.0628238394856453 +4176 9725 TMEM63A 0.06281466037034988 +4177 51244 CCDC174 0.06281271576881409 +4178 5307 PITX1 0.06278591603040695 +4179 8367 H4C5 0.06277774274349213 +4180 54806 AHI1 0.0627671480178833 +4181 5833 PCYT2 0.0626930221915245 +4182 51319 RSRC1 0.06269299983978271 +4183 7439 BEST1 0.06263221055269241 +4184 60482 SLC5A7 0.06261835247278214 +4185 26121 PRPF31 0.06258828192949295 +4186 10907 TXNL4A 0.06257841736078262 +4187 1421 CRYGD 0.06255920231342316 +4188 10457 GPNMB 0.0625569075345993 +4189 170692 ADAMTS18 0.06255632638931274 +4190 23078 VWA8 0.06255494803190231 +4191 406960 MIR184 0.06255380809307098 +4192 10654 PMVK 0.0625520572066307 +4193 494551 WEE2 0.06253977119922638 +4194 5940 RBMY1A1 0.06253182142972946 +4195 57055 DAZ2 0.06253182142972946 +4196 8653 DDX3Y 0.06253182142972946 +4197 1617 DAZ1 0.06253182142972946 +4198 57054 DAZ3 0.06253182142972946 +4199 8287 USP9Y 0.06253182142972946 +4200 84071 ARMC2 0.06252966821193695 +4201 476 ATP1A1 0.06252925097942352 +4202 8632 DNAH17 0.06252721697092056 +4203 6756 SSX1 0.06252697110176086 +4204 401024 FSIP2 0.06252685189247131 +4205 4137 MAPT 0.06251998245716095 +4206 4070 TACSTD2 0.0625135749578476 +4207 27316 RBMX 0.06248924508690834 +4208 1301 COL11A1 0.06242886185646057 +4209 54499 TMCO1 0.062411293387413025 +4210 84733 CBX2 0.06240788474678993 +4211 55213 RCBTB1 0.06240265443921089 +4212 57863 CADM3 0.06239714100956917 +4213 2192 FBLN1 0.062382400035858154 +4214 54413 NLGN3 0.062354572117328644 +4215 9333 TGM5 0.06234731525182724 +4216 5447 POR 0.06232885271310806 +4217 5144 PDE4D 0.06231185421347618 +4218 4214 MAP3K1 0.06230061873793602 +4219 4016 LOXL1 0.062290631234645844 +4220 343450 KCNT2 0.062277015298604965 +4221 92840 REEP6 0.06226957216858864 +4222 5149 PDE6H 0.062245991080999374 +4223 7401 CLRN1 0.062231920659542084 +4224 6049 RNF6 0.06220138072967529 +4225 23031 MAST3 0.06218528747558594 +4226 4693 NDP 0.06218403950333595 +4227 55624 POMGNT1 0.06216906011104584 +4228 64864 RFX7 0.06211737170815468 +4229 50939 IMPG2 0.06209815293550491 +4230 22995 CEP152 0.0620465949177742 +4231 80267 EDEM3 0.06203960254788399 +4232 1105 CHD1 0.06201160326600075 +4233 55857 KIZ 0.06196228787302971 +4234 3889 KRT83 0.06188642233610153 +4235 51761 ATP8A2 0.06185057759284973 +4236 6844 VAMP2 0.06183645874261856 +4237 1723 DHODH 0.06180775910615921 +4238 9289 ADGRG1 0.06179261580109596 +4239 1634 DCN 0.061758458614349365 +4240 128338 DRAM2 0.061751287430524826 +4241 611 OPN1SW 0.061749864369630814 +4242 1638 DCT 0.061738766729831696 +4243 65267 WNK3 0.06172075495123863 +4244 23111 SPART 0.061647024005651474 +4245 79641 ROGDI 0.06159147247672081 +4246 8312 AXIN1 0.061577312648296356 +4247 9829 DNAJC6 0.0615227073431015 +4248 1795 DOCK3 0.06151944771409035 +4249 6472 SHMT2 0.06151266396045685 +4250 10801 SEPTIN9 0.06149217113852501 +4251 6509 SLC1A4 0.06148234382271767 +4252 25793 FBXO7 0.061459124088287354 +4253 26960 NBEA 0.061458978801965714 +4254 27229 TUBGCP4 0.061441414058208466 +4255 773 CACNA1A 0.06144065409898758 +4256 3664 IRF6 0.06141545623540878 +4257 6900 CNTN2 0.0614083968102932 +4258 767 CA8 0.06133647263050079 +4259 54936 ADPRS 0.061324164271354675 +4260 158326 FREM1 0.061310190707445145 +4261 3419 IDH3A 0.06126643717288971 +4262 9653 HS2ST1 0.06122666224837303 +4263 23317 DNAJC13 0.06115178018808365 +4264 3920 LAMP2 0.061146512627601624 +4265 55209 SETD5 0.06106165796518326 +4266 823 CAPN1 0.06106123328208923 +4267 145645 TERB2 0.061006348580121994 +4268 154197 PNLDC1 0.061006348580121994 +4269 54456 MOV10L1 0.061006348580121994 +4270 283847 TERB1 0.061006348580121994 +4271 200162 SPAG17 0.061006102710962296 +4272 254528 MEIOB 0.0610060915350914 +4273 10262 SF3B4 0.06098604574799538 +4274 23431 AP4E1 0.06097859889268875 +4275 57156 TMEM63C 0.0609644316136837 +4276 57459 GATAD2B 0.06089611351490021 +4277 2182 ACSL4 0.06089570000767708 +4278 56270 WDR45B 0.060892630368471146 +4279 149371 EXOC8 0.06083182618021965 +4280 10479 SLC9A6 0.06082473695278168 +4281 9734 HDAC9 0.06077951937913895 +4282 283450 HECTD4 0.060777682811021805 +4283 6548 SLC9A1 0.06075892224907875 +4284 22907 DHX30 0.06074623391032219 +4285 83479 DDX59 0.06073752045631409 +4286 11261 CHP1 0.06073198467493057 +4287 55181 SMG8 0.060720425099134445 +4288 30062 RAX 0.06067952141165733 +4289 54765 TRIM44 0.060676414519548416 +4290 6602 SMARCD1 0.06067226827144623 +4291 1413 CRYBA4 0.06066486984491348 +4292 11081 KERA 0.06066153943538666 +4293 55214 P3H2 0.060654424130916595 +4294 89876 CFAP91 0.06063348427414894 +4295 80204 FBXO11 0.06059722602367401 +4296 1296 COL8A2 0.06053758040070534 +4297 387119 CEP85L 0.06053336337208748 +4298 124512 METTL23 0.06050456315279007 +4299 6295 SAG 0.06050315126776695 +4300 6875 TAF4B 0.0604841448366642 +4301 196528 ARID2 0.06041647866368294 +4302 285489 DOK7 0.0603872612118721 +4303 5702 PSMC3 0.06037047505378723 +4304 10558 SPTLC1 0.0603579543530941 +4305 3094 HINT1 0.06035413593053818 +4306 55084 SOBP 0.060315705835819244 +4307 6096 RORB 0.06024956703186035 +4308 5308 PITX2 0.060245513916015625 +4309 85015 USP45 0.060215648263692856 +4310 146227 BEAN1 0.06020308658480644 +4311 1496 CTNNA2 0.06018829345703125 +4312 7136 TNNI2 0.060179226100444794 +4313 55869 HDAC8 0.06017335131764412 +4314 10771 ZMYND11 0.06016828492283821 +4315 8289 ARID1A 0.06014562398195267 +4316 51114 ZDHHC9 0.060126811265945435 +4317 158401 SHOC1 0.060094889253377914 +4318 10046 MAMLD1 0.06008834391832352 +4319 55627 SMPD4 0.06007425859570503 +4320 8239 USP9X 0.06005314365029335 +4321 29980 DONSON 0.06004492565989494 +4322 29098 RANGRF 0.06003803014755249 +4323 7871 SLMAP 0.06003803014755249 +4324 65055 REEP1 0.06000310182571411 +4325 7275 TUB 0.05996648594737053 +4326 57492 ARID1B 0.059949759393930435 +4327 24 ABCA4 0.0599416121840477 +4328 55331 ACER3 0.059938348829746246 +4329 169522 KCNV2 0.05993656441569328 +4330 9928 KIF14 0.059935446828603745 +4331 57167 SALL4 0.059926439076662064 +4332 6253 RTN2 0.05991625413298607 +4333 23476 BRD4 0.05990513041615486 +4334 1293 COL6A3 0.05984945222735405 +4335 3052 HCCS 0.05983797833323479 +4336 9427 ECEL1 0.05983078107237816 +4337 340419 RSPO2 0.059823594987392426 +4338 343035 RD3 0.05981023982167244 +4339 5376 PMP22 0.05979146808385849 +4340 83550 GPR101 0.05971789360046387 +4341 4593 MUSK 0.059710707515478134 +4342 84274 COQ5 0.059677645564079285 +4343 1139 CHRNA7 0.05966125801205635 +4344 4901 NRL 0.059654902666807175 +4345 221692 PHACTR1 0.059649039059877396 +4346 26278 SACS 0.059640150517225266 +4347 219844 HYLS1 0.059635065495967865 +4348 11012 KLK11 0.05962715670466423 +4349 7407 VARS1 0.05962280184030533 +4350 84065 TMEM222 0.05962194502353668 +4351 8988 HSPB3 0.05959886312484741 +4352 4361 MRE11 0.05959812551736832 +4353 55623 THUMPD1 0.05959269404411316 +4354 10695 CNPY3 0.05955232307314873 +4355 50651 SLC45A1 0.059539683163166046 +4356 3229 HOXC13 0.059530604630708694 +4357 3590 IL11RA 0.059512171894311905 +4358 6595 SMARCA2 0.05948402360081673 +4359 51360 MBTPS2 0.05946988984942436 +4360 55691 FRMD4A 0.05945505201816559 +4361 9759 HDAC4 0.05943825840950012 +4362 7291 TWIST1 0.05943674221634865 +4363 10594 PRPF8 0.05942613258957863 +4364 1501 CTNND2 0.05939503386616707 +4365 283209 PGM2L1 0.05939175933599472 +4366 23503 ZFYVE26 0.05938904359936714 +4367 6812 STXBP1 0.059375207871198654 +4368 23325 WASHC4 0.05935516208410263 +4369 57152 SLURP1 0.05928155407309532 +4370 317719 KLHL10 0.05926571413874626 +4371 5161 PDHA2 0.05926426500082016 +4372 140801 RPL10L 0.05926426500082016 +4373 56154 TEX15 0.05926397070288658 +4374 84816 RTN4IP1 0.0592460036277771 +4375 84233 TMEM126A 0.05923309922218323 +4376 6908 TBP 0.059176329523324966 +4377 92154 MTSS2 0.059148214757442474 +4378 6659 SOX4 0.05912772938609123 +4379 284361 EMC10 0.059099018573760986 +4380 253959 RALGAPA1 0.059095051139593124 +4381 10015 PDCD6IP 0.05906514823436737 +4382 8665 EIF3F 0.05902080982923508 +4383 56910 STARD7 0.05901864171028137 +4384 83844 USP26 0.05901561677455902 +4385 4942 OAT 0.05898665264248848 +4386 10715 CERS1 0.05894765630364418 +4387 5455 POU3F3 0.05893801525235176 +4388 51702 PADI3 0.05888832360506058 +4389 7053 TGM3 0.058888111263513565 +4390 84946 LTV1 0.05887804180383682 +4391 6297 SALL2 0.058874934911727905 +4392 6635 SNRPE 0.05886968970298767 +4393 26074 CFAP61 0.05885107442736626 +4394 170302 ARX 0.05882452800869942 +4395 2146 EZH2 0.058801595121622086 +4396 558 AXL 0.05877542495727539 +4397 10011 SRA1 0.05877542495727539 +4398 80207 OPA3 0.05877208709716797 +4399 6334 SCN8A 0.05876682698726654 +4400 23067 SETD1B 0.05873064696788788 +4401 6712 SPTBN2 0.05870744213461876 +4402 8363 H4C11 0.05869842693209648 +4403 9517 SPTLC2 0.058627307415008545 +4404 3730 ANOS1 0.05857957527041435 +4405 81545 FBXO38 0.05856410786509514 +4406 53616 ADAM22 0.05852363258600235 +4407 3748 KCNC3 0.058516282588243484 +4408 23568 ARL2BP 0.058510515838861465 +4409 8842 PROM1 0.058464016765356064 +4410 6857 SYT1 0.05846226215362549 +4411 1834 DSPP 0.05846099555492401 +4412 2261 FGFR3 0.0584588423371315 +4413 7020 TFAP2A 0.058437976986169815 +4414 126695 KDF1 0.05842761695384979 +4415 7480 WNT10B 0.05839853733778 +4416 10733 PLK4 0.05837118625640869 +4417 1474 CST6 0.05828661471605301 +4418 8777 MPDZ 0.05826250836253166 +4419 10982 MAPRE2 0.05824968218803406 +4420 3035 HARS1 0.05824330076575279 +4421 83394 PITPNM3 0.05822564661502838 +4422 283652 SLC24A5 0.05822417512536049 +4423 27286 SRPX2 0.05813473090529442 +4424 2891 GRIA2 0.058124661445617676 +4425 55689 YEATS2 0.058121275156736374 +4426 154881 KCTD7 0.05810796096920967 +4427 9698 PUM1 0.058068372309207916 +4428 317761 C14orf39 0.05800965800881386 +4429 10749 KIF1C 0.05798183009028435 +4430 343641 TGM6 0.057944316416978836 +4431 6843 VAMP1 0.05791940167546272 +4432 118987 PDZD8 0.057894740253686905 +4433 2773 GNAI3 0.05785691738128662 +4434 3614 IMPDH1 0.05785041302442551 +4435 6616 SNAP25 0.05784282833337784 +4436 57704 GBA2 0.05782542750239372 +4437 7025 NR2F1 0.057815562933683395 +4438 113278 SLC52A3 0.057809531688690186 +4439 23102 TBC1D2B 0.05777326598763466 +4440 63982 ANO3 0.057757120579481125 +4441 7750 ZMYM2 0.057708483189344406 +4442 4927 NUP88 0.05769885703921318 +4443 26005 C2CD3 0.05767635256052017 +4444 1938 EEF2 0.0576384998857975 +4445 51684 SUFU 0.057628754526376724 +4446 4781 NFIB 0.057623326778411865 +4447 122402 TDRD9 0.05761943757534027 +4448 7545 ZIC1 0.05760958418250084 +4449 5010 CLDN11 0.057608652859926224 +4450 80856 LNPK 0.057594966143369675 +4451 8831 SYNGAP1 0.05759119614958763 +4452 6103 RPGR 0.05758725106716156 +4453 54014 BRWD1 0.057573918253183365 +4454 1822 ATN1 0.05753593146800995 +4455 1781 DYNC1I2 0.05750773847103119 +4456 5173 PDYN 0.057445552200078964 +4457 8566 PDXK 0.05738691985607147 +4458 10528 NOP56 0.057384297251701355 +4459 10519 CIB1 0.057379256933927536 +4460 57647 DHX37 0.05734819173812866 +4461 8204 NRIP1 0.057307228446006775 +4462 646960 PRSS56 0.057216618210077286 +4463 26022 TMEM98 0.05721622705459595 +4464 83999 KREMEN1 0.05720109865069389 +4465 1415 CRYBB2 0.057200051844120026 +4466 27151 CPAMD8 0.057192713022232056 +4467 818 CAMK2G 0.05719071626663208 +4468 5859 QARS1 0.057168811559677124 +4469 9675 TTI1 0.0571681410074234 +4470 7143 TNR 0.057158101350069046 +4471 55145 THAP1 0.05712708458304405 +4472 401474 SAMD12 0.057121504098176956 +4473 79228 THOC6 0.05710495263338089 +4474 8910 SGCE 0.057063885033130646 +4475 5977 DPF2 0.05698453634977341 +4476 26128 KIFBP 0.05696629360318184 +4477 80347 COASY 0.05680815875530243 +4478 4884 NPTX1 0.0568067692220211 +4479 6487 ST3GAL3 0.056780777871608734 +4480 1642 DDB1 0.05676417052745819 +4481 3839 KPNA3 0.05676262453198433 +4482 2706 GJB2 0.05673224851489067 +4483 23556 PIGN 0.056727971881628036 +4484 85378 TUBGCP6 0.056724078953266144 +4485 4647 MYO7A 0.056656498461961746 +4486 1500 CTNND1 0.0565590001642704 +4487 4649 MYO9A 0.05650780722498894 +4488 9320 TRIP12 0.056500013917684555 +4489 114327 EFHC1 0.0564805343747139 +4490 84225 ZMYND15 0.056477244943380356 +4491 23261 CAMTA1 0.056449130177497864 +4492 3708 ITPR1 0.056440792977809906 +4493 4653 MYOC 0.05637635663151741 +4494 9254 CACNA2D2 0.056364212185144424 +4495 2245 FGD1 0.056231703609228134 +4496 83552 MFRP 0.05622442439198494 +4497 8295 TRRAP 0.05620928108692169 +4498 64601 VPS16 0.05617683380842209 +4499 200373 CFAP221 0.05617649853229523 +4500 4920 ROR2 0.056173570454120636 +4501 6605 SMARCE1 0.05612008646130562 +4502 10299 MARCHF6 0.056099697947502136 +4503 9096 TBX18 0.056063566356897354 +4504 54967 CT55 0.05606241524219513 +4505 10430 TMEM147 0.05601251497864723 +4506 1512 CTSH 0.056006502360105515 +4507 5032 P2RY11 0.056006502360105515 +4508 1103 CHAT 0.05597446858882904 +4509 999 CDH1 0.05595921352505684 +4510 7319 UBE2A 0.05589600279927254 +4511 83723 TLCD3B 0.055886685848236084 +4512 9578 CDC42BPB 0.0558842271566391 +4513 10347 ABCA7 0.05586431547999382 +4514 55777 MBD5 0.05583379417657852 +4515 2737 GLI3 0.0558105893433094 +4516 3315 HSPB1 0.05578935891389847 +4517 8086 AAAS 0.05574868991971016 +4518 5981 RFC1 0.055722448974847794 +4519 9711 RUBCN 0.05567636713385582 +4520 147495 APCDD1 0.055632274597883224 +4521 3020 H3-3A 0.05562986806035042 +4522 158 ADSL 0.05562937632203102 +4523 85465 SELENOI 0.05562857165932655 +4524 1462 VCAN 0.05562734603881836 +4525 146167 SLC38A8 0.05560682713985443 +4526 5792 PTPRF 0.05559380725026131 +4527 1349 COX7B 0.05556819587945938 +4528 9227 LRAT 0.05547032877802849 +4529 4036 LRP2 0.055456727743148804 +4530 100288687 DUX4 0.05542510375380516 +4531 22947 DUX4L1 0.05542510375380516 +4532 84628 NTNG2 0.055397190153598785 +4533 374969 SVBP 0.05537334457039833 +4534 8912 CACNA1H 0.05528939887881279 +4535 57211 ADGRG6 0.05526098608970642 +4536 224 ALDH3A2 0.05520475283265114 +4537 56978 PRDM8 0.055177878588438034 +4538 26173 INTS1 0.05511844903230667 +4539 51062 ATL1 0.055116329342126846 +4540 8218 CLTCL1 0.05508798733353615 +4541 9364 RAB28 0.05507959425449371 +4542 23093 TTLL5 0.055078789591789246 +4543 22891 ZNF365 0.05506952479481697 +4544 51524 TMEM138 0.05503525584936142 +4545 8200 GDF5 0.054941125214099884 +4546 4771 NF2 0.05493598058819771 +4547 6121 RPE65 0.05493032932281494 +4548 1475 CSTA 0.054929234087467194 +4549 7287 TULP1 0.0549047477543354 +4550 10075 HUWE1 0.05490351840853691 +4551 6664 SOX11 0.0548955462872982 +4552 50846 DHH 0.05489388853311539 +4553 2895 GRID2 0.054833412170410156 +4554 6913 TBX15 0.054747339338064194 +4555 50945 TBX22 0.05472854524850845 +4556 7399 USH2A 0.054716918617486954 +4557 3617 IMPG1 0.054694805294275284 +4558 6102 RP2 0.054679084569215775 +4559 3786 KCNQ3 0.054654937237501144 +4560 10804 GJB6 0.054629456251859665 +4561 22978 NT5C2 0.05462409183382988 +4562 286151 FBXO43 0.05458953604102135 +4563 91057 CCDC34 0.05458800494670868 +4564 78989 COLEC11 0.054575931280851364 +4565 10992 SF3B2 0.054558247327804565 +4566 54084 TSPEAR 0.05455215647816658 +4567 6010 RHO 0.05454934015870094 +4568 6017 RLBP1 0.05454877391457558 +4569 9179 AP4M1 0.05454675108194351 +4570 4035 LRP1 0.054542943835258484 +4571 79734 KCTD17 0.054534222930669785 +4572 375790 AGRN 0.05452924966812134 +4573 126129 CPT1C 0.05442415550351143 +4574 123606 NIPA1 0.05440547317266464 +4575 3891 KRT85 0.05434083193540573 +4576 25814 ATXN10 0.054335203021764755 +4577 29925 GMPPB 0.054306019097566605 +4578 80781 COL18A1 0.05428515002131462 +4579 84059 ADGRV1 0.054220180958509445 +4580 51271 UBAP1 0.05413321778178215 +4581 6326 SCN2A 0.054130248725414276 +4582 10717 AP4B1 0.054126106202602386 +4583 11253 MAN1B1 0.054124265909194946 +4584 111365204 - 0.05411411076784134 +4585 7837 PXDN 0.05411093309521675 +4586 64780 MICAL1 0.054108306765556335 +4587 8710 SERPINB7 0.05410182848572731 +4588 161497 STRC 0.05409993231296539 +4589 117155 CATSPER2 0.05409993231296539 +4590 23384 SPECC1L 0.05409102141857147 +4591 8812 CCNK 0.054080214351415634 +4592 6606 SMN1 0.054033856838941574 +4593 22858 CILK1 0.054016534239053726 +4594 6598 SMARCB1 0.053933966904878616 +4595 6134 RPL10 0.05390876159071922 +4596 1141 CHRNB2 0.05381092056632042 +4597 23065 EMC1 0.05370303988456726 +4598 6785 ELOVL4 0.05369501933455467 +4599 5898 RALA 0.05365101993083954 +4600 1420 CRYGC 0.053633879870176315 +4601 6572 SLC18A3 0.05363192409276962 +4602 10943 MSL3 0.05359027534723282 +4603 2898 GRIK2 0.053540196269750595 +4604 26038 CHD5 0.053508419543504715 +4605 1193 CLIC2 0.05345022678375244 +4606 220 ALDH1A3 0.05344417691230774 +4607 1305 COL13A1 0.05343565344810486 +4608 4487 MSX1 0.0534304715692997 +4609 55553 SOX6 0.05337342992424965 +4610 2255 FGF10 0.05336397886276245 +4611 114034 TOE1 0.05333879590034485 +4612 2566 GABRG2 0.05327783152461052 +4613 205717 USF3 0.053197555243968964 +4614 5818 NECTIN1 0.053191788494586945 +4615 196385 DNAH10 0.05318998172879219 +4616 54828 BCAS3 0.0531797781586647 +4617 79029 AFG2B 0.053167764097452164 +4618 1893 ECM1 0.05315704643726349 +4619 3832 KIF11 0.05312651768326759 +4620 10844 TUBGCP2 0.053110476583242416 +4621 112755 STX1B 0.05306883528828621 +4622 401 PHOX2A 0.053067855536937714 +4623 9338 TCEAL1 0.05306674912571907 +4624 6878 TAF6 0.05305102467536926 +4625 5075 PAX1 0.05303991213440895 +4626 2077 ERF 0.053000375628471375 +4627 5521 PPP2R2B 0.05299708619713783 +4628 139212 DNAAF6 0.052977923303842545 +4629 4659 PPP1R12A 0.05293525010347366 +4630 10641 NPRL2 0.052910055965185165 +4631 163175 LGI4 0.05288586765527725 +4632 5138 PDE2A 0.05287915840744972 +4633 80036 TRPM3 0.052856795489788055 +4634 3209 HOXA13 0.052856504917144775 +4635 128637 TBC1D20 0.0528455413877964 +4636 1778 DYNC1H1 0.05282598361372948 +4637 54476 RNF216 0.05281420797109604 +4638 10413 YAP1 0.052764732390642166 +4639 79574 EPS8L3 0.05269717052578926 +4640 283987 HID1 0.052645545452833176 +4641 8131 NPRL3 0.05260482430458069 +4642 4439 MSH5 0.052587829530239105 +4643 257 ALX3 0.052529189735651016 +4644 8092 ALX1 0.05235494673252106 +4645 84504 NKX6-2 0.052307888865470886 +4646 6736 SRY 0.0522981658577919 +4647 79152 FA2H 0.052150268107652664 +4648 10736 SIX2 0.052068911492824554 +4649 4094 MAF 0.05206404626369476 +4650 6872 TAF1 0.05205221101641655 +4651 79791 FBXO31 0.05204413831233978 +4652 92255 LMBRD2 0.05204157158732414 +4653 10734 STAG3 0.05201265215873718 +4654 25782 RAB3GAP2 0.05198626220226288 +4655 140679 SLC32A1 0.05192919820547104 +4656 93426 SYCE1 0.0518643744289875 +4657 375307 CATIP 0.05186040326952934 +4658 124997 WDR81 0.05185871943831444 +4659 11154 AP4S1 0.0518391877412796 +4660 9881 TRANK1 0.05182376503944397 +4661 9181 ARHGEF2 0.0518229715526104 +4662 64359 NXN 0.05178561806678772 +4663 7436 VLDLR 0.051778942346572876 +4664 23404 EXOSC2 0.05173908546566963 +4665 347733 TUBB2B 0.051726195961236954 +4666 124590 USH1G 0.05169279873371124 +4667 55367 PIDD1 0.051660604774951935 +4668 26090 ABHD12 0.051639996469020844 +4669 10383 TUBB4B 0.051638320088386536 +4670 85440 DOCK7 0.051598504185676575 +4671 23400 ATP13A2 0.05156336724758148 +4672 831 CAST 0.05148472636938095 +4673 100144748 KLLN 0.05144987627863884 +4674 58495 OVOL2 0.05143973231315613 +4675 2617 GARS1 0.05140471085906029 +4676 7306 TYRP1 0.051335688680410385 +4677 220202 ATOH7 0.05131513625383377 +4678 56098 PCDHGC4 0.05122831463813782 +4679 91179 SCARF2 0.05121692270040512 +4680 10084 PQBP1 0.05115456506609917 +4681 7021 TFAP2B 0.05112239345908165 +4682 1857 DVL3 0.050994258373975754 +4683 81846 SBF2 0.05096167325973511 +4684 282809 POC1B 0.05095487833023071 +4685 10381 TUBB3 0.05092604085803032 +4686 1137 CHRNA4 0.050925806164741516 +4687 51109 RDH11 0.05088312178850174 +4688 10087 CERT1 0.05086915194988251 +4689 8243 SMC1A 0.05086853355169296 +4690 6228 RPS23 0.05085625499486923 +4691 65109 UPF3B 0.050827689468860626 +4692 55149 MTPAP 0.05075431242585182 +4693 83715 ESPN 0.0507531575858593 +4694 116115 ZNF526 0.05072122439742088 +4695 284252 KCTD1 0.05066739767789841 +4696 7512 XPNPEP2 0.05065556988120079 +4697 144132 DNHD1 0.05059630796313286 +4698 388662 SLC6A17 0.05057002976536751 +4699 55958 KLHL9 0.050514645874500275 +4700 23347 SMCHD1 0.050215497612953186 +4701 79576 NKAP 0.05010910704731941 +4702 147409 DSG4 0.05007780343294144 +4703 23135 KDM6B 0.050074100494384766 +4704 3972 LHB 0.0500466451048851 +4705 2571 GAD1 0.05003538727760315 +4706 9187 SLC24A1 0.05000535398721695 +4707 1577 CYP3A5 0.04998324066400528 +4708 5740 PTGIS 0.04998324066400528 +4709 118 ADD1 0.04998324066400528 +4710 481 ATP1B1 0.04998324066400528 +4711 8490 RGS5 0.04998324066400528 +4712 5813 PURA 0.049935709685087204 +4713 2535 FZD2 0.04984230548143387 +4714 341640 FREM2 0.049833349883556366 +4715 57477 SHROOM4 0.04978000372648239 +4716 5354 PLP1 0.04968748614192009 +4717 8913 CACNA1G 0.04968343302607536 +4718 26504 CNNM4 0.04967786744236946 +4719 8270 LAGE3 0.049671631306409836 +4720 2583 B4GALNT1 0.0496659018099308 +4721 55280 CWF19L1 0.04963980242609978 +4722 91875 TTC5 0.04960910230875015 +4723 57393 CLTRN 0.04949052631855011 +4724 79184 BRCC3 0.04947696998715401 +4725 1399 CRKL 0.04947223886847496 +4726 55605 KIF21A 0.04942547157406807 +4727 10518 CIB2 0.049253396689891815 +4728 6768 ST14 0.049242179840803146 +4729 2296 FOXC1 0.04921865090727806 +4730 23316 CUX2 0.04920976236462593 +4731 23461 ABCA5 0.04910048469901085 +4732 444 ASPH 0.049093786627054214 +4733 121391 KRT74 0.049082111567258835 +4734 80144 FRAS1 0.048998650163412094 +4735 1121 CHM 0.04892054572701454 +4736 23258 DENND5A 0.04890581965446472 +4737 5077 PAX3 0.048865772783756256 +4738 6144 RPL21 0.04885745793581009 +4739 147912 SIX5 0.04884805157780647 +4740 147183 KRT25 0.04884110018610954 +4741 162514 TRPV3 0.04882226884365082 +4742 6792 CDKL5 0.04880071431398392 +4743 7846 TUBA1A 0.048782430589199066 +4744 6611 SMS 0.04877359792590141 +4745 30813 VSX1 0.04873109608888626 +4746 22856 CHSY1 0.04870660975575447 +4747 2259 FGF14 0.04861300438642502 +4748 4047 LSS 0.04853040352463722 +4749 1009 CDH11 0.048521943390369415 +4750 64840 PORCN 0.04823516309261322 +4751 1968 EIF2S3 0.048083748668432236 +4752 1135 CHRNA2 0.048051826655864716 +4753 128178 EDARADD 0.047993287444114685 +4754 9853 RUSC2 0.04794364422559738 +4755 112802 KRT71 0.04769115149974823 +4756 64834 ELOVL1 0.04768916964530945 +4757 440435 GPR179 0.04768773913383484 +4758 2488 FSHB 0.047675807029008865 +4759 55812 SPATA7 0.04752365127205849 +4760 2903 GRIN2A 0.04747304320335388 +4761 51151 SLC45A2 0.04740496724843979 +4762 10083 USH1C 0.04739714041352272 +4763 9241 NOG 0.04732179641723633 +4764 22880 MORC2 0.0472523532807827 +4765 4014 LORICRIN 0.047115013003349304 +4766 4081 MAB21L1 0.04710607975721359 +4767 55714 TENM3 0.04708266630768776 +4768 1001 CDH3 0.047029417008161545 +4769 10524 KAT5 0.046988002955913544 +4770 3781 KCNN2 0.0469178780913353 +4771 1476 CSTB 0.04691127687692642 +4772 285440 CYP4V2 0.046707067638635635 +4773 778 CACNA1F 0.04668403044342995 +4774 6310 ATXN1 0.0466211773455143 +4775 4308 TRPM1 0.04658263176679611 +4776 345193 LRIT3 0.046577442437410355 +4777 4099 MAG 0.04656504839658737 +4778 25861 WHRN 0.04653022438287735 +4779 64802 NMNAT1 0.046434130519628525 +4780 6323 SCN1A 0.04641495645046234 +4781 9211 LGI1 0.04637889191508293 +4782 93589 CACNA2D4 0.046335481107234955 +4783 4478 MSN 0.04625541716814041 +4784 6683 SPAST 0.04624388739466667 +4785 65217 PCDH15 0.04619492217898369 +4786 23221 RHOBTB2 0.04614998400211334 +4787 3892 KRT86 0.0461479052901268 +4788 3887 KRT81 0.0461479052901268 +4789 11152 WDR45 0.04611518234014511 +4790 65998 ZFTA 0.04607946053147316 +4791 1123 CHN1 0.04591387137770653 +4792 339453 TMEM240 0.045886892825365067 +4793 79955 PDZD7 0.045657265931367874 +4794 2780 GNAT2 0.04564868286252022 +4795 22931 RAB18 0.04560142382979393 +4796 7078 TIMP3 0.04552159458398819 +4797 2916 GRM6 0.045521095395088196 +4798 2202 EFEMP1 0.04543422907590866 +4799 9411 ARHGAP29 0.04541993513703346 +4800 22837 COBLL1 0.04541993513703346 +4801 1739 DLG1 0.04541993513703346 +4802 54848 ARHGEF38 0.04541993513703346 +4803 253738 EBF3 0.04541271924972534 +4804 23389 MED13L 0.0454106442630291 +4805 1855 DVL1 0.04540520906448364 +4806 2705 GJB1 0.04535679146647453 +4807 2248 FGF3 0.04525972902774811 +4808 23732 FRRS1L 0.04521036893129349 +4809 117581 TWIST2 0.04503711313009262 +4810 84295 PHF6 0.04496772214770317 +4811 79092 CARD14 0.04476677626371384 +4812 22926 ATF6 0.044737014919519424 +4813 4935 GPR143 0.044732268899679184 +4814 7045 TGFBI 0.04452918842434883 +4815 412 STS 0.04433542117476463 +4816 23030 KDM4B 0.04426068440079689 +4817 203547 VMA21 0.04415837675333023 +4818 340533 NEXMIF 0.044130921363830566 +4819 4157 MC1R 0.044033851474523544 +4820 785 CACNB4 0.04398452863097191 +4821 56916 SMARCAD1 0.04397064447402954 +4822 10013 HDAC6 0.04393583536148071 +4823 7474 WNT5A 0.04390962794423103 +4824 6529 SLC6A1 0.043880533427000046 +4825 5146 PDE6C 0.043860360980033875 +4826 3670 ISL1 0.043830081820487976 +4827 22901 ARSG 0.043826472014188766 +4828 5080 PAX6 0.04378225654363632 +4829 57194 ATP10A 0.04355807602405548 +4830 5961 PRPH2 0.04341521114110947 +4831 2978 GUCA1A 0.04337436705827713 +4832 84131 CEP78 0.04330987110733986 +4833 84126 ATRIP 0.04325574263930321 +4834 5420 PODXL 0.04323938488960266 +4835 22854 NTNG1 0.04309611767530441 +4836 8450 CUL4B 0.042739104479551315 +4837 79005 SCNM1 0.04272990673780441 +4838 4810 NHS 0.04255422204732895 +4839 1173 AP2M1 0.04245226830244064 +4840 2562 GABRB3 0.04229225590825081 +4841 9681 DEPDC5 0.04214758425951004 +4842 256646 NUTM1 0.04212970659136772 +4843 7484 WNT9B 0.042045269161462784 +4844 4281 MID1 0.041945237666368484 +4845 25776 CBY1 0.041847068816423416 +4846 200879 LIPH 0.04174796864390373 +4847 6011 GRK1 0.04174448177218437 +4848 54101 RIPK4 0.04173879697918892 +4849 4176 MCM7 0.041285645216703415 +4850 1545 CYP1B1 0.04125816747546196 +4851 4534 MTM1 0.04118800908327103 +4852 4128 MAOA 0.04116419330239296 +4853 1261 CNGA3 0.04067565128207207 +4854 488 ATP2A2 0.04062804579734802 +4855 58524 DMRT3 0.04048696532845497 +4856 6845 VAMP7 0.04048696532845497 +4857 57562 CEP126 0.040484149008989334 +4858 8905 AP1S2 0.04038888216018677 +4859 1183 CLCN4 0.04033754765987396 +4860 3476 IGBP1 0.04028596729040146 +4861 3720 JARID2 0.03988835960626602 +4862 57526 PCDH19 0.039838291704654694 +4863 112476 PRRT2 0.03962813690304756 +4864 55906 ZC4H2 0.03956783935427666 +4865 51132 RLIM 0.039343446493148804 +4866 57010 CABP4 0.039232462644577026 +4867 57479 PRR12 0.038940686732530594 +4868 3166 HMX1 0.03882614150643349 +4869 1106 CHD2 0.03869824483990669 +4870 8626 TP63 0.038648951798677444 +4871 10161 LPAR6 0.03852936252951622 +4872 114902 C1QTNF5 0.0384770892560482 +4873 8313 AXIN2 0.03831479698419571 +4874 5083 PAX9 0.038246966898441315 +4875 167691 LCA5 0.037870343774557114 +4876 5583 PRKCH 0.03783171996474266 +4877 241 ALOX5AP 0.03783171996474266 +4878 7299 TYR 0.037407904863357544 +4879 2554 GABRA1 0.0366932637989521 +4880 54386 TERF2IP 0.03660733997821808 +4881 4255 MGMT 0.03660733997821808 +4882 5456 POU3F4 0.0356731191277504 +4883 3615 IMPDH2 0.03534655272960663 +4884 60401 EDA2R 0.035124972462654114 +4885 5199 CFP 0.035098087042570114 +4886 7314 UBB 0.03487627953290939 +4887 6495 SIX1 0.034780848771333694 +4888 2138 EYA1 0.034764230251312256 +4889 81614 NIPA2 0.03444395586848259 +4890 1649 DDIT3 0.03444134071469307 +4891 627 BDNF 0.034310225397348404 +4892 54714 CNGB3 0.03416166827082634 +4893 7531 YWHAE 0.03397485241293907 +4894 2892 GRIA3 0.033607129007577896 +4895 3897 L1CAM 0.0331464447081089 +4896 762 CA4 0.03302580863237381 +4897 8100 IFT88 0.03302580863237381 +4898 1896 EDA 0.032603614032268524 +4899 3090 HIC1 0.03238799422979355 +4900 407975 MIR17HG 0.03231045976281166 +4901 3107 HLA-C 0.032291755080223083 +4902 1947 EFNB1 0.0316961370408535 +4903 5980 REV3L 0.03167371824383736 +4904 80326 WNT10A 0.03163224831223488 +4905 115908 CTHRC1 0.031017115339636803 +4906 4481 MSR1 0.031017115339636803 +4907 5165 PDK3 0.030783886089920998 +4908 668 FOXL2 0.030498694628477097 +4909 1678 TIMM8A 0.0302750114351511 +4910 2487 FRZB 0.029971864074468613 +4911 7373 COL14A1 0.02985798753798008 +4912 81887 LAS1L 0.029572950676083565 +4913 7189 TRAF6 0.029102012515068054 +4914 27238 GPKOW 0.0289453137665987 +4915 54716 SLC6A20 0.02881147526204586 +4916 348932 SLC6A18 0.02881147526204586 +4917 10916 MAGED2 0.028201114386320114 +4918 10295 BCKDK 0.02813393995165825 +4919 23769 FLRT1 0.027799522504210472 +4920 492 ATP2B3 0.02685019001364708 +4921 92949 ADAMTSL1 0.026837853714823723 +4922 116442 RAB39B 0.026137782260775566 +4923 2464 FRA16E 0.025260258466005325 +4924 135 ADORA2A 0.024968113750219345 +4925 23309 SIN3B 0.024740399792790413 +4926 125 ADH1B 0.02433076873421669 +4927 50833 TAS2R16 0.02433076873421669 +4928 221264 AK9 0.02346452884376049 +4929 55193 PBRM1 0.023341292515397072 +4930 4968 OGG1 0.023341292515397072 +4931 11236 RNF139 0.023341292515397072 +4932 3547 IGSF1 0.023068394511938095 +4933 6887 TAL2 0.02292628027498722 +4934 6886 TAL1 0.02292628027498722 +4935 55217 TMLHE 0.022451894357800484 +4936 25894 PLEKHG4 0.02234070748090744 +4937 5892 RAD51D 0.022167570888996124 +4938 25792 CIZ1 0.022059103474020958 +4939 2334 AFF2 0.02173643745481968 +4940 3475 IFRD1 0.021272337064146996 +4941 9555 MACROH2A1 0.0210857056081295 +4942 84679 SLC9A7 0.021077977493405342 +4943 3553 IL1B 0.01997210457921028 +4944 23229 ARHGEF9 0.019886048510670662 +4945 4983 OPHN1 0.019620778039097786 +4946 27185 DISC1 0.01843901537358761 +4947 8320 EOMES 0.01843901537358761 +4948 5063 PAK3 0.017956383526325226 +4949 9758 FRMPD4 0.017436061054468155 +4950 6591 SNAI2 0.016991227865219116 +4951 6653 SORL1 0.01692226342856884 +4952 10452 TOMM40 0.01692226342856884 +4953 63035 BCORL1 0.016897162422537804 +4954 5602 MAPK10 0.016458075493574142 +4955 57599 WDR48 0.01639934629201889 +4956 3105 HLA-A 0.01631775312125683 +4957 84548 TMEM185A 0.01579989492893219 +4958 51663 ZFR 0.01573609560728073 +4959 9640 ZNF592 0.01546360645443201 +4960 345611 IRGM 0.015276974998414516 +4961 5243 ABCB1 0.015276974998414516 +4962 4549 MT-RNR1 0.014983830973505974 +4963 23676 SMPX 0.01475339476019144 +4964 23133 PHF8 0.014370914548635483 +4965 6468 FBXW4 0.014208851382136345 +4966 1750 DLX6 0.014208851382136345 +4967 7979 SEM1 0.014208851382136345 +4968 58513 EPS15L1 0.014208851382136345 +4969 8945 BTRC 0.014208851382136345 +4970 8473 OGT 0.014194289222359657 +4971 7341 SUMO1 0.012945535592734814 +4972 387 RHOA 0.012858984060585499 +4973 340075 ARSI 0.01282245758920908 +4974 80311 KLHL15 0.012614008970558643 +4975 57105 CYSLTR2 0.012019551359117031 +4976 254065 BRWD3 0.011534436605870724 +4977 11043 MID2 0.011378683149814606 +4978 23189 KANK1 0.011076669208705425 +4979 6247 RS1 0.010981245897710323 +4980 1392 CRH 0.010921378619968891 +4981 8629 JRK 0.010738014243543148 +4982 55791 LRIF1 0.010187670588493347 +4983 11141 IL1RAPL1 0.010088716633617878 +4984 24140 FTSJ1 0.009662835858762264 +4985 2018 EMX2 0.009503721259534359 +4986 139411 PTCHD1 0.009008592925965786 +4987 8471 IRS4 0.008600173518061638 +4988 1813 DRD2 0.008506685495376587 +4989 8823 FGF16 0.007901803590357304 +4990 151 ADRA2B 0.007696801796555519 +4991 11178 LZTS1 0.006685458589345217 +4992 4092 SMAD7 0.006662555038928986 +4993 24137 KIF4A 0.006096576806157827 +4994 389856 USP27X 0.005847424268722534 +4995 8013 NR4A3 0.005473855882883072 +4996 6855 SYP 0.005453949794173241 +4997 9817 KEAP1 0.005350383464246988 +4998 265 AMELX 0.004993621725589037 +4999 1730 DIAPH2 0.004353565163910389 +5000 7102 TSPAN7 0.0037892870604991913 +5001 114928 GPRASP2 0.00371866044588387 +5002 57623 ZFAT 0.0036703397054225206 +5003 56159 TEX11 0.003214221680536866 +5004 344018 FIGLA 0.0030524269677698612 +5005 5956 OPN1LW 0.0020142330322414637 +5006 2652 OPN1MW 0.001962586073204875 +5007 2289 FKBP5 0.0018112120451405644 +5008 5358 PLS3 0.00167193787638098 +5009 9075 CLDN2 0.0014041323447600007 +5010 7039 TGFA 0.0013953907182440162 +5011 22999 RIMS1 0.0013420337345451117 +5012 2308 FOXO1 0.001305153127759695 +5013 286464 CFAP47 0.001261367229744792 +5014 91851 CHRDL1 0.0010539572685956955 +5015 60506 NYX 0.0009561936603859067 +5016 1385 CREB1 0.0004152724868617952 +5017 79058 ASPSCR1 0.0004092491290066391 +5018 6757 SSX2 0.0004092491290066391 +5019 3122 HLA-DRA 5.9662561397999525e-05 +5020 134430 WDR36 5.029951353208162e-05 +5021 4909 NTF4 5.029951353208162e-05 +5022 1761 DMRT1 3.594333247747272e-05 +5023 57135 DAZ4 3.366603414178826e-05 +5024 7258 TSPY1 3.366603414178826e-05 +5025 145264 SERPINA12 3.1690815376350656e-05 +5026 151254 C2CD6 2.6946661819238216e-05 diff --git a/output/transformed_hpo_set.tsv b/output/transformed_hpo_set.tsv new file mode 100644 index 0000000..031f80a --- /dev/null +++ b/output/transformed_hpo_set.tsv @@ -0,0 +1,24 @@ +id name +HP:0000007 Autosomal recessive inheritance +HP:0001433 Hepatosplenomegaly +HP:0001903 Anemia +HP:0001541 Ascites +HP:0010972 Anemia of inadequate production +HP:0005561 Abnormal bone marrow cell morphology +HP:0001396 Cholestasis +HP:0001410 Decreased liver function +HP:0002910 Elevated circulating hepatic transaminase concentration +HP:0001399 Hepatic failure +HP:0000938 Osteopenia +HP:0001642 Pulmonic stenosis +HP:0200114 Metabolic alkalosis +HP:0003073 Hypoalbuminemia +HP:0003233 Decreased HDL cholesterol concentration +HP:0001873 Thrombocytopenia +HP:0002151 Increased circulating lactate concentration +HP:0031964 Elevated circulating alanine aminotransferase concentration +HP:0031956 Elevated circulating aspartate aminotransferase concentration +HP:0002366 Abnormal lower motor neuron morphology +HP:0006568 Increased hepatic glycogen content +HP:0004333 Bone-marrow foam cells +HP:0001531 Failure to thrive in infancy