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Documenting differences in ontology files (attempt 2) #9856

Merged
merged 119 commits into from
Apr 4, 2024
Merged

Documenting differences in ontology files (attempt 2) #9856

merged 119 commits into from
Apr 4, 2024

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hrshdhgd
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@hrshdhgd hrshdhgd commented Jun 20, 2023 •
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Continued from #9601

Do not merge until:

  • This PR is merged and
  • A new version of oaklib is released

@hrshdhgd hrshdhgd mentioned this pull request Jun 20, 2023
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hrshdhgd commented Jun 26, 2023 •
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@matentzn : Currently oaklib does not render markdown satisfactorily and this is something I will work on to improve. Right now the code states that linkml-renderer needs to be used. This will need a linkml style YAML to determine what information one expects from the diff markdown output. Could you help me determine this with an example?

This is the render method in linkml-renderer.

@matentzn
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Could you help me determine this with an example?

Can you clarify what you mean? What example do you need from me?

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hrshdhgd commented Jun 27, 2023 •
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What example do you need from me?

What do you expect as the markdown. Is there a release note from some other ontology you want to mimic? As of now oaklib's markdown generator is not upto the mark (I think) and we have the opportunity to improve it. So it's a blank canvas (so to speak).

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I think something like the Mondo release notes is a great starting point!

@hrshdhgd hrshdhgd self-assigned this Jun 28, 2023
@hrshdhgd hrshdhgd mentioned this pull request Jun 29, 2023
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hrshdhgd commented Jun 29, 2023 •
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Pausing on this for some time. Relevant PR in oaklib: INCATools/ontology-access-kit#605

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@hrshdhgd @matentzn what is the status on this? :-0

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matentzn commented Jan 2, 2024

@pnrobinson are you asking because you want to clean PRs or because this is becoming a higher priority for you? This is currently not a priority for us;

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This is more of a new years resolution (zero issue inbox) than a high priority issue.
However, it would be nice to have a better way of showing differences between versions with PR (currently PRs are not helpful because it is impossible to see what has really changed). But this can wait.

@matentzn matentzn mentioned this pull request Feb 4, 2024
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hrshdhgd commented Feb 17, 2024 •
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So I did a runoak .. diff between the latest release of HPO (hpo-base.obo files) and the one before that to generate the following :

thoughts @matentzn @pnrobinson ?

Overview
  • NodeDeletion: 222
  • RemoveSynonym: 65
  • NodeRename: 49
  • EdgeDeletion: 29
  • NodeMove: 41
  • NodeTextDefinitionChange: 26
  • NodeUnobsoletion: 14
  • NewTextDefinition: 15
  • NewSynonym: 8
Nodes Deleted
ID Label
HP:0020236 Vaguely nodular lymph-node architecture
HP:0430067 Positive bloodstream nucleic acid pathogen test
HP:0430081 Anti-Bartonella henselae antibody positivity
HP:0430076 Positive bloodstream antifungal antibody positivity
HP:6000223 Recent history of caustic substance ingestion
HP:0020278 Abnormal lymph-node lymphoctye nuclear morphology
HP:0020295 PAX5 expression
HP:0020233 Abnormal lymph-node cellular antigen expression
HP:0020240 Scattered lymph node individual epithelioid histiocytes
HP:0430102 CD20 expression
HP:6000254 Abnormal proximal convoluted tubule morphology
HP:0020270 Cytologic atypia in mantle cells
HP:6000222 Painful defecation
HP:6000252 Fetal lung hyperechogenicity
HP:6000213 Elevated circulating Angiotensin-converting enzyme concentration
HP:6000219 Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts
HP:0430060 Positive bloodstream parasite-specific antibody positivity
HP:0020235 Effaced lymph-node architecture
HP:0430062 Anti-Japanese encephalitis virus-specific antibody positivity
HP:0020243 Floral-pattern lymph node follicles
HP:0020230 Abnormal lymph-node tissue architecture
HP:6000241 Diminished prolactin response to thyrotrophin-releasing hormone stimulation
HP:0020272 Increased lymph-node plasma cells
HP:6000177 Uvular swelling
HP:0430078 Anti-cryptococcal antibody positivity
HP:0430066 Anti-Zikavirus-specific antibody positivity
HP:0430091 Marker expression
HP:0430070 Placenta previa
HP:0020249 Abnormal lymph-node marginal or mantle zone morphology
HP:6000220 Pharyngeal mass
HP:6000260 History of recent plant thorn skin puncture
HP:6000185 Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio
HP:6000203 Elevated CSF cholestanol concentration
HP:0430099 Cyclin D1 expression
HP:6000202 Cerebrospinal fluid erythrocytes
HP:6000266 2-oxoadipic aciduria
HP:6000249 Enlarged gastric folds
HP:0020281 Finely dispersed lymph node lymphocyte chromatin
HP:0020277 Hodgkin morphology cells
HP:6000201 Reduced hepatic glucose-6-phosphate translocase activity
HP:0430086 Anti-rubella antibody positivity
HP:0430093 BCL6 expression
HP:0020264 Lack of germinal center mitotic figures
HP:0430098 CD45 expression
HP:6000173 Ear pain exacerbated by manipulating tragus or pinna
HP:6000199 Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts
HP:6000197 Reduced muscle phosphoglycerate mutase activity
HP:0430077 Anti-coccidioidal antibody positivity
HP:0020231 Abnormal lymph-node cellular finding
HP:0020248 Irregularly shaped lymph node germinal centers
HP:6000274 2--hydroxyphenylacetic aciduria
HP:0020242 Abnormal lymph-node follicle architecture
HP:0430088 Anti-measles antibody positivity
HP:6000257 Spinal cord granuloma
HP:0020276 Increased large lymphocytes in lymph node
HP:0430051 Positive bloodstream pathogen-specific antibody positivity
HP:0020293 Decreased lymph-node cellular CD19 expression
HP:0430056 Anti-chikungunya virus antibody positivity
HP:0020269 Lymph-node proliferation centers
HP:6000205 Elevated CSF myelin basic protein concentration
HP:0430092 BCL2 expression
HP:0430052 Anti-SARS-CoV-2 coronavirus antibody positivity
HP:0020283 Clumping of lymph node lymphocyte chromatin
HP:6000261 Absent circulating immunoglobulin kappa chain
HP:6000275 4-hydroxyphenyllactic aciduria
HP:0430063 Anti-chlamydia trachomatis-specific antibody positivity
HP:0430082 Anti-Dengue virus antibody positivity
HP:0020294 Increased lymph-node cellular CD19 expression
HP:6000180 Triggered by volatile organic compounds
HP:0430059 Positive bloodstream virus-specific antibody positivity
HP:0020282 Abnormal lymph-node lymphocyte chromatin
HP:6000239 Elevated circulating tumor necrosis factor alpha concentration
HP:6000227 Prosthetic heart valve
HP:6000273 Elevated circulating decanoylcarnitine concentration
HP:6000234 Elevated circulating dihydroxyphenylacetic acid concentration
HP:6000272 Elevated circulating octanoylcarnitine concentration
HP:6000243 Reduced circulating cortisol-binding globulin concentration
HP:0020244 Colonization of follicles by lymphoma cells
HP:0430057 Anti-chlamydia psittaci antibody positivity
HP:6000204 Elevated CSF apolipoprotein B concentration
HP:0020284 Abnormal lymph-node lymphocyte cytoplasm morphology
HP:6000191 Seminal vesicle cyst
HP:0020296 Germinal center B-lymphocyte BCL2 expression
HP:0020275 Reduced lymph node lymphocyte morphological variability
HP:6000248 Synovial fluid crystals
HP:0020268 Compressed lymph-node sinuses
HP:6000172 Tympanic membrane bulging
HP:0020274 Lymph-node lymphocyte monocytoid morphology
HP:0430089 Anti-schistosoma antibody positivity
HP:0430065 Anti-babesia-specific antibody positivity
HP:0430058 Anti-herpes simplex antibody positivity
HP:6000193 Anti-osteoprotegerin antibody positivity
HP:6000208 Elevated CSF 5-hydroxymethyluracil concentration
HP:6000178 Purulent drainage from Stensen duct
HP:6000200 Reduced hepatic glucose-6-phosphatase activity
HP:0430073 Decreased circulating beta-carotene concentration
HP:6000181 History of radiation therapy
HP:0020286 Increased lymph node lymphocyte cytoplasm
HP:0020255 Abnormal lymph-node germinal center morphology
HP:0020258 Germinal centers with absent marginal zones
HP:6000231 Abnormal tissue enzyme activity
HP:0020245 Crowded lymph-node follicles
HP:0430079 Anti-mycoplasma antibody positivity
HP:6000207 Elevated CSF thymine concentration
HP:6000230 Decreased muscle caveolin-3 level
HP:0020266 Hyalinized lymph-node vessels
HP:0430096 CD23 expression
HP:0020247 Non-polarized lymph node germinal centers
HP:6000216 Reduced HMG-CoA lyase activity in cultured fibroblasts
HP:6000192 Silica dust exposure
HP:6000183 Thickened tympanic membrane
HP:0020234 Altered lymph-node tissue architecture
HP:0430048 Intracranial calcification
HP:0020292 Decreased lymph-node cellular CD20 expression
HP:6000174 Lateral neck mass
HP:0430053 Anti-West Nile virus antibody positivity
HP:6000189 Decreased circulating ficolin 3 concentration
HP:0430085 Anti-varicella-zoster antibody positivity
HP:0430097 CD38 expression
HP:6000187 Anti-thrombospondin type I domain-containing 7A antibody positivity
HP:6000195 Elevated mitochondrial citrate synthase synthase activity
HP:6000176 Anterior neck swelling
HP:0430054 Anti-microfilaria antibody positivity
HP:6000264 Fetal tachycardia
HP:6000196 Reduced muscle lactate dehydrogenase activity
HP:6000206 Reduced CSF pyridoxal-5'-phosphate concentration
HP:6000251 Small intestinal intraepithelial lymphocytosis
HP:0430090 Anti-Powassan virus antibody positivity
HP:6000242 Decreased circulating complement component 1s concentration
HP:6000246 Elevated CSF D-2-hydroxyglutaric acid concentration
HP:0020254 Lymph node with poorly defined germinal center borders
HP:6000237 Elevated circulating 3-hydroxybutyryl-carnitine concentration
HP:0430083 Anti-arbovirus antibody positivity
HP:6000228 Failure to increase oxygen saturation on hyperoxia test
HP:0020285 Decreased lymph node lymphocyte cytoplasm
HP:6000265 Elevated urinary 3-hydroxykynurenine level
HP:6000262 Pseudoglioma
HP:0430064 Anti-Epstein-Barr virus-specific antibody positivity
HP:6000217 Reduced circulating acyl-CoA oxidase activity
HP:6000263 Papillary dermal edema
HP:6000258 Impaired folate absorption
HP:6000218 Reduced circulating xanthine oxidase activity
HP:6000211 Elevated CSF dihydrouracil concentration
HP:6000236 Iappropriately low concentration of beta-hydroxybutyrate
HP:0020239 Increased lymph-node epithelioid histiocyte count
HP:0020241 Clustered lymph node epithelioid histiocytes
HP:6000175 Occipital location
HP:0020246 Lymph-node follicular lysis
HP:6000198 Reduced muscle phosphorylase kinase activity
HP:0430061 Positive bloodstream antibacterial antibody positivity
HP:0020289 Abnormal level of lymph-node cellular CD20 expression
HP:0020273 High lymph node non-germinal center mitotic activity
HP:0430080 Anti-rickettsial antibody positivity
HP:6000212 Elevated CSF dihydrothymine concentration
HP:6000256 Pneumocystis cysts in respiratory secretions
HP:6000247 Esophageal mass
HP:0020271 Increased lymph-node eosinophils
HP:6000268 Elevated circulating pipecolic acid concentration
HP:6000229 High-set nipples
HP:6000259 Positive hydrogen breath test
HP:6000188 Antisperm antibody positivity
HP:0020250 Abnormal lymph node marginal zone morphology
HP:6000253 Necrotizing vasculitis
HP:0430055 Anti-trypanosoma cruzi antibody positivity
HP:6000186 Anti-soluble liver antigen/liver pancreas antibody positivity
HP:0430087 Anti-cytomegalovirus antibody positivity
HP:0430068 Positive microfilaria PCR test in the blood circulation
HP:0020228 Biospecimen phenotypic feature
HP:6000238 Elevated CSF 5-amino-4-imidazolecarboxyamide concentration
HP:0020262 Progressive transformation of germinal centers
HP:6000271 Elevated circulating glycylproline concentration
HP:0430071 Abnormal circulating organic compound concentration
HP:6000179 History of gastric bypass surgery
HP:0430095 CD10 expression
HP:0430101 CD19 expression
HP:0430094 CD5 expression
HP:0430084 Anti-lymphocytic choriomeningitis antibody positivity
HP:0020261 Poorly defined primary lymph-node follicles
HP:0430075 Mammary blocked duct
HP:0020229 Abnormal lymph-node biospecimen
HP:0020288 Abnormal lymph-node cellular B-cell marker expression
HP:6000184 Filum terminale lipoma
HP:0020287 Abnormal level of lymph-node cellular CD19 expression
HP:0020265 Non-polarized mantle zones
HP:6000190 Abnormal seminal vesicle morphology
HP:6000232 Splenic necrosis
HP:6000182 Absent otoacoustic emissions
HP:0020257 Mantle zone pattern
HP:0020291 Increased lymph-node cellular CD20 expression
HP:6000210 Elevated CSF N-carbamyl-beta-alanine concentration
HP:6000233 Carcinoid tumor of the pancreas
HP:6000214 Decreased 3-hydroxyisobutyrate dehydrogenase activity
HP:6000235 Inappropriately low concentration of acetoacetate
HP:0020279 Irregular lymph-node lymphocyte nuclei
HP:6000224 Delayed passage of meconium
HP:6000221 Positive stool occult blood test
HP:6000240 Reduced circulating pyrimidine 5-prime-nucleotidase activity
HP:0430050 Anti-thyroid antibody positivity
HP:6000215 Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity
HP:0020280 Lymph-node Dutcher bodies
HP:0020238 Lymph-node extracapsular extension by lymph-node lymphocytes
HP:0430100 FMC7 expression
HP:6000244 Decreased circulating thyroglobulin concentration
HP:6000194 History of adrenalectomy
HP:6000267 Elevated circulating methionine sulfoxide concentration
HP:6000245 Elevated circulating granulocyte-macrophage colony-stimulating factor concentration
HP:0020237 Lymph-node capsular invasion by lymphocytes
HP:6000250 Gastric intraepithelial lymphocytosis
HP:6000226 Elevated aortic transvalvular pressure gradient
HP:0020290 CD79a expression
HP:0020251 Abnormal lymph node mantle zone morphology
HP:6000209 Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration
HP:6000225 Single second heart sound
HP:0430072 Abnormal circulating beta-carotene concentration
HP:0020267 Lymph-node follicular sclerosis
HP:6000270 Elevated CSF saccharopine concentration
HP:0020253 Lymph node with expanded mantle zones
HP:0020263 Absent germinal center tingible body macrophages
HP:6000255 Demonstration of Leishmania in tissue
HP:0430074 Increased circulating beta-carotene concentration
HP:0430069 Positive JC-virus PCR test in the blood circulation
HP:6000269 Elevated urinary pipecolic acid level
Synonyms Removed
ID Label Removed Synonym
HP:0006544 Extrapulmonary lobar sequestration Extrapulmonary sequestrum
HP:0006544 Extrapulmonary lobar sequestration Extralobar sequestration
HP:0100506 Decreased circulating vitamin B8 concentration Low levels of vitamin B8
HP:0011892 Decreased circulating vitamin K concentration Low levels of vitamin K
HP:5200294 Sexsomnia Sexual behaviour during sleep
HP:0030764 Ochronosis Ochronotic arthritis
HP:0008326 Reduced circulating vitamin B6 circulating Reduced circulating vitamin B6 level
HP:0100503 Decreased circulating vitamin B1 concentration Low levels of vitamin B1
HP:0001385 Hip dysplasia DDH
HP:0001385 Hip dysplasia Developmental dysplasia of the hip
HP:0032477 Elevated circulating vitamin B6 concentration Elevated circulating vitamin B6 level
HP:0100505 Decreased circulating vitamin B5 concentration Low levels of vitamin B5
HP:0006767 Pituitary prolactin cell adenoma Prolactinoma
HP:0040090 Abnormal tympanic membrane morphology Abnormality of the tympanic membrane
HP:0034836 Cystic nephroma Multilocular cystic renal tumour
HP:0410075 Increased CSF xylitol concentration Increased level of xylitol in CSF
HP:0001302 Pachygyria Macrogyria
HP:0025483 Abnormal circulating thyroglobulin concentration Abnormal circulating thyroglobulin level
HP:0100510 Decreased circulating vitamin C concentration Low levels of vitamin C
HP:0025379 Anti-thyroid peroxidase antibody positivity Antimicrosomal antibodies
HP:0025379 Anti-thyroid peroxidase antibody positivity Antimicrosomal antibody positivity
HP:0410058 Increased CSF D-threitol concentration Increased level of D-threitol in CSF
HP:0011497 Rubeosis iridis Iris neovascularization
HP:0003223 Decreased circulating methylcobalamin concentration Decreased methylcobalamin
HP:0002151 Increased circulating lactate concentration Increased serum lactate
HP:0100632 Pulmonary sequestration Bronchopulmonary sequestration
HP:0032230 Cytoplasmic antineutrophil antibody positivity C-ANCA antibodies
HP:0032230 Cytoplasmic antineutrophil antibody positivity Cytoplasmic antineutrophil cytoplasmic antibodies
HP:0034756 Fetal exposure history Foetal medication or drug exposure
HP:0034189 Anti-thyroid-stimulating hormone receptor antibody positivity Anti-thyrotropin receptor antibody
HP:0009920 Nevus of Ota Mongolian spot
HP:0009920 Nevus of Ota Nevus of Ito
HP:0010943 Echogenic fetal bowel Hyperechogenic foetal bowel
HP:0000372 Abnormal auditory canal morphology Abnormality of the auditory canal
HP:0040126 Abnormal circulating vitamin B12 concentration Abnormal vitamin B12 level
HP:0011111 Abnormal immune serum protein physiology Abnormality of immune serum protein physiology
HP:0410073 Increased CSF ribose concentration Increased level of ribose in CSF
HP:0009755 Ankyloblepharon Fused eyelid
HP:0034565 Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level Elevated urinary AICA-riboside level
HP:0033359 Hyperosthenuria Elevated urine osmolarity
HP:0033359 Hyperosthenuria Elevated urine osmolality
HP:5200332 Addictive non-substance behaviors Addiction to a behaviour
HP:0004942 Aortic aneurysm Enlarged aorta
HP:0500005 Anal pain Proctalgia
HP:0500005 Anal pain Anorectal pain
HP:0100512 Decreased circulating vitamin D concentration Low levels of vitamin D
HP:0032476 Abnormal circulating vitamin B6 concentration Abnormal circulating vitamin B6 level
HP:5200291 Sleep enactment Rapid eye movement sleep behaviour disorder
HP:5200291 Sleep enactment REM sleep behaviour disorder
HP:0025484 Increased circulating thyroglobulin concentration Increased circulating thyroglobulin level
HP:0007544 Piebald skin depigmentation Piebaldism
HP:6000087 Penile swelling Penile oedema
HP:0002616 Aortic root aneurysm Enlarged aortic root
HP:0009380 Finger aplasia Hand oligodactyly
HP:0009380 Finger aplasia Aplasia of the fingers
HP:0009380 Finger aplasia Hand has less than 5 fingers
HP:0410156 Increased level of N-acetylneuraminic acid in urine Increased urinary sialic acid
HP:0003262 Anti-smooth muscle antibody positivity Smooth muscle antibody positivity
HP:0011278 Intrapulmonary lobar sequestration Intralobar sequestration
HP:0011278 Intrapulmonary lobar sequestration Intrapulmonary sequestration
HP:0033917 Arcuate intimal/medial venulitis Medial/intimal arcuate venulitis
HP:5200212 Increased social interactions Amplified socializing, enhanced social interactions, overattentive behaviour
HP:0032025 Reduced circulating alpha-1-antitrypsin concentration Reduced serum alpha-1-antitrypsin
HP:0100504 Decreased circulating vitamin B2 concentration Low levels of vitamin B2
HP:0000356 Abnormality of the outer ear External ear malformation
Node Renamed
ID Old Label New Label
HP:0006544 Extrapulmonary lobar sequestration Extrapulmonary sequestrum
HP:0100506 Decreased circulating vitamin B8 concentration Low levels of vitamin B8
HP:0011892 Decreased circulating vitamin K concentration Low levels of vitamin K
HP:0001180 obsolete Hand oligodactyly Hand oligodactyly
HP:0100502 Decreased circulating vitamin B12 concentration Vitamin B12 deficiency
HP:0008326 Reduced circulating vitamin B6 circulating Reduced circulating vitamin B6 level
HP:0100503 Decreased circulating vitamin B1 concentration Low levels of vitamin B1
HP:0032477 Elevated circulating vitamin B6 concentration Elevated circulating vitamin B6 level
HP:0007227 obsolete Macrogyria Macrogyria
HP:0100505 Decreased circulating vitamin B5 concentration Low levels of vitamin B5
HP:0040090 Abnormal tympanic membrane morphology Abnormality of the tympanic membrane
HP:0410075 Increased CSF xylitol concentration Increased level of xylitol in CSF
HP:0008572 obsolete External ear malformation External ear malformation
HP:0025483 Abnormal circulating thyroglobulin concentration Abnormal circulating thyroglobulin level
HP:0100510 Decreased circulating vitamin C concentration Low levels of vitamin C
HP:0040278 obsolete Prolactinoma Prolactinoma
HP:0410058 Increased CSF D-threitol concentration Increased level of D-threitol in CSF
HP:0011497 Rubeosis iridis Iris neovascularization
HP:0034041 obsolete Ventricular ectopy Ventricular ectopy
HP:0010960 obsolete Bronchopulmonary sequestration Bronchopulmonary sequestration
HP:0003223 Decreased circulating methylcobalamin concentration Decreased methylcobalamin
HP:0002151 Increased circulating lactate concentration Increased serum lactate
HP:6000117 obsolete Elevated urinary AICA-riboside level Elevated urinary AICA-riboside level
HP:0410071 Increased CSF ribitol concentration Increased level of ribitol in CSF
HP:0010961 obsolete Intralobar sequestration Intralobar sequestration
HP:0000372 Abnormal auditory canal morphology Abnormality of the auditory canal
HP:0040126 Abnormal circulating vitamin B12 concentration Abnormal vitamin B12 level
HP:4000080 obsolete 4000080 Obsolete 4000080
HP:0011111 Abnormal immune serum protein physiology Abnormality of immune serum protein physiology
HP:0410073 Increased CSF ribose concentration Increased level of ribose in CSF
HP:0025319 obsolete Rubeosis iridis Rubeosis iridis
HP:0010962 obsolete Extralobar sequestration Extralobar sequestration
HP:0100512 Decreased circulating vitamin D concentration Low levels of vitamin D
HP:0032476 Abnormal circulating vitamin B6 concentration Abnormal circulating vitamin B6 level
HP:0025484 Increased circulating thyroglobulin concentration Increased circulating thyroglobulin level
HP:0040268 obsolete Recurrent infections of the middle ear Recurrent infections of the middle ear
HP:0000964 Eczematoid dermatitis Eczema
HP:0007544 Piebald skin depigmentation Piebaldism
HP:0001163 obsolete Abnormality of the metacarpal bones Abnormality of the metacarpal bones
HP:0009380 Finger aplasia Aplasia of the fingers
HP:0003262 Anti-smooth muscle antibody positivity Smooth muscle antibody positivity
HP:0033919 obsolete Medial/intimal arcuate venulitis Medial/intimal arcuate venulitis
HP:0034116 obsolete Anti-thyrotropin receptor antibody Anti-thyrotropin receptor antibody
HP:0003116 obsolete Abnormal echocardiogram Abnormal echocardiogram
HP:0011278 Intrapulmonary lobar sequestration Intrapulmonary sequestration
HP:0000976 obsolete Eczematoid dermatitis Eczematoid dermatitis
HP:0032025 Reduced circulating alpha-1-antitrypsin concentration Reduced serum alpha-1-antitrypsin
HP:0003145 Decreased circulating adenosylcobalamin concentration Decreased adenosylcobalamin
HP:0100504 Decreased circulating vitamin B2 concentration Low levels of vitamin B2
Edges Deleted
Subject ID Subject Label Predicate ID Predicate Label Object ID Object Label
HP:0033405 Abnormal circulating organic amino compound concentration rdfs:subClassOf subClassOf HP:0430071 Abnormal circulating organic compound concentration
HP:6000015 Tympanic membrane hypermobility rdfs:subClassOf subClassOf HP:0031704 Abnormal ear physiology
HP:0011013 Abnormal circulating carbohydrate concentration rdfs:subClassOf subClassOf HP:0430071 Abnormal circulating organic compound concentration
HP:0003119 Abnormal circulating lipid concentration rdfs:subClassOf subClassOf HP:0430071 Abnormal circulating organic compound concentration
HP:0002514 Cerebral calcification rdfs:subClassOf subClassOf HP:0430048 Intracranial calcification
HP:0034039 Ventricular couplet rdfs:subClassOf subClassOf HP:0006682 Premature ventricular contraction
HP:0025379 Anti-thyroid peroxidase antibody positivity rdfs:subClassOf subClassOf HP:0430050 Anti-thyroid antibody positivity
HP:0004058 Hand monodactyly rdfs:subClassOf subClassOf HP:0009380 Finger aplasia
HP:0000388 Otitis media rdfs:subClassOf subClassOf HP:0008609 Abnormal middle ear morphology
HP:0004354 Abnormal circulating carboxylic acid concentration rdfs:subClassOf subClassOf HP:0430071 Abnormal circulating organic compound concentration
HP:0012113 Abnormal circulating creatine concentration rdfs:subClassOf subClassOf HP:0430071 Abnormal circulating organic compound concentration
HP:0032069 Anti-thyroglobulin antibody positivity rdfs:subClassOf subClassOf HP:0430050 Anti-thyroid antibody positivity
HP:0006210 Postaxial oligodactyly rdfs:subClassOf subClassOf HP:0009380 Finger aplasia
HP:0034189 Anti-thyroid-stimulating hormone receptor antibody positivity rdfs:subClassOf subClassOf HP:0430050 Anti-thyroid antibody positivity
HP:0100250 Meningeal calcification rdfs:subClassOf subClassOf HP:0430048 Intracranial calcification
HP:0034616 Abnormal circulating coenzyme concentration rdfs:subClassOf subClassOf HP:0430071 Abnormal circulating organic compound concentration
HP:0500180 Abnormal circulating amino sulfonic acid concentration rdfs:subClassOf subClassOf HP:0430071 Abnormal circulating organic compound concentration
HP:0010472 Abnormal circulating porphyrin concentration rdfs:subClassOf subClassOf HP:0430071 Abnormal circulating organic compound concentration
HP:0010513 Pituitary calcification rdfs:subClassOf subClassOf HP:0430048 Intracranial calcification
HP:0006960 Choroid plexus calcification rdfs:subClassOf subClassOf HP:0430048 Intracranial calcification
HP:0034889 Positive urine infectious agent nucleid acid test rdfs:subClassOf subClassOf HP:0430030 Positive infectious agent test
HP:0006230 Unilateral oligodactyly rdfs:subClassOf subClassOf HP:0009380 Finger aplasia
HP:0001374 Congenital hip dislocation rdfs:subClassOf subClassOf HP:0001385 Hip dysplasia
HP:0040262 Glue ear rdfs:subClassOf subClassOf HP:0000388 Otitis media
HP:0004364 Abnormal circulating nitrogen compound concentration rdfs:subClassOf subClassOf HP:0430071 Abnormal circulating organic compound concentration
HP:0034866 Positive stool infectious agent test rdfs:subClassOf subClassOf HP:0430030 Positive infectious agent test
HP:0004053 Dysharmonic maturation of the hand bones rdfs:subClassOf subClassOf HP:0200000 Dysharmonic bone age
HP:0033386 Abnormal circulating collagen degradation product concentration rdfs:subClassOf subClassOf HP:0430071 Abnormal circulating organic compound concentration
HP:0031903 Abnormal circulating selenium concentration rdfs:subClassOf subClassOf HP:0430071 Abnormal circulating organic compound concentration
Nodes Moved
Subject_id Subject_label Predicate_id Object_id Object_label
HP:0033405 Abnormal circulating organic amino compound concentration rdfs:subClassOf subClassOf HP:0032180
HP:0001180 obsolete Hand oligodactyly rdfs:subClassOf subClassOf HP:0012165
HP:0001180 obsolete Hand oligodactyly rdfs:subClassOf subClassOf HP:0009380
HP:6000015 Tympanic membrane hypermobility rdfs:subClassOf subClassOf HP:0040090
HP:0011013 Abnormal circulating carbohydrate concentration rdfs:subClassOf subClassOf HP:0032180
HP:0007227 obsolete Macrogyria rdfs:subClassOf subClassOf HP:0002536
HP:0003119 Abnormal circulating lipid concentration rdfs:subClassOf subClassOf HP:0032180
HP:0002514 Cerebral calcification rdfs:subClassOf subClassOf HP:0010766
HP:0008572 obsolete External ear malformation rdfs:subClassOf subClassOf HP:0000377
HP:0034039 Ventricular couplet rdfs:subClassOf subClassOf HP:0034041
HP:0025379 Anti-thyroid peroxidase antibody positivity rdfs:subClassOf subClassOf HP:0030057
HP:0040278 obsolete Prolactinoma rdfs:subClassOf subClassOf HP:0012503
HP:0004058 Hand monodactyly rdfs:subClassOf subClassOf HP:0001180
HP:0000388 Otitis media rdfs:subClassOf subClassOf HP:0000370
HP:0034041 obsolete Ventricular ectopy rdfs:subClassOf subClassOf HP:0006682
HP:0010960 obsolete Bronchopulmonary sequestration rdfs:subClassOf subClassOf HP:4000059
HP:0004354 Abnormal circulating carboxylic acid concentration rdfs:subClassOf subClassOf HP:0032180
HP:0012113 Abnormal circulating creatine concentration rdfs:subClassOf subClassOf HP:0032180
HP:0032069 Anti-thyroglobulin antibody positivity rdfs:subClassOf subClassOf HP:0030057
HP:0006210 Postaxial oligodactyly rdfs:subClassOf subClassOf HP:0001180
HP:6000117 obsolete Elevated urinary AICA-riboside level rdfs:subClassOf subClassOf HP:0033354
HP:0034189 Anti-thyroid-stimulating hormone receptor antibody positivity rdfs:subClassOf subClassOf HP:0030057
HP:0100250 Meningeal calcification rdfs:subClassOf subClassOf HP:0002514
HP:0034616 Abnormal circulating coenzyme concentration rdfs:subClassOf subClassOf HP:0032180
HP:0010961 obsolete Intralobar sequestration rdfs:subClassOf subClassOf HP:0010960
HP:0500180 Abnormal circulating amino sulfonic acid concentration rdfs:subClassOf subClassOf HP:0032180
HP:0010472 Abnormal circulating porphyrin concentration rdfs:subClassOf subClassOf HP:0032180
HP:0010513 Pituitary calcification rdfs:subClassOf subClassOf HP:0002514
HP:0006960 Choroid plexus calcification rdfs:subClassOf subClassOf HP:0002514
HP:0025319 obsolete Rubeosis iridis rdfs:subClassOf subClassOf HP:0007905
HP:0010962 obsolete Extralobar sequestration rdfs:subClassOf subClassOf HP:0010960
HP:0040268 obsolete Recurrent infections of the middle ear rdfs:subClassOf subClassOf HP:0000370
HP:0040268 obsolete Recurrent infections of the middle ear rdfs:subClassOf subClassOf HP:0002719
HP:0006230 Unilateral oligodactyly rdfs:subClassOf subClassOf HP:0001180
HP:0040262 Glue ear rdfs:subClassOf subClassOf HP:0000370
HP:0033919 obsolete Medial/intimal arcuate venulitis rdfs:subClassOf subClassOf HP:0033879
HP:0034116 obsolete Anti-thyrotropin receptor antibody rdfs:subClassOf subClassOf HP:0030057
HP:0004364 Abnormal circulating nitrogen compound concentration rdfs:subClassOf subClassOf HP:0032180
HP:0000976 obsolete Eczematoid dermatitis rdfs:subClassOf subClassOf HP:0000964
HP:0033386 Abnormal circulating collagen degradation product concentration rdfs:subClassOf subClassOf HP:0032180
HP:0031903 Abnormal circulating selenium concentration rdfs:subClassOf subClassOf HP:0032180
Node Text Definition Changed
ID Label Old Text Definition New Text Definition
HP:0100506 Decreased circulating vitamin B8 concentration The concentration of vitamin B8 in the blood circulation is below the lower limit of normal. A reduced concentration of vitamin B8.
HP:0011892 Decreased circulating vitamin K concentration The concentration of vitamin K in the blood circulation is below the lower limit of normal. A reduced concentration of vitamin K.
HP:0100503 Decreased circulating vitamin B1 concentration The concentration of vitamin B1 in the blood circulation is below the lower limit of normal. A reduced concentration of vitamin B1.
HP:0030208 Anti-acetylcholine receptor antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury. The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury.
HP:0100505 Decreased circulating vitamin B5 concentration The concentration of vitamin B5 in the blood circulation is below the lower limit of normal. A reduced concentration of vitamin B5.
HP:0040090 Abnormal tympanic membrane morphology Any structural abnormality of the tympanic membrane An abnormality of the tympanic membrane
HP:0410075 Increased CSF xylitol concentration The concentration of xylitol in the cerebrospinal fluid is above the upper limit of normal. An increase in the level of xylitol in the cerebrospinal fluid.
HP:0002514 Cerebral calcification The presence of calcium deposition within the cerebrum. The presence of calcium deposition within brain structures.
HP:0100510 Decreased circulating vitamin C concentration The concentration of vitamin C in the blood circulation is below the lower limit of normal. A reduced concentration of Vitamin C.
HP:0005849 Diffuse cerebral calcification Generalized deposition of calcium salts within the cerebrum. Generalized deposition of calcium salts within the brain.
HP:0410058 Increased CSF D-threitol concentration The concentration of D-threitol in the cerebrospinal fluid is above the upper limit of normal. An increase in the level of D-threitol in the cerebrospinal fluid.
HP:0011497 Rubeosis iridis Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification. New growth of vessels on the surface of the iris.
HP:0003223 Decreased circulating methylcobalamin concentration The concentration of methylcobalamin in the blood circulation is below the lower limit of normal. Methylcobalamin is a form of vitamin B12. Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12.
HP:0410071 Increased CSF ribitol concentration The concentration of ribitol in the cerebrospinal fluid is above the upper limit of normal. An increase in the level of ribitol in the cerebral spinal fluid.
HP:0000372 Abnormal auditory canal morphology Any structural abnormality of the external acoustic tube (also known as the auditory canal). An abnormality of the External acoustic tube (also known as the auditory canal).
HP:0410073 Increased CSF ribose concentration The concentration of ribose in the cerebrospinal fluid is above the upper limit of normal. An increase in the level of ribose in the cerebrospinal fluid.
HP:0034690 Reduced short-chain acyl-CoA dehydrogenase activity Diminished activity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyses the first step in mitochondrial beta-oxidation of fatty acids. Diminished activbity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyses the first step in mitochondrial beta-oxidation of fatty acids.
HP:0100512 Decreased circulating vitamin D concentration The concentration of vitamin D in the blood circulation is below the lower limit of normal. A reduced concentration of Vitamin D.
HP:0000964 Eczematoid dermatitis Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.
HP:0007544 Piebald skin depigmentation Congenital large depigmented (white) macule of irergular rhomboid shape. Piebald skin depigmentation generally presents with multiple such macules in the affected individual. There may be smaller (5-15mm), discrete, skin-colored and hyperpigmented macules interspersed within the depigmented macules. Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution.
HP:0009380 Finger aplasia A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers). Aplasia of one or more fingers.
HP:0033917 Arcuate intimal/medial venulitis Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural. Inflammation of arcuate veins of the kidney, which may involve only the intima or can be transmural.
HP:0005671 Bilateral intracerebral calcifications Deposition of calcium salts on both sides of the cerebrum. Deposition of calcium salts on both sides of the brain.
HP:0032025 Reduced circulating alpha-1-antitrypsin concentration A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs.
HP:0003145 Decreased circulating adenosylcobalamin concentration The concentration of adenosylcobalam in the blood circulation is below the lower limit of normal. Adenosylcobalamin is one of the active forms of vitamin B12. Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12.
HP:0100504 Decreased circulating vitamin B2 concentration The concentration of vitamin B2 in the blood circulation is below the lower limit of normal. A reduced concentration of vitamin B2.
Node Unobsoleted
ID Label
HP:0001180 obsolete Hand oligodactyly
HP:0007227 obsolete Macrogyria
HP:0008572 obsolete External ear malformation
HP:0040278 obsolete Prolactinoma
HP:0034041 obsolete Ventricular ectopy
HP:0010960 obsolete Bronchopulmonary sequestration
HP:6000117 obsolete Elevated urinary AICA-riboside level
HP:0010961 obsolete Intralobar sequestration
HP:0025319 obsolete Rubeosis iridis
HP:0010962 obsolete Extralobar sequestration
HP:0040268 obsolete Recurrent infections of the middle ear
HP:0033919 obsolete Medial/intimal arcuate venulitis
HP:0034116 obsolete Anti-thyrotropin receptor antibody
HP:0000976 obsolete Eczematoid dermatitis
New Synonyms Added
ID Label New Synonym
HP:0001180 obsolete Hand oligodactyly Hand has less than 5 fingers
HP:0002514 Cerebral calcification Brain calcification
HP:0002514 Cerebral calcification Intracerebral calcifications
HP:0002514 Cerebral calcification Intracranial calcifications
HP:0002514 Cerebral calcification Intracranial calcification
HP:0008572 obsolete External ear malformation External ear malformation
HP:0100814 Blue nevus Mongolian spot
HP:0002655 Spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia tarda

@matentzn
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@hrshdhgd I know this is super annoying but can you:

  1. do the diff the other way around (there is never Nodes deleted, only ever Nodes added!)
  1. Copy paste all the results in a Google docs and share it with me for comments?

Thanks a ton, this is a very important thing to get right, and therefore I need a better way to provide feedback than what GitHub can give me now.

@hrshdhgd
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hrshdhgd commented Feb 19, 2024 •
edited
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https://docs.google.com/document/d/1NsGh-rwIgxkazSEMe3YRNI7lJWZbxAomMsvS1RmdlOQ/edit?usp=sharing

@matentzn
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replaced your doc by https://docs.google.com/document/d/1ipDbH4OdhRYUPNHsnwI8uDc1BbXomOBOhxxktqvukFk/edit

@hrshdhgd
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New format

Class Created: 222
ID Label
HP:6000266 2-oxoadipic aciduria
HP:0020286 Increased lymph node lymphocyte cytoplasm
HP:6000259 Positive hydrogen breath test
HP:0020242 Abnormal lymph-node follicle architecture
HP:6000233 Carcinoid tumor of the pancreas
HP:6000229 High-set nipples
HP:0020234 Altered lymph-node tissue architecture
HP:0430100 FMC7 expression
HP:0430089 Anti-schistosoma antibody positivity
HP:0430097 CD38 expression
HP:6000208 Elevated CSF 5-hydroxymethyluracil concentration
HP:0020243 Floral-pattern lymph node follicles
HP:6000245 Elevated circulating granulocyte-macrophage colony-stimulating factor concentration
HP:0430090 Anti-Powassan virus antibody positivity
HP:6000227 Prosthetic heart valve
HP:0020255 Abnormal lymph-node germinal center morphology
HP:6000191 Seminal vesicle cyst
HP:0430056 Anti-chikungunya virus antibody positivity
HP:6000241 Diminished prolactin response to thyrotrophin-releasing hormone stimulation
HP:6000178 Purulent drainage from Stensen duct
HP:6000254 Abnormal proximal convoluted tubule morphology
HP:6000246 Elevated CSF D-2-hydroxyglutaric acid concentration
HP:0020264 Lack of germinal center mitotic figures
HP:6000217 Reduced circulating acyl-CoA oxidase activity
HP:0020294 Increased lymph-node cellular CD19 expression
HP:6000198 Reduced muscle phosphorylase kinase activity
HP:6000181 History of radiation therapy
HP:6000185 Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio
HP:0430076 Positive bloodstream antifungal antibody positivity
HP:0430081 Anti-Bartonella henselae antibody positivity
HP:0020284 Abnormal lymph-node lymphocyte cytoplasm morphology
HP:0430048 Intracranial calcification
HP:6000204 Elevated CSF apolipoprotein B concentration
HP:6000268 Elevated circulating pipecolic acid concentration
HP:6000234 Elevated circulating dihydroxyphenylacetic acid concentration
HP:6000214 Decreased 3-hydroxyisobutyrate dehydrogenase activity
HP:6000202 Cerebrospinal fluid erythrocytes
HP:6000252 Fetal lung hyperechogenicity
HP:0020280 Lymph-node Dutcher bodies
HP:0020281 Finely dispersed lymph node lymphocyte chromatin
HP:0020257 Mantle zone pattern
HP:0020285 Decreased lymph node lymphocyte cytoplasm
HP:0020233 Abnormal lymph-node cellular antigen expression
HP:6000231 Abnormal tissue enzyme activity
HP:0430058 Anti-herpes simplex antibody positivity
HP:6000218 Reduced circulating xanthine oxidase activity
HP:0430079 Anti-mycoplasma antibody positivity
HP:6000179 History of gastric bypass surgery
HP:6000172 Tympanic membrane bulging
HP:0020266 Hyalinized lymph-node vessels
HP:6000258 Impaired folate absorption
HP:6000174 Lateral neck mass
HP:6000186 Anti-soluble liver antigen/liver pancreas antibody positivity
HP:0020287 Abnormal level of lymph-node cellular CD19 expression
HP:0430055 Anti-trypanosoma cruzi antibody positivity
HP:6000206 Reduced CSF pyridoxal-5'-phosphate concentration
HP:6000187 Anti-thrombospondin type I domain-containing 7A antibody positivity
HP:0020279 Irregular lymph-node lymphocyte nuclei
HP:0430085 Anti-varicella-zoster antibody positivity
HP:0430095 CD10 expression
HP:6000240 Reduced circulating pyrimidine 5-prime-nucleotidase activity
HP:0020240 Scattered lymph node individual epithelioid histiocytes
HP:0020273 High lymph node non-germinal center mitotic activity
HP:0430053 Anti-West Nile virus antibody positivity
HP:0020250 Abnormal lymph node marginal zone morphology
HP:0430083 Anti-arbovirus antibody positivity
HP:6000197 Reduced muscle phosphoglycerate mutase activity
HP:0020238 Lymph-node extracapsular extension by lymph-node lymphocytes
HP:0020251 Abnormal lymph node mantle zone morphology
HP:6000220 Pharyngeal mass
HP:6000230 Decreased muscle caveolin-3 level
HP:0020241 Clustered lymph node epithelioid histiocytes
HP:6000175 Occipital location
HP:6000184 Filum terminale lipoma
HP:0020261 Poorly defined primary lymph-node follicles
HP:6000255 Demonstration of Leishmania in tissue
HP:0430086 Anti-rubella antibody positivity
HP:0430063 Anti-chlamydia trachomatis-specific antibody positivity
HP:0430061 Positive bloodstream antibacterial antibody positivity
HP:6000177 Uvular swelling
HP:0020282 Abnormal lymph-node lymphocyte chromatin
HP:0020228 Biospecimen phenotypic feature
HP:6000201 Reduced hepatic glucose-6-phosphate translocase activity
HP:0430064 Anti-Epstein-Barr virus-specific antibody positivity
HP:6000205 Elevated CSF myelin basic protein concentration
HP:0430098 CD45 expression
HP:0430084 Anti-lymphocytic choriomeningitis antibody positivity
HP:0020254 Lymph node with poorly defined germinal center borders
HP:6000211 Elevated CSF dihydrouracil concentration
HP:0430082 Anti-Dengue virus antibody positivity
HP:6000213 Elevated circulating Angiotensin-converting enzyme concentration
HP:0020269 Lymph-node proliferation centers
HP:6000207 Elevated CSF thymine concentration
HP:0430074 Increased circulating beta-carotene concentration
HP:0430080 Anti-rickettsial antibody positivity
HP:0020253 Lymph node with expanded mantle zones
HP:0430060 Positive bloodstream parasite-specific antibody positivity
HP:6000261 Absent circulating immunoglobulin kappa chain
HP:0020249 Abnormal lymph-node marginal or mantle zone morphology
HP:6000188 Antisperm antibody positivity
HP:0020277 Hodgkin morphology cells
HP:6000236 Iappropriately low concentration of beta-hydroxybutyrate
HP:6000247 Esophageal mass
HP:0430057 Anti-chlamydia psittaci antibody positivity
HP:0020270 Cytologic atypia in mantle cells
HP:0430059 Positive bloodstream virus-specific antibody positivity
HP:6000189 Decreased circulating ficolin 3 concentration
HP:6000212 Elevated CSF dihydrothymine concentration
HP:0430065 Anti-babesia-specific antibody positivity
HP:6000263 Papillary dermal edema
HP:0430075 Mammary blocked duct
HP:0020276 Increased large lymphocytes in lymph node
HP:0430051 Positive bloodstream pathogen-specific antibody positivity
HP:6000250 Gastric intraepithelial lymphocytosis
HP:6000248 Synovial fluid crystals
HP:6000273 Elevated circulating decanoylcarnitine concentration
HP:0430102 CD20 expression
HP:6000194 History of adrenalectomy
HP:0020296 Germinal center B-lymphocyte BCL2 expression
HP:6000203 Elevated CSF cholestanol concentration
HP:6000237 Elevated circulating 3-hydroxybutyryl-carnitine concentration
HP:6000270 Elevated CSF saccharopine concentration
HP:0020237 Lymph-node capsular invasion by lymphocytes
HP:0020235 Effaced lymph-node architecture
HP:0020230 Abnormal lymph-node tissue architecture
HP:0020283 Clumping of lymph node lymphocyte chromatin
HP:0020293 Decreased lymph-node cellular CD19 expression
HP:6000232 Splenic necrosis
HP:0430062 Anti-Japanese encephalitis virus-specific antibody positivity
HP:0430066 Anti-Zikavirus-specific antibody positivity
HP:6000242 Decreased circulating complement component 1s concentration
HP:6000275 4-hydroxyphenyllactic aciduria
HP:6000253 Necrotizing vasculitis
HP:0430078 Anti-cryptococcal antibody positivity
HP:0430054 Anti-microfilaria antibody positivity
HP:0020265 Non-polarized mantle zones
HP:0020236 Vaguely nodular lymph-node architecture
HP:0020231 Abnormal lymph-node cellular finding
HP:6000265 Elevated urinary 3-hydroxykynurenine level
HP:0430093 BCL6 expression
HP:0430091 Marker expression
HP:6000216 Reduced HMG-CoA lyase activity in cultured fibroblasts
HP:0020263 Absent germinal center tingible body macrophages
HP:0020246 Lymph-node follicular lysis
HP:0430052 Anti-SARS-CoV-2 coronavirus antibody positivity
HP:6000269 Elevated urinary pipecolic acid level
HP:6000271 Elevated circulating glycylproline concentration
HP:0020271 Increased lymph-node eosinophils
HP:6000224 Delayed passage of meconium
HP:0430069 Positive JC-virus PCR test in the blood circulation
HP:6000180 Triggered by volatile organic compounds
HP:6000225 Single second heart sound
HP:6000210 Elevated CSF N-carbamyl-beta-alanine concentration
HP:0020258 Germinal centers with absent marginal zones
HP:6000260 History of recent plant thorn skin puncture
HP:6000228 Failure to increase oxygen saturation on hyperoxia test
HP:6000176 Anterior neck swelling
HP:0020245 Crowded lymph-node follicles
HP:6000256 Pneumocystis cysts in respiratory secretions
HP:0430067 Positive bloodstream nucleic acid pathogen test
HP:0020272 Increased lymph-node plasma cells
HP:6000199 Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts
HP:0020288 Abnormal lymph-node cellular B-cell marker expression
HP:0020292 Decreased lymph-node cellular CD20 expression
HP:0430073 Decreased circulating beta-carotene concentration
HP:6000235 Inappropriately low concentration of acetoacetate
HP:6000200 Reduced hepatic glucose-6-phosphatase activity
HP:6000249 Enlarged gastric folds
HP:0430092 BCL2 expression
HP:0020295 PAX5 expression
HP:0020268 Compressed lymph-node sinuses
HP:6000215 Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity
HP:0430070 Placenta previa
HP:0430087 Anti-cytomegalovirus antibody positivity
HP:6000272 Elevated circulating octanoylcarnitine concentration
HP:6000196 Reduced muscle lactate dehydrogenase activity
HP:0020278 Abnormal lymph-node lymphoctye nuclear morphology
HP:0020262 Progressive transformation of germinal centers
HP:0430101 CD19 expression
HP:0430077 Anti-coccidioidal antibody positivity
HP:0430068 Positive microfilaria PCR test in the blood circulation
HP:6000223 Recent history of caustic substance ingestion
HP:0430096 CD23 expression
HP:0430071 Abnormal circulating organic compound concentration
HP:0020291 Increased lymph-node cellular CD20 expression
HP:0020239 Increased lymph-node epithelioid histiocyte count
HP:6000209 Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration
HP:0430094 CD5 expression
HP:0020229 Abnormal lymph-node biospecimen
HP:6000193 Anti-osteoprotegerin antibody positivity
HP:0430099 Cyclin D1 expression
HP:0020247 Non-polarized lymph node germinal centers
HP:0020244 Colonization of follicles by lymphoma cells
HP:6000173 Ear pain exacerbated by manipulating tragus or pinna
HP:0020274 Lymph-node lymphocyte monocytoid morphology
HP:0020290 CD79a expression
HP:6000222 Painful defecation
HP:0430050 Anti-thyroid antibody positivity
HP:6000195 Elevated mitochondrial citrate synthase synthase activity
HP:6000221 Positive stool occult blood test
HP:6000267 Elevated circulating methionine sulfoxide concentration
HP:6000238 Elevated CSF 5-amino-4-imidazolecarboxyamide concentration
HP:6000192 Silica dust exposure
HP:6000182 Absent otoacoustic emissions
HP:0020275 Reduced lymph node lymphocyte morphological variability
HP:6000183 Thickened tympanic membrane
HP:6000190 Abnormal seminal vesicle morphology
HP:0020289 Abnormal level of lymph-node cellular CD20 expression
HP:0430072 Abnormal circulating beta-carotene concentration
HP:6000264 Fetal tachycardia
HP:0020267 Lymph-node follicular sclerosis
HP:6000251 Small intestinal intraepithelial lymphocytosis
HP:6000243 Reduced circulating cortisol-binding globulin concentration
HP:0020248 Irregularly shaped lymph node germinal centers
HP:6000262 Pseudoglioma
HP:6000257 Spinal cord granuloma
HP:6000219 Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts
HP:6000226 Elevated aortic transvalvular pressure gradient
HP:6000244 Decreased circulating thyroglobulin concentration
HP:6000239 Elevated circulating tumor necrosis factor alpha concentration
HP:6000274 2--hydroxyphenylacetic aciduria
HP:0430088 Anti-measles antibody positivity
Node Renamed: 49
ID Old Label New Label
HP:0100512 Low levels of vitamin D Decreased circulating vitamin D concentration
HP:0032025 Reduced serum alpha-1-antitrypsin Reduced circulating alpha-1-antitrypsin concentration
HP:0040126 Abnormal vitamin B12 level Abnormal circulating vitamin B12 concentration
HP:0011892 Low levels of vitamin K Decreased circulating vitamin K concentration
HP:0000976 Eczematoid dermatitis obsolete Eczematoid dermatitis
HP:0008326 Reduced circulating vitamin B6 level Reduced circulating vitamin B6 circulating
HP:0100504 Low levels of vitamin B2 Decreased circulating vitamin B2 concentration
HP:0003223 Decreased methylcobalamin Decreased circulating methylcobalamin concentration
HP:0025484 Increased circulating thyroglobulin level Increased circulating thyroglobulin concentration
HP:0010962 Extralobar sequestration obsolete Extralobar sequestration
HP:0100502 Vitamin B12 deficiency Decreased circulating vitamin B12 concentration
HP:0003262 Smooth muscle antibody positivity Anti-smooth muscle antibody positivity
HP:0034041 Ventricular ectopy obsolete Ventricular ectopy
HP:0032477 Elevated circulating vitamin B6 level Elevated circulating vitamin B6 concentration
HP:0100505 Low levels of vitamin B5 Decreased circulating vitamin B5 concentration
HP:0410073 Increased level of ribose in CSF Increased CSF ribose concentration
HP:0034116 Anti-thyrotropin receptor antibody obsolete Anti-thyrotropin receptor antibody
HP:0100503 Low levels of vitamin B1 Decreased circulating vitamin B1 concentration
HP:0040090 Abnormality of the tympanic membrane Abnormal tympanic membrane morphology
HP:0009380 Aplasia of the fingers Finger aplasia
HP:0040278 Prolactinoma obsolete Prolactinoma
HP:0001163 Abnormality of the metacarpal bones obsolete Abnormality of the metacarpal bones
HP:0008572 External ear malformation obsolete External ear malformation
HP:0100506 Low levels of vitamin B8 Decreased circulating vitamin B8 concentration
HP:0007544 Piebaldism Piebald skin depigmentation
HP:0010961 Intralobar sequestration obsolete Intralobar sequestration
HP:0410075 Increased level of xylitol in CSF Increased CSF xylitol concentration
HP:0010960 Bronchopulmonary sequestration obsolete Bronchopulmonary sequestration
HP:0000372 Abnormality of the auditory canal Abnormal auditory canal morphology
HP:0410058 Increased level of D-threitol in CSF Increased CSF D-threitol concentration
HP:0032476 Abnormal circulating vitamin B6 level Abnormal circulating vitamin B6 concentration
HP:0410071 Increased level of ribitol in CSF Increased CSF ribitol concentration
HP:0003145 Decreased adenosylcobalamin Decreased circulating adenosylcobalamin concentration
HP:0011111 Abnormality of immune serum protein physiology Abnormal immune serum protein physiology
HP:0001180 Hand oligodactyly obsolete Hand oligodactyly
HP:0033919 Medial/intimal arcuate venulitis obsolete Medial/intimal arcuate venulitis
HP:0006544 Extrapulmonary sequestrum Extrapulmonary lobar sequestration
HP:0000964 Eczema Eczematoid dermatitis
HP:6000117 Elevated urinary AICA-riboside level obsolete Elevated urinary AICA-riboside level
HP:4000080 Obsolete 4000080 obsolete 4000080
HP:0011497 Iris neovascularization Rubeosis iridis
HP:0011278 Intrapulmonary sequestration Intrapulmonary lobar sequestration
HP:0040268 Recurrent infections of the middle ear obsolete Recurrent infections of the middle ear
HP:0007227 Macrogyria obsolete Macrogyria
HP:0100510 Low levels of vitamin C Decreased circulating vitamin C concentration
HP:0025483 Abnormal circulating thyroglobulin level Abnormal circulating thyroglobulin concentration
HP:0025319 Rubeosis iridis obsolete Rubeosis iridis
HP:0002151 Increased serum lactate Increased circulating lactate concentration
HP:0003116 Abnormal echocardiogram obsolete Abnormal echocardiogram
Node Text Definition Changed: 26
ID Label Old Text Definition New Text Definition
HP:0100512 Decreased circulating vitamin D concentration A reduced concentration of Vitamin D. The concentration of vitamin D in the blood circulation is below the lower limit of normal.
HP:0032025 Reduced circulating alpha-1-antitrypsin concentration A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs.
HP:0011892 Decreased circulating vitamin K concentration A reduced concentration of vitamin K. The concentration of vitamin K in the blood circulation is below the lower limit of normal.
HP:0100504 Decreased circulating vitamin B2 concentration A reduced concentration of vitamin B2. The concentration of vitamin B2 in the blood circulation is below the lower limit of normal.
HP:0003223 Decreased circulating methylcobalamin concentration Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12. The concentration of methylcobalamin in the blood circulation is below the lower limit of normal. Methylcobalamin is a form of vitamin B12.
HP:0033917 Arcuate intimal/medial venulitis Inflammation of arcuate veins of the kidney, which may involve only the intima or can be transmural. Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural.
HP:0100505 Decreased circulating vitamin B5 concentration A reduced concentration of vitamin B5. The concentration of vitamin B5 in the blood circulation is below the lower limit of normal.
HP:0410073 Increased CSF ribose concentration An increase in the level of ribose in the cerebrospinal fluid. The concentration of ribose in the cerebrospinal fluid is above the upper limit of normal.
HP:0030208 Anti-acetylcholine receptor antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury. The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury.
HP:0100503 Decreased circulating vitamin B1 concentration A reduced concentration of vitamin B1. The concentration of vitamin B1 in the blood circulation is below the lower limit of normal.
HP:0040090 Abnormal tympanic membrane morphology An abnormality of the tympanic membrane Any structural abnormality of the tympanic membrane
HP:0002514 Cerebral calcification The presence of calcium deposition within brain structures. The presence of calcium deposition within the cerebrum.
HP:0009380 Finger aplasia Aplasia of one or more fingers. A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).
HP:0034690 Reduced short-chain acyl-CoA dehydrogenase activity Diminished activbity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyses the first step in mitochondrial beta-oxidation of fatty acids. Diminished activity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyses the first step in mitochondrial beta-oxidation of fatty acids.
HP:0005849 Diffuse cerebral calcification Generalized deposition of calcium salts within the brain. Generalized deposition of calcium salts within the cerebrum.
HP:0100506 Decreased circulating vitamin B8 concentration A reduced concentration of vitamin B8. The concentration of vitamin B8 in the blood circulation is below the lower limit of normal.
HP:0007544 Piebald skin depigmentation Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution. Congenital large depigmented (white) macule of irergular rhomboid shape. Piebald skin depigmentation generally presents with multiple such macules in the affected individual. There may be smaller (5-15mm), discrete, skin-colored and hyperpigmented macules interspersed within the depigmented macules.
HP:0410075 Increased CSF xylitol concentration An increase in the level of xylitol in the cerebrospinal fluid. The concentration of xylitol in the cerebrospinal fluid is above the upper limit of normal.
HP:0000372 Abnormal auditory canal morphology An abnormality of the External acoustic tube (also known as the auditory canal). Any structural abnormality of the external acoustic tube (also known as the auditory canal).
HP:0410058 Increased CSF D-threitol concentration An increase in the level of D-threitol in the cerebrospinal fluid. The concentration of D-threitol in the cerebrospinal fluid is above the upper limit of normal.
HP:0410071 Increased CSF ribitol concentration An increase in the level of ribitol in the cerebral spinal fluid. The concentration of ribitol in the cerebrospinal fluid is above the upper limit of normal.
HP:0003145 Decreased circulating adenosylcobalamin concentration Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12. The concentration of adenosylcobalam in the blood circulation is below the lower limit of normal. Adenosylcobalamin is one of the active forms of vitamin B12.
HP:0000964 Eczematoid dermatitis Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.
HP:0005671 Bilateral intracerebral calcifications Deposition of calcium salts on both sides of the brain. Deposition of calcium salts on both sides of the cerebrum.
HP:0011497 Rubeosis iridis New growth of vessels on the surface of the iris. Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification.
HP:0100510 Decreased circulating vitamin C concentration A reduced concentration of Vitamin C. The concentration of vitamin C in the blood circulation is below the lower limit of normal.
Node Direct Merge: 13
ID Label Replacement ID Replacement Label
HP:0000976 obsolete Eczematoid dermatitis HP:0000964 Eczematoid dermatitis
HP:0034041 obsolete Ventricular ectopy HP:0006682 Premature ventricular contraction
HP:0034116 obsolete Anti-thyrotropin receptor antibody HP:0034189 Anti-thyroid-stimulating hormone receptor antibody positivity
HP:0040278 obsolete Prolactinoma HP:0006767 Pituitary prolactin cell adenoma
HP:0008572 obsolete External ear malformation HP:0000377 Abnormal pinna morphology
HP:0010961 obsolete Intralobar sequestration HP:0011278 Intrapulmonary lobar sequestration
HP:0010960 obsolete Bronchopulmonary sequestration HP:0100632 Pulmonary sequestration
HP:0001180 obsolete Hand oligodactyly HP:0009380 Finger aplasia
HP:0033919 obsolete Medial/intimal arcuate venulitis HP:0033917 Arcuate intimal/medial venulitis
HP:6000117 obsolete Elevated urinary AICA-riboside level HP:0034565 Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level
HP:0040268 obsolete Recurrent infections of the middle ear HP:0000403 Recurrent otitis media
HP:0007227 obsolete Macrogyria HP:0001302 Pachygyria
HP:0025319 obsolete Rubeosis iridis HP:0011497 Rubeosis iridis
Node Obsoleted with Direct Replacement: 1
ID Label Replacement ID Replacement Label
HP:0010962 obsolete Extralobar sequestration HP:0006544 Extrapulmonary lobar sequestration
New Synonyms Added: 65
ID Label New Synonym
HP:0100512 Decreased circulating vitamin D concentration Low levels of vitamin D
HP:0032025 Reduced circulating alpha-1-antitrypsin concentration Reduced serum alpha-1-antitrypsin
HP:0034836 Cystic nephroma Multilocular cystic renal tumour
HP:0040126 Abnormal circulating vitamin B12 concentration Abnormal vitamin B12 level
HP:0002616 Aortic root aneurysm Enlarged aortic root
HP:0011892 Decreased circulating vitamin K concentration Low levels of vitamin K
HP:0000356 Abnormality of the outer ear External ear malformation
HP:0008326 Reduced circulating vitamin B6 circulating Reduced circulating vitamin B6 level
HP:0100504 Decreased circulating vitamin B2 concentration Low levels of vitamin B2
HP:6000087 Penile swelling Penile oedema
HP:0003223 Decreased circulating methylcobalamin concentration Decreased methylcobalamin
HP:5200294 Sexsomnia Sexual behaviour during sleep
HP:0025484 Increased circulating thyroglobulin concentration Increased circulating thyroglobulin level
HP:0003262 Anti-smooth muscle antibody positivity Smooth muscle antibody positivity
HP:0033359 Hyperosthenuria Elevated urine osmolality
HP:0033359 Hyperosthenuria Elevated urine osmolarity
HP:0500005 Anal pain Anorectal pain
HP:0500005 Anal pain Proctalgia
HP:0006767 Pituitary prolactin cell adenoma Prolactinoma
HP:0033917 Arcuate intimal/medial venulitis Medial/intimal arcuate venulitis
HP:0032477 Elevated circulating vitamin B6 concentration Elevated circulating vitamin B6 level
HP:0100505 Decreased circulating vitamin B5 concentration Low levels of vitamin B5
HP:5200332 Addictive non-substance behaviors Addiction to a behaviour
HP:0410073 Increased CSF ribose concentration Increased level of ribose in CSF
HP:0030764 Ochronosis Ochronotic arthritis
HP:0100503 Decreased circulating vitamin B1 concentration Low levels of vitamin B1
HP:0040090 Abnormal tympanic membrane morphology Abnormality of the tympanic membrane
HP:0009380 Finger aplasia Aplasia of the fingers
HP:0009380 Finger aplasia Hand has less than 5 fingers
HP:0009380 Finger aplasia Hand oligodactyly
HP:5200212 Increased social interactions Amplified socializing, enhanced social interactions, overattentive behaviour
HP:0004942 Aortic aneurysm Enlarged aorta
HP:0034756 Fetal exposure history Foetal medication or drug exposure
HP:0100506 Decreased circulating vitamin B8 concentration Low levels of vitamin B8
HP:5200291 Sleep enactment REM sleep behaviour disorder
HP:5200291 Sleep enactment Rapid eye movement sleep behaviour disorder
HP:0410156 Increased level of N-acetylneuraminic acid in urine Increased urinary sialic acid
HP:0032230 Cytoplasmic antineutrophil antibody positivity C-ANCA antibodies
HP:0032230 Cytoplasmic antineutrophil antibody positivity Cytoplasmic antineutrophil cytoplasmic antibodies
HP:0007544 Piebald skin depigmentation Piebaldism
HP:0410075 Increased CSF xylitol concentration Increased level of xylitol in CSF
HP:0000372 Abnormal auditory canal morphology Abnormality of the auditory canal
HP:0410058 Increased CSF D-threitol concentration Increased level of D-threitol in CSF
HP:0001385 Hip dysplasia Developmental dysplasia of the hip
HP:0001385 Hip dysplasia DDH
HP:0032476 Abnormal circulating vitamin B6 concentration Abnormal circulating vitamin B6 level
HP:0009920 Nevus of Ota Nevus of Ito
HP:0009920 Nevus of Ota Mongolian spot
HP:0009755 Ankyloblepharon Fused eyelid
HP:0011111 Abnormal immune serum protein physiology Abnormality of immune serum protein physiology
HP:0006544 Extrapulmonary lobar sequestration Extralobar sequestration
HP:0006544 Extrapulmonary lobar sequestration Extrapulmonary sequestrum
HP:0034189 Anti-thyroid-stimulating hormone receptor antibody positivity Anti-thyrotropin receptor antibody
HP:0011497 Rubeosis iridis Iris neovascularization
HP:0025379 Anti-thyroid peroxidase antibody positivity Antimicrosomal antibodies
HP:0025379 Anti-thyroid peroxidase antibody positivity Antimicrosomal antibody positivity
HP:0011278 Intrapulmonary lobar sequestration Intrapulmonary sequestration
HP:0011278 Intrapulmonary lobar sequestration Intralobar sequestration
HP:0001302 Pachygyria Macrogyria
HP:0100510 Decreased circulating vitamin C concentration Low levels of vitamin C
HP:0100632 Pulmonary sequestration Bronchopulmonary sequestration
HP:0025483 Abnormal circulating thyroglobulin concentration Abnormal circulating thyroglobulin level
HP:0034565 Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level Elevated urinary AICA-riboside level
HP:0010943 Echogenic fetal bowel Hyperechogenic foetal bowel
HP:0002151 Increased circulating lactate concentration Increased serum lactate
Synonyms Removed: 8
ID Label Removed Synonym
HP:0002655 Spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia tarda
HP:0100814 Blue nevus Mongolian spot
HP:0002514 Cerebral calcification Intracranial calcifications
HP:0002514 Cerebral calcification Brain calcification
HP:0002514 Cerebral calcification Intracranial calcification
HP:0002514 Cerebral calcification Intracerebral calcifications
HP:0008572 obsolete External ear malformation External ear malformation
HP:0001180 obsolete Hand oligodactyly Hand has less than 5 fingers
New Text Definition: 6500
ID Label Old Text Definition New Text Definition
HP:0007855 None None None
HP:0004988 None None None
HP:0002784 None None None
HP:0002546 Incomprehensible speech None None
HP:0004609 Patchy distortion of vertebrae None None
HP:0007342 None None None
HP:0007154 None None None
HP:0003954 Angulated forearm bones None None
HP:0008156 None None None
HP:0005038 None None None
HP:0007288 None None None
HP:0004669 None None None
HP:0003977 Deformed radius None None
HP:0030573 Pinhole visual acuity 0.5 LogMAR None None
HP:0000066 Labial hypoplasia None None
HP:0030651 Multifocal None None
HP:0006446 Dysplastic patella None None
HP:0003766 None None None
HP:0200144 obsolete Anaphylactoid purpura None None
HP:0002736 None None None
HP:0005685 None None None
HP:0007117 Corticospinal tract atrophy None None
HP:0007473 Crusting erythematous dermatitis None None
HP:0006933 None None None
HP:0003004 None None None
HP:0004537 None None None
HP:0033067 Cystine crystalluria None None
HP:0009457 Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger None None
HP:0000254 None None None
HP:0009282 Abnormality of the distal phalanx of the 4th finger None None
HP:0008203 None None None
HP:0008078 Thin metatarsal cortices None None
HP:0007680 Depigmented fundus None None
HP:0006250 None None None
HP:0005010 Osteomyelitis leading to amputation due to slow healing fractures None None
HP:0040131 Abnormal motor nerve conduction velocity None None
HP:0006618 None None None
HP:0100079 Cone-shaped epiphyses of the 5th toe None None
HP:0006256 Abnormality of hand joint mobility None None
HP:0007566 Index finger dermatoglyphic radial loop None None
HP:0100009 Intracranial meningioma None None
HP:0006008 Unilateral brachydactyly None None
HP:0100591 None None None
HP:0001949 Hypokalemic alkalosis None None
HP:0003143 None None None
HP:0005515 None None None
HP:0030649 Pericentral None None
HP:0007273 None None None
HP:0003726 None None None
HP:0005786 None None None
HP:0004513 None None None
HP:0006987 None None None
HP:0008466 None None None
HP:0003980 Pseudarthrosis of the radius None None
HP:0006318 None None None
HP:0005940 None None None
HP:0006080 None None None
HP:0007223 None None None
HP:0008970 Scapulohumeral muscular dystrophy None None
HP:0003266 None None None
HP:0040073 Obsolete Abnormal forearm bone morphology None None
HP:0008552 None None None
HP:0000786 Primary amenorrhea None None
HP:0001443 Abnormality of the gluteal musculature None None
HP:0100089 Abnormality of the epiphysis of the middle phalanx of the 2nd toe None None
HP:0006432 Trapezoidal distal femoral condyles None None
HP:0003012 None None None
HP:0001488 Bilateral ptosis None None
HP:0009289 Aplasia/Hypoplasia of the distal phalanx of the 4th finger None None
HP:0007623 Pigmentation anomalies of sun-exposed skin None None
HP:0030358 Non-small cell lung carcinoma None None
HP:0040304 Duplication of the sella turcica None None
HP:0500010 obsolete Increased cholesterol esters None None
HP:0011866 None None None
HP:0005308 Pulmonary artery vasoconstriction None None
HP:0002498 None None None
HP:0100637 obsolete Neoplasia of the nose None None
HP:0009373 Type C brachydactyly None None
HP:0008893 None None None
HP:0010842 None None None
HP:0009056 Loss of subcutaneous adipose tissue from upper limbs None None
HP:0008355 None None None
HP:0009521 Small epiphysis of the middle phalanx of the 2nd finger None None
HP:0003029 Enlargement of the ankles None None
HP:0006078 None None None
HP:0000856 None None None
HP:0003430 None None None
HP:0010245 Abnormality of the epiphyses of the proximal phalanges of the hand None None
HP:0006291 Marked delay in eruption of permanent teeth None None
HP:0009041 None None None
HP:0000792 None None None
HP:0007106 None None None
HP:0100380 Aplasia of the distal phalanx of the 5th toe None None
HP:0005617 Bilateral camptodactyly None None
HP:0008814 None None None
HP:0007645 None None None
HP:0004185 obsolete Fused epiphysis of terminal phalanx of the middle finger None None
HP:0007662 None None None
HP:0005724 None None None
HP:0033473 10-minute APGAR score of 5 None None
HP:0100362 Aplasia of the phalanges of the 3rd toe None None
HP:0003863 Angulated humerus None None
HP:0030582 Pinhole visual acuity 2.0 LogMAR None None
HP:0100715 None None None
HP:0010577 Absent epiphyses None None
HP:0004157 obsolete Accessory middle-finger phalanges None None
HP:0003890 Prominent deltoid tuberosities None None
HP:0000994 None None None
HP:0004738 None None None
HP:0010154 Irregular epiphysis of the 1st metatarsal None None
HP:0000861 None None None
HP:0030593 Abnormal manual kinetic perimetry test None None
HP:0008528 Long hairs growing from helix of pinna None None
HP:0000145 Transverse vaginal septum None None
HP:0001690 None None None
HP:0009040 None None None
HP:0006240 None None None
HP:0100126 Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe None None
HP:0004541 None None None
HP:0004228 None None None
HP:0007904 None None None
HP:0007309 None None None
HP:0011775 Thyroid macrofollicular adenoma None None
HP:0009542 Abnormality of the distal phalanx of the 2nd finger None None
HP:0030603 Abnormal optical coherence tomography None None
HP:0030619 Reduced OCT-measured foveal thickness None None
HP:0007268 Aprosencephaly None None
HP:0030620 Inner retinal layer loss on macular OCT None None
HP:0034723 Elevated CSF hydroxyproline concentration None None
HP:0100088 Abnormality of the epiphysis of the distal phalanx of the 2nd toe None None
HP:0002022 None None None
HP:0005502 Increased red cell osmotic fragility None None
HP:0006364 None None None
HP:0004037 Abnormal ulnar epiphysis morphology None None
HP:0040042 Aplasia of the eccrine sweat glands None None
HP:0010097 Partial duplication of the distal phalanx of the hallux None None
HP:0007789 None None None
HP:0006954 None None None
HP:0007559 Localized epidermolytic hyperkeratosis None None
HP:0004559 None None None
HP:0004165 None None None
HP:0004985 None None None
HP:0006362 Varus deformity of humeral neck None None
HP:0003497 None None None
HP:0008575 None None None
HP:0003211 None None None
HP:0001527 None None None
HP:0006183 None None None
HP:0100191 Absent epiphysis of the proximal phalanx of the 4th toe None None
HP:0003968 None None None
HP:0100069 Enlarged epiphyses of the 4th toe None None
HP:0008130 None None None
HP:0007257 None None None
HP:0006157 Prominent palmar flexion creases None None
HP:0008010 None None None
HP:0100863 Aplasia of the femoral neck None None
HP:0007816 None None None
HP:0001523 None None None
HP:0005498 Midline skin dimples over anterior/posterior fontanelles None None
HP:0004030 Patchy sclerosis of radial diaphysis None None
HP:5200110 Preferes being alone None None
HP:0008447 Hypoplastic coccygeal vertebrae None None
HP:0002409 None None None
HP:0002089 Pulmonary hypoplasia None None
HP:0006827 Atrophy of the spinal cord None None
HP:0005463 Elongated sella turcica None None
HP:0008180 Mildly elevated creatine kinase None None
HP:0010080 Osteolytic defects of the distal phalanx of the hallux None None
HP:0030581 Pinhole visual acuity 1.3 LogMAR None None
HP:0010573 None None None
HP:0030623 Intraretinal hyporeflective spaces on macular OCT None None
HP:0005454 None None None
HP:0010753 Midline defect of mandible None None
HP:0006982 None None None
HP:0002052 None None None
HP:0006943 Diffuse spongiform leukoencephalopathy None None
HP:0003435 Cold-induced hand cramps None None
HP:0005524 Macrocytic hemolytic disease None None
HP:0007463 None None None
HP:0040101 Cutaneous atresia of the external auditory canal None None
HP:0005687 Deformed humeral heads None None
HP:0003810 Late-onset distal muscle weakness None None
HP:0005958 None None None
HP:0003199 Decreased muscle mass None None
HP:0001455 None None None
HP:0008128 None None None
HP:0001170 None None None
HP:0005568 None None None
HP:0002449 None None None
HP:0010879 Postnatal cystic hygroma None None
HP:0200073 Respiratory insufficiency due to defective ciliary clearance None None
HP:0003869 Humeral cortical thinning None None
HP:0007049 None None None
HP:0030076 Lobular carcinoma in situ None None
HP:0006195 None None None
HP:0003611 None None None
HP:0034482 Abnormal spinal cord physiology None None
HP:0034789 Muscular vasculitis None None
HP:0008152 None None None
HP:0002994 None None None
HP:0006891 Thick cerebral cortex None None
HP:0006888 Meningoencephalocele None None
HP:0003214 Prolonged G2 phase of cell cycle None None
HP:0002297 Red hair None None
HP:0007783 obsolete Butterfly retinal pigment epithelial dystrophy None None
HP:0006853 None None None
HP:0007828 None None None
HP:0009810 Abnormality of upper limb joint None None
HP:0000783 None None None
HP:0100252 Diaphyseal dysplasia None None
HP:0005737 None None None
HP:0040075 Hypopituitarism None None
HP:0006231 None None None
HP:0005468 None None None
HP:5200239 Consonant expressive impediment None None
HP:0003317 None None None
HP:0030537 Unaided visual acuity 0.2 LogMAR None None
HP:0002658 None None None
HP:0004858 None None None
HP:0030931 1-minute APGAR score of 4 None None
HP:0006604 None None None
HP:0000082 None None None
HP:0007101 None None None
HP:0002068 Neuromuscular dysphagia None None
HP:0100433 Broad distal phalanx of the 5th toe None None
HP:0005412 None None None
HP:0010369 Abnormality of the middle phalanx of the 3rd toe None None
HP:0010611 None None None
HP:0009708 Synostosis involving the 5th metacarpal None None
HP:0001189 None None None
HP:0010457 obsolete Widening of the sacrosciatic notch None None
HP:0009364 None None None
HP:0007653 None None None
HP:0008874 None None None
HP:0007607 Hypohidrotic ectodermal dysplasia None None
HP:0006021 None None None
HP:0200093 None None None
HP:0001282 None None None
HP:0009094 Cleft lower alveolar ridge None None
HP:0010249 Enlarged epiphyses of the distal phalanges of the hand None None
HP:0002501 Spasticity of pharyngeal muscles None None
HP:0008510 None None None
HP:0003381 None None None
HP:0006303 None None None
HP:0100107 Pseudoepiphysis of the distal phalanx of the 2nd toe None None
HP:0030276 obsolete Small scrotum None None
HP:0008831 None None None
HP:0005752 Flattened moderately deformed vertebrae None None
HP:0000361 obsolete Pulsatile tinnitus (tympanic paraganglioma) None None
HP:0030517 Heteronymous hemianopia None None
HP:0009519 Ivory epiphysis of the middle phalanx of the 2nd finger None None
HP:0005375 obsolete Partial cellular immunodeficiency None None
HP:0005497 None None None
HP:0003845 None None None
HP:0001758 None None None
HP:0000273 Facial grimacing None None
HP:0008813 None None None
HP:0009044 obsolete Hypoplasia of deltoid muscle None None
HP:0006403 None None None
HP:0008067 Abnormally lax or hyperextensible skin None None
HP:0007644 None None None
HP:0004211 None None None
HP:0007673 None None None
HP:0000663 None None None
HP:0004120 None None None
HP:0003395 None None None
HP:0008492 None None None
HP:0030559 Best corrected visual acuity 0.7 LogMAR None None
HP:0030469 Abnormal dark-adapted electroretinogram None None
HP:0008141 Dislocation of toes None None
HP:0009475 None None None
HP:0003985 Exostoses of the ulna None None
HP:0003874 Humerus varus None None
HP:0040118 Stenosis of the Eustachian tube None None
HP:0000409 None None None
HP:0000874 None None None
HP:0007505 Progressive hyperpigmentation None None
HP:0005799 None None None
HP:0004539 None None None
HP:0008759 None None None
HP:0000943 Dysostosis multiplex None None
HP:0004511 None None None
HP:0200129 obsolete Calcific mitral stenosis None None
HP:0045060 Aplasia/hypoplasia involving bones of the extremities None None
HP:0002802 None None None
HP:0005414 None None None
HP:0003972 None None None
HP:0005797 None None None
HP:0200116 Distal ileal atresia None None
HP:0009706 Synostosis involving the 3rd metacarpal None None
HP:0001525 Severe failure to thrive None None
HP:0008713 None None None
HP:0000296 None None None
HP:0100090 Abnormality of the epiphysis of the proximal phalanx of the 2nd toe None None
HP:0005998 None None None
HP:0008495 None None None
HP:0008319 None None None
HP:0007689 None None None
HP:0010032 None None None
HP:0005065 None None None
HP:0006271 None None None
HP:0006838 None None None
HP:0040172 Abnormality of occipitofrontalis muscle None None
HP:0030297 Metaphyseal chondromatosis of ulna None None
HP:0000500 None None None
HP:0001446 Abnormality of the musculature of the upper limbs None None
HP:0004177 None None None
HP:0003169 None None None
HP:0100426 Broad middle phalanx of the 4th toe None None
HP:0008559 Hypoplastic superior helix None None
HP:0006915 Inability to walk by childhood/adolescence None None
HP:0006520 Progressive pulmonary function impairment None None
HP:0002641 Peripheral thrombosis None None
HP:0011392 Abnormality of the vestibular nerve None None
HP:0200105 Absent fifth toenail None None
HP:0007853 None None None
HP:0002291 None None None
HP:0008685 None None None
HP:0004245 Comma-shaped scaphoid None None
HP:0010700 obsolete Total cataract None None
HP:0005909 None None None
HP:0040069 Abnormal lower limb bone morphology None None
HP:0007914 None None None
HP:0100237 Proximal foot symphalangism None None
HP:0004574 None None None
HP:0002326 Transient ischemic attack None None
HP:0003943 Abnormality of the joint spaces of the elbow None None
HP:0003389 None None None
HP:0008639 Gonadal hypoplasia None None
HP:0000401 None None None
HP:0008075 obsolete Progressive pes cavus None None
HP:0009628 None None None
HP:0010194 Aplasia/Hypoplasia of the middle phalanges of the toes None None
HP:0007296 None None None
HP:0200052 None None None
HP:0008989 None None None
HP:0000611 obsolete Choroid coloboma None None
HP:0004715 None None None
HP:0001109 None None None
HP:0001113 obsolete Early cataracts None None
HP:0004842 None None None
HP:0007661 Abnormality of chorioretinal pigmentation None None
HP:0000727 Frontal lobe dementia None None
HP:0003061 None None None
HP:0000315 Abnormality of the orbital region None None
HP:0007825 obsolete Cataracts develop in second or third decade None None
HP:0003008 None None None
HP:0004626 Lumbar scoliosis None None
HP:0001121 None None None
HP:0010244 Abnormality of the epiphyses of the middle phalanges of the hand None None
HP:0007563 None None None
HP:0001386 Joint swelling None None
HP:0001447 None None None
HP:0000312 None None None
HP:0004697 None None None
HP:0003941 Stippled calcification of the elbow None None
HP:0006356 None None None
HP:0003924 Stippled calcification of humeral metaphysis None None
HP:0001253 None None None
HP:0003056 None None None
HP:0003058 None None None
HP:0008449 Progressive cervical vertebral spine fusion None None
HP:0002906 None None None
HP:0006594 None None None
HP:0045061 Decreased carnitine level in liver None None
HP:0007612 None None None
HP:0006819 None None None
HP:0004847 None None None
HP:0008648 Anteriorly displaced urethral meatus None None
HP:0002854 None None None
HP:0030919 Low 5-minute APGAR score None None
HP:0004098 None None None
HP:0008145 None None None
HP:0005149 None None None
HP:0003605 None None None
HP:0004341 Abnormality of vitamin B12 metabolism None None
HP:0001589 None None None
HP:0002852 None None None
HP:0007416 None None None
HP:0007115 Orbital encephalocele None None
HP:0200159 Agenesis of primary mandibular lateral incisor None None
HP:0005632 Absent forearm None None
HP:0006232 Expanded metacarpals with widened medullary cavities None None
HP:0007411 Hypoplastic-absent sebaceous glands None None
HP:0008937 None None None
HP:0100010 Spinal meningioma None None
HP:0005205 None None None
HP:0004682 None None None
HP:0100325 None None None
HP:0011550 Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection None None
HP:0001404 Hepatocellular necrosis None None
HP:0003638 None None None
HP:0007471 Axillary and groin hyperpigmentation and hypopigmentation None None
HP:0005747 Easily subluxated first metacarpophalangeal joints None None
HP:0001226 obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits None None
HP:0006522 Repeated pneumothoraces None None
HP:0100045 Bracket epiphyses of the 2nd toe None None
HP:0006137 None None None
HP:0200140 None None None
HP:0003488 None None None
HP:0009861 None None None
HP:0045003 Abnormal ossification of the scaphoid None None
HP:0008895 None None None
HP:0006515 Interstitial pneumonitis None None
HP:0008119 Deformed tarsal bones None None
HP:0030963 obsolete Abnormal aortic morphology None None
HP:0006650 Thickening of the lateral border of the scapula None None
HP:0040173 Abnormality of the tongue muscle None None
HP:0005082 None None None
HP:0005860 None None None
HP:0006701 None None None
HP:0006973 None None None
HP:0007013 None None None
HP:3000026 obsolete Abnormality of common carotid artery plus branches None None
HP:0007539 None None None
HP:0009817 Aplasia involving bones of the lower limbs None None
HP:0006126 None None None
HP:0002824 None None None
HP:0005032 None None None
HP:0004895 None None None
HP:0006075 None None None
HP:0005427 None None None
HP:0011607 obsolete Transposition of the great arteries with ventricular septal defect None None
HP:0009516 Enlarged epiphysis of the middle phalanx of the 2nd finger None None
HP:0004849 None None None
HP:0040179 Decreased level of platelet-activating factor None None
HP:0200133 Lumbosacral meningocele None None
HP:0008384 None None None
HP:0008600 None None None
HP:0008990 None None None
HP:0006043 None None None
HP:0003591 None None None
HP:0004583 None None None
HP:0005279 None None None
HP:0001398 None None None
HP:0003975 obsolete Chevron-shaped/cone-shaped radius None None
HP:0004949 None None None
HP:0002651 Spondyloepimetaphyseal dysplasia None None
HP:0100101 Bracket epiphysis of the distal phalanx of the 2nd toe None None
HP:0008564 None None None
HP:0001372 None None None
HP:0003096 None None None
HP:0007344 Atrophy/Degeneration involving the spinal cord None None
HP:0011558 Double inlet to single ventricle with common atrioventricular orifice None None
HP:0004747 None None None
HP:0005026 Mesomelic/rhizomelic limb shortening None None
HP:0007346 Subcortical white matter calcifications None None
HP:0008778 None None None
HP:0030594 Abnormal automated kinetic perimetry test None None
HP:0001781 None None None
HP:0006089 Palmar hyperhidrosis None None
HP:0009984 None None None
HP:0004702 None None None
HP:0005075 None None None
HP:0007248 None None None
HP:0005399 None None None
HP:0006444 None None None
HP:0030294 Metaphyseal chondromatosis of tibia None None
HP:0011016 obsolete Abnormality of urine glucose concentration None None
HP:0003567 None None None
HP:0034370 Abnormal muscle tissue metabolite concentration None None
HP:0001421 Abnormality of the musculature of the hand None None
HP:0006782 Malignant eosinophil proliferation None None
HP:0001437 Abnormality of the musculature of the lower limbs None None
HP:0005785 None None None
HP:0002264 None None None
HP:0005931 None None None
HP:0008919 None None None
HP:0004350 None None None
HP:0001587 obsolete Primary ovarian failure None None
HP:0008475 Hypoplastic sacral vertebrae None None
HP:0040252 Abnormal size of the clitoris None None
HP:0007347 None None None
HP:0030630 Irregular central macular autofluorescence None None
HP:0005309 obsolete Peripheral vascular insufficiency None None
HP:0000167 None None None
HP:0009532 Small epiphysis of the proximal phalanx of the 2nd finger None None
HP:0100723 Gastrointestinal stroma tumor None None
HP:0040016 Prominent coccyx None None
HP:0007557 None None None
HP:0200059 Metastatic angiosarcoma None None
HP:0006131 None None None
HP:0008382 None None None
HP:0001138 Optic neuropathy None None
HP:0009770 Curved phalanges of the hand None None
HP:0005805 None None None
HP:0004274 Deficient ossification of hand bones None None
HP:0003917 Pointed humeral metaphysis None None
HP:0010587 Triangular epiphyses None None
HP:0006975 None None None
HP:0007170 None None None
HP:0009841 None None None
HP:0004965 None None None
HP:0004951 None None None
HP:0001366 None None None
HP:0007400 Irregular hyperpigmentation None None
HP:0001856 None None None
HP:0001002 obsolete Decreased subcutaneous fat None None
HP:0004385 Protracted diarrhea None None
HP:0030918 Low 1-minute APGAR score None None
HP:0004571 Widening of cervical spinal canal None None
HP:0006246 None None None
HP:0002602 None None None
HP:0010272 Fragmentation of the epiphyses of the proximal phalanges of the hand None None
HP:0031687 Abnormally loud pulmonic component of the second heart sound None None
HP:0007747 Monocular horizontal nystagmus None None
HP:0034993 Hip internal rotation contracture None None
HP:0004680 None None None
HP:0004884 None None None
HP:0010578 Bracket epiphyses None None
GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity None None
HP:0000390 None None None
HP:0007956 obsolete Bilateral choroid coloboma None None
HP:0002760 None None None
HP:0008346 Increased red cell sickling tendency None None
HP:0001775 Tarsal osteovalgus None None
HP:0002177 None None None
HP:0004996 None None None
HP:0006993 None None None
HP:0008854 None None None
HP:0040043 Hypoplasia of the eccrine sweat glands None None
HP:0007319 None None None
HP:0005764 Polyarticular arthritis None None
HP:0000182 Movement abnormality of the tongue None None
HP:0003060 None None None
HP:0040010 Small posterior fossa None None
HP:0007424 None None None
HP:0004679 Large tarsal bones None None
HP:0030542 Unaided visual acuity 0.7 LogMAR None None
HP:0009038 None None None
HP:0004113 None None None
HP:0008405 None None None
HP:0007652 None None None
HP:0000976 obsolete Eczematoid dermatitis None None
HP:0100239 None None None
HP:0007614 None None None
HP:0005749 None None None
HP:0030567 Best corrected visual acuity 2.0 LogMAR None None
HP:0007322 None None None
HP:0100472 Symphalangism affecting the middle phalanx of the 5th toe None None
HP:0001573 None None None
HP:0004394 Multiple gastric polyps None None
HP:0009080 None None None
HP:0040413 Atrophic vaginal mucosa None None
HP:0006418 None None None
HP:0008996 None None None
HP:0005692 obsolete Joint hyperflexibility None None
HP:0002534 None None None
HP:0010520 None None None
HP:0005662 None None None
HP:0001277 None None None
HP:0007632 None None None
HP:0004688 Irregular tarsal bones None None
HP:0200083 Severe limb shortening None None
HP:0003588 None None None
HP:0001503 None None None
HP:0002782 None None None
HP:0030509 Retinal racemose hemangioma None None
HP:0033288 Glomerular basement membrane spikes None None
HP:0030564 Best corrected visual acuity 1.1 LogMAR None None
HP:0004698 None None None
HP:0006598 Irregular ossification at anterior rib ends None None
HP:0005056 None None None
HP:0010592 Abnormality of the distal tibial epiphysis None None
HP:0008868 None None None
HP:0005820 Superior rib anomalies None None
HP:0006617 None None None
HP:0007081 Late-onset muscular dystrophy None None
HP:0005079 None None None
HP:0006464 None None None
HP:0006635 None None None
HP:0007669 None None None
HP:0007104 Prolonged somatosensory evoked potentials None None
HP:0034678 Forefoot pronation contracture None None
HP:0007130 None None None
HP:0030521 Bitemporal hemianopia None None
HP:0100051 Pseudoepiphyses of the 2nd toe None None
HP:0002116 None None None
HP:0008255 Transient neonatal diabetes mellitus None None
HP:0004126 None None None
HP:0100136 Bracket epiphysis of the distal phalanx of the 3rd toe None None
HP:0005941 Intermittent hyperpnea at rest None None
HP:0005702 None None None
HP:0030613 Abnormal foveal morphology on macular OCT None None
HP:0003288 Mitochondrial propionyl-CoA carboxylase defect None None
HP:0008949 None None None
HP:0011544 L-looping of the right ventricle None None
HP:0007304 None None None
HP:0033029 obsolete Anti-Jo-1 antibody positivity None None
HP:0030473 Abnormal light-adapted flicker electroretinogram None None
HP:0003998 Constricted radial neck None None
HP:0010418 Patchy sclerosis of the distal phalanx of the 2nd toe None None
HP:0008611 None None None
HP:0003933 Sclerosis of humeral diaphysis None None
HP:0009365 None None None
HP:0200113 Aphalangy of hands and feet None None
HP:0000880 None None None
HP:0004141 None None None
HP:0010081 Patchy sclerosis of the distal phalanx of the hallux None None
HP:0040269 Blocked Eustachian tube None None
HP:0006139 None None None
HP:0008177 None None None
HP:0006940 None None None
HP:0003735 None None None
HP:0004542 None None None
HP:0007726 None None None
HP:0032076 Abnormal male urethral meatus morphology None None
HP:0007151 None None None
HP:0007142 None None None
HP:0003633 None None None
HP:0000332 None None None
HP:0006378 Osteolysis of patellae None None
HP:5200362 Short NREM sleep None None
HP:0004637 Decreased cervical spine mobility None None
HP:0008182 Adrenocortical hypoplasia None None
HP:0040290 obsolete Abnormality of skeletal muscles None None
HP:0004767 None None None
HP:0100032 None None None
HP:0005635 None None None
HP:0001145 obsolete Chorioretinopathy None None
HP:0005320 Lack of facial subcutaneous fat None None
HP:0004803 None None None
HP:0010267 Triangular epiphyses of the middle phalanges of the hand None None
HP:0000760 None None None
HP:0100068 Cone-shaped epiphyses of the 4th toe None None
HP:0040106 Abnormal lateral semicircular canal morphology None None
HP:0000673 None None None
HP:0010116 Enlarged epiphyses of the hallux None None
HP:0005699 None None None
HP:0010096 Complete duplication of the distal phalanx of the hallux None None
HP:0030510 Combined hamartoma of the retinal pigment epithelium and retina None None
HP:0006874 None None None
HP:0040004 Abnormality of corneal shape None None
HP:0010703 None None None
HP:0003277 Constricted iliac wing None None
HP:0009163 obsolete Abnormal form of the 5th finger None None
HP:0010671 None None None
HP:0002844 None None None
HP:0010420 Triangular shaped distal phalanx of the 2nd toe None None
HP:0003838 None None None
HP:0007586 Telangiectases producing 'marbled' skin None None
HP:0008007 Primary congenital glaucoma None None
HP:0001932 None None None
HP:0011066 None None None
HP:0001077 None None None
HP:0003356 None None None
HP:0003499 None None None
HP:0003213 Deficient excision of UV-induced pyrimidine dimers in DNA None None
HP:0002499 None None None
HP:0005331 None None None
HP:0004308 Ventricular arrhythmia None None
HP:0006769 Myxoid subcutaneous tumors None None
HP:0010146 Small epiphysis of the distal phalanx of the hallux None None
HP:0005138 None None None
HP:0000417 Slender nose None None
HP:0009363 None None None
HP:0008502 None None None
HP:0009481 None None None
HP:0003245 None None None
HP:0007176 None None None
HP:0005951 Progressive inspiratory stridor None None
HP:0004561 None None None
HP:0004774 None None None
HP:0000655 obsolete Vitreoretinal degeneration None None
HP:0032812 Neonatal electro-clinical non-motor seizure None None
HP:0045009 obsolete Abnormal morphology of the radius None None
HP:0005730 None None None
HP:0100058 Enlarged epiphyses of the 3rd toe None None
HP:0007277 Paucity of anterior horn motor neurons None None
HP:0008913 None None None
HP:0005719 None None None
HP:0004070 None None None
HP:0003519 None None None
HP:0003704 Scapuloperoneal weakness None None
HP:0006551 None None None
HP:0001247 None None None
HP:0005615 None None None
HP:0030519 Congruous heteronymous hemianopia None None
HP:0100773 Cartilage destruction None None
HP:0003620 None None None
HP:0002768 None None None
HP:0005300 Nodular inflammatory vasculitis None None
HP:0000367 None None None
HP:0004134 None None None
HP:0006936 None None None
HP:0005342 None None None
HP:0005105 Abnormal nasal morphology None None
HP:0030295 Metaphyseal chondromatosis of femur None None
HP:0000304 None None None
HP:0003059 Abnormality of the radioulnar joints None None
HP:0006445 None None None
HP:0003374 None None None
HP:0004066 obsolete Laterally deviated thumb phalanges None None
HP:0007725 None None None
HP:0008331 Elevated creatine kinase after exercise None None
HP:0003520 None None None
HP:5200032 obsolete Reduced immediate imitation of others None None
HP:0007869 obsolete Peripheral retinopathy None None
HP:0008192 None None None
HP:0004546 None None None
HP:0006846 Acute encephalopathy None None
HP:0007977 None None None
HP:0006839 None None None
HP:0000318 None None None
HP:0410211 Abnormal blood gas level in cord blood None None
HP:0006084 None None None
HP:0010132 Irregular epiphysis of the proximal phalanx of the hallux None None
HP:0200030 Punctate vasculitis skin lesions None None
HP:0010090 Patchy sclerosis of the proximal phalanx of the hallux None None
HP:0006171 None None None
HP:0007217 None None None
HP:0001255 None None None
HP:0040022 Clinodactyly of the 2nd finger None None
HP:0000195 None None None
HP:0002807 None None None
HP:0100265 Synostosis of metacarpals/metatarsals None None
HP:0045071 None None None
HP:0006018 None None None
HP:0008841 None None None
HP:0002712 None None None
HP:0005943 Respiratory arrest None None
HP:5200357 Prolonged N1 sleep None None
HP:0000686 None None None
HP:0002310 Orofacial dyskinesia None None
HP:0002413 None None None
HP:0004144 obsolete Duplication of terminal index finger phalanx None None
HP:0003253 None None None
HP:0100110 Triangular epiphysis of the distal phalanx of the 2nd toe None None
HP:0003996 Flattened radial head None None
HP:0001458 None None None
HP:0000933 Posterior fossa cyst at the fourth ventricle None None
HP:0008003 Jerky ocular pursuit movements None None
HP:0007478 None None None
HP:0002173 Hypoglycemic seizures None None
HP:0007050 None None None
HP:0004267 Narrow small joints of the hand None None
HP:0004355 obsolete Abnormality of proteoglycan metabolism None None
HP:0000797 None None None
HP:0007630 None None None
HP:0004706 None None None
HP:0006213 Thin proximal phalanges with broad epiphyses of the hand None None
HP:0001725 None None None
HP:0001174 None None None
HP:0009501 Abnormality of the epiphysis of the proximal phalanx of the 2nd finger None None
HP:0006038 None None None
HP:0007086 Social and occupational deterioration None None
HP:0003772 None None None
HP:0002328 None None None
HP:0006085 None None None
HP:0007422 None None None
HP:0002654 Multiple epiphyseal dysplasia None None
HP:0005870 None None None
HP:0006586 None None None
HP:0006421 None None None
HP:0007958 Optic atrophy from cranial nerve compression None None
HP:0010114 Bracket epiphyses of the hallux None None
HP:0005833 obsolete Joint swelling onset late infancy None None
HP:0006596 Restricted chest movement None None
HP:0008896 None None None
HP:0005647 None None None
HP:0006400 Absent knee epiphyses None None
HP:0006343 None None None
HP:0010338 Deviation of the 4th toe None None
HP:0007292 None None None
HP:0003258 Glyoxalase deficiency None None
HP:0009871 None None None
HP:0006130 None None None
HP:0002284 None None None
HP:0006436 obsolete Shortening of the tibia None None
HP:0005304 Hypoplastic pulmonary veins None None
HP:0006125 None None None
HP:0003176 None None None
HP:0003989 Notched ulna None None
HP:0008328 None None None
HP:0100227 Enlarged epiphysis of the proximal phalanx of the 5th toe None None
HP:0001157 None None None
HP:0003289 None None None
HP:0007326 Progressive choreoathetosis None None
HP:0004640 None None None
HP:0009766 None None None
HP:0040018 Clinodactyly of hallux None None
HP:0200019 None None None
HP:0005023 None None None
HP:0000583 None None None
HP:0100123 Bracket epiphysis of the proximal phalanx of the 2nd toe None None
HP:0010277 Stippling of the epiphyses of the proximal phalanges of the hand None None
HP:0005967 Mixed respiratory and metabolic acidosis None None
HP:0006761 None None None
HP:0006986 Upper limb spasticity None None
HP:0006447 None None None
HP:0007484 None None None
HP:0002952 None None None
HP:0005640 Abnormal vertebral segmentation and fusion None None
HP:0008603 None None None
HP:0007918 None None None
HP:0009082 None None None
HP:0200060 None None None
HP:0006697 None None None
HP:0004262 Abnormality of the capitate bone None None
HP:0001346 None None None
HP:0002924 obsolete Decreased circulating aldosterone level None None
HP:0004956 None None None
HP:0005710 None None None
HP:0006734 None None None
HP:0008782 None None None
HP:0005993 None None None
HP:0005367 None None None
HP:0004160 None None None
HP:0007407 Excessive skin wrinkling on dorsum of hands and fingers None None
HP:0000406 None None None
HP:0000899 None None None
HP:0003705 None None None
HP:0012145 Abnormality of multiple cell lineages in the bone marrow None None
HP:0100329 Tarsometatarsal synostosis None None
HP:0005996 None None None
HP:0007035 Anterior encephalocele None None
HP:0009823 Aplasia involving bones of the upper limbs None None
HP:0007912 None None None
HP:0000208 None None None
HP:0008561 None None None
HP:0006005 None None None
HP:5200132 Atypical sensory examination of objects None None
HP:0009447 Aplasia/Hypoplasia of the phalanges of the 3rd finger None None
HP:0030544 Unaided visual acuity 0.9 LogMAR None None
HP:0100904 Sclerosis of the middle phalanx of the 2nd finger None None
HP:0007955 None None None
HP:0004800 Duodenal diverticula None None
HP:0100215 Cone-shaped epiphysis of the middle phalanx of the 5th toe None None
HP:0007009 Central nervous system degeneration None None
HP:0009526 Cone-shaped epiphysis of the proximal phalanx of the 2nd finger None None
HP:0002272 None None None
HP:0001390 None None None
HP:0007025 None None None
HP:0002950 None None None
HP:0030964 Abnormal aortic physiology None None
HP:0008381 None None None
HP:0010166 Fragmentation of the epiphyses of the toes None None
HP:0007246 None None None
HP:0002470 Nonprogressive cerebellar ataxia None None
HP:0003382 Hypertrophic nerve changes None None
HP:0008570 None None None
HP:0100140 Irregular epiphysis of the distal phalanx of the 3rd toe None None
HP:0003868 Humeral cortical thickening None None
HP:0003088 Premature osteoarthritis None None
HP:0006397 Lateral displacement of patellae None None
HP:0004653 None None None
HP:0005705 None None None
HP:0004638 None None None
HP:0002029 None None None
HP:0003366 Abnormal femoral neck/head morphology None None
HP:0004521 None None None
HP:0008930 None None None
HP:0000281 None None None
HP:0001726 obsolete Increased prevalence of valvular disease None None
HP:0010265 Small epiphyses of the middle phalanges of the hand None None
HP:0010271 Enlarged epiphyses of the proximal phalanges of the hand None None
HP:0004259 Abnormality of the hamate bone None None
HP:0100115 Fragmentation of the epiphysis of the middle phalanx of the 2nd toe None None
HP:0001630 None None None
HP:0040109 Abnormal utricle morphology None None
HP:0034575 Reduced epidermal collagen IV protein expression None None
HP:0006399 None None None
HP:0003823 None None None
HP:0004714 None None None
HP:0007849 None None None
HP:0004318 None None None
HP:0200045 None None None
HP:0004358 Abnormality of superoxide metabolism None None
HP:0007635 None None None
HP:0001359 None None None
HP:0007786 obsolete Lacunar retinal depigmentation None None
HP:0006167 Prominent proximal interphalangeal joints None None
HP:0002674 None None None
HP:0010143 Irregular epiphysis of the distal phalanx of the hallux None None
HP:0040054 Short upper eyelashes None None
HP:0100199 Small epiphysis of the proximal phalanx of the 4th toe None None
HP:0000299 None None None
HP:0002830 None None None
HP:0003729 Enteroviral dermatomyositis syndrome None None
HP:0006566 Neonatal cholestatic liver disease None None
HP:0006060 Tombstone-shaped proximal phalanges None None
HP:0030615 Foveal photoreceptor outer segment loss on macular OCT None None
HP:0010160 Abnormal toe epiphysis morphology None None
HP:0034406 Elevated CSF angiotensin-converting enzyme concentration None None
HP:0008005 obsolete Congenital corneal dystrophy None None
HP:0011559 Double inlet to single ventricle with two atrioventricular valves None None
HP:0008592 None None None
HP:0005014 None None None
HP:0004036 Long styloid process of ulna None None
HP:0008973 None None None
HP:0007242 None None None
HP:0001628 None None None
HP:0100471 Symphalangism affecting the middle phalanx of the 4th toe None None
HP:0001496 None None None
HP:0011696 Supraventricular tachycardia with a manifest accessory pathway on the left free wall None None
HP:0006807 None None None
HP:0008671 None None None
HP:0001457 Abnormality of the musculature of the upper arm None None
HP:0004203 obsolete Short proximal phalanx of the ring finger None None
HP:0030548 Unaided visual acuity 1.3 LogMAR None None
HP:0002112 None None None
HP:0100154 Small epiphysis of the middle phalanx of the 3rd toe None None
HP:0003123 None None None
HP:0008074 Metatarsal periosteal thickening None None
HP:0004009 Medially sloping radial epiphyses None None
HP:0005559 Abnormality of the kinin-kallikrein system None None
HP:0000814 None None None
HP:0007442 None None None
HP:0033472 10-minute APGAR score of 4 None None
HP:0004407 Bony paranasal bossing None None
HP:0011758 Pituitary acidophilic stem cell adenoma None None
HP:0003433 None None None
HP:0003188 None None None
HP:0003867 Humeral cortical irregularity None None
HP:0002554 None None None
HP:0010563 None None None
HP:0030012 Abnormal female reproductive system physiology None None
HP:0008987 None None None
HP:0005385 None None None
HP:0030490 Exudative vitreoretinopathy None None
HP:0004545 None None None
HP:0100084 Pseudoepiphyses of the 5th toe None None
HP:0002468 None None None
HP:0007654 obsolete Retinal striation None None
HP:0007842 None None None
HP:0008799 None None None
HP:0007148 None None None
HP:0001542 None None None
HP:0003483 None None None
HP:0005361 None None None
HP:0005936 None None None
HP:0100330 None None None
HP:0006106 Absent trapezoid bone None None
HP:0006128 None None None
HP:0200130 None None None
HP:0006895 Lower limb hypertonia None None
HP:0004678 None None None
HP:0041054 obsolete Fractured thoracic segment of trunk None None
HP:0002417 None None None
HP:0003290 None None None
HP:0003562 Abnormal metaphyseal vascular invasion None None
HP:0200094 Frontal open bite None None
HP:0008284 None None None
HP:0003969 Slender forearm bones None None
HP:0003156 None None None
HP:0040034 Abnormality of the second metatarsal bone None None
HP:0010259 Cone-shaped epiphyses of the middle phalanges of the hand None None
HP:0100111 Absent epiphysis of the middle phalanx of the 2nd toe None None
HP:0006925 None None None
HP:0007070 None None None
HP:0040091 Asymmetry of the size of ears None None
HP:0030571 Pinhole visual acuity 0.3 LogMAR None None
HP:0002997 obsolete Abnormality of the ulna None None
HP:0000672 None None None
HP:0030550 Unaided visual acuity 3.0 LogMAR None None
HP:0002704 None None None
HP:0200089 None None None
HP:0007558 None None None
HP:0100939 Sclerosis of the distal phalanx of the 2nd toe None None
HP:0004147 None None None
HP:0008931 None None None
HP:0030563 Best corrected visual acuity 1.0 LogMAR None None
HP:0040064 Abnormality of limbs None None
HP:0007528 None None None
HP:0009333 Abnormality of the epiphysis of the proximal phalanx of the 3rd finger None None
HP:0032119 obsolete Narrow angle glaucoma None None
HP:0003055 None None None
HP:0040128 Abnormal sweat electrolytes None None
HP:0008375 None None None
HP:0005066 Cone-shaped epiphyses fused within their metaphyses None None
HP:0006831 None None None
HP:0010323 Abnormality of the epiphyses of the 2nd toe None None
HP:0001280 None None None
HP:0003748 None None None
HP:0008228 None None None
HP:0040079 Irregular dentition None None
HP:0010118 Irregular epiphyses of the hallux None None
HP:0002285 None None None
HP:0005290 Internal carotid artery hypoplasia None None
HP:0009372 Type A2 brachydactyly None None
HP:0003844 Small epiphyses of the upper limbs None None
HP:0001020 None None None
HP:0001306 None None None
HP:0004766 None None None
HP:0007507 None None None
HP:0100291 Abnormality of central somatosensory evoked potentials None None
HP:0008025 None None None
HP:0001296 None None None
HP:0003094 None None None
HP:0010670 None None None
HP:0000223 Abnormality of taste sensation None None
HP:0007435 obsolete Diffuse palmoplantar keratoderma None None
HP:0002968 None None None
HP:0007967 None None None
HP:0007579 None None None
HP:0008748 None None None
HP:0006069 obsolete Severe carpal ossification delay None None
HP:0001926 None None None
HP:0030513 Difficulty adjusting from light to dark None None
HP:0030504 Grouped congenital hypertrophy of retinal pigment epithelium None None
HP:0002995 None None None
HP:0001512 None None None
HP:0002452 None None None
HP:0005818 None None None
HP:0001235 None None None
HP:0001846 None None None
HP:0002603 None None None
HP:0040045 Abnormal hemidiaphragm morphology None None
HP:0007494 Discrete 2 to 5-mm hyper- and hypopigmented macules None None
HP:0006202 Osteolysis of scaphoids None None
HP:0030453 Abnormal visual electrophysiology None None
HP:0007315 None None None
HP:0009530 Ivory epiphysis of the proximal phalanx of the 2nd finger None None
HP:0005158 None None None
HP:0100062 Pseudoepiphyses of the 3rd toe None None
HP:0007090 None None None
HP:0030534 Abnormal best corrected visual acuity test None None
HP:0007482 Generalized papillary lesions None None
HP:0008515 Aplasia/Hypoplasia of the vertebrae None None
HP:0100207 Irregular epiphysis of the distal phalanx of the 5th toe None None
HP:0040333 Confluent hypointensity of cerebral white matter on MRI None None
HP:0007578 None None None
HP:0006321 Multiple non-erupting secondary teeth None None
HP:0005691 None None None
HP:0000170 None None None
HP:0005566 None None None
HP:0004204 None None None
HP:0005362 None None None
HP:0002567 None None None
HP:0005030 None None None
HP:0100151 Irregular epiphysis of the middle phalanx of the 3rd toe None None
HP:0003825 None None None
HP:0004208 None None None
HP:0100290 Abnormality of peripheral somatosensory evoked potentials None None
HP:0003452 Increased serum iron None None
HP:0030648 Midperipheral None None
HP:0007944 Intermittent microsaccadic pursuits None None
HP:0004619 Lumbar kyphoscoliosis None None
HP:0003843 Round epiphyses of the upper limbs None None
HP:0008045 Enlarged flash visual evoked potentials None None
HP:0006642 Large sternal ossification centers None None
HP:0000789 Infertility None None
HP:0045039 Osteolysis involving bones of the upper limbs None None
HP:0005409 obsolete Markedly reduced T cell function None None
HP:0002874 None None None
HP:0005765 Sacral meningocele None None
HP:0009807 None None None
HP:0200131 None None None
HP:0200126 obsolete Amyloid cardiomyopathy None None
HP:0100902 Sclerosis of the distal phalanx of the 4th finger None None
HP:0000862 None None None
HP:0006552 Fibrocystic lung disease None None
HP:0030489 Abnormal paracentral response of multifocal electroretinogram None None
HP:0010240 None None None
HP:0005955 None None None
HP:0003775 None None None
HP:0003586 None None None
HP:0004939 None None None
HP:0003579 None None None
HP:0002517 None None None
HP:0001068 None None None
HP:0009057 None None None
HP:0005100 Premature birth following premature rupture of fetal membranes None None
HP:0040031 Chorioretinal hyperpigmentation None None
HP:0004683 None None None
HP:0007496 None None None
HP:0001958 Nonketotic hypoglycemia None None
HP:0008164 None None None
HP:0007444 None None None
HP:0008147 None None None
HP:0006055 Ulnar deviated club hands None None
HP:0030617 Abnormal OCT-measured foveal thickness None None
HP:0002327 None None None
HP:0008307 None None None
HP:0001918 None None None
HP:0010846 EEG with persistent abnormal rhythmic activity None None
HP:0007331 None None None
HP:0004286 Patchy sclerosis of hand bones None None
HP:0004777 None None None
HP:0002727 None None None
HP:0001237 None None None
HP:0003415 None None None
HP:0010556 None None None
HP:0004728 None None None
HP:0034577 Reduced epidermal collagen VII protein expression None None
HP:0003049 Ulnar deviation of the wrist None None
HP:0005694 Partial fusion of proximal row of carpal bones None None
HP:0006525 obsolete Lung segmentation defects None None
HP:0011334 Facial shape deformation None None
HP:0005451 Decreased cranial base ossification None None
HP:0040104 Osseous stenosis of the external auditory canal None None
HP:0009008 None None None
HP:0004799 Jejunoileal diverticula None None
HP:0008351 None None None
HP:0003583 None None None
HP:0003794 None None None
HP:0001461 None None None
HP:0010394 Abnormal morphology of the proximal phalanx of the 5th toe None None
HP:0006455 None None None
HP:0007711 None None None
HP:0011818 Nasofrontal encephalocele None None
HP:0007796 None None None
HP:0009095 None None None
HP:0100950 Decreased 3-hydroxyacyl-CoA dehydrogenase level None None
HP:0004594 Hump-shaped mound of bone in central and posterior portions of vertebral endplate None None
HP:0008521 None None None
HP:0006974 None None None
HP:0100943 Sclerosis of the proximal phalanx of the hallux None None
HP:0040030 Chorioretinal hypopigmentation None None
HP:0007837 None None None
HP:0006365 None None None
HP:0005688 Dysplastic distal thumb phalanges with a central hole None None
HP:0007655 Eversion of lateral third of lower eyelids None None
HP:0012374 obsolete Abnormal globe morphology None None
HP:0008304 None None None
HP:0005555 None None None
HP:0007561 obsolete Telangiectases in sun-exposed and nonexposed skin None None
HP:0003632 None None None
HP:0007808 obsolete Bilateral retinal coloboma None None
HP:0004693 None None None
HP:0008415 None None None
HP:0008535 None None None
HP:0008882 None None None
HP:0005314 Anomalous branches of internal carotid artery None None
HP:0008694 obsolete Hypertrophic labia minora None None
HP:0004162 obsolete Radially pointed middle finger phalanges None None
HP:0008254 None None None
HP:0003855 Spurred metaphyses of the upper limbs None None
HP:0007354 Amyotrophic lateral sclerosis None None
HP:0003850 Upper-limb metaphyseal irregularity None None
HP:0003817 None None None
HP:0001176 Large hands None None
HP:0004393 None None None
HP:0002387 None None None
HP:0004088 None None None
HP:0010357 Abnormality of the middle phalanx of the 2nd toe None None
HP:0005963 None None None
HP:0008699 None None None
HP:0030013 obsolete Endometriosis None None
HP:0005378 None None None
HP:0006241 None None None
HP:0009620 obsolete Radial deviation of the thumb None None
HP:0004718 None None None
HP:0008196 None None None
HP:0002903 None None None
HP:0010217 None None None
HP:0040053 Long lower eyelashes None None
HP:0001469 Abnormal morphology of the pelvis musculature None None
HP:0002370 Poor coordination None None
HP:0003471 None None None
HP:0007999 None None None
HP:0002769 None None None
HP:0000133 Gonadal dysgenesis None None
HP:0002420 None None None
HP:0100941 Sclerosis of the distal phalanx of the 4th toe None None
HP:0001236 None None None
HP:0008622 None None None
HP:0025615 Abscess None None
HP:0034579 Reduced epidermal integrin alpha6beta4 protein expression None None
HP:0012140 obsolete Abnormality of cells of the lymphoid lineage None None
HP:0010131 Fragmentation of the epiphysis of the proximal phalanx of the hallux None None
HP:0005217 Duplication of internal organs None None
HP:0003120 None None None
HP:0004015 Abnormal radial metaphysis morphology None None
HP:0007593 None None None
HP:0007615 None None None
HP:0004770 None None None
HP:0006805 None None None
HP:0010723 Cystic lesions of the pinnae None None
HP:0011443 Abnormality of coordination None None
HP:0100743 Neoplasm of the rectum None None
HP:0100497 Vitamin B3 deficiency None None
HP:0005267 Premature delivery because of cervical insufficiency or membrane fragility None None
HP:0001584 None None None
HP:0003967 Sclerotic forearm bones None None
HP:0003597 None None None
HP:0008312 None None None
HP:0007743 None None None
HP:0004074 None None None
HP:0007037 None None None
HP:0003938 Synostosis involving the elbow None None
HP:0006441 Lateral humeral condyle aplasia None None
HP:0002598 None None None
HP:0030512 Difficulty adjusting to changes in luminance None None
HP:0009284 Abnormality of the proximal phalanx of the 4th finger None None
HP:0008243 None None None
HP:0008847 None None None
HP:0001755 None None None
HP:0004181 None None None
HP:0010413 Aplasia/Hypoplasia of the distal phalanx of the 2nd toe None None
HP:0100709 Reduction of oligodendroglia None None
HP:0010123 Triangular epiphyses of the hallux None None
HP:0007150 None None None
HP:0001241 Capitate-hamate fusion None None
HP:0008688 None None None
HP:0005253 Increased anterioposterior diameter of thorax None None
HP:0008235 None None None
HP:0034245 Fetal head anomaly None None
HP:0001753 None None None
HP:0007851 obsolete Temporal displacement of maculae None None
HP:0003440 Horizontal sacrum None None
HP:0009042 obsolete Marked muscular hypertrophy None None
HP:0030917 Low APGAR score None None
HP:0006909 None None None
HP:0006279 Beta-cell dysfunction None None
HP:0006341 None None None
HP:0000850 None None None
HP:0004555 None None None
HP:0006105 None None None
HP:0000638 None None None
HP:0003842 Irregular epiphyses of the upper limbs None None
HP:0006310 None None None
HP:0007866 Retinal infarction None None
HP:0008709 None None None
HP:0030576 Pinhole visual acuity 0.8 LogMAR None None
HP:0005569 None None None
HP:0006299 None None None
HP:0000334 None None None
HP:5200136 Reduced social reciprocity with peers None None
HP:0000440 None None None
HP:0009522 Stippling of the epiphysis of the middle phalanx of the 2nd finger None None
HP:0004989 None None None
HP:0010108 None None None
HP:0003925 None None None
HP:0008867 None None None
HP:0006002 None None None
HP:0006826 None None None
HP:0040006 Mortality/Aging None None
HP:0005398 None None None
HP:0008992 None None None
HP:0004833 None None None
HP:0012129 Abnormality of bone marrow stromal cells None None
HP:0009249 Abnormality of the epiphysis of the distal phalanx of the 4th finger None None
HP:0041232 obsolete Fractured skeleton of manual acropodium None None
HP:0008273 Transient aminoaciduria None None
HP:0007075 None None None
HP:0006637 Sternal punctate calcifications None None
HP:0003898 Large humeral epiphyses None None
HP:0003945 Irregular articular surfaces of the elbow joints None None
HP:0100181 Bracket epiphysis of the middle phalanx of the 4th toe None None
HP:0200110 None None None
HP:0100203 Bracket epiphysis of the distal phalanx of the 5th toe None None
HP:0410032 obsolete Cleft of uvula None None
HP:0006223 None None None
HP:0008287 None None None
HP:0007194 None None None
HP:0010170 Small epiphyses of the toes None None
HP:0007433 None None None
HP:0100346 Fibular deviation of the 5th toe None None
HP:0007498 None None None
HP:0007953 None None None
HP:0000355 None None None
HP:0009534 Triangular epiphysis of the proximal phalanx of the 2nd finger None None
HP:0003650 None None None
HP:0012134 Dysplastic erythropoesis None None
HP:0002338 None None None
HP:0004709 None None None
HP:0000749 Paroxysmal bursts of laughter None None
HP:0000261 None None None
HP:0009846 Curved middle phalanges of the hand None None
HP:0007255 None None None
HP:0008453 Congenital kyphoscoliosis None None
HP:0003539 None None None
HP:0100105 Irregular epiphysis of the distal phalanx of the 2nd toe None None
HP:0003616 Premature separation of centromeric heterochromatin None None
HP:0004593 None None None
HP:0001190 None None None
HP:0040035 Abnormality of the fourth metatarsal bone None None
HP:0002433 None None None
HP:0007427 Reticulated skin pigmentation None None
HP:0003877 Oval transradiancy of humerus None None
HP:0003659 None None None
HP:0033463 obsolete Elevated circulating palmitoleylcarnitine concentration None None
HP:0008485 None None None
HP:0001035 None None None
HP:0003032 None None None
HP:0001108 None None None
HP:0006592 None None None
HP:0004268 Osteoarthritis of the small joints of the hand None None
HP:0008980 None None None
HP:0006003 None None None
HP:0031214 Decreased circulating dehydroepiandrosterone concentration None None
HP:0100496 Abnormality of the vitamin B3 metabolism None None
HP:0030503 Macular telangiectasia None None
HP:0006217 Limited mobility of proximal interphalangeal joint None None
HP:0001612 Weak cry None None
HP:0004700 None None None
HP:0001608 Abnormality of the voice None None
HP:0000584 Punctate corneal epithelial erosions None None
HP:0034334 None None None
HP:0009107 Abnormal ossification involving the femoral head and neck None None
HP:0008654 None None None
HP:0006049 None None None
HP:0002258 None None None
HP:0009874 None None None
HP:0100452 Osteolytic defects of the middle phalanx of the 3rd toe None None
HP:0001774 None None None
HP:0002293 Alopecia of scalp None None
HP:0004507 None None None
HP:0007314 obsolete White matter neuronal heterotopia None None
HP:0100130 Small epiphysis of the proximal phalanx of the 2nd toe None None
HP:0000909 None None None
HP:0006786 None None None
HP:0100475 Symphalangism affecting the proximal phalanx of the 5th toe None None
HP:0004287 Pointed hand bones None None
HP:0007114 None None None
HP:0040072 Abnormal forearm bone morphology None None
HP:0009523 Triangular epiphysis of the middle phalanx of the 2nd finger None None
HP:0007436 Hair-nail ectodermal dysplasia None None
HP:0002259 None None None
HP:0100143 Small epiphysis of the distal phalanx of the 3rd toe None None
HP:0007568 None None None
HP:0005418 None None None
HP:0004587 None None None
HP:0030611 Retinal pigment epithelial loss on macular OCT None None
HP:0001380 obsolete Ligamentous laxity None None
HP:0010642 None None None
HP:0030629 Perifoveal ring of hyperautofluorescence None None
HP:0001960 Hypokalemic metabolic alkalosis None None
HP:0008910 None None None
HP:0003164 Hypothalamic gonadotropin-releasing hormone deficiency None None
HP:0009010 None None None
HP:0006550 None None None
HP:0040066 obsolete Abnormal morphology of bones of the lower limbs None None
HP:0008483 Cervical vertebral bodies with decreased anteroposterior diameter None None
HP:0100933 Sclerosis of the proximal phalanx of the 4th toe None None
HP:0025015 Abnormal vascular morphology None None
HP:0001939 Abnormality of metabolism/homeostasis None None
HP:0100810 Pointed helix None None
HP:0000209 None None None
HP:0002940 None None None
HP:0007392 Excessive wrinkled skin None None
HP:0005322 Prominent nasal septum None None
secondary_consequence None None None
HP:0003323 Progressive muscle weakness None None
HP:0030556 Best corrected visual acuity 0.3 LogMAR None None
HP:0006319 None None None
HP:0004647 None None None
HP:0008590 None None None
HP:0008421 Tall lumbar vertebral bodies None None
HP:0001164 None None None
HP:0004405 Prominent nipples None None
HP:0035013 Abnormal extrahepatic bile duct morphology None None
HP:0001532 None None None
HP:0001205 None None None
HP:0004999 None None None
HP:0008834 None None None
HP:0100814 Blue nevus None A solitary, bluish, smooth surfaced macule, papule or plaque that is generally round or oval in shape. The histopathology of blue nevi varies by subtype, but general characteristics include a vertical wedge or bulbous shaped proliferation of spindle cells, dendritic melanocytes, and melanophages into a sclerotic dermis or subcutis.
HP:0006867 None None None
HP:0005299 obsolete Premature peripheral vascular disease None None
HP:0010356 Abnormality of the distal phalanx of the 2nd toe None None
HP:0008859 None None None
HP:0005383 None None None
HP:0005187 Progressive joint destruction None None
HP:0006857 None None None
HP:0040046 Abnormal left hemidiaphragm morphology None None
HP:0010962 obsolete Extralobar sequestration A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura. None
HP:0003407 None None None
HP:0008370 None None None
HP:0001219 None None None
HP:0100502 Decreased circulating vitamin B12 concentration None The concentration of vitamin B12 in the blood circulation is below the lower limit of normal.
HP:0003054 None None None
HP:0002073 Progressive cerebellar ataxia None None
HP:0005111 obsolete Dilatation of the ascending aorta None None
HP:0012141 None None None
HP:0004517 None None None
HP:0005882 Dermatoglyphic variants None None
HP:0003578 None None None
HP:0032475 6-layered lissencephaly None None
HP:0000184 None None None
HP:0004909 Hypokalemic hypochloremic metabolic alkalosis None None
HP:0100713 None None None
HP:0001415 None None None
HP:0010434 Aplasia of the middle phalanx of the 2nd toe None None
HP:0003522 None None None
HP:0004179 None None None
HP:0002484 None None None
HP:0100099 Abnormality of the epiphysis of the proximal phalanx of the 5th toe None None
HP:0005841 Calcific stippling of infantile cartilaginous skeleton None None
HP:0000869 Secondary amenorrhea None None
HP:0007762 None None None
HP:0008886 None None None
HP:0008762 Repetitive compulsive behavior None None
HP:0005813 None None None
HP:0006094 Finger joint hypermobility None None
HP:0008545 None None None
HP:0004169 None None None
HP:0002975 None None None
HP:0010430 Aplasia of the phalanges of the 2nd toe None None
HP:0000810 None None None
HP:0040056 Absent upper eyelashes None None
HP:0100138 Enlarged epiphysis of the distal phalanx of the 3rd toe None None
HP:0008621 None None None
HP:0008958 None None None
HP:0045036 Abnormal urinary copper concentration None None
HP:0000891 Cervical ribs None None
HP:0045004 Abnormal ossification of the trapezoid bone None None
HP:0005976 Hyperkalemic metabolic acidosis None None
HP:0006811 None None None
HP:0001778 None None None
HP:0000249 None None None
HP:0100286 None None None
HP:0001925 None None None
HP:0002038 Protein avoidance None None
HP:0006439 Radioulnar dislocation None None
HP:0003489 Acute episodes of neuropathic symptoms None None
HP:0100229 Irregular epiphysis of the proximal phalanx of the 5th toe None None
HP:0004154 None None None
HP:0030472 Abnormal light-adapted single flash electroretinogram None None
HP:0007996 None None None
HP:0007278 None None None
HP:0003280 None None None
HP:0005191 Congenital knee dislocation None None
HP:0100844 Pancreatic fistula None None
HP:0004538 None None None
HP:0000187 Broad alveolar ridges None None
HP:0001143 None None None
HP:0007603 Freckles in sun-exposed areas None None
HP:0004793 None None None
HP:0007980 Absent retinal pigment epithelium None None
HP:0006800 None None None
HP:0005091 None None None
HP:0040263 Jaw ankylosis None None
HP:0001011 obsolete Diaphoresis (with pheochromocytoma) None None
HP:0007880 Marginal corneal dystrophy None None
HP:0100307 Cerebellar hemisphere hypoplasia None None
HP:0000607 Periorbital wrinkles None None
HP:0005738 None None None
HP:0004406 Spontaneous, recurrent epistaxis None None
HP:0007865 None None None
HP:0008632 None None None
HP:0000513 None None None
HP:0030487 Abnormal P50/N95 ratio of pattern electroretinogram None None
HP:0003441 None None None
HP:0001777 None None None
HP:0000595 None None None
HP:0010411 Triangular shaped middle phalanx of the 2nd toe None None
HP:0005666 None None None
HP:0002457 Abnormal head movements None None
HP:0032703 obsolete Hallucinatory aura None None
HP:0005200 Retroperitoneal fibrosis None None
HP:0002481 None None None
HP:0040123 Impairment of the reflex of the tensor tympani muscle None None
HP:0003525 None None None
HP:0008719 None None None
HP:0008407 Hyperconvex thumb nails None None
HP:0002256 Small bowel diverticula None None
HP:0040215 obsolete Abnormal circulating insulin level None None
HP:0010380 Abnormality of the distal phalanx of the 4th toe None None
HP:0002374 Diminished movement None None
HP:0005969 None None None
HP:0034041 obsolete Ventricular ectopy Ventricular ectopics, also known as ventricular extrasystoles, premature ventricular contractions or complexes (PVC) and ventricular premature depolarisations (VPD) are beats arising from within the ventricles. When they occur in groupings such as bigeminy, trigeminy, couplets and triplets they are referred to as ventricular ectopy. None
HP:0003070 Elbow ankylosis None None
HP:0004296 Abnormal gastrointestinal vascular morphology None None
HP:0100049 Irregular epiphyses of the 2nd toe None None
HP:0006662 None None None
HP:0010390 Triangular shaped phalanges of the 5th toe None None
HP:0000596 None None None
HP:0008027 None None None
HP:0010056 Abnormality of the epiphyses of the hallux None None
HP:0001079 None None None
HP:0008781 None None None
HP:0007399 None None None
HP:0002820 None None None
HP:0003929 Ground glass opacity of humeral diaphysis None None
HP:0007650 Progressive ophthalmoplegia None None
HP:0009409 None None None
HP:0004301 None None None
HP:0005919 None None None
HP:0009639 None None None
HP:0001045 Vitiligo None None
HP:0003434 Sensory ataxic neuropathy None None
HP:0008410 Subungual hyperkeratotic fragments None None
HP:0007189 None None None
HP:0003662 None None None
HP:0008436 Absent/hypoplastic coccyx None None
HP:0009033 None None None
HP:0011101 None None None
HP:0004497 None None None
HP:0006272 None None None
HP:0007529 Hidrotic ectodermal dysplasia None None
HP:0005700 Increased bone density with cystic changes None None
HP:0007896 None None None
HP:0006622 None None None
HP:0004834 None None None
HP:0008508 None None None
HP:0030933 1-minute APGAR score of 6 None None
HP:0000106 None None None
HP:0010348 Broad phalanges of the 2nd toe None None
HP:0040052 Abnormality of lower eyelashes None None
HP:0009925 None None None
HP:0003848 Cupped metaphyses of the upper limbs None None
HP:0002502 None None None
HP:0010581 None None None
HP:0000784 None None None
HP:0003984 Posteriorly dislocated ulna None None
HP:0003773 None None None
HP:0002941 None None None
HP:0007372 Atrophy/Degeneration involving the corticospinal tracts None None
HP:0002569 None None None
HP:0009850 Triangular shaped middle phalanges of the hand None None
HP:0002828 Multiple joint contractures None None
HP:0025533 Peau d'orange None None
HP:0008646 None None None
HP:0040221 Hypoplasia of the dental root None None
HP:0001399 Hepatic failure None None
HP:0007264 None None None
HP:0005664 None None None
HP:0001465 Amyotrophy involving the shoulder musculature None None
HP:0005457 None None None
HP:0007057 Poor hand-eye coordination None None
HP:0011698 Supraventricular tachycardia with a manifest accessory pathway on the septum None None
HP:0000199 Tongue nodules None None
HP:0025539 Abnormal B cell subset distribution None None
HP:0008006 None None None
HP:0000328 None None None
HP:0030523 obsolete Peripheral visual field constriction with 40-50 degrees central field preserved None None
HP:0001607 Subglottic stenosis None None
HP:0003708 None None None
HP:0200076 None None None
HP:0004778 None None None
HP:0001329 None None None
HP:0004356 Abnormality of lysosomal metabolism None None
HP:0100102 Cone-shaped epiphysis of the distal phalanx of the 2nd toe None None
HP:0002440 None None None
HP:0040114 Absence of the reflex of the tensor tympani muscle None None
HP:0011806 None None None
HP:0100729 Large face None None
HP:0006749 Malignant gastrointestinal tract tumors None None
HP:0007169 None None None
HP:0001026 Penetrating foot ulcers None None
HP:0031900 obsolete Abnormal serum tryptase concentration None None
HP:0005274 Prominent nasal tip None None
HP:0006056 None None None
HP:0008325 None None None
HP:0100487 Triangular shaped distal phalanx of the 5th toe None None
HP:0010770 Pilonidal fistula None None
HP:0100720 Hypoplasia of the ear cartilage None None
HP:0010336 Abnormality of the phalanges of the 4th toe None None
HP:0001813 None None None
HP:0003627 None None None
HP:0004367 obsolete Abnormality of glycoprotein metabolism None None
HP:0005708 None None None
HP:0008612 None None None
HP:0005957 Breathing dysregulation None None
HP:0004506 None None None
HP:0007461 Hemangiomatosis None None
HP:0003224 Increased cellular sensitivity to UV light None None
HP:0008218 None None None
HP:0007560 Unusual dermatoglyphics None None
HP:0007981 obsolete Concentric narrowing of visual field None None
HP:0005911 None None None
HP:0009096 None None None
HP:0004149 None None None
HP:0001400 obsolete Hepatic abscesses due to immunodeficiency None None
HP:0040086 Abnormal prolactin level None None
HP:0002276 None None None
HP:0005659 Thoracic kyphoscoliosis None None
HP:0100787 Prostate neoplasm None None
HP:0008979 None None None
HP:0004628 None None None
HP:0003590 None None None
HP:0410068 obsolete Increased level of L-glutamic acid in blood None None
HP:0007055 None None None
HP:0002358 None None None
HP:0040167 Facial papilloma None None
HP:0002081 None None None
HP:0008951 None None None
HP:0030296 Metaphyseal chondromatosis of radius None None
HP:0010343 Aplasia/Hypoplasia of the 5th toe None None
HP:0040122 Impairment of the the acoustic reflex None None
HP:0008099 None None None
HP:0008481 None None None
HP:0010354 Triangular shaped phalanges of the 2nd toe None None
HP:0003910 Enlarged humeral metaphyses None None
HP:0010115 Cone-shaped epiphyses of the hallux None None
HP:0009480 None None None
HP:0009361 None None None
HP:0034053 Decreased acid ceramidase activity None None
HP:0008047 Abnormality of the vasculature of the eye None None
HP:0004477 None None None
HP:0001835 None None None
HP:0005582 None None None
HP:0005193 Restricted large joint movement None None
HP:0007083 Hyperactive patellar reflex None None
HP:0003399 None None None
HP:0100906 Sclerosis of the middle phalanx of the 4th finger None None
HP:0006180 Crowded carpal bones None None
HP:0004549 None None None
HP:0001531 Failure to thrive in infancy None None
HP:0200015 Symmetric great toe depigmentation None None
HP:0008380 None None None
HP:0007640 None None None
HP:0040145 Dicarboxylic acidemia None None
HP:0008790 None None None
HP:0005806 None None None
HP:0005238 Discrete intestinal polyps None None
HP:0045083 obsolete Increased body mass index None None
HP:0003238 Hyperpepsinogenemia I None None
HP:0002212 Curly hair None None
HP:0003114 obsolete Abnormal cardiological findings None None
HP:0008516 Abnormality of the vertebral spinous processes None None
HP:0002596 None None None
HP:0034822 Abnormal CSF ion concentration None None
HP:0001037 None None None
HP:0010623 None None None
HP:0004123 None None None
HP:0003255 None None None
HP:0025622 obsolete Decreased proportion of CD4+ central memory cells None None
HP:0040033 Aplasia/Hypoplasia of the fifth metatarsal bone None None
HP:0001559 None None None
HP:0100334 Unilateral cleft palate None None
HP:0005672 None None None
HP:0004883 None None None
HP:0003046 None None None
HP:0001472 obsolete Familial predisposition None None
HP:0008761 None None None
HP:0008853 None None None
HP:0006062 None None None
HP:0003424 None None None
HP:0005475 None None None
HP:0007548 obsolete Palmoplantar keratosis with erythema and scale None None
HP:0007900 Hypoplastic lacrimal duct None None
HP:0009097 None None None
HP:0003427 Thenar muscle weakness None None
HP:0100761 Visceral angiomatosis None None
HP:0006768 Localized neuroblastoma None None
HP:0003152 obsolete Increased serum 1,25-dihydroxyvitamin D3 None None
HP:0000353 None None None
HP:0030524 obsolete Peripheral visual field constriction with 30-39 degrees central field preserved None None
HP:0003178 None None None
HP:0001672 None None None
HP:0002880 obsolete Respiratory difficulties None None
HP:0004910 Bicarbonate-wasting renal tubular acidosis None None
HP:0100294 None None None
HP:0008219 None None None
HP:0008201 None None None
HP:0004291 Stippled calcification of hand bones None None
HP:0004125 None None None
HP:0100065 Triangular epiphyses of the 3rd toe None None
HP:0007118 None None None
HP:0003854 Sclerosis of metaphyses of the upper limbs None None
HP:0008414 Lumbar kyphosis in infancy None None
HP:0001565 None None None
HP:0100718 Uterine rupture None None
HP:0011783 Thyrotoxicosis from ectopic thyroid tissue None None
HP:0030532 Visual acuity test abnormality None None
HP:0001021 None None None
HP:0007600 None None None
HP:0002441 None None None
HP:0002678 Skull asymmetry None None
HP:0007016 Corticospinal tract hypoplasia None None
HP:0001314 None None None
HP:0008292 None None None
HP:0005827 None None None
HP:0007480 Decreased sweating due to autonomic dysfunction None None
HP:0006115 None None None
HP:0009061 None None None
HP:0007244 None None None
HP:0008836 None None None
HP:0030598 Abnormal Humphrey SITA 10-2 perimetry test None None
HP:0003509 None None None
HP:0002766 Relatively short spine None None
HP:0006901 obsolete Impaired thermal sensitivity None None
HP:0000753 Autism with high cognitive abilities None None
HP:0010260 Enlarged epiphyses of the middle phalanges of the hand None None
HP:0002109 obsolete Abnormality of the bronchi None None
HP:0004090 obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis None None
HP:0003192 None None None
HP:0005814 None None None
HP:0007466 Midfrontal capillary hemangioma None None
HP:0006756 Diffuse leiomyomatosis None None
HP:0008091 None None None
HP:0006526 None None None
HP:0430026 obsolete Abnormality of the shape of the midface None None
HP:0009707 Synostosis involving the 4th metacarpal None None
HP:0040298 Hyperplasia of the endometrium None None
HP:0003504 None None None
HP:0002962 None None None
HP:0003129 None None None
HP:0030506 Yellow/white lesions of the retina None None
HP:0200139 None None None
HP:0003999 Abnormality of radial epiphyses None None
HP:0008977 None None None
HP:0100235 Synostosis involving bones of the toes None None
HP:0007136 None None None
HP:0100044 Absent epiphyses of the 2nd toe None None
HP:0005377 None None None
HP:0010119 Ivory epiphyses of the hallux None None
HP:0010572 None None None
HP:0008982 None None None
HP:0100195 Fragmentation of the epiphysis of the proximal phalanx of the 4th toe None None
HP:0004198 obsolete Wide/broad phalanges of the ring finger None None
HP:0004163 None None None
HP:0200074 None None None
HP:0005629 None None None
HP:0010083 Triangular shaped distal phalanx of the hallux None None
HP:0000302 None None None
HP:0100132 Triangular epiphysis of the proximal phalanx of the 2nd toe None None
HP:0004010 Small radial epiphyses None None
HP:0011415 Calcified placenta None None
HP:0001006 obsolete Hypotrichosis None None
HP:0002261 None None None
HP:0004838 None None None
HP:0008343 None None None
HP:0006776 None None None
HP:0008409 None None None
HP:0001673 obsolete Tachycardia (with pheochromocytoma) None None
HP:0008825 None None None
HP:0010161 Abnormal toe phalanx morphology None None
HP:0010152 Enlarged epiphysis of the 1st metatarsal None None
HP:0007061 None None None
HP:0001168 None None None
HP:0006247 Enlarged interphalangeal joints None None
HP:0008674 None None None
HP:0008965 None None None
HP:0000936 None None None
HP:0007327 Mixed demyelinating and axonal polyneuropathy None None
HP:0006945 None None None
HP:0002822 Hyperplasia of the femoral trochanters None None
HP:0030555 Best corrected visual acuity 0.2 LogMAR None None
HP:0006962 Gait instability, worse in the dark None None
HP:0009139 Osteolysis involving bones of the lower limbs None None
HP:0006631 Hypoplastic distal segments of scapulae None None
HP:0007237 None None None
hposlim_core None None None
HP:0003582 None None None
HP:0010408 Osteolytic defects of the middle phalanx of the 2nd toe None None
HP:0001076 Glabellar hemangioma None None
HP:0005189 None None None
HP:0008890 Severe short-limb dwarfism None None
HP:0200058 Angiosarcoma None None
HP:0008656 Incomplete male pseudohermaphroditism None None
HP:0005459 None None None
HP:0002111 obsolete Restrictive deficit on pulmonary function testing None None
HP:0007364 Aplasia/Hypoplasia of the cerebrum None None
HP:5200120 Abnormality in emotional social interactions None None
HP:0009500 Abnormality of the epiphysis of the middle phalanx of the 2nd finger None None
HP:0000658 Eyelid apraxia None None
HP:0100782 None None None
HP:0004590 Hypoplastic sacrum None None
HP:0001275 None None None
RO:0002314 inheres in part of None None
HP:0007907 None None None
HP:0003333 Increased serum beta-hexosaminidase None None
HP:0100125 Enlarged epiphysis of the proximal phalanx of the 2nd toe None None
HP:0000424 None None None
HP:0007204 Diffuse white matter abnormalities None None
HP:0007845 None None None
HP:0008033 obsolete Congenital exotropia None None
HP:0030932 1-minute APGAR score of 5 None None
HP:0004093 None None None
HP:0005083 None None None
HP:0011357 obsolete Abnormality of hair density None None
HP:0007698 obsolete Retinal pigment epithelial atrophy None None
HP:0007232 Spinocerebellar tract disease in lower limbs None None
HP:0007591 None None None
HP:0006074 None None None
HP:0200108 Shortened outer dynein arms None None
HP:0100214 Bracket epiphysis of the middle phalanx of the 5th toe None None
HP:0003598 None None None
HP:0001179 None None None
HP:0006964 Cerebral cortical neurodegeneration None None
HP:0006961 Jerky head movements None None
HP:0100964 None None None
HP:0002473 None None None
HP:0006440 Increased density of long bone diaphyses None None
HP:0100908 Sclerosis of the proximal phalanx of the 2nd finger None None
HP:0009854 Curved proximal phalanges of the hand None None
HP:0005717 None None None
HP:0001213 None None None
HP:0002513 None None None
HP:0005704 None None None
HP:0007920 obsolete Congenital chorioretinal dystrophy None None
HP:0004875 Neonatal inspiratory stridor None None
HP:0003739 Myoclonic spasms None None
HP:0005287 None None None
HP:0011398 obsolete Central hypotonia None None
HP:0005778 None None None
HP:0006186 None None None
HP:0007715 Weak extraocular muscles None None
HP:5200135 Delay in the acquisition of play skills None None
HP:0003889 Abnormal deltoid tuberosity morphology None None
HP:0005572 Decreased renal tubular phosphate excretion None None
HP:0010210 Triangular shaped proximal phalanges of the toes None None
HP:0002559 None None None
HP:0001207 None None None
HP:0002359 Frequent falls None None
HP:0030484 Supernormal dark-adapted bright flash electroretinogram b-wave None None
HP:0007748 obsolete Irido-fundal coloboma None None
HP:0005114 obsolete Abnormalities of the peripheral arteries None None
HP:0003986 Exostoses of the radius None None
HP:0004016 Cupped radial metaphyses None None
HP:0007577 None None None
HP:0008806 None None None
HP:0004239 Proximally placed carpal bones None None
HP:0007622 None None None
HP:0008837 None None None
HP:0001715 None None None
HP:0005229 Jejunoileal ulceration None None
HP:0002026 None None None
HP:0030462 Abnormal amplitude of flash visual evoked potentials None None
HP:0100345 Tibial deviation of the 2nd toe None None
HP:0040077 obsolete Abnormal concentration of calcium in blood None None
HP:0002281 obsolete Gray matter heterotopias None None
HP:0004611 Anterior concavity of thoracic vertebrae None None
HP:0007096 Hypoplasia of the optic tract None None
HP:0000397 None None None
HP:0003485 None None None
HP:0009367 None None None
HP:0002601 Paresis of extensor muscles of the big toe None None
HP:0008040 None None None
HP:0009619 None None None
HP:0040191 Rectus femoris muscle atrophy None None
HP:0008578 None None None
HP:0008999 None None None
HP:0005492 None None None
HP:0008540 None None None
HP:0005140 None None None
HP:0002456 None None None
HP:0002611 Cholestatic liver disease None None
HP:0007501 Streaks of hyperkeratosis along each finger onto the palm None None
HP:0002137 None None None
HP:0001484 None None None
HP:0009847 Osteolytic defects of the middle phalanges of the hand None None
HP:0002956 None None None
HP:0002497 Spastic ataxia None None
HP:0000412 None None None
HP:0001203 None None None
HP:0005127 None None None
HP:0006848 None None None
HP:0000780 None None None
HP:0005516 None None None
HP:0030597 Abnormal Humphrey SITA 24-2 perimetry test None None
HP:0008670 Partial vaginal septum None None
HP:0000226 None None None
HP:0006135 Decreased finger mobility None None
HP:0002340 Caudate atrophy None None
HP:0008120 None None None
HP:0006627 None None None
HP:0002344 Progressive neurologic deterioration None None
HP:0005000 None None None
HP:0008852 None None None
HP:0100888 Interdigital loops None None
HP:0002943 Thoracic scoliosis None None
HP:0001610 None None None
HP:0006963 None None None
HP:0025049 Abnormal brain creatine level by MRS None None
HP:0003718 None None None
HP:0000432 None None None
HP:0004168 obsolete Radially pointed proximal middle-finger phalanx None None
HP:0012445 None None None
HP:0008474 None None None
HP:0200141 Small, conical teeth None None
HP:0030694 Pineal parenchymal cell neoplasm None None
HP:0001099 Fundus atrophy None None
HP:0008397 None None None
HP:0010401 Symphalangism affecting the proximal phalanx of the 2nd toe None None
HP:0001242 None None None
HP:0001418 None None None
HP:5200131 Reduced use of language for social purposes None None
HP:0100048 Fragmentation of the epiphyses of the 2nd toe None None
HP:0030590 Abnormal Amsler grid test None None
HP:0000423 None None None
HP:0003684 None None None
HP:0002093 Respiratory insufficiency None None
HP:0030596 Abnormal Humphrey SITA 30-2 perimetry test None None
HP:0005076 None None None
HP:0006317 None None None
HP:0045037 Abnormality of jaw muscles None None
HP:0100085 Small epiphyses of the 5th toe None None
HP:0200088 None None None
HP:0040008 Aplasia of facial bones None None
HP:0010326 Deviation of the 2nd toe None None
HP:0031070 obsolete Femoral retroversion None None
HP:0006086 Thin metacarpal cortices None None
HP:0100455 Osteolytic defects of the proximal phalanx of the 3rd toe None None
HP:0006096 None None None
HP:0034792 Decreased muscle succinate dehydrogenase staining None None
HP:0034372 Internal tibial torsion None None
HP:0100470 Symphalangism affecting the middle phalanx of the 3rd toe None None
HP:0008427 None None None
HP:0004140 None None None
HP:0004171 None None None
HP:0006537 None None None
HP:0006722 Small intestine carcinoid None None
HP:0006360 None None None
HP:0006032 None None None
HP:0006199 None None None
HP:0007815 Abnormal distribution of retinal arterioles and venules None None
HP:0006458 None None None
HP:0003915 Lytic defects of the humeral metaphysis None None
HP:0000165 None None None
HP:0004124 None None None
HP:0000548 Cone/cone-rod dystrophy None None
HP:0009527 Enlarged epiphysis of the proximal phalanx of the 2nd finger None None
HP:0006997 None None None
HP:0007897 None None None
HP:0000800 Cystic renal dysplasia None None
HP:0009860 None None None
HP:0002969 None None None
HP:0100183 Enlarged epiphysis of the middle phalanx of the 4th toe None None
HP:0006041 None None None
HP:0008645 None None None
HP:0007044 None None None
HP:0004148 None None None
HP:0003895 Flattened humeral epiphyses None None
HP:0008263 Thyroid defect in oxidation and organification of iodide None None
HP:0007527 None None None
HP:0100234 Triangular epiphysis of the proximal phalanx of the 5th toe None None
HP:0008657 None None None
HP:0009870 None None None
HP:0002662 None None None
HP:0007954 None None None
HP:0003478 None None None
HP:0001861 None None None
HP:0000109 None None None
HP:0009567 None None None
HP:0003104 None None None
HP:0002735 None None None
HP:0100473 Symphalangism affecting the proximal phalanx of the 3rd toe None None
HP:0007271 Occipital myelomeningocele None None
HP:0004250 Proximally placed lunate None None
HP:0004275 Duplication of hand bones None None
HP:0001998 Neonatal hypoglycemia None None
HP:0008236 Isosexual precocious puberty None None
HP:5200361 Prolonged rem sleep None None
HP:0002469 None None None
HP:0005509 None None None
HP:0008861 None None None
HP:0005260 None None None
HP:0100741 None None None
HP:0100190 Triangular epiphysis of the middle phalanx of the 4th toe None None
HP:0500239 Increased CSF albumin concentration None None
HP:0008637 None None None
HP:0010410 Symphalangism affecting the middle phalanx of the 2nd toe None None
HP:0006694 Early progressive calcific cardiac valvular disease None None
HP:0007299 Dysfunction of lateral corticospinal tracts None None
HP:0005071 None None None
HP:0004084 None None None
HP:0004277 Fractured hand bones None None
HP:0010351 Osteolytic defects of the phalanges of the 2nd toe None None
HP:0002954 None None None
HP:0040147 L-2-hydroxyglutaric acidemia None None
HP:0004281 Irregular sclerosis of hand bones None None
HP:0007225 None None None
HP:0200009 None None None
HP:0006574 Hepatic arteriovenous malformation None None
HP:0003881 Humeral sclerosis None None
HP:0003594 None None None
HP:0005478 Prominent frontal sinuses None None
HP:0004028 Spurs of radial diaphysis None None
HP:0006542 None None None
HP:0001463 None None None
HP:0030960 obsolete Abnormal pupillary morphology None None
HP:0007923 obsolete Foveal hyperplasia None None
HP:0032364 obsolete Abnormal CSF amino acid level None None
HP:0006672 None None None
HP:0008317 None None None
HP:0005928 Synostosis involving the fibula None None
HP:0007239 Congenital encephalopathy None None
HP:0040032 Hypoplasia of the upper eyelids None None
HP:0005358 None None None
HP:0008605 Unilateral external ear deformity None None
HP:0003018 None None None
HP:0009881 Aplasia of the distal phalanges of the hand None None
HP:0007357 None None None
HP:0003147 None None None
HP:0006359 None None None
HP:0004261 Wide hamate bone None None
HP:4000012 Necrotizing ileitis None None
HP:0005727 None None None
HP:0003148 Elevated serum acid phosphatase None None
HP:0001150 obsolete Choroidal sclerosis None None
HP:0007581 Mediosternal, longitudinal streak of hypopigmentation None None
HP:0005594 None None None
HP:0004048 Narrow joint spaces of wrist None None
HP:0040039 Onycholysis of fingernails None None
HP:0007157 None None None
HP:0003949 Abnormal elbow metaphysis morphology None None
HP:0003257 None None None
HP:0007363 Aplasia/Hypoplasia of the pyramidal tract None None
HP:0007306 None None None
HP:0002620 None None None
HP:0100949 None None None
HP:0007580 None None None
HP:5200102 Reduced social smiling None None
HP:0002114 None None None
HP:0200080 None None None
HP:0032982 obsolete Intraalveolar phospholipid accumulation None None
HP:0005935 None None None
HP:0002479 None None None
HP:0006651 None None None
HP:0003858 Cortical diaphyseal irregularity of the upper limbs None None
HP:0009100 Thick anterior alveolar ridges None None
HP:0007664 None None None
HP:0003636 None None None
HP:0003679 Pace of progression None None
HP:0003901 Stippled calcification of the humeral epiphyses None None
HP:0007767 None None None
HP:0100076 Triangular epiphyses of the 4th toe None None
HP:0001968 None None None
HP:0008044 None None None
HP:0008898 None None None
HP:0007202 None None None
HP:0006449 Distal radial epiphyseal osteolysis None None
HP:0006674 None None None
HP:0005848 obsolete Bifid thumb distal phalanx None None
HP:0000425 None None None
HP:0004194 obsolete Hypoplastic phalanges of the ring finger None None
HP:0002547 None None None
HP:0004958 None None None
HP:0000865 None None None
HP:0010335 Abnormality of the epiphyses of the 4th toe None None
HP:0005292 Intimal thickening in the coronary arteries None None
HP:0009108 Aplasia/Hypoplasia involving the femoral head and neck None None
HP:0006928 None None None
HP:0010358 Abnormal morphology of the proximal phalanx of the 2nd toe None None
HP:0005154 None None None
HP:0004107 None None None
HP:0006854 None None None
HP:0006777 None None None
HP:0009408 Aplasia/Hypoplasia of the phalanges of the 4th finger None None
HP:0004811 None None None
HP:0007682 None None None
HP:0007628 Mandibular condyle hypoplasia None None
HP:0002412 None None None
HP:0010387 Osteolytic defects of the phalanges of the 5th toe None None
HP:0006116 None None None
HP:0003369 None None None
HP:0007935 Juvenile posterior subcapsular lenticular opacities None None
HP:0006639 None None None
HP:0006994 Diffuse leukoencephalopathy None None
HP:0010209 Symphalangism affecting the proximal phalanges of the toes None None
HP:0006209 Partial-complete absence of 5th phalanges None None
HP:0008295 None None None
HP:0006624 None None None
HP:0100732 Pancreatic fibrosis None None
HP:0001887 None None None
HP:0007221 Progressive truncal ataxia None None
HP:0005188 None None None
HP:0006939 None None None
HP:0100174 Irregular epiphysis of the distal phalanx of the 4th toe None None
HP:0003852 Normal density transverse bands in metaphyses of the upper limbs None None
HP:0001514 None None None
HP:0000354 None None None
HP:0004731 None None None
HP:0010417 Osteolytic defects of the distal phalanx of the 2nd toe None None
HP:0005689 Dermatoglyphic ridges abnormal None None
HP:0003962 None None None
HP:0006995 None None None
HP:0007212 None None None
HP:0008350 None None None
HP:0007145 None None None
HP:0003190 None None None
HP:0004159 None None None
HP:0010399 Osteolytic defects of the proximal phalanx of the 2nd toe None None
HP:0003331 None None None
HP:0007983 None None None
HP:0040150 Epiblepharon of upper lid None None
HP:0003958 Cross-fusion of the forearm bones None None
HP:0040160 Generalized osteoporosis None None
HP:0007621 Telangiectasia of extensor surfaces None None
HP:0030925 5-minute APGAR score of 5 None None
HP:0004436 None None None
HP:0008755 Laryngotracheomalacia None None
HP:0007509 Patchy hypo- and hyperpigmentation None None
HP:0005630 None None None
HP:0007111 Chronic hepatic encephalopathy None None
HP:0002928 Decreased activity of the pyruvate dehydrogenase complex None None
HP:0004105 None None None
HP:0006599 Medial widening of clavicles None None
HP:0040129 Abnormal nerve conduction velocity None None
HP:0002663 Delayed epiphyseal ossification None None
HP:0002348 None None None
HP:0002455 None None None
HP:0100213 Absent epiphysis of the middle phalanx of the 5th toe None None
HP:0006348 None None None
HP:0008864 None None None
HP:0002095 None None None
HP:0007756 obsolete Slitlike anterior chamber angles in children None None
HP:0040193 obsolete Pinealoblastoma None None
HP:0005551 None None None
HP:0010368 Abnormality of the distal phalanx of the 3rd toe None None
HP:0009288 Curved proximal phalanx of the 4th finger None None
HP:0007259 None None None
HP:0002096 None None None
HP:0002535 None None None
HP:0005760 None None None
HP:0100177 Small epiphysis of the distal phalanx of the 4th toe None None
HP:0007970 Congenital ptosis None None
HP:0005602 Progressive vitiligo None None
HP:0010737 None None None
HP:0006058 None None None
HP:0003404 None None None
HP:0004064 None None None
HP:0040017 Protruding coccyx None None
HP:0100696 None None None
HP:0009875 Triangular shaped distal phalanges of the hand None None
HP:0004260 Large hamate bone None None
HP:0009499 Abnormality of the epiphysis of the distal phalanx of the 2nd finger None None
HP:0005049 None None None
HP:0005335 Sleepy facial expression None None
HP:0006657 Hypoplasia of first ribs None None
HP:0006490 Abnormal lower-limb metaphysis morphology None None
HP:0006728 None None None
HP:0002855 None None None
HP:0003439 None None None
HP:0006377 None None None
HP:0010168 Ivory epiphyses of the toes None None
HP:0001365 None None None
HP:0002295 None None None
HP:0004483 None None None
HP:0034116 obsolete Anti-thyrotropin receptor antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against thyrotropin receptor antibody. None
HP:0005796 None None None
HP:0004837 None None None
HP:0008041 Late onset congenital glaucoma None None
HP:0007679 None None None
HP:0004643 None None None
HP:0007694 None None None
HP:0010073 Synostosis involving the 1st metatarsal None None
HP:0006790 Cerebral cortex with spongiform changes None None
HP:0007890 None None None
HP:0000761 None None None
HP:0006178 None None None
HP:0007699 None None None
HP:0008389 None None None
HP:0007284 None None None
HP:0004696 Talipes cavus equinovarus None None
HP:0008891 None None None
HP:0000650 Abnormal amplitude of pattern reversal visual evoked potentials None None
HP:0005095 None None None
HP:0003122 None None None
HP:0008288 Nonketotic hyperglycinemia None None
HP:0001779 None None None
HP:0008894 None None None
HP:0007052 Multifocal cerebral white matter abnormalities None None
HP:0007784 None None None
HP:0009544 Abnormality of the proximal phalanx of the 2nd finger None None
HP:0031440 obsolete Abnormal tricuspid valve morphology None None
HP:0030614 Foveal photoreceptor layer loss on macular OCT None None
HP:0005019 Diaphyseal thickening None None
HP:0005634 None None None
HP:0010195 Broad middle phalanges of the toes None None
HP:0008058 Aplasia/Hypoplasia of the optic nerve None None
HP:0007518 None None None
HP:0045018 Partial duplication of eyebrows None None
HP:0006435 None None None
HP:0002648 obsolete Abnormality of calvarial morphology None None
HP:0410387 obsolete Decreased proportion of effector memory CD4-positive, alpha-beta T cells None None
HP:0040158 Short intermamillary distance None None
HP:0003920 Sloping humeral metaphysis None None
HP:0007458 Focal hyperextensible skin None None
HP:0004077 None None None
HP:0004577 None None None
HP:0006951 Retrocerebellar cyst None None
HP:0006189 Prominent interdigital folds None None
HP:0040063 Decreased adipose tissue None None
HP:0000147 Polycystic ovaries None None
HP:5200243 Abnormal change in social behavior None None
HP:0001330 None None None
HP:0007031 None None None
HP:0001183 None None None
HP:0100112 Bracket epiphysis of the middle phalanx of the 2nd toe None None
HP:0004525 None None None
HP:0002097 Emphysema None None
HP:0005201 Anomalous splenoportal venous system None None
HP:0006576 Hepatic vascular malformations None None
HP:0100664 None None None
HP:0002351 None None None
HP:0200125 Mitochondrial respiratory chain defects None None
HP:0030457 Abnormal amplitude of pattern onset/offset visual evoked potentials None None
HP:0003373 None None None
HP:0005915 None None None
HP:0008904 None None None
HP:0002443 None None None
HP:0007069 Profound static encephalopathy None None
HP:0200082 None None None
HP:0002776 None None None
HP:0003626 None None None
HP:0008766 None None None
HP:0007690 Map-dot-fingerprint corneal dystrophy None None
HP:0008497 Congenital craniofacial dysostosis None None
HP:0001244 None None None
HP:0003990 Pointed ulna None None
HP:0100691 Abnormality of the curvature of the cornea None None
HP:0001509 None None None
HP:0001353 None None None
HP:0001430 Abnormal calf musculature morphology None None
HP:0004136 None None None
HP:0006230 Unilateral oligodactyly None None
HP:0100478 Symphalangism affecting the distal phalanx of the 5th toe None None
HP:0001534 None None None
HP:0046506 Pain in head and neck region None None
HP:0007887 None None None
HP:0030475 Abnormal timing of dark-adapted dim flash electroretinogram None None
HP:0000487 obsolete Congenital strabismus None None
HP:0009151 None None None
HP:0031512 Abnormal cutaneous collagen fibril morphology None None
HP:0007927 None None None
HP:0007701 None None None
HP:0006088 1-5 finger complete cutaneous syndactyly None None
HP:0100499 Tibial deviation of toes None None
HP:0003669 None None None
HP:0000380 None None None
HP:0006714 Aplasia/Hypoplasia of the sternum None None
HP:0006019 Reduced proximal interphalangeal joint space None None
HP:0009334 Abnormality of the epiphysis of the middle phalanx of the 3rd finger None None
HP:0007506 Congenital absence of skin of limbs None None
HP:0005467 None None None
HP:0008604 None None None
HP:0005128 None None None
HP:0032931 obsolete Focal impaired awareness cognitive seizure with impaired attention None None
HP:0100073 Pseudoepiphyses of the 4th toe None None
HP:0010363 Osteolytic defects of the phalanges of the 3rd toe None None
HP:0200115 None None None
HP:0001906 None None None
HP:0007088 None None None
HP:0002532 None None None
HP:0000129 None None None
HP:0030481 Abnormal amplitude of light-adapted single flash electroretinogram None None
HP:0000702 None None None
HP:0007028 None None None
HP:0100202 Absent epiphysis of the distal phalanx of the 5th toe None None
HP:0011865 None None None
HP:0005843 None None None
HP:0005589 None None None
HP:0005472 Orbital craniosynostosis None None
HP:0008640 Congenital macroorchidism None None
HP:0002337 None None None
HP:0002747 Respiratory insufficiency due to muscle weakness None None
HP:0002369 None None None
HP:0005286 None None None
HP:0006177 None None None
HP:0033468 10-minute APGAR score of 0 None None
HP:0030518 Congruous homonymous hemianopia None None
HP:0007022 None None None
HP:0008023 None None None
HP:0030298 Metaphyseal chondromatosis of humerus None None
HP:0006553 None None None
HP:0005426 None None None
HP:0008176 Neonatal unconjugated hyperbilirubinemia None None
HP:0004976 Knee dislocation None None
HP:0000392 None None None
HP:0008482 Asymmetry of spinal facet joints None None
HP:0003342 None None None
HP:0008531 None None None
HP:0010278 Triangular epiphyses of the proximal phalanges of the hand None None
HP:0011778 Thyroid atypical adenoma None None
HP:0010789 Abnormality of the Leydig cells None None
HP:0008195 None None None
HP:0008029 None None None
HP:0004013 Medially fused radial epiphyseal plates None None
HP:0009858 Triangular shaped proximal phalanges of the hand None None
HP:0011777 Thyroid papillary adenoma None None
HP:0100342 Fibular deviation of the 3rd toe None None
HP:0200137 None None None
HP:0004805 None None None
HP:0008100 None None None
HP:0002755 obsolete Osteomyelitis due to immunodeficiency None None
HP:0006478 None None None
HP:0006396 None None None
HP:0034430 Abnormal joint physiology None None
HP:0010257 Absent epiphyses of the middle phalanges of the hand None None
HP:0007474 None None None
HP:0033286 Thickened glomerular basement membranes with electron dense deposits None None
HP:0000701 None None None
HP:0001703 None None None
HP:0034680 Forefoot adduction contracture None None
HP:0006643 Fused sternal ossification centers None None
HP:0005899 obsolete Metaphyseal dysostosis None None
HP:0000461 None None None
HP:0004759 obsolete Nodular calcific aortic valve disease None None
HP:0040163 Abnormal pelvis bone morphology None None
HP:0006953 None None None
HP:0008269 Increased red cell hemolysis by shear stress None None
HP:0040062 Slender radius None None
HP:0010250 Fragmentation of the epiphyses of the distal phalanges of the hand None None
HP:0000986 None None None
HP:0009006 None None None
HP:0100511 Abnormality of vitamin D metabolism None None
HP:0000688 None None None
HP:0004815 None None None
HP:0000930 Elevated imprint of the transverse sinuses None None
HP:0030624 Subretinal hyporeflective spaces on macular OCT None None
HP:0007045 Midline brain calcifications None None
HP:0100630 Neoplasia of the nasopharynx None None
HP:0001870 Acroosteolysis of distal phalanges (feet) None None
HP:0009134 Osteolysis involving bones of the feet None None
HP:0007651 Ectropion of lower eyelids None None
HP:0004543 None None None
HP:0006904 Late-onset spinocerebellar degeneration None None
HP:0003033 None None None
HP:0011007 None None None
HP:0007503 Generalized ichthyosis None None
HP:0010382 Abnormal morphology of the proximal phalanx of the 4th toe None None
HP:0008925 None None None
HP:0007861 None None None
HP:0004509 None None None
HP:0000844 None None None
HP:0002199 Hypocalcemic seizures None None
HP:0003686 None None None
HP:0001449 Duplication of metatarsal bones None None
HP:0410049 Abnormal radial ray morphology None None
HP:0100262 Synostosis involving digits None None
HP:0006584 Small abnormally formed scapulae None None
HP:0007403 Hypertrophy of skin of soles None None
HP:0003437 None None None
HP:0004564 None None None
HP:0007681 None None None
HP:0200150 Increased serum bile acid concentration during pregnancy None None
HP:0008132 Medial rotation of the medial malleolus None None
HP:0004612 None None None
HP:0005678 Anterior atlanto-occipital dislocation None None
HP:0006376 Limited elbow flexion None None
HP:0008377 None None None
HP:0001358 None None None
HP:0007350 Hyperreflexia in upper limbs None None
HP:0100686 Enthesitis None None
HP:0005859 None None None
HP:0006194 None None None
HP:0040178 Increased level of platelet-activating factor None None
HP:0007718 None None None
HP:0009607 None None None
HP:0005751 None None None
HP:0410007 obsolete Abnormality of cartilage morphology None None
HP:0005858 None None None
HP:0001378 None None None
HP:0007297 None None None
HP:0006984 obsolete Distal sensory loss of all modalities None None
HP:0007998 None None None
HP:0011337 Abnormality of mouth size None None
HP:0002432 None None None
HP:0006815 None None None
HP:0100116 Irregular epiphysis of the middle phalanx of the 2nd toe None None
HP:0008231 Macronodular adrenal hyperplasia None None
HP:0004201 obsolete Expanded proximal phalanx of the ring finger None None
HP:0006419 None None None
HP:0004533 None None None
GO:0000016 lactase activity None None
HP:0005878 Enlarged sagittal diameter of the cervical canal None None
HP:0006575 Intrahepatic cholestasis with episodic jaundice None None
HP:0006905 None None None
HP:0200112 None None None
HP:0006779 Alveolar rhabdomyosarcoma None None
HP:0007987 Progressive visual field defects None None
HP:0005604 None None None
HP:0004560 None None None
HP:0008009 Three rows of eyelashes None None
HP:0007368 None None None
HP:0004995 None None None
HP:0100937 Sclerosis of the middle phalanx of the 4th toe None None
HP:0100221 Small epiphysis of the middle phalanx of the 5th toe None None
HP:0007744 obsolete Iridoretinal coloboma None None
HP:0002483 Bulbar signs None None
HP:0006417 Broad femoral metaphyses None None
HP:0008250 obsolete Infantile hypercalcemia None None
HP:0006233 Osteoarthritis of the distal interphalangeal joint None None
HP:0004121 obsolete Radially displaced proximal index finger phalanx None None
HP:0010120 Pseudoepiphyses of the hallux None None
HP:0040107 Abnormal posterior semicircular canal morphology None None
HP:0007005 None None None
HP:0030464 Asymmetrical distribution of pattern reversal visual evoked potentials None None
HP:0003801 None None None
HP:0008461 Cervical vertebral facet hypoplasia None None
HP:0000305 None None None
HP:5200117 Poor recognition of injustice None None
HP:0005677 None None None
HP:0001675 obsolete Rhythm disturbances associated with pheochromocytoma None None
HP:0004501 None None None
HP:0002988 None None None
HP:0100182 Cone-shaped epiphysis of the middle phalanx of the 4th toe None None
HP:0009545 Symphalangism of the 2nd finger None None
HP:0001054 Numerous nevi None None
HP:0005319 None None None
HP:0007916 obsolete Small anterior lens surface opacities None None
HP:0004595 None None None
HP:0003315 None None None
HP:0000025 Functional abnormality of male internal genitalia None None
HP:0100137 Cone-shaped epiphysis of the distal phalanx of the 3rd toe None None
HP:0008084 None None None
HP:0001452 obsolete Autosomal dominant contiguous gene syndrome None None
HP:0005549 obsolete Congenital neutropenia None None
HP:0003791 Deposits immunoreactive to beta-amyloid protein None None
HP:0002298 Absent hair None None
HP:0010366 Triangular shaped phalanges of the 3rd toe None None
HP:0100561 Spinal cord lesion None None
HP:0006095 Wide tufts of distal phalanges None None
HP:0030078 Lung adenocarcinoma None None
HP:0008090 Ankylosis of feet small joints None None
HP:0008016 None None None
HP:0006307 None None None
HP:0007348 Hypoplasia of the pyramidal tract None None
HP:0006218 None None None
HP:0007792 Microsaccadic pursuit None None
HP:0008085 None None None
HP:0010142 Fragmentation of the epiphysis of the distal phalanx of the hallux None None
HP:0005675 None None None
HP:0007034 Generalized hyperreflexia None None
HP:0100385 Aplasia of the proximal phalanx of the 4th toe None None
HP:0001497 None None None
HP:0009699 Osteolytic defects of the hand bones None None
HP:0007911 Congenital bilateral ptosis None None
HP:0007847 None None None
HP:0003683 obsolete Large beaked nose None None
HP:0100299 Muscle fiber inclusion bodies None None
HP:0002319 None None None
HP:0007940 None None None
HP:0009479 None None None
HP:0031005 obsolete Hyperalgesia None None
HP:0008036 obsolete Rod-cone dystrophy None None
HP:0011774 Thyroid follicular adenoma None None
HP:0010191 Symphalangism affecting the distal phalanges of the toes None None
HP:0007553 Congenital symmetrical palmoplantar keratosis None None
HP:0000450 None None None
HP:0007547 None None None
HP:0007608 Abnormal palmar dermal ridges None None
HP:0008431 None None None
HP:0009867 None None None
HP:0005340 Spastic/hyperactive bladder None None
HP:0006667 None None None
HP:0033184 Triggered by infection None None
HP:0000279 None None None
HP:0004040 Corner fragments of ulnar metaphysis None None
HP:0004300 None None None
HP:0001961 Hypoplastic heart None None
HP:0002929 Leydig cell insensitivity to gonadotropin None None
HP:0006948 None None None
HP:0010007 None None None
HP:0004114 None None None
HP:0001286 None None None
HP:0040078 Axonal degeneration None None
HP:0005097 None None None
HP:0006252 Interphalangeal joint erosions None None
HP:0001429 None None None
HP:0002184 None None None
HP:0012090 Abnormal pancreas morphology None None
HP:0001823 None None None
HP:0007613 Spinous keratoses of palms and soles None None
HP:0006715 Glomus tympanicum paraganglioma None None
HP:0003465 Elevated 8(9)-cholestenol None None
HP:0006228 Valgus hand deformity None None
HP:0006681 Absent atrioventricular node None None
HP:0009128 Aplasia/Hypoplasia involving the musculature of the extremities None None
HP:0009069 Lethal infantile mitochondrial myopathy None None
HP:0005034 None None None
HP:0004189 None None None
HP:0031362 obsolete Sex-limited autosomal recessive inheritance None None
HP:0011277 Abnormality of the urinary system physiology None None
HP:0005175 None None None
HP:0007599 Generalized reticulate brown pigmentation None None
HP:0005500 None None None
HP:0005962 None None None
HP:0007382 None None None
HP:0040183 Encopresis None None
HP:0003841 Fragmented epiphyses of the upper limbs None None
HP:0033037 Migratory arthritis None None
HP:0030605 Abnormal indocyanine green angiography None None
HP:0007261 None None None
HP:0010057 Abnormal hallux phalanx morphology None None
HP:0003702 None None None
HP:0008059 Aplasia/Hypoplasia of the macula None None
HP:0030549 Unaided visual acuity 2.0 LogMAR None None
HP:0005612 Arthrogryposis-like hand anomaly None None
HP:0005624 None None None
HP:0007584 None None None
HP:0010375 Osteolytic defects of the phalanges of the 4th toe None None
HP:0010082 Symphalangism affecting the distal phalanx of the hallux None None
HP:0005226 None None None
HP:0008916 None None None
HP:0006907 None None None
HP:0002911 None None None
HP:0002831 Long coccyx None None
HP:0000333 None None None
HP:0100907 Sclerosis of the middle phalanx of the 5th finger None None
HP:0002189 obsolete Excessive daytime sleepiness None None
HP:0040015 Increased activity of mitochondrial respiratory chain None None
HP:0001616 None None None
HP:0002364 None None None
HP:0006711 Aplasia/Hypoplasia involving bones of the thorax None None
HP:0006372 None None None
HP:0008217 None None None
HP:0005851 None None None
HP:0007330 Frontal encephalocele None None
HP:0000875 Episodic hypertension None None
HP:0002147 None None None
HP:0005808 None None None
HP:0008638 None None None
HP:0100185 Irregular epiphysis of the middle phalanx of the 4th toe None None
HP:0011551 Right sided atrium to left ventricle and absent left sided atrioventricular connection None None
HP:0008262 None None None
HP:0009838 Curved distal phalanges of the hand None None
HP:0001793 None None None
HP:0001764 None None None
HP:0100201 Triangular epiphysis of the proximal phalanx of the 4th toe None None
HP:0006029 None None None
HP:0006820 None None None
HP:0005031 None None None
HP:0007562 None None None
HP:0006726 None None None
HP:0025621 obsolete Increased proportion of CD4+ central memory cells None None
HP:0001825 None None None
HP:0010334 Polydactyly affecting the 3rd toe None None
HP:0000833 obsolete Glucose intolerance None None
HP:0004556 None None None
HP:0002771 None None None
HP:0005433 None None None
HP:0003836 Stippled calcification of the shoulder None None
HP:0003251 Male infertility None None
HP:0003406 Peripheral nerve compression None None
HP:0000547 obsolete Tapetoretinal degeneration None None
HP:0004567 None None None
HP:0011021 Abnormality of circulating enzyme level None None
HP:0007659 obsolete Decreased retinal pigmentation with dispersion None None
HP:0005907 None None None
HP:0030536 Unaided visual acuity 0.1 LogMAR None None
HP:0030580 Pinhole visual acuity 1.2 LogMAR None None
HP:0001375 None None None
HP:0030628 Foveal subretinal hyporeflective spaces on macular OCT None None
HP:0005021 Bilateral elbow dislocations None None
HP:0032207 obsolete Abnormal cerebrospinal fluid metabolite concentration None None
HP:0002713 None None None
HP:0000788 None None None
HP:0008698 None None None
HP:0100477 Symphalangism affecting the distal phalanx of the 4th toe None None
HP:0032336 Increased circulating specific IgE antibody None None
HP:0006013 None None None
HP:0200095 obsolete Anterior open bite None None
HP:0100344 Fibular deviation of the 2nd toe None None
HP:0005668 None None None
HP:0004928 obsolete Peripheral arterial stenosis None None
HP:0005971 None None None
HP:0100113 Cone-shaped epiphysis of the middle phalanx of the 2nd toe None None
uk_spelling None None None
HP:0030476 Abnormal amplitude of dark-adapted dim flash electroretinogram None None
HP:0030601 Abnormal posterior segment imaging None None
HP:0005784 None None None
HP:0004885 Episodic respiratory distress None None
HP:0003569 None None None
HP:0007409 obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs None None
HP:0001313 None None None
HP:0002752 Sparse bone trabeculae None None
HP:0007171 None None None
HP:0004102 None None None
HP:0004142 None None None
HP:4000120 Triggered by nickel None None
HP:0000898 None None None
HP:0006983 obsolete Slowly progressive spastic quadriparesis None None
HP:0006351 None None None
HP:0005494 Premature posterior fontanelle closure None None
HP:0002790 Neonatal breathing dysregulation None None
HP:0008880 None None None
HP:0005777 None None None
HP:0010180 Triangular shaped phalanges of the toes None None
HP:0005015 None None None
HP:0005637 None None None
HP:0001615 Hoarse cry None None
HP:0006304 Widely-spaced incisors None None
HP:0005330 None None None
HP:0000671 None None None
HP:0005195 Polyarticular arthropathy None None
HP:0100054 Triangular epiphyses of the 2nd toe None None
HP:0003087 None None None
HP:0100098 Abnormality of the epiphysis of the middle phalanx of the 5th toe None None
HP:0040065 obsolete Abnormal morphology of bones of the upper limbs None None
HP:0003818 None None None
HP:0008197 Absence of pubertal development None None
HP:0006601 None None None
HP:0004152 None None None
HP:0007877 None None None
HP:0030607 Reduced OCT-measured macular thickness None None
HP:0004986 obsolete Rudimentary to absent fibulae None None
HP:0000693 None None None
HP:0100322 Aplasia of the pyramidal tract None None
HP:0003052 None None None
HP:0001209 None None None
HP:0001228 None None None
HP:0001957 None None None
HP:0003830 None None None
HP:0003442 None None None
HP:0004733 None None None
HP:0003816 None None None
HP:0011597 Right aortic arch with left descending aorta and left ductus arteriosus None None
HP:0007619 None None None
HP:0004072 None None None
HP:0006044 None None None
HP:0006261 Abnormal phalangeal joint morphology of the hand None None
HP:0004553 None None None
HP:0001934 Persistent bleeding after trauma None None
HP:0005862 None None None
HP:0001815 None None None
HP:0007705 Corneal degeneration None None
HP:0004200 None None None
HP:0008686 None None None
HP:0006401 None None None
HP:0007597 obsolete Congenital palmoplantar keratodermia None None
HP:0005068 Absent styloid process of ulna None None
HP:0006883 None None None
HP:0000755 None None None
HP:0004079 None None None
HP:0000530 None None None
HP:0008918 None None None
HP:0007746 None None None
HP:0005728 None None None
HP:0045014 Hypolipidemia None None
HP:0007254 None None None
HP:0004735 None None None
HP:0008769 None None None
HP:0003905 Abnormality of the humeral epiphyseal plate None None
HP:0006172 Flattened, squared-off epiphyses of tubular bones None None
HP:0100609 obsolete Hypermenorrhea None None
HP:0010870 None None None
HP:0007337 None None None
HP:0009568 Aplasia/Hypoplasia of the middle phalanx of the 2nd finger None None
HP:0007844 None None None
HP:0008537 Cleft at the superior portion of the pinna None None
HP:0005649 None None None
HP:0004111 None None None
HP:0010117 Fragmentation of the epiphyses of the hallux None None
HP:0006123 None None None
HP:0003264 Deficiency of N-acetylglucosamine-1-phosphotransferase None None
HP:0003753 None None None
HP:0007163 obsolete Corticospinal tract disease in lower limbs None None
HP:0006249 None None None
HP:0003732 None None None
HP:0004192 obsolete Bracket epiphyses of the 4th finger None None
HP:0005748 None None None
HP:0008599 None None None
HP:0200142 None None None
HP:0002944 Thoracolumbar scoliosis None None
HP:0004264 Narrow carpal joint spaces None None
HP:0008437 Bifid thoracic vertebrae None None
HP:0006026 Rounded epiphyses None None
HP:0007231 None None None
HP:0001091 None None None
HP:0040309 Increased size of the mandible None None
HP:0005593 Macular hypopigmented whorls, streaks, and patches None None
HP:0001853 Bifid distal phalanx of toe None None
HP:0004781 None None None
HP:0010325 Aplasia/Hypoplasia of the 2nd toe None None
HP:0002609 None None None
HP:0008920 None None None
HP:0040331 Focal hypointensity of cerebral white matter on MRI None None
HP:0008022 None None None
HP:0012455 obsolete Large artery calcification None None
HP:0006312 None None None
RO:0000052 inheres in None None
HP:0007779 Anterior segment of eye aplasia None None
HP:0040146 D-2-hydroxyglutaric acidemia None None
HP:0009092 Progressive alveolar ridge hypertropy None None
HP:0008876 None None None
HP:0030486 Abnormal timing of pattern electroretinogram None None
HP:0010242 Aplasia of the proximal phalanges of the hand None None
HP:0100624 Corpus cavernosum sclerosis None None
HP:0007864 None None None
HP:0007543 Epidermal hyperkeratosis None None
HP:0005753 None None None
HP:0007552 Abnormal subcutaneous fat tissue distribution None None
HP:0001323 None None None
HP:0005371 None None None
HP:0001811 None None None
HP:0100263 Distal symphalangism None None
HP:0012041 Decreased fertility in males None None
HP:5200100 Facial expressions not directed to others None None
HP:0009358 Abnormality of the proximal phalanx of the 3rd finger None None
HP:0005609 Gallbladder dysfunction None None
HP:0004340 Abnormality of vitamin B metabolism None None
HP:0006600 Progressive calcification of costochondral cartilage None None
HP:0009518 Irregular epiphysis of the middle phalanx of the 2nd finger None None
HP:0006978 Dysmyelinating leukodystrophy None None
HP:0007038 None None None
HP:0000094 None None None
HP:0008739 Labial pseudohypertrophy None None
HP:0007203 None None None
HP:0007128 None None None
HP:0030761 obsolete Renal glomerular fibrosis None None
HP:0006602 None None None
HP:0005603 Numerous congenital melanocytic nevi None None
HP:0005674 None None None
HP:0002966 None None None
HP:0004034 Irregular olecranon None None
HP:0100756 None None None
HP:0040184 Oral bleeding None None
HP:0005249 Functional intestinal obstruction None None
HP:0010106 Aplasia of the proximal phalanx of the hallux None None
HP:0008681 None None None
HP:0008842 None None None
HP:0001862 obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) None None
HP:0003476 None None None
HP:0009068 None None None
HP:0003151 None None None
HP:0005351 None None None
HP:0002388 None None None
HP:0009103 Aplasia/Hypoplasia involving the pelvis None None
HP:0100878 Enlarged uterus None None
HP:5200031 obsolete Deferred imitation of others None None
HP:0010347 Aplasia/Hypoplasia of the phalanges of the 2nd toe None None
HP:0006033 None None None
HP:0002448 Progressive encephalopathy None None
HP:0005529 None None None
HP:0007775 None None None
HP:0006572 Subacute progressive viral hepatitis None None
HP:0007492 None None None
HP:0000536 None None None
HP:0008741 None None None
HP:0008809 None None None
HP:0002306 None None None
HP:0010025 Triangular epiphysis of the 1st metacarpal None None
HP:0006388 None None None
HP:0000257 None None None
HP:0008888 None None None
HP:0004730 None None None
HP:0007438 Mottled pigmentation of the trunk and proximal extremities None None
HP:0008300 None None None
HP:0009034 None None None
HP:0030930 1-minute APGAR score of 3 None None
HP:0006103 None None None
HP:0010613 None None None
HP:0002672 Gastrointestinal carcinoma None None
HP:0003617 None None None
HP:0200086 None None None
HP:0007486 Cavernous hemangioma of the face None None
HP:0100170 Bracket epiphysis of the distal phalanx of the 4th toe None None
HP:0030621 Foveal inner retinal layer loss on macular OCT None None
HP:0006678 None None None
HP:0030587 Abnormal Hardy-Rand-Rittler plate test None None
HP:0004953 obsolete Dilatation of abdominal aorta None None
HP:0008851 None None None
HP:0005395 None None None
HP:0010384 Broad phalanges of the 5th toe None None
HP:0007798 obsolete Foveal dystrophy None None
HP:0200099 obsolete Peripheral retinal pigmentation abnormalities None None
HP:0006063 None None None
HP:0008460 Hypoplastic spinal processes None None
HP:0008496 Multiple rows of eyelashes None None
HP:0005712 None None None
HP:0003792 None None None
HP:0100369 Aplasia/Hypoplasia of the distal phalanx of the 3rd toe None None
HP:0006513 None None None
HP:0041090 obsolete Avulsion fractured pelvic region of trunk None None
HP:0006861 None None None
HP:0009448 obsolete Aplasia of the phalanges of the 3rd finger None None
HP:0008097 Partial fusion of tarsals None None
HP:0006053 None None None
HP:0004894 Laryngotracheal stenosis None None
HP:0007290 None None None
HP:0007846 None None None
HP:0010148 Triangular epiphysis of the distal phalanx of the hallux None None
HP:0006405 None None None
HP:0006723 Intestinal carcinoid None None
HP:0001439 None None None
HP:0000314 None None None
HP:0005503 None None None
HP:0040190 White scaling skin None None
HP:0000004 None None None
HP:0003561 Birth length less than 3rd percentile None None
HP:0008620 None None None
HP:0007127 None None None
HP:0000404 None None None
HP:0040294 Duplicated tongue None None
HP:0001624 None None None
HP:0010419 Symphalangism affecting the distal phalanx of the 2nd toe None None
HP:0006306 None None None
HP:0100597 None None None
HP:0100735 Hypertensive crisis None None
HP:0008909 Lethal short-limbed short stature None None
HP:0007224 None None None
HP:0007352 Cerebellar calcifications None None
HP:0008647 Pubertal developmental failure in females None None
HP:0045002 Absent ossification of the trapezium None None
HP:0007491 None None None
HP:0007805 None None None
HP:0002179 Opisthotonus None None
HP:0010091 Symphalangism affecting the proximal phalanx of the hallux None None
HP:0000120 None None None
HP:0001937 Microangiopathic hemolytic anemia None None
HP:0005887 None None None
HP:0007174 None None None
HP:0002541 None None None
HP:0030608 Increased OCT-measured macular thickness None None
HP:0100087 Triangular epiphyses of the 5th toe None None
HP:0005250 High intestinal obstruction None None
HP:0030508 Retinal cavernous hemangioma None None
HP:0034202 Abnormal iduronate sulfatase concentration None None
HP:0004202 obsolete Lytic defects of the proximal phalanx of the ring finger None None
HP:0200160 Agenesis of maxillary incisor None None
HP:0010414 Broad distal phalanx of the 2nd toe None None
HP:0004456 None None None
HP:0002010 Narrow maxilla None None
HP:0009513 Absent epiphysis of the middle phalanx of the 2nd finger None None
HP:0004562 Beaking of vertebral bodies T12-L3 None None
HP:0003501 None None None
HP:0006181 None None None
HP:0008210 None None None
HP:0005169 None None None
HP:0007247 None None None
HP:0009421 Aplasia/Hypoplasia of the distal phalanx of the 3rd finger None None
HP:0004166 None None None
HP:0100179 Triangular epiphysis of the distal phalanx of the 4th toe None None
HP:0004351 None None None
HP:0001129 Large central visual field defect None None
HP:0003807 None None None
HP:0006227 None None None
HP:0001049 Absent dorsal skin creases over affected joints None None
HP:0010673 None None None
HP:0003162 Fasting hypoglycemia None None
HP:0005997 Neck joint contracture None None
HP:0100372 Aplasia/Hypoplasia of the middle phalanx of the 3rd toe None None
HP:0034580 Reduced epidermal plectin protein expression None None
HP:0001729 None None None
HP:0040108 Abnormal anterior semicircular canal morphology None None
HP:0030073 obsolete Pharyngeal neoplasm None None
HP:0009696 Triangular epiphyses of the thumb None None
HP:0001759 None None None
HP:0100141 Ivory epiphysis of the distal phalanx of the 3rd toe None None
HP:0007308 Extrapyramidal dyskinesia None None
HP:0100815 None None None
HP:0004771 Premature graying of body hair None None
HP:0001843 None None None
HP:0100383 Aplasia of the middle phalanx of the 5th toe None None
HP:0004748 None None None
HP:0005838 None None None
HP:0008626 None None None
HP:0003770 None None None
HP:0030612 Abnormal retinal morphology on macular OCT None None
HP:0003523 None None None
HP:0004001 Medially deficient radial epiphyses None None
HP:0030923 5-minute APGAR score of 3 None None
HP:0004067 None None None
HP:0200087 None None None
HP:0001160 None None None
HP:0005767 1-2 toe complete cutaneous syndactyly None None
HP:0009000 None None None
HP:0000443 None None None
HP:0010102 Aplasia of the distal phalanx of the hallux None None
HP:0005223 Duplicated colon None None
HP:0004994 None None None
HP:0005042 Irregular, rachitic-like metaphyses None None
HP:0006673 Reduced systolic function None None
HP:0000065 Labial hypertrophy None None
HP:0007360 Aplasia/Hypoplasia of the cerebellum None None
HP:0100956 None None None
HP:0005086 Knee osteoarthritis None None
HP:0100057 Cone-shaped epiphyses of the 3rd toe None None
HP:0030640 Complete congenital stationary night blindness None None
HP:0031988 obsolete Muscle spasm None None
HP:0011416 Placental infarction None None
HP:0009076 None None None
HP:0100897 None None None
HP:0000877 Insulin-resistant diabetes mellitus at puberty None None
HP:5200130 Insistence on sameness None None
HP:0010586 None None None
HP:0001038 Warfarin-induced skin necrosis None None
HP:0004266 None None None
HP:0005596 None None None
HP:0002141 Gait imbalance None None
HP:0007294 None None None
HP:0005355 None None None
HP:0100879 Enlarged ovaries None None
HP:0005875 Increased dermatoglyphic whorls None None
HP:0001951 Episodic ammonia intoxication None None
HP:0006430 None None None
HP:0005078 None None None
HP:0010279 None None None
HP:0007829 obsolete Diffuse retinal cone degeneration None None
HP:0009123 Mixed hypo- and hyperpigmentation of the skin None None
HP:0002350 Cerebellar cyst None None
HP:0008113 Multiple plantar creases None None
HP:0004035 Abnormal ulnar styloid process morphology None None
HP:0010344 Deviation of the 5th toe None None
HP:0006210 Postaxial oligodactyly None None
HP:0004416 Precocious atherosclerosis None None
HP:0000064 Hypoplastic labia minora None None
HP:0006847 None None None
HP:0006866 Midline central nervous system lipomas None None
HP:0007863 None None None
HP:0008168 None None None
HP:0033470 10-minute APGAR score of 2 None None
HP:0003912 Frayed humeral metaphyses None None
HP:0006729 Retroperitoneal chemodectomas None None
HP:0006504 obsolete Anomaly of the limb diaphyses morphology None None
HP:0007356 None None None
HP:0008506 None None None
HP:0009247 Abnormality of the epiphysis of the middle phalanx of the 4th finger None None
HP:0011694 Supraventricular tachycardia with a manifest accessory pathway None None
HP:0008608 Hypertrophic auricular cartilage None None
HP:0008498 No permanent dentition None None
HP:0003741 Congenital muscular dystrophy None None
HP:0008526 None None None
HP:0000781 None None None
HP:0030178 Abnormality of central nervous system electrophysiology None None
HP:0001243 None None None
HP:0003092 None None None
HP:0003428 None None None
HP:0045012 Decreased urinary catecholamine concentration None None
HP:0001374 Congenital hip dislocation None None
HP:0003511 None None None
HP:0004044 Pointed ulnar metaphysis None None
HP:0005504 None None None
HP:0008995 None None None
HP:0003888 Flattened humeral heads None None
HP:0004631 Decreased cervical spine flexion due to contractures of posterior cervical muscles None None
HP:0006235 None None None
HP:0200051 None None None
HP:0006912 None None None
HP:0009070 None None None
HP:0002523 None None None
HP:0005770 None None None
HP:0004882 None None None
HP:0030340 obsolete Increased circulating gonadotropin level None None
HP:0002821 Neuropathic arthropathy None None
HP:0009133 None None None
HP:0100127 Irregular epiphysis of the proximal phalanx of the 2nd toe None None
HP:0003322 None None None
HP:0001893 None None None
HP:0005505 Refractory anemia None None
HP:0001921 None None None
HP:0006654 None None None
HP:0003047 None None None
HP:0002798 None None None
HP:0001173 None None None
HP:0005795 None None None
HP:0200062 None None None
HP:0007394 Prominent superficial blood vessels None None
HP:5200119 Difficulty understanding humor None None
HP:0006822 None None None
HP:0006893 obsolete Severely dysplastic cerebellum None None
HP:0003631 None None None
HP:0004248 Abnormality of the lunate bone None None
HP:0004310 None None None
HP:0040278 obsolete Prolactinoma A benign tumor (adenoma) of the pituitary gland None
HP:0003182 Shallow acetabular fossae None None
HP:0004496 obsolete Posterior choanal atresia None None
HP:0007164 Slowed slurred speech None None
HP:0002631 obsolete Dilatation of ascending aorta None None
HP:0003064 None None None
HP:0040013 Decreased mitochondrial number None None
HP:0100790 Hernia None None
HP:0000626 None None None
HP:0006030 None None None
HP:0005775 Multiple skeletal anomalies None None
HP:0100690 Mosaic central corneal dystrophy None None
HP:0007195 None None None
HP:0008333 None None None
HP:0003976 Constricted radius None None
HP:0005826 None None None
HP:0007095 obsolete Frontoparietal polymicrogyria None None
HP:0002241 None None None
HP:0006736 None None None
HP:0004816 None None None
HP:0006792 None None None
HP:0001728 None None None
HP:0004280 Irregular ossification of hand bones None None
HP:0007310 None None None
HP:0004033 Curved olecranon None None
HP:0001580 Pigmented micronodular adrenocortical disease None None
HP:0100347 Tibial deviation of the 5th toe None None
HP:0001986 Hypertonic dehydration None None
HP:0006708 None None None
HP:0001163 obsolete Abnormality of the metacarpal bones None None
HP:0004946 None None None
HP:0001990 None None None
HP:0004822 Atypical elliptocytosis None None
HP:0009030 None None None
HP:0006917 None None None
HP:0002142 None None None
HP:0002222 None None None
HP:0001352 None None None
HP:0004212 None None None
HP:0009437 Aplasia/Hypoplasia of the middle phalanx of the 3rd finger None None
HP:0100204 Cone-shaped epiphysis of the distal phalanx of the 5th toe None None
HP:0008572 obsolete External ear malformation A malformation of the auricle of the ear. None
HP:0007080 None None None
HP:0005060 Limited elbow flexion/extension None None
HP:0004424 None None None
HP:0005536 None None None
HP:0004466 Prolonged brainstem auditory evoked potentials None None
HP:0006655 Rib segmentation abnormalities None None
HP:0200100 None None None
HP:0030591 Abnormal kinetic perimetry test None None
HP:0002265 Large fleshy ears None None
HP:0100074 Small epiphyses of the 4th toe None None
HP:0007056 None None None
HP:0001267 None None None
HP:0007017 Progressive forgetfulness None None
HP:0005937 None None None
HP:0007776 Sparse lower eyelashes None None
HP:0011782 Thyroid crisis None None
HP:0031939 Conus terminalis arteriovenous malformation None None
HP:0010050 None None None
HP:0009529 Irregular epiphysis of the proximal phalanx of the 2nd finger None None
HP:0005028 Widened proximal tibial metaphyses None None
HP:0005763 None None None
HP:0033215 Obliterative abnormality of the renal glomerulus None None
HP:0030541 Unaided visual acuity 0.6 LogMAR None None
HP:0008865 None None None
HP:0000173 None None None
HP:0100374 Aplasia/Hypoplasia of the middle phalanx of the 5th toe None None
HP:0040277 Neoplasm of the pituitary gland None None
HP:0003861 Broad diaphyses of the upper limbs None None
HP:0005614 None None None
HP:0008885 None None None
HP:0000335 None None None
HP:0500180 Abnormal circulating amino sulfonic acid concentration None None
HP:0008206 None None None
HP:0004217 None None None
HP:0003078 None None None
HP:0008313 None None None
HP:0005829 Maldevelopment of radioulnar joint None None
HP:0006015 None None None
HP:0007004 None None None
HP:0000345 None None None
HP:0007852 obsolete Pericentral pigmentary retinopathy None None
HP:0006613 None None None
HP:0100142 Pseudoepiphysis of the distal phalanx of the 3rd toe None None
HP:0200102 Sparse or absent eyelashes None None
HP:0004668 None None None
HP:0005729 None None None
HP:0008933 None None None
HP:0008624 None None None
HP:0002192 None None None
HP:0000990 None None None
HP:0007753 None None None
HP:0003009 Enhanced neurotoxicity of vincristine None None
HP:0100165 Small epiphysis of the proximal phalanx of the 3rd toe None None
HP:0000681 None None None
HP:0000291 Abnormality of facial adipose tissue None None
HP:0004265 None None None
HP:0004020 Irregular ossification of the radial metaphysis None None
HP:0002806 None None None
HP:0007336 None None None
HP:0031065 Abnormal ovarian morphology None None
HP:0003839 Abnormal upper limb epiphysis morphology None None
HP:0004249 Accessory lunate None None
HP:0007102 None None None
HP:0004402 None None None
HP:0001860 None None None
HP:0010198 Osteolytic defects of the middle phalanges of the toes None None
HP:0006147 Progressive fusion 2nd-5th pip joints None None
HP:0025658 obsolete Abnormal umbilical artery Doppler pattern in pregnancy None None
HP:0004888 None None None
HP:0005087 None None None
HP:0200002 None None None
HP:0006065 None None None
HP:0002325 None None None
HP:0004011 None None None
HP:0006057 None None None
HP:0003866 Coarse humeral trabeculae None None
HP:0008013 None None None
HP:0003851 Lytic defects in metaphyses of the upper limbs None None
HP:0100488 Synostosis of the proximal phalanx of the hallux with the 1st metatarsal None None
HP:0009552 Aplasia/Hypoplasia of the phalanges of the 2nd finger None None
HP:5200121 Treats people like objects None None
HP:0004973 None None None
HP:0007804 None None None
HP:0003746 None None None
HP:0009359 None None None
HP:0004196 obsolete Short phalanges of the ring finger None None
HP:0006703 Aplasia/Hypoplasia of the lungs None None
HP:0005017 Polyarticular chondrocalcinosis None None
HP:0005673 None None None
HP:0000310 None None None
HP:0010589 None None None
HP:0009036 None None None
HP:0005251 None None None
HP:0010377 Symphalangism affecting the phalanges of the 4th toe None None
HP:0008863 None None None
HP:0008518 Aplasia/Hypoplasia involving the vertebral column None None
HP:0005285 Absent nasal bridge None None
HP:0001944 Dehydration None None
HP:0009524 Absent epiphysis of the proximal phalanx of the 2nd finger None None
HP:0007871 None None None
HP:0005196 None None None
HP:0004449 None None None
HP:0011668 Bilateral superior vena cava with no bridging vein None None
HP:0003392 First dorsal interossei muscle weakness None None
HP:0009235 None None None
HP:0001040 Multiple pterygia None None
HP:0000043 None None None
HP:0040312 Temporomandibular arthritis None None
HP:0005278 Hypoplastic nasal tip None None
HP:0004886 Congenital laryngeal stridor None None
HP:0004650 None None None
HP:0040093 Asymmetry of the position of the ears None None
HP:0008728 None None None
HP:0012031 Lipomatous tumor None None
HP:0004830 None None None
HP:5200128 Deficit applying language skills across context None None
HP:0006799 Basal ganglia cysts None None
HP:0009842 None None None
HP:0009086 None None None
HP:0030572 Pinhole visual acuity 0.4 LogMAR None None
HP:0002437 None None None
HP:0100224 Absent epiphysis of the proximal phalanx of the 5th toe None None
HP:0003820 None None None
HP:0002124 None None None
HP:0006612 None None None
HP:0009369 None None None
HP:0008581 None None None
HP:0030554 Best corrected visual acuity 0.1 LogMAR None None
HP:0009156 None None None
HP:0007788 None None None
HP:0009300 Aplasia/Hypoplasia of the proximal phalanx of the 4th finger None None
HP:0007691 obsolete Short curly eyelashes None None
HP:0100289 Abnormality of pattern reversal visual evoked potentials None None
HP:0003425 None None None
HP:0100728 Germ cell neoplasia None None
HP:0200061 None None None
HP:0007234 None None None
HP:0010283 None None None
HP:0008334 None None None
HP:0004049 Decreased carpal angles of wrist None None
HP:0008704 None None None
HP:0008667 None None None
HP:0003553 obsolete Cellulitis due to immunodeficiency None None
HP:0009019 Progressive loss of facial adipose tissue None None
HP:0007723 None None None
HP:0005644 None None None
HP:0006783 Posterior pharyngeal cleft None None
HP:0010999 Aplasia of the optic tract None None
HP:0008779 None None None
HP:0100206 Fragmentation of the epiphysis of the distal phalanx of the 5th toe None None
HP:0000950 None None None
HP:0004007 Sclerotic radial epiphyses None None
HP:0010173 Aplasia/Hypoplasia of the phalanges of the toes None None
HP:0005698 None None None
HP:0008532 None None None
HP:0030566 Best corrected visual acuity 1.3 LogMAR None None
HP:0007032 None None None
HP:0010248 Cone-shaped epiphyses of the distal phalanges of the hand None None
HP:0005654 None None None
HP:0002845 obsolete Increased proportion of peripheral CD3+ T cells None None
HP:0004002 Flattened radial epiphyses None None
HP:0006083 None None None
HP:0008500 None None None
HP:0006794 Loss of ability to walk in first decade None None
HP:0006275 None None None
HP:0100464 Patchy sclerosis of the proximal phalanx of the 3rd toe None None
HP:0005029 None None None
HP:0008137 None None None
HP:0006022 None None None
HP:0006539 Bronchial cartilage hypoplasia None None
HP:0009834 Abnormal proximal phalanx morphology of the hand None None
HP:0009864 None None None
HP:0040169 Loose anagen hair None None
HP:0005734 None None None
HP:0007014 None None None
HP:0007072 None None None
HP:0007184 None None None
HP:0003822 None None None
HP:0011785 Thyrotoxicosis with toxic multinodular goiter None None
HP:0005455 None None None
HP:0010332 Deviation of the 3rd toe None None
HP:0002274 None None None
HP:0005703 None None None
HP:0030626 Foveal intraretinal hyporeflective spaces on macular OCT None None
HP:0006972 None None None
HP:0005828 Transient pulmonary infiltrates None None
HP:0004760 obsolete Congenital septal defect None None
HP:0005336 Forehead hyperpigmentation None None
HP:0003291 None None None
HP:0006423 Peg-like central prominence of distal tibial metaphyses None None
HP:0040113 Old-aged sensorineural hearing impairment None None
HP:0011366 None None None
HP:0001424 None None None
HP:0005861 None None None
HP:0000697 None None None
HP:0007389 None None None
HP:0001767 None None None
HP:0004624 None None None
HP:0007696 None None None
HP:0001200 None None None
HP:0006605 None None None
HP:0000981 None None None
HP:0100794 None None None
HP:0002055 Curved linear dimple below the lower lip None None
HP:0006508 Abnormality of tibial epiphyses None None
HP:0009140 Synostosis involving bones of the feet None None
HP:0001422 None None None
HP:0004199 None None None
HP:0006427 None None None
HP:0001568 None None None
HP:0001842 Foot acroosteolysis None None
HP:0005578 None None None
HP:0011677 Tetralogy of Fallot with atrioventricular canal defect None None
HP:0006428 None None None
HP:0010973 None None None
HP:0100230 Ivory epiphysis of the proximal phalanx of the 5th toe None None
HP:0009565 Aplasia of the distal phalanx of the 2nd finger None None
HP:0007567 None None None
HP:0025356 obsolete Psychomotor retardation None None
HP:0003544 None None None
HP:0001569 None None None
HP:0003517 Birth length greater than 97th percentile None None
HP:0100128 Ivory epiphysis of the proximal phalanx of the 2nd toe None None
HP:0007526 Hypopigmented skin patches on arms None None
HP:0003884 Triangular humerus None None
HP:0006379 Proximal tibial hypoplasia None None
HP:0003098 None None None
HP:0040092 Asymmetry of the shape of the ears None None
HP:0007143 None None None
HP:0031007 Orofacial action-specific dystonia induced by speech None None
HP:0100666 None None None
HP:0003783 obsolete Externally rotated/abducted legs None None
HP:0004489 None None None
HP:0004600 None None None
HP:0008129 None None None
HP:0100953 Enlarged interhemispheric fissure None None
HP:0001441 Abnormality thigh musculature morphology None None
HP:0006842 None None None
HP:0009651 None None None
HP:0004967 None None None
HP:0005607 Abnormal tracheobronchial morphology None None
HP:0030543 Unaided visual acuity 0.8 LogMAR None None
HP:0002537 None None None
HP:0030625 Hyporeflective spaces on macular OCT None None
HP:0000435 None None None
HP:0008435 Absent in utero ossification of vertebral bodies None None
HP:0007949 obsolete Progressive macular scarring None None
HP:0002458 None None None
HP:0007405 None None None
HP:0005327 Loss of facial expression None None
HP:0006452 None None None
HP:0030557 Best corrected visual acuity 0.4 LogMAR None None
HP:0003309 Ovoid thoracolumbar vertebrae None None
HP:0008927 None None None
HP:0002395 Lower limb hyperreflexia None None
HP:0006506 None None None
HP:0008923 None None None
HP:0000959 None None None
HP:0002229 obsolete Alopecia areata None None
HP:0001074 Atypical nevi in non-sun exposed areas None None
HP:0008556 None None None
HP:0003332 Absent primary metaphyseal spongiosa None None
HP:0008576 None None None
HP:0006259 None None None
HP:0009371 Type A1 brachydactyly None None
HP:0007205 None None None
HP:0011784 Thyrotoxicosis with diffuse goiter None None
HP:0009248 Abnormality of the epiphysis of the proximal phalanx of the 4th finger None None
HP:0003754 None None None
HP:0000560 None None None
HP:0003907 Abnormal humeral metaphysis morphology None None
HP:0100100 Absent epiphysis of the distal phalanx of the 2nd toe None None
HP:0009093 None None None
HP:0100900 Sclerosis of the distal phalanx of the 2nd finger None None
HP:0008795 None None None
HP:0008541 Superiorly displaced ears None None
HP:0001891 Iron deficiency anemia None None
HP:0005276 None None None
HP:0004235 Comma-shaped carpal bones None None
HP:0002357 obsolete Dysphasia None None
HP:0008098 None None None
HP:0008385 None None None
HP:0009857 Symphalangism affecting the proximal phalanges of the hand None None
HP:0005986 Limitation of neck motion None None
HP:0200081 None None None
HP:0008342 None None None
HP:0005316 Peripheral pulmonary vessel aplasia None None
HP:0007594 None None None
HP:0003681 None None None
HP:0200075 None None None
HP:0007339 None None None
HP:0030574 Pinhole visual acuity 0.6 LogMAR None None
HP:0010072 Patchy sclerosis of the 1st metatarsal None None
HP:0007235 None None None
HP:0034578 Reduced epidermal collagen XVII protein expression None None
HP:0000849 Adrenocortical abnormality None None
HP:0007488 Diffuse skin atrophy None None
HP:0200122 Atypical or prolonged hepatitis None None
HP:0005709 2-3 toe cutaneous syndactyly None None
HP:0007835 S-shaped palpebral fissures None None
HP:0007065 Disorganization of the anterior cerebellar vermis None None
HP:0007520 None None None
HP:0006260 None None None
HP:0000770 None None None
HP:0008634 None None None
HP:0007160 None None None
HP:0005695 None None None
HP:0003338 Focal necrosis of right ventricular muscle cells None None
HP:0007168 None None None
HP:0004085 None None None
HP:0004038 obsolete Bony spicule of ulnar epiphyseal plate None None
HP:0004917 None None None
HP:0002303 None None None
HP:0006875 None None None
HP:0007161 None None None
HP:0100161 Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe None None
HP:0008126 None None None
HP:0011693 Supraventricular tachycardia with a concealed accessory pathway on the septum None None
HP:0100744 Abnormality of the humeroradial joint None None
HP:0008827 None None None
HP:0034787 Accumulation of lipid droplets in small-bowel enterocytes None None
HP:0008701 None None None
HP:0100823 Genital hernia None None
HP:0007432 Intermittent generalized erythematous papular rash None None
HP:0007590 Aplasia cutis congenita over posterior parietal area None None
HP:0006706 Cystic liver disease None None
HP:0009066 None None None
HP:0001588 None None None
HP:0008174 None None None
HP:0005159 None None None
HP:0030583 Pinhole visual acuity 3.0 LogMAR None None
HP:0001486 None None None
HP:0010359 Aplasia/Hypoplasia of the phalanges of the 3rd toe None None
HP:0003545 None None None
HP:0008276 None None None
HP:0030650 Focal None None
HP:0008280 None None None
HP:0005329 Fixed facial expression None None
HP:0007530 Punctate palmoplantar hyperkeratosis None None
HP:0007663 Reduced visual acuity None None
HP:0000469 None None None
HP:0002447 None None None
HP:0004551 None None None
HP:0003997 Hypoplastic radial head None None
HP:0000604 None None None
HP:0007921 None None None
HP:0001721 None None None
HP:0010985 obsolete Gonosomal inheritance None None
HP:0006841 None None None
HP:0010378 Triangular shaped phalanges of the 4th toe None None
HP:0005298 obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia None None
HP:0007178 Motor polyneuropathy None None
HP:0008275 Abnormal light-adapted electroretinogram None None
HP:0005966 None None None
HP:0003824 None None None
HP:0007951 None None None
HP:0100066 Absent epiphyses of the 4th toe None None
HP:0005364 obsolete Severe viral infections None None
HP:0100196 Irregular epiphysis of the proximal phalanx of the 4th toe None None
HP:0008715 Testicular dysgenesis None None
HP:0000910 Wide-cupped costochondral junctions None None
HP:0007153 Progressive extrapyramidal movement disorder None None
HP:0100119 Small epiphysis of the middle phalanx of the 2nd toe None None
HP:0100680 None None None
HP:0006036 None None None
HP:0001393 None None None
HP:0100205 Enlarged epiphysis of the distal phalanx of the 5th toe None None
HP:0001246 None None None
HP:0004008 Sloping radial epiphyses None None
HP:0007283 None None None
HP:0004677 None None None
HP:0006922 None None None
HP:0008298 None None None
HP:0001900 Increased hemoglobin None None
HP:0004094 None None None
HP:0003001 Glomus jugular tumor None None
HP:0008695 Transient nephrotic syndrome None None
HP:0033795 Growth without growth hormone None None
HP:0007384 Aberrant melanosome maturation None None
HP:0004119 None None None
HP:0100254 Stenosis of the medullary cavity of the long bones None None
HP:0004143 obsolete Radially deviated terminal index finger phalanx None None
HP:0012201 obsolete Reduced prothrombin activity None None
HP:0001536 None None None
HP:0007053 None None None
HP:0032875 obsolete Focal impaired awareness cognitive seizure with impaired responsiveness None None
HP:0005044 None None None
HP:0009515 Cone-shaped epiphysis of the middle phalanx of the 2nd finger None None
HP:0007972 None None None
HP:0003948 Irregular epiphyses of the elbow None None
HP:0006686 None None None
HP:0100059 Fragmentation of the epiphyses of the 3rd toe None None
HP:0006763 Anal canal squamous carcinoma None None
HP:0005173 obsolete Calcific aortic valve stenosis None None
HP:0004156 None None None
HP:0040332 Multifocal hypointensity of cerebral white matter on MRI None None
HP:0005142 None None None
HP:0002564 obsolete Malformation of the heart and great vessels None None
HP:0040198 Non-medullary thyroid carcinoma None None
HP:0003157 None None None
HP:0002873 None None None
HP:0005836 None None None
HP:0030474 Undetectable dark-adapted electroretinogram None None
HP:0100175 Ivory epiphysis of the distal phalanx of the 4th toe None None
HP:0007909 None None None
HP:0009059 Congenital generalized lipodystrophy None None
HP:0007807 Optic nerve compression None None
HP:0005657 None None None
HP:0004589 Dysplasia of second lumbar vertebra None None
HP:0008268 None None None
HP:0003171 None None None
HP:0005402 obsolete Primary T-lymphocyte immune abnormalities None None
HP:0003507 None None None
HP:0006402 Distal shortening of limbs None None
HP:0003294 None None None
HP:0010436 Aplasia of the proximal phalanx of the 2nd toe None None
HP:0011697 Supraventricular tachycardia with a manifest accessory pathway on the right free wall None None
HP:0100430 Broad proximal phalanx of the 5th toe None None
HP:0002402 None None None
HP:0004620 None None None
HP:0000948 None None None
HP:0003899 Round humeral epiphyses None None
HP:0002382 None None None
HP:0008170 None None None
HP:0100081 Fragmentation of the epiphyses of the 5th toe None None
HP:0010074 Triangular shaped 1st metatarsal None None
HP:0007241 None None None
HP:0006641 Prominent floating ribs None None
HP:0004710 None None None
HP:5200029 Social disinhibition None None
HP:0008623 None None None
HP:0004514 None None None
HP:0009801 None None None
HP:0001731 None None None
HP:0006132 None None None
HP:0006836 None None None
HP:0005823 None None None
HP:0005461 Craniofacial disproportion None None
HP:0006724 None None None
HP:0000320 Bird-like facies None None
HP:0010961 obsolete Intralobar sequestration A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung. None
HP:0004908 None None None
HP:0002309 None None None
HP:0040220 Abnormal size of the dental root None None
HP:0030551 Visual acuity light perception with projection None None
HP:0008908 None None None
HP:0002478 Progressive spastic quadriplegia None None
HP:0100676 Vaginal lymphocele None None
HP:0006082 None None None
HP:0001066 None None None
HP:0001550 None None None
HP:0007639 None None None
HP:0007536 Aplasia cutis congenita of midline scalp vertex None None
HP:0003603 None None None
HP:0008731 None None None
HP:0002394 None None None
HP:0003197 None None None
HP:0007026 None None None
HP:0005981 None None None
HP:0003692 None None None
HP:0001024 Skin dimple over apex of long bone angulation None None
HP:0005448 None None None
HP:0012138 Granulocytic hyperplasia None None
HP:0005296 obsolete Occlusive vascular disease None None
HP:0003135 None None None
HP:0040161 Localized osteoporosis None None
HP:0003229 None None None
HP:0007724 None None None
HP:0005903 None None None
HP:0011543 Superior-inferior ventricles without criss-cross atrioventricular valves None None
HP:0004703 None None None
HP:5200133 Intense attachment to unusual objects None None
HP:0007039 Symmetric lesions of the basal ganglia None None
HP:0002503 Spinocerebellar tract degeneration None None
HP:0004720 None None None
HP:0007546 Linear hyperpigmentation None None
HP:0000984 None None None
HP:0004776 None None None
HP:0006219 None None None
HP:0008324 None None None
HP:0008425 Cuboid-shaped thoracolumbar vertebral bodies None None
HP:0001206 None None None
HP:0009866 None None None
HP:0010262 Irregular epiphyses of the middle phalanges of the hand None None
HP:0040141 Tardive dyskinesia None None
HP:0007214 None None None
HP:0005282 None None None
HP:0100934 Sclerosis of the proximal phalanx of the 5th toe None None
HP:0004552 Scarring alopecia of scalp None None
HP:0010200 Symphalangism affecting the middle phalanges of the toes None None
HP:0007926 None None None
HP:0040047 Abnormal right hemidiaphragm morphology None None
HP:0003321 Biconcave flattened vertebrae None None
HP:0008562 None None None
HP:0008558 None None None
HP:0008745 None None None
HP:0003615 None None None
HP:0025031 Abnormality of the digestive system None None
HP:0003721 None None None
HP:0008172 None None None
HP:0004335 None None None
HP:0001507 Growth abnormality None None
HP:0002946 Supernumerary vertebrae None None
HP:0011155 obsolete Focal autonomic seizures with altered responsiveness None None
HP:0007091 None None None
HP:0002759 None None None
HP:0002233 None None None
HP:0006533 Bronchodysplasia None None
HP:0002706 None None None
HP:0003232 Mitochondrial malic enzyme reduced None None
HP:0003808 Abnormal muscle tone None None
HP:0100945 Sclerosis of the 1st metatarsal None None
HP:0007966 None None None
HP:0004896 None None None
HP:0001603 None None None
HP:0004071 None None None
HP:0010084 Duplication of the distal phalanx of the hallux None None
HP:0008032 None None None
HP:0007003 None None None
HP:0004498 None None None
HP:0004615 None None None
HP:0007675 Progressive night blindness None None
HP:0006494 Aplasia/Hypoplasia involving bones of the feet None None
HP:0007878 None None None
HP:0003079 Defective DNA repair after ultraviolet radiation damage None None
HP:0004604 None None None
HP:0004665 None None None
HP:0007490 Linear arrays of macular hyperkeratoses in flexural areas None None
HP:0000229 None None None
HP:0000398 None None None
HP:0006201 Hypermobility of distal interphalangeal joints None None
HP:0006561 Lipid accumulation in hepatocytes None None
HP:0006902 None None None
HP:0100121 Triangular epiphysis of the middle phalanx of the 2nd toe None None
HP:0040171 Decreased serum testosterone concentration None None
HP:0000373 None None None
HP:0005857 Cervical spina bifida None None
HP:0005754 None None None
HP:0030921 5-minute APGAR score of 1 None None
HP:0001434 None None None
HP:0006652 None None None
HP:0000144 Decreased fertility None None
HP:0006416 None None None
HP:0000192 None None None
HP:0000146 None None None
HP:0000374 None None None
HP:0004675 None None None
HP:0004290 Sclerosis of hand bones with transverse striations None None
HP:0004656 None None None
HP:0009142 Duplication of bones involving the upper extremities None None
HP:0003346 None None None
HP:0001445 Abnormality of the hip-girdle musculature None None
HP:0000747 None None None
HP:0006188 None None None
HP:0003420 None None None
BFO:0000066 occurs in None None
HP:5200118 Difficulty recognizing another's emotions None None
HP:0200014 None None None
HP:0005595 Generalized hyperkeratosis None None
HP:0011148 obsolete Absence seizures with special features None None
HP:0002642 Arteriovenous fistulas of celiac and mesenteric vessels None None
HP:0007000 Morning myoclonic jerks None None
HP:0007146 Bilateral basal ganglia lesions None None
HP:0007125 None None None
HP:0004029 Lytic defects of radial diaphysis None None
HP:0007522 Increased number of skin folds None None
HP:0005853 Congenital foot contraction deformities None None
HP:0005059 Arthralgia/arthritis None None
HP:0006035 Cone-shaped epiphyses of phalanges 2 to 5 None None
HP:0100938 Sclerosis of the middle phalanx of the 5th toe None None
HP:0001549 Abnormal ileum morphology None None
HP:0001517 None None None
HP:0008844 None None None
HP:0010254 Small epiphyses of the distal phalanges of the hand None None
HP:0008224 None None None
HP:0010738 None None None
HP:0004806 None None None
HP:0008472 Prominent protruding coccyx None None
HP:0045084 Limb myoclonus None None
HP:0009370 Type A brachydactyly None None
HP:0009029 None None None
HP:0006868 None None None
HP:0200148 Abnormal liver function tests during pregnancy None None
HP:0007857 None None None
HP:0008266 None None None
HP:0007085 None None None
HP:0004520 None None None
HP:0040110 Abnormal saccule morphology None None
HP:0030585 Red desaturation None None
HP:0008536 None None None
HP:0001819 None None None
HP:0000416 None None None
HP:0006027 None None None
HP:0004982 None None None
HP:0034573 Abnormal epidermal protein expression None None
HP:0100846 None None None
HP:0002288 None None None
HP:0003466 Paradoxical increased cortisol secretion on dexamethasone suppression test None None
HP:0032117 obsolete Macrosaccadic oscillation None None
HP:0002964 None None None
HP:0004772 None None None
HP:0100791 None None None
HP:0004135 None None None
HP:0006824 Cranial nerve paralysis None None
HP:0007199 Progressive spastic paraparesis None None
HP:0003827 None None None
HP:0000507 None None None
HP:0003515 None None None
HP:0030646 Peripheral None None
HP:0007710 Peripheral vitreous opacities None None
HP:0008856 None None None
HP:0006037 None None None
HP:0001687 None None None
HP:0040037 obsolete Thin fingernail (obsolete) None None
HP:0004475 None None None
HP:0002262 None None None
HP:0006656 None None None
HP:0003181 None None None
HP:0000266 None None None
HP:0005488 None None None
HP:0006287 None None None
HP:0010268 Absent epiphyses of the proximal phalanges of the hand None None
HP:0000721 Lack of spontaneous play None None
HP:0000057 obsolete Clitoromegaly None None
HP:0011156 obsolete Focal autonomic seizures without altered responsiveness None None
HP:0004151 None None None
HP:0031804 Premacular hemorrhage None None
HP:0006620 None None None
HP:0010768 None None None
HP:0008413 None None None
HP:0005126 None None None
HP:0003464 obsolete Abnormal cholesterol homeostasis None None
HP:0004441 None None None
HP:0003585 None None None
HP:0010676 Mechanical ileus None None
HP:0000186 None None None
HP:0008509 Aged leonine appearance None None
HP:0004685 None None None
HP:0030638 Congenital stationary night blindness with normal fundus None None
HP:0007574 Generalized bronze hyperpigmentation None None
HP:0006862 None None None
HP:0006884 None None None
HP:0004023 Sloping radial metaphysis None None
HP:0030578 Pinhole visual acuity 1.0 LogMAR None None
HP:0007821 None None None
HP:0003799 Marked delay in bone age None None
HP:0100148 Cone-shaped epiphysis of the middle phalanx of the 3rd toe None None
HP:0005874 None None None
HP:0003644 None None None
HP:0005410 None None None
HP:0005137 None None None
HP:0006242 None None None
HP:0003847 None None None
HP:0100108 Small epiphysis of the distal phalanx of the 2nd toe None None
HP:0004957 None None None
HP:0003423 Thoracolumbar kyphoscoliosis None None
HP:0006255 None None None
HP:0001599 None None None
HP:0002939 None None None
HP:0000807 Glandular hypospadias None None
HP:0003786 None None None
HP:0006475 None None None
HP:0006408 Distal tapering femur None None
HP:0004892 None None None
HP:0005865 None None None
HP:0040085 Abnormal circulating aldosterone None None
HP:0001333 None None None
HP:0004544 obsolete Pointed frontal hairline None None
HP:0001462 None None None
HP:0003973 Wide radioulnar joints None None
HP:0007218 None None None
HP:0000838 None None None
HP:0008539 None None None
HP:0007965 Undetectable visual evoked potentials None None
HP:0005714 None None None
HP:0002214 None None None
HP:0007324 None None None
HP:0004056 None None None
HP:0040098 Basalioma of the outer ear None None
HP:0002660 None None None
HP:0040253 Increased size of the clitoris None None
HP:0002467 None None None
HP:0006072 None None None
HP:0008285 Transient hypophosphatemia None None
HP:0007843 Attenuation of retinal blood vessels None None
HP:0009549 Curved phalanges of the 2nd finger None None
HP:0001086 None None None
HP:0006294 None None None
HP:0008240 Secondary growth hormone deficiency None None
HP:0010792 None None None
HP:0010201 Triangular shaped middle phalanges of the toes None None
HP:0005762 None None None
HP:0008548 None None None
HP:0040024 Clinodactyly of the 3rd finger None None
HP:0006664 None None None
HP:0001585 None None None
HP:0004219 Abnormality of the middle phalanx of the 5th finger None None
HP:0040174 Abnormality of extrinsic muscle of tongue None None
HP:0002129 None None None
HP:0009517 Fragmentation of the epiphysis of the middle phalanx of the 2nd finger None None
HP:0003800 Muscle abnormality related to mitochondrial dysfunction None None
HP:0002238 None None None
HP:0005816 None None None
HP:0100225 Bracket epiphysis of the proximal phalanx of the 5th toe None None
HP:0003082 None None None
HP:0004263 Large capitate bone None None
HP:0007610 Blotching pigmentation of the skin None None
HP:0011776 Thyroid microfollicular adenoma None None
HP:0005663 None None None
HP:0008374 None None None
HP:0000754 None None None
HP:0006411 None None None
HP:0001504 Metacarpal osteolysis None None
HP:0000210 None None None
HP:0006514 Intraalveolar nodular calcifications None None
HP:0002438 Cerebellar malformation None None
HP:0008580 None None None
HP:0000559 Corneal scarring None None
HP:0009037 Segmental spinal muscular atrophy None None
HP:0001053 Hypopigmented skin patches None None
HP:0010986 None None None
HP:0010960 obsolete Bronchopulmonary sequestration The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree. None
HP:0004153 obsolete Overgrowth of middle finger None None
HP:0040267 Distal upper limb muscle hypertrophy None None
HP:0000198 Absence of Stensen duct None None
HP:0003222 None None None
HP:0007959 None None None
HP:0008193 Primary gonadal insufficiency None None
HP:0001214 None None None
HP:0003136 None None None
HP:0010466 None None None
HP:0008426 None None None
HP:0005228 None None None
HP:0100479 None None None
HP:0002316 None None None
HP:0004773 None None None
HP:0007964 Degenerative vitreoretinopathy None None
HP:0006497 None None None
HP:0003880 Sclerotic foci of the humerus None None
HP:0010467 None None None
HP:0030642 Fundus albipunctatus None None
HP:0003252 Anteriorly displaced genitalia None None
HP:0000566 None None None
HP:0001619 None None None
HP:0007742 None None None
HP:0030562 Best corrected visual acuity 0.9 LogMAR None None
HP:0002150 Hypercalciuria None None
HP:0008463 Central vertebral hypoplasia None None
HP:0006112 Expanded phalanges with widened medullary cavities None None
HP:0008618 None None None
HP:0008340 None None None
HP:0006658 None None None
HP:0040170 Abnormality of hair growth None None
HP:0009839 Osteolytic defects of the distal phalanges of the hand None None
HP:0005293 Venous insufficiency None None
HP:0005192 None None None
HP:0007093 None None None
HP:0006996 None None None
HP:0001146 obsolete Pigmentary retinal degeneration None None
HP:0040080 Anteverted ears None None
HP:0001851 None None None
HP:0030553 Visual acuity no light perception None None
HP:0007249 Decreased number of small peripheral myelinated nerve fibers None None
HP:0003622 None None None
HP:0003832 Abnormality of the tibial plateaux None None
HP:0000459 None None None
HP:0040112 Abnormal number of tubercles None None
HP:0010389 Symphalangism affecting the phalanges of the 5th toe None None
HP:0008566 None None None
HP:0100093 Abnormality of the epiphysis of the proximal phalanx of the 3rd toe None None
HP:0032483 obsolete Abnormal fecal test result None None
HP:0005431 None None None
HP:0002426 None None None
HP:0031911 Abnormal fifth cranial nerve physiology None None
HP:0008912 None None None
HP:0001139 Choroideremia None None
HP:0009610 None None None
HP:0001364 None None None
HP:0009750 None None None
HP:0009843 Aplasia/Hypoplasia of the middle phalanges of the hand None None
HP:0007924 Slow decrease in visual acuity None None
HP:0006547 None None None
HP:0001354 None None None
HP:5200103 Reduced social responsiveness None None
HP:0006696 Polymorphic and polytopic ventricular extrasystoles None None
HP:0011725 Chaotic multifocal atrial tachycardia None None
HP:0003516 None None None
HP:0001341 Olfactory lobe agenesis None None
HP:0008296 None None None
HP:0040124 obsolete Patent tuba eustachii None None
HP:0005889 None None None
HP:0005552 None None None
HP:0004634 Cuboid-shaped vertebral bodies None None
HP:0006225 None None None
HP:0005790 Short mandibular condyles None None
HP:0006081 None None None
HP:0005254 Unilateral chest hypoplasia None None
HP:0004243 Abnormality of the scaphoid None None
HP:0040048 obsolete Aplasia of the left hemidiaphragm None None
HP:0100432 Broad distal phalanx of the 4th toe None None
HP:0011216 None None None
HP:0005810 None None None
HP:0030478 Abnormal amplitude of dark-adapted bright flash electroretinogram None None
HP:0003490 obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA None None
HP:0004215 None None None
HP:0003295 obsolete Impaired FSH and LH secretion None None
HP:0012137 Abnormal number of granulocyte precursors None None
HP:0004238 Lytic defects of carpal bones None None
HP:0006010 None None None
HP:0002606 None None None
HP:0002993 None None None
HP:0006809 None None None
HP:0000811 Abnormal external genitalia None None
HP:0100911 Sclerosis of the proximal phalanx of the 5th finger None None
HP:0002311 Incoordination None None
HP:0004108 None None None
HP:0007736 obsolete Pericentral retinal dystrophy None None
HP:0003909 Cortical subperiosteal resorption of humeral metaphyses None None
HP:0002772 None None None
HP:0009851 Aplasia/Hypoplasia of the proximal phalanges of the hand None None
HP:0005008 Large joint dislocations None None
HP:0007307 Rapid neurologic deterioration None None
HP:0033474 10-minute APGAR score of 6 None None
HP:5200116 Difficulty understanding nonliteral meaning of conversation None None
HP:0003503 None None None
HP:0004178 None None None
HP:0004167 None None None
HP:0004899 None None None
HP:0010124 Abnormality of the epiphysis of the distal phalanx of the hallux None None
HP:0030446 Atypical pulmonary carcinoid tumor None None
HP:0005586 Hyperpigmentation in sun-exposed areas None None
HP:0001676 obsolete Palpitations (with pheochromocytoma) None None
HP:0007564 None None None
HP:0003514 Deficiency or absence of cytochrome b(-245) None None
HP:0004801 None None None
HP:0006871 None None None
HP:0008178 Abnormal cartilage matrix None None
HP:0003661 None None None
HP:0009958 Polydactyly affecting the 3rd finger None None
HP:0006717 Peripheral neuroepithelioma None None
HP:0003556 None None None
HP:0001784 None None None
HP:0004058 Hand monodactyly None None
HP:0100824 None None None
HP:0001826 None None None
HP:0003853 Sclerosis with transverse striations in metaphyses of the upper limbs None None
HP:0008136 None None None
HP:0025541 obsolete Decreased activity of complement receptor None None
HP:0004739 None None None
HP:0007585 Skin fragility with non-scarring blistering None None
HP:0003846 Wide epiphyseal plates of the upper limbs None None
HP:0001736 None None None
HP:0008594 None None None
HP:0008104 None None None
HP:0034994 Elevated circulating saccharopine concentration None None
HP:0007884 None None None
HP:0002030 None None None
HP:0003886 Wide humerus None None
HP:0005933 None None None
HP:0007555 None None None
HP:0001202 None None None
HP:0004572 None None None
HP:0002527 Falls None None
HP:0100152 Ivory epiphysis of the middle phalanx of the 3rd toe None None
HP:0003293 None None None
HP:0010163 Bracket epiphyses of the toes None None
HP:0006237 Prominent interphalangeal joints None None
HP:0008234 None None None
HP:0008780 Congenital bilateral hip dislocation None None
HP:0010266 Stippling of the epiphyses of the middle phalanges of the hand None None
HP:0000433 Abnormal nasal mucosa morphology None None
HP:0001506 None None None
HP:0002628 None None None
HP:0200132 None None None
HP:0009753 None None None
HP:0004003 Medially flattened radial epiphyses None None
HP:0006941 None None None
HP:0008082 Medial deviation of the foot None None
HP:0010101 Partial duplication of the phalanges of the hallux None None
HP:0004824 None None None
HP:0000866 Euthyroid multinodular goiter None None
HP:0002347 None None None
HP:0100552 Neoplasm of the tracheobronchial system None None
HP:0007243 None None None
HP:0002125 None None None
HP:0007797 Retinal vascular malformation None None
HP:0030616 Foveal retinal pigment epithelial loss on macular OCT None None
HP:0008289 None None None
HP:0005783 None None None
HP:0005449 Bridged sella turcica None None
HP:0006924 None None None
HP:0008406 None None None
HP:0032628 Renal intratubular crystals None None
HP:0008574 None None None
HP:0008212 None None None
HP:0007062 None None None
HP:0003813 None None None
HP:0006845 None None None
HP:0007969 None None None
HP:0008479 Hypoplastic vertebral bodies None None
HP:0006023 None None None
HP:0001652 None None None
HP:0006258 None None None
HP:0003685 None None None
HP:0004550 None None None
HP:0008135 None None None
HP:0006253 Swelling of proximal interphalangeal joints None None
HP:0012291 obsolete Tracheal neoplasm None None
HP:0100176 Pseudoepiphysis of the distal phalanx of the 4th toe None None
HP:0003360 None None None
HP:0006039 None None None
HP:0032565 Vaginal mucosal ulceration None None
HP:0008974 None None None
HP:0009052 None None None
HP:0001193 Ulnar deviation of the hand or of fingers of the hand None None
HP:0100688 None None None
HP:0009001 None None None
HP:0003062 None None None
HP:0007606 Multiple cutaneous malignancies None None
HP:0004984 None None None
HP:0004569 None None None
HP:0006898 None None None
HP:0008821 Hypoplastic inferior ilia None None
HP:0034677 Ankle contracture None None
HP:0006789 Mitochondrial encephalopathy None None
HP:0003859 Cortical diaphyseal thickening of the upper limbs None None
HP:0005923 Abnormal hand metaphysis morphology None None
HP:0008941 None None None
HP:0005270 None None None
HP:0008706 Distal urethral duplication None None
HP:0002989 None None None
HP:0100772 None None None
HP:0008597 None None None
HP:0003904 Wide epiphyses of the upper limbs None None
HP:0100332 None None None
HP:0006578 None None None
HP:0001391 None None None
HP:0007755 Juvenile epithelial corneal dystrophy None None
HP:0007575 None None None
HP:0006366 Adductor longus contractures None None
HP:0007683 None None None
HP:0040287 Axial muscle atrophy None None
HP:0005711 None None None
HP:0200027 None None None
HP:0001578 None None None
HP:0008791 None None None
HP:0003995 Abnormality of the radial head None None
HP:0004096 None None None
HP:0002207 Diffuse reticular or finely nodular infiltrations None None
HP:0009877 None None None
HP:0003303 None None None
HP:0008403 None None None
HP:0002512 Brain stem compression None None
HP:0045035 Decreased urinary copper concentration None None
HP:0000351 None None None
HP:0002220 Melanin pigment aggregation in hair shafts None None
HP:0001292 None None None
HP:0011403 Abnormal umbilical cord blood vessel morphology None None
HP:0003716 Generalized muscular appearance from birth None None
HP:0004065 None None None
HP:0001294 None None None
HP:0005946 Ventilator dependence with inability to wean None None
HP:0006412 None None None
HP:0030480 Abnormal timing of light-adapted flicker electroretinogram None None
HP:0040111 obsolete Bilateral external ear deformity None None
HP:0008117 Shortening of the talar neck None None
HP:0009873 None None None
HP:0007439 Generalized keratosis follicularis None None
HP:0006720 None None None
HP:0008476 Irregular sclerotic endplates None None
HP:0004221 None None None
HP:0006196 None None None
HP:0004981 Prominent styloid process of ulna None None
HP:0003934 Slender humeral diaphysis None None
HP:0008636 Lobular glomerulopathy None None
HP:0003727 None None None
HP:0003833 Laterally deficient tibial plateaux None None
HP:0002685 None None None
HP:0040025 Clinodactyly of the 4th finger None None
HP:0100474 Symphalangism affecting the proximal phalanx of the 4th toe None None
HP:0009641 Aplasia/Hypoplasia of the distal phalanx of the thumb None None
HP:0200101 Decreased/absent ankle reflexes None None
HP:0005825 Mixed sclerosis of humeral metaphyses None None
HP:0100145 Triangular epiphysis of the distal phalanx of the 3rd toe None None
HP:0006750 None None None
HP:0004745 None None None
HP:0006556 None None None
HP:0002805 Accelerated bone age after puberty None None
HP:0003195 None None None
HP:0004242 Broad carpal bones None None
HP:0200070 Peripheral retinal atrophy None None
HP:0001454 Abnormality of the upper arm None None
HP:0008911 None None None
HP:0009822 Aplasia involving forearm bones None None
HP:0000569 None None None
HP:0005166 None None None
HP:0001416 None None None
HP:0003379 None None None
HP:0006589 Flaring of lower rib cage None None
HP:0006361 Irregular femoral epiphysis None None
HP:0007238 Nonarteriosclerotic cerebral calcification None None
HP:0006001 None None None
HP:0008429 None None None
HP:0002391 None None None
HP:0006451 None None None
HP:0005489 None None None
HP:0200077 None None None
HP:0006764 None None None
HP:0000628 None None None
HP:0009077 Weakness of long finger extensor muscles None None
HP:0100476 Symphalangism affecting the distal phalanx of the 3rd toe None None
HP:0006918 Diffuse cerebral sclerosis None None
HP:0006828 None None None
HP:0000827 None None None
HP:0006747 Ganglioneuroblastoma None None
HP:0009474 None None None
HP:0007668 Impaired pursuit initiation and maintenance None None
HP:0008246 None None None
HP:0001293 Cranial nerve compression None None
HP:0000779 None None None
HP:0008139 None None None
HP:0100063 Small epiphyses of the 3rd toe None None
HP:0010137 Triangular epiphysis of the proximal phalanx of the hallux None None
HP:0004893 None None None
HP:0100935 Sclerosis of the middle phalanx of the 2nd toe None None
HP:0007349 None None None
HP:0010189 Osteolytic defects of the distal phalanges of the toes None None
HP:0001529 None None None
HP:0030922 5-minute APGAR score of 2 None None
HP:0008725 None None None
HP:0030622 Abnormal foveal pit on macular OCT None None
HP:0007515 Hypoplastic pilosebaceous units None None
HP:0004919 Galactose intolerance None None
HP:0030516 Homonymous hemianopia None None
HP:0007908 None None None
HP:0003269 Sudanophilic leukodystrophy None None
HP:0002978 None None None
HP:0005523 Lymphoproliferative disorder None None
HP:0006563 Malformation of the hepatic ductal plate None None
HP:0032166 Unusual gastrointestinal infection None None
HP:0032277 Lozenge-shaped umbilicus None None
HP:0000489 obsolete Abnormality of globe location or size None None
HP:0008451 Posterior vertebral hypoplasia None None
HP:0008957 None None None
HP:0002489 None None None
HP:0100070 Fragmentation of the epiphyses of the 4th toe None None
HP:0005002 None None None
HP:0001859 Distal foot symphalangism None None
HP:0003601 None None None
HP:0006757 None None None
HP:0009012 None None None
HP:0000714 None None None
HP:0004503 None None None
HP:0008118 None None None
HP:0004636 None None None
HP:0004413 None None None
HP:0100092 Abnormality of the epiphysis of the middle phalanx of the 3rd toe None None
HP:0008434 Hypoplastic cervical vertebrae None None
HP:0002158 None None None
HP:0010135 Small epiphysis of the proximal phalanx of the hallux None None
HP:0005252 None None None
HP:0009647 None None None
HP:0001553 None None None
HP:0005080 None None None
HP:0007531 None None None
HP:0008376 Nasal dysarthria None None
HP:0002434 None None None
HP:0100080 Enlarged epiphyses of the 5th toe None None
HP:0005048 Synostosis of carpal bones None None
HP:0007190 Neuronal loss in the cerebral cortex None None
HP:0025029 Abnormal enteric neuron morphology None None
HP:0003314 None None None
HP:0006179 Pseudoepiphyses of second metacarpal None None
HP:0007538 None None None
HP:0100835 Benign neoplasm of the central nervous system None None
HP:0032531 Elevated CSF gamma-aminobutyric acid concentration None None
HP:0200085 Limb tremor None None
HP:0100158 Bracket epiphysis of the proximal phalanx of the 3rd toe None None
HP:0006885 None None None
HP:0003806 None None None
HP:0003283 None None None
HP:0004676 Prominent supraorbital arches in adult None None
HP:0008758 None None None
HP:0008125 Second metatarsal posteriorly placed None None
HP:0005774 None None None
HP:0003432 None None None
HP:0005693 None None None
HP:0100457 Osteolytic defects of the proximal phalanx of the 5th toe None None
HP:5200237 Pronunciation difficulties None None
HP:0008966 None None None
HP:0041053 obsolete Fractured head None None
HP:0010062 Osteolytic defects of the phalanges of the hallux None None
HP:0007481 Hyperpigmented nevi None None
HP:0003672 None None None
HP:0002128 None None None
HP:0005660 None None None
BFO:0000050 part of None None
HP:0000247 None None None
HP:0004863 Compensated hemolytic anemia None None
HP:0005757 None None None
HP:0002082 None None None
HP:0007412 Macular hyperpigmented dermopathy None None
HP:0009859 None None None
HP:0004131 None None None
HP:0003717 Minimal subcutaneous fat None None
HP:0010329 Abnormality of the epiphyses of the 3rd toe None None
HP:0003039 None None None
HP:0045027 Abnormality of the thoracic cavity None None
HP:0003987 Fractured ulna None None
HP:0033432 Opportunistic viral infection None None
HP:0000439 None None None
HP:0000724 None None None
HP:0003600 None None None
HP:0100491 Abnormality of lower limb joint None None
HP:0008302 None None None
HP:0030880 Raynaud phenomenon None None
HP:0100192 Bracket epiphysis of the proximal phalanx of the 4th toe None None
HP:0004118 None None None
HP:0006448 None None None
HP:0030565 Best corrected visual acuity 1.2 LogMAR None None
HP:0008274 None None None
HP:0033659 obsolete Crazy-paving pattern None None
HP:0010092 Triangular shaped proximal phalanx of the hallux None None
HP:0001389 None None None
HP:0006122 None None None
HP:0008810 None None None
HP:0004130 None None None
HP:0000018 None None None
HP:0006251 Limited wrist extension None None
HP:0003500 None None None
HP:0008311 Spinal cord posterior columns myelin loss None None
HP:0005204 None None None
HP:0005443 None None None
HP:0008602 None None None
HP:0004022 Sclerotic radial metaphysis with longitudinal striations None None
HP:0009923 None None None
HP:0005275 Cartilaginous ossification of nose None None
HP:0100868 None None None
HP:0100077 Absent epiphyses of the 5th toe None None
HP:0030579 Pinhole visual acuity 1.1 LogMAR None None
HP:0006797 None None None
HP:0003132 None None None
HP:0008394 Congenital onychodystrophy None None
HP:0005913 Abnormal metacarpal epiphysis morphology None None
HP:0004708 None None None
HP:0100273 Neoplasm of the colon None None
HP:0030575 Pinhole visual acuity 0.7 LogMAR None None
HP:0003871 Deformed humerus None None
HP:0100667 None None None
HP:0000428 None None None
HP:0200006 Slanting of the palpebral fissure None None
HP:0007073 None None None
HP:0006187 obsolete Fusion of midphalangeal joints None None
HP:0100483 Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal None None
HP:0200103 None None None
HP:0004494 None None None
HP:0007425 Hyperextensible skin of face None None
HP:0008833 Irregular acetabular roof None None
HP:0007533 None None None
HP:0009176 None None None
HP:0004671 None None None
HP:0005554 None None None
HP:0002004 None None None
HP:0010593 Abnormal fibular epiphysis morphology None None
HP:0002551 None None None
HP:0100485 Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal None None
HP:0410158 obsolete Increased urine O-phosphoethanolamine level None None
HP:0100106 Ivory epiphysis of the distal phalanx of the 2nd toe None None
HP:0000497 Globe retraction and deviation on abduction None None
HP:0002279 None None None
HP:0003983 None None None
HP:0008961 None None None
HP:0004273 Cupped metaphyses of hand bones None None
HP:0006320 None None None
HP:0006466 Ankle flexion contracture None None
HP:0010164 Cone-shaped epiphyses of the toes None None
HP:0100901 Sclerosis of the distal phalanx of the 3rd finger None None
HP:0003629 None None None
HP:0100162 Irregular epiphysis of the proximal phalanx of the 3rd toe None None
HP:0004623 None None None
HP:0004874 None None None
HP:0100573 Muscular cardiac diverticulum None None
HP:0002531 None None None
HP:0003003 Colon cancer None None
HP:0200121 None None None
HP:0002525 None None None
HP:0002770 None None None
HP:0008068 None None None
HP:0004782 obsolete Hypotrichosis of the scalp None None
HP:0009032 None None None
HP:0010141 Enlarged epiphysis of the distal phalanx of the hallux None None
HP:0005869 None None None
HP:0001554 None None None
HP:0002529 Neuronal loss in central nervous system None None
HP:0008505 None None None
HP:0008675 Enlarged polycystic ovaries None None
HP:0003512 None None None
HP:0007177 None None None
HP:0040166 obsolete Abnormality of the periosteum None None
HP:0007978 None None None
HP:0002785 None None None
HP:0005638 Decreased anterioposterior diameter of lumbar vertebral bodies None None
HP:0100295 Muscle fiber atrophy None None
HP:0008373 Puberty and gonadal disorders None None
HP:0001724 obsolete Aortic dilatation None None
HP:0040134 Abnormal hepatic iron concentration None None
HP:0009621 obsolete Ulnar deviation of the thumb None None
HP:0005470 None None None
HP:0004346 None None None
HP:0004765 None None None
HP:0006091 None None None
HP:0005167 None None None
HP:0008252 None None None
HP:0010404 Aplasia/Hypoplasia of the middle phalanx of the 2nd toe None None
HP:0004582 Irregularity of vertebral bodies None None
HP:0001801 None None None
HP:0007084 None None None
HP:0100683 None None None
HP:0002390 Spinal arteriovenous malformation None None
HP:0000258 None None None
HP:0100218 Irregular epiphysis of the middle phalanx of the 5th toe None None
HP:0030535 Abnormal pinhole visual acuity test None None
HP:0033455 obsolete Elevated urinary dicarboxylic acid level None None
HP:0004133 None None None
HP:0006923 None None None
HP:0001930 Nonspherocytic hemolytic anemia None None
HP:0004642 None None None
HP:0007445 None None None
HP:0009366 None None None
HP:0002228 None None None
HP:0030558 Best corrected visual acuity 0.5 LogMAR None None
HP:0008149 None None None
HP:0004110 obsolete Radially deviated index finger phalanges None None
HP:0001910 None None None
HP:0001478 None None None
HP:0010169 Pseudoepiphyses of the toes None None
HP:0001453 None None None
HP:0001001 Abnormality of subcutaneous fat tissue None None
HP:0008086 None None None
HP:0007601 Midline facial capillary hemangioma None None
HP:0006716 Hereditary nonpolyposis colorectal carcinoma None None
HP:0040299 Decreased circulating free fatty acid level None None
HP:0003284 None None None
HP:0004086 None None None
HP:0001785 Ankle swelling None None
HP:0100156 Triangular epiphysis of the middle phalanx of the 3rd toe None None
HP:0002368 None None None
HP:0002294 None None None
HP:0005499 None None None
HP:0009089 None None None
HP:0004109 None None None
HP:0004302 Functional motor deficit None None
HP:0001184 None None None
HP:0009885 obsolete Prenatal short stature None None
HP:0005570 None None None
HP:0010076 Aplasia/Hypoplasia of the distal phalanx of the hallux None None
HP:0006173 None None None
HP:0008167 Very long chain fatty acid accumulation None None
HP:0009605 None None None
HP:0100153 Pseudoepiphysis of the middle phalanx of the 3rd toe None None
HP:0006071 None None None
HP:0005893 None None None
HP:0008878 None None None
HP:0002320 None None None
HP:0040168 obsolete Focal seizures, afebril None None
HP:0000985 None None None
HP:0001797 None None None
HP:0007637 None None None
HP:0006220 None None None
HP:0007712 obsolete Choroidal dystrophy None None
HP:0009705 Synostosis involving the 2nd metacarpal None None
HP:0009013 Congenital absence of gluteal muscles None None
HP:0007945 obsolete Choroidal degeneration None None
HP:0100903 Sclerosis of the distal phalanx of the 5th finger None None
HP:0011349 obsolete Abducens palsy None None
HP:0007121 None None None
HP:0006087 None None None
HP:0007684 None None None
HP:0004068 None None None
HP:0004146 None None None
HP:0011000 Aplasia/Hypoplasia of the optic tract None None
HP:0004726 None None None
HP:0032251 Abnormal immune system morphology None None
HP:0010439 None None None
HP:0009018 None None None
HP:0010165 Enlarged epiphyses of the toes None None
HP:0011598 Right aortic arch with retroesophageal left subclavian artery None None
HP:0001834 None None None
HP:0006869 None None None
HP:0100737 Abnormal hard palate morphology None None
HP:0005382 None None None
HP:0011405 Childhood onset short-limb short stature None None
HP:0003386 None None None
HP:0006153 Disharmonious carpal bone None None
HP:0003318 Cervical spine hypermobility None None
HP:0004548 None None None

Updated google doc

@hrshdhgd
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hrshdhgd commented Feb 22, 2024 •
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Just noticed Edges Deleted is missing... investigating.

@matentzn
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Classes created: 222
ID Label
HP:6000226 Elevated aortic transvalvular pressure gradient
HP:0430098 CD45 expression
HP:0430082 Anti-Dengue virus antibody positivity
HP:0020283 Clumping of lymph node lymphocyte chromatin
HP:0430086 Anti-rubella antibody positivity
HP:0020270 Cytologic atypia in mantle cells
HP:6000198 Reduced muscle phosphorylase kinase activity
HP:0430063 Anti-chlamydia trachomatis-specific antibody positivity
HP:6000180 Triggered by volatile organic compounds
HP:0430075 Mammary blocked duct
HP:0020247 Non-polarized lymph node germinal centers
HP:0020267 Lymph-node follicular sclerosis
HP:6000183 Thickened tympanic membrane
HP:6000257 Spinal cord granuloma
HP:0430057 Anti-chlamydia psittaci antibody positivity
HP:6000176 Anterior neck swelling
HP:0430074 Increased circulating beta-carotene concentration
HP:0430058 Anti-herpes simplex antibody positivity
HP:0020266 Hyalinized lymph-node vessels
HP:6000205 Elevated CSF myelin basic protein concentration
HP:6000189 Decreased circulating ficolin 3 concentration
HP:6000236 Iappropriately low concentration of beta-hydroxybutyrate
HP:6000177 Uvular swelling
HP:6000174 Lateral neck mass
HP:6000219 Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts
HP:0020294 Increased lymph-node cellular CD19 expression
HP:0430076 Positive bloodstream antifungal antibody positivity
HP:6000254 Abnormal proximal convoluted tubule morphology
HP:0430066 Anti-Zikavirus-specific antibody positivity
HP:6000185 Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio
HP:6000200 Reduced hepatic glucose-6-phosphatase activity
HP:6000227 Prosthetic heart valve
HP:0020288 Abnormal lymph-node cellular B-cell marker expression
HP:0020254 Lymph node with poorly defined germinal center borders
HP:0430090 Anti-Powassan virus antibody positivity
HP:6000242 Decreased circulating complement component 1s concentration
HP:0430094 CD5 expression
HP:6000216 Reduced HMG-CoA lyase activity in cultured fibroblasts
HP:0020277 Hodgkin morphology cells
HP:6000240 Reduced circulating pyrimidine 5-prime-nucleotidase activity
HP:6000238 Elevated CSF 5-amino-4-imidazolecarboxyamide concentration
HP:6000194 History of adrenalectomy
HP:0020278 Abnormal lymph-node lymphoctye nuclear morphology
HP:0430054 Anti-microfilaria antibody positivity
HP:0020230 Abnormal lymph-node tissue architecture
HP:0430095 CD10 expression
HP:0020233 Abnormal lymph-node cellular antigen expression
HP:6000255 Demonstration of Leishmania in tissue
HP:6000192 Silica dust exposure
HP:0020257 Mantle zone pattern
HP:6000260 History of recent plant thorn skin puncture
HP:6000222 Painful defecation
HP:0020239 Increased lymph-node epithelioid histiocyte count
HP:0020237 Lymph-node capsular invasion by lymphocytes
HP:6000252 Fetal lung hyperechogenicity
HP:0020287 Abnormal level of lymph-node cellular CD19 expression
HP:6000234 Elevated circulating dihydroxyphenylacetic acid concentration
HP:6000247 Esophageal mass
HP:6000181 History of radiation therapy
HP:6000197 Reduced muscle phosphoglycerate mutase activity
HP:0020295 PAX5 expression
HP:6000225 Single second heart sound
HP:6000256 Pneumocystis cysts in respiratory secretions
HP:0430088 Anti-measles antibody positivity
HP:0020234 Altered lymph-node tissue architecture
HP:6000182 Absent otoacoustic emissions
HP:6000211 Elevated CSF dihydrouracil concentration
HP:0020269 Lymph-node proliferation centers
HP:0430085 Anti-varicella-zoster antibody positivity
HP:6000261 Absent circulating immunoglobulin kappa chain
HP:0020246 Lymph-node follicular lysis
HP:0020263 Absent germinal center tingible body macrophages
HP:0020265 Non-polarized mantle zones
HP:0020250 Abnormal lymph node marginal zone morphology
HP:6000207 Elevated CSF thymine concentration
HP:0430083 Anti-arbovirus antibody positivity
HP:6000266 2-oxoadipic aciduria
HP:6000223 Recent history of caustic substance ingestion
HP:6000251 Small intestinal intraepithelial lymphocytosis
HP:6000243 Reduced circulating cortisol-binding globulin concentration
HP:6000206 Reduced CSF pyridoxal-5'-phosphate concentration
HP:0430071 Abnormal circulating organic compound concentration
HP:6000204 Elevated CSF apolipoprotein B concentration
HP:6000270 Elevated CSF saccharopine concentration
HP:6000237 Elevated circulating 3-hydroxybutyryl-carnitine concentration
HP:0430059 Positive bloodstream virus-specific antibody positivity
HP:6000274 2--hydroxyphenylacetic aciduria
HP:6000187 Anti-thrombospondin type I domain-containing 7A antibody positivity
HP:6000241 Diminished prolactin response to thyrotrophin-releasing hormone stimulation
HP:6000186 Anti-soluble liver antigen/liver pancreas antibody positivity
HP:0430070 Placenta previa
HP:6000232 Splenic necrosis
HP:6000173 Ear pain exacerbated by manipulating tragus or pinna
HP:6000262 Pseudoglioma
HP:6000246 Elevated CSF D-2-hydroxyglutaric acid concentration
HP:6000191 Seminal vesicle cyst
HP:0020292 Decreased lymph-node cellular CD20 expression
HP:0020280 Lymph-node Dutcher bodies
HP:0020293 Decreased lymph-node cellular CD19 expression
HP:6000220 Pharyngeal mass
HP:0430097 CD38 expression
HP:0020241 Clustered lymph node epithelioid histiocytes
HP:0020296 Germinal center B-lymphocyte BCL2 expression
HP:0020229 Abnormal lymph-node biospecimen
HP:6000244 Decreased circulating thyroglobulin concentration
HP:0430077 Anti-coccidioidal antibody positivity
HP:6000272 Elevated circulating octanoylcarnitine concentration
HP:6000271 Elevated circulating glycylproline concentration
HP:6000258 Impaired folate absorption
HP:0020271 Increased lymph-node eosinophils
HP:0020291 Increased lymph-node cellular CD20 expression
HP:6000210 Elevated CSF N-carbamyl-beta-alanine concentration
HP:0020243 Floral-pattern lymph node follicles
HP:0430056 Anti-chikungunya virus antibody positivity
HP:0020281 Finely dispersed lymph node lymphocyte chromatin
HP:6000209 Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration
HP:0020284 Abnormal lymph-node lymphocyte cytoplasm morphology
HP:0430096 CD23 expression
HP:0020231 Abnormal lymph-node cellular finding
HP:6000179 History of gastric bypass surgery
HP:0430079 Anti-mycoplasma antibody positivity
HP:0020273 High lymph node non-germinal center mitotic activity
HP:6000267 Elevated circulating methionine sulfoxide concentration
HP:0430069 Positive JC-virus PCR test in the blood circulation
HP:6000215 Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity
HP:0430084 Anti-lymphocytic choriomeningitis antibody positivity
HP:0430065 Anti-babesia-specific antibody positivity
HP:0430092 BCL2 expression
HP:6000196 Reduced muscle lactate dehydrogenase activity
HP:0430050 Anti-thyroid antibody positivity
HP:6000235 Inappropriately low concentration of acetoacetate
HP:0020245 Crowded lymph-node follicles
HP:0020242 Abnormal lymph-node follicle architecture
HP:0430072 Abnormal circulating beta-carotene concentration
HP:0430061 Positive bloodstream antibacterial antibody positivity
HP:0020264 Lack of germinal center mitotic figures
HP:0020276 Increased large lymphocytes in lymph node
HP:0430091 Marker expression
HP:0430060 Positive bloodstream parasite-specific antibody positivity
HP:6000212 Elevated CSF dihydrothymine concentration
HP:6000259 Positive hydrogen breath test
HP:0020261 Poorly defined primary lymph-node follicles
HP:0020285 Decreased lymph node lymphocyte cytoplasm
HP:6000248 Synovial fluid crystals
HP:0430078 Anti-cryptococcal antibody positivity
HP:6000263 Papillary dermal edema
HP:6000178 Purulent drainage from Stensen duct
HP:0430100 FMC7 expression
HP:0020249 Abnormal lymph-node marginal or mantle zone morphology
HP:6000265 Elevated urinary 3-hydroxykynurenine level
HP:0430068 Positive microfilaria PCR test in the blood circulation
HP:0430067 Positive bloodstream nucleic acid pathogen test
HP:0020251 Abnormal lymph node mantle zone morphology
HP:6000201 Reduced hepatic glucose-6-phosphate translocase activity
HP:6000245 Elevated circulating granulocyte-macrophage colony-stimulating factor concentration
HP:6000233 Carcinoid tumor of the pancreas
HP:0020268 Compressed lymph-node sinuses
HP:0020282 Abnormal lymph-node lymphocyte chromatin
HP:0430089 Anti-schistosoma antibody positivity
HP:6000188 Antisperm antibody positivity
HP:0430052 Anti-SARS-CoV-2 coronavirus antibody positivity
HP:0430053 Anti-West Nile virus antibody positivity
HP:0020262 Progressive transformation of germinal centers
HP:6000231 Abnormal tissue enzyme activity
HP:6000193 Anti-osteoprotegerin antibody positivity
HP:6000275 4-hydroxyphenyllactic aciduria
HP:6000218 Reduced circulating xanthine oxidase activity
HP:0430073 Decreased circulating beta-carotene concentration
HP:6000221 Positive stool occult blood test
HP:0430048 Intracranial calcification
HP:0020236 Vaguely nodular lymph-node architecture
HP:0020240 Scattered lymph node individual epithelioid histiocytes
HP:6000249 Enlarged gastric folds
HP:0020290 CD79a expression
HP:6000253 Necrotizing vasculitis
HP:6000172 Tympanic membrane bulging
HP:0020274 Lymph-node lymphocyte monocytoid morphology
HP:0430080 Anti-rickettsial antibody positivity
HP:0020289 Abnormal level of lymph-node cellular CD20 expression
HP:0430062 Anti-Japanese encephalitis virus-specific antibody positivity
HP:0430093 BCL6 expression
HP:6000195 Elevated mitochondrial citrate synthase synthase activity
HP:0430051 Positive bloodstream pathogen-specific antibody positivity
HP:6000264 Fetal tachycardia
HP:0020244 Colonization of follicles by lymphoma cells
HP:0020275 Reduced lymph node lymphocyte morphological variability
HP:6000269 Elevated urinary pipecolic acid level
HP:6000229 High-set nipples
HP:0020235 Effaced lymph-node architecture
HP:0020253 Lymph node with expanded mantle zones
HP:0430064 Anti-Epstein-Barr virus-specific antibody positivity
HP:0020272 Increased lymph-node plasma cells
HP:0430087 Anti-cytomegalovirus antibody positivity
HP:0020255 Abnormal lymph-node germinal center morphology
HP:6000202 Cerebrospinal fluid erythrocytes
HP:6000228 Failure to increase oxygen saturation on hyperoxia test
HP:0020228 Biospecimen phenotypic feature
HP:0430055 Anti-trypanosoma cruzi antibody positivity
HP:6000213 Elevated circulating Angiotensin-converting enzyme concentration
HP:6000214 Decreased 3-hydroxyisobutyrate dehydrogenase activity
HP:6000203 Elevated CSF cholestanol concentration
HP:6000217 Reduced circulating acyl-CoA oxidase activity
HP:6000250 Gastric intraepithelial lymphocytosis
HP:6000273 Elevated circulating decanoylcarnitine concentration
HP:6000208 Elevated CSF 5-hydroxymethyluracil concentration
HP:0020286 Increased lymph node lymphocyte cytoplasm
HP:0430101 CD19 expression
HP:6000184 Filum terminale lipoma
HP:6000239 Elevated circulating tumor necrosis factor alpha concentration
HP:0020238 Lymph-node extracapsular extension by lymph-node lymphocytes
HP:0020279 Irregular lymph-node lymphocyte nuclei
HP:0430081 Anti-Bartonella henselae antibody positivity
HP:6000175 Occipital location
HP:0020248 Irregularly shaped lymph node germinal centers
HP:0430099 Cyclin D1 expression
HP:0430102 CD20 expression
HP:6000268 Elevated circulating pipecolic acid concentration
HP:0020258 Germinal centers with absent marginal zones
HP:6000190 Abnormal seminal vesicle morphology
HP:6000224 Delayed passage of meconium
HP:6000199 Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts
HP:6000230 Decreased muscle caveolin-3 level
Nodes renamed: 49
ID Old Label New Label
HP:0025319 Rubeosis iridis obsolete Rubeosis iridis
HP:0007544 Piebaldism Piebald skin depigmentation
HP:0040268 Recurrent infections of the middle ear obsolete Recurrent infections of the middle ear
HP:0010961 Intralobar sequestration obsolete Intralobar sequestration
HP:0410058 Increased level of D-threitol in CSF Increased CSF D-threitol concentration
HP:0000976 Eczematoid dermatitis obsolete Eczematoid dermatitis
HP:0100510 Low levels of vitamin C Decreased circulating vitamin C concentration
HP:0040090 Abnormality of the tympanic membrane Abnormal tympanic membrane morphology
HP:0100512 Low levels of vitamin D Decreased circulating vitamin D concentration
HP:0000372 Abnormality of the auditory canal Abnormal auditory canal morphology
HP:0008326 Reduced circulating vitamin B6 level Reduced circulating vitamin B6 circulating
HP:0032477 Elevated circulating vitamin B6 level Elevated circulating vitamin B6 concentration
HP:0100502 Vitamin B12 deficiency Decreased circulating vitamin B12 concentration
HP:0032025 Reduced serum alpha-1-antitrypsin Reduced circulating alpha-1-antitrypsin concentration
HP:0003116 Abnormal echocardiogram obsolete Abnormal echocardiogram
HP:0001163 Abnormality of the metacarpal bones obsolete Abnormality of the metacarpal bones
HP:0000964 Eczema Eczematoid dermatitis
HP:0100505 Low levels of vitamin B5 Decreased circulating vitamin B5 concentration
HP:0001180 Hand oligodactyly obsolete Hand oligodactyly
HP:0011497 Iris neovascularization Rubeosis iridis
HP:0006544 Extrapulmonary sequestrum Extrapulmonary lobar sequestration
HP:0011892 Low levels of vitamin K Decreased circulating vitamin K concentration
HP:0034116 Anti-thyrotropin receptor antibody obsolete Anti-thyrotropin receptor antibody
HP:0040126 Abnormal vitamin B12 level Abnormal circulating vitamin B12 concentration
HP:0010962 Extralobar sequestration obsolete Extralobar sequestration
HP:6000117 Elevated urinary AICA-riboside level obsolete Elevated urinary AICA-riboside level
HP:0008572 External ear malformation obsolete External ear malformation
HP:4000080 Obsolete 4000080 obsolete 4000080
HP:0032476 Abnormal circulating vitamin B6 level Abnormal circulating vitamin B6 concentration
HP:0002151 Increased serum lactate Increased circulating lactate concentration
HP:0003145 Decreased adenosylcobalamin Decreased circulating adenosylcobalamin concentration
HP:0010960 Bronchopulmonary sequestration obsolete Bronchopulmonary sequestration
HP:0007227 Macrogyria obsolete Macrogyria
HP:0100503 Low levels of vitamin B1 Decreased circulating vitamin B1 concentration
HP:0025483 Abnormal circulating thyroglobulin level Abnormal circulating thyroglobulin concentration
HP:0025484 Increased circulating thyroglobulin level Increased circulating thyroglobulin concentration
HP:0040278 Prolactinoma obsolete Prolactinoma
HP:0011111 Abnormality of immune serum protein physiology Abnormal immune serum protein physiology
HP:0011278 Intrapulmonary sequestration Intrapulmonary lobar sequestration
HP:0009380 Aplasia of the fingers Finger aplasia
HP:0033919 Medial/intimal arcuate venulitis obsolete Medial/intimal arcuate venulitis
HP:0100506 Low levels of vitamin B8 Decreased circulating vitamin B8 concentration
HP:0100504 Low levels of vitamin B2 Decreased circulating vitamin B2 concentration
HP:0034041 Ventricular ectopy obsolete Ventricular ectopy
HP:0003223 Decreased methylcobalamin Decreased circulating methylcobalamin concentration
HP:0410075 Increased level of xylitol in CSF Increased CSF xylitol concentration
HP:0410073 Increased level of ribose in CSF Increased CSF ribose concentration
HP:0003262 Smooth muscle antibody positivity Anti-smooth muscle antibody positivity
HP:0410071 Increased level of ribitol in CSF Increased CSF ribitol concentration
Text definitions changed: 26
ID Label Old Text Definition New Text Definition
HP:0030208 Anti-acetylcholine receptor antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury. The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury.
HP:0033917 Arcuate intimal/medial venulitis Inflammation of arcuate veins of the kidney, which may involve only the intima or can be transmural. Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural.
HP:0007544 Piebald skin depigmentation Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution. Congenital large depigmented (white) macule of irergular rhomboid shape. Piebald skin depigmentation generally presents with multiple such macules in the affected individual. There may be smaller (5-15mm), discrete, skin-colored and hyperpigmented macules interspersed within the depigmented macules.
HP:0034690 Reduced short-chain acyl-CoA dehydrogenase activity Diminished activbity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyses the first step in mitochondrial beta-oxidation of fatty acids. Diminished activity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyses the first step in mitochondrial beta-oxidation of fatty acids.
HP:0410058 Increased CSF D-threitol concentration An increase in the level of D-threitol in the cerebrospinal fluid. The concentration of D-threitol in the cerebrospinal fluid is above the upper limit of normal.
HP:0005849 Diffuse cerebral calcification Generalized deposition of calcium salts within the brain. Generalized deposition of calcium salts within the cerebrum.
HP:0100510 Decreased circulating vitamin C concentration A reduced concentration of Vitamin C. The concentration of vitamin C in the blood circulation is below the lower limit of normal.
HP:0040090 Abnormal tympanic membrane morphology An abnormality of the tympanic membrane Any structural abnormality of the tympanic membrane
HP:0100512 Decreased circulating vitamin D concentration A reduced concentration of Vitamin D. The concentration of vitamin D in the blood circulation is below the lower limit of normal.
HP:0005671 Bilateral intracerebral calcifications Deposition of calcium salts on both sides of the brain. Deposition of calcium salts on both sides of the cerebrum.
HP:0000372 Abnormal auditory canal morphology An abnormality of the External acoustic tube (also known as the auditory canal). Any structural abnormality of the external acoustic tube (also known as the auditory canal).
HP:0002514 Cerebral calcification The presence of calcium deposition within brain structures. The presence of calcium deposition within the cerebrum.
HP:0032025 Reduced circulating alpha-1-antitrypsin concentration A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs.
HP:0000964 Eczematoid dermatitis Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.
HP:0100505 Decreased circulating vitamin B5 concentration A reduced concentration of vitamin B5. The concentration of vitamin B5 in the blood circulation is below the lower limit of normal.
HP:0011497 Rubeosis iridis New growth of vessels on the surface of the iris. Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification.
HP:0011892 Decreased circulating vitamin K concentration A reduced concentration of vitamin K. The concentration of vitamin K in the blood circulation is below the lower limit of normal.
HP:0003145 Decreased circulating adenosylcobalamin concentration Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12. The concentration of adenosylcobalam in the blood circulation is below the lower limit of normal. Adenosylcobalamin is one of the active forms of vitamin B12.
HP:0100503 Decreased circulating vitamin B1 concentration A reduced concentration of vitamin B1. The concentration of vitamin B1 in the blood circulation is below the lower limit of normal.
HP:0009380 Finger aplasia Aplasia of one or more fingers. A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).
HP:0100506 Decreased circulating vitamin B8 concentration A reduced concentration of vitamin B8. The concentration of vitamin B8 in the blood circulation is below the lower limit of normal.
HP:0100504 Decreased circulating vitamin B2 concentration A reduced concentration of vitamin B2. The concentration of vitamin B2 in the blood circulation is below the lower limit of normal.
HP:0003223 Decreased circulating methylcobalamin concentration Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12. The concentration of methylcobalamin in the blood circulation is below the lower limit of normal. Methylcobalamin is a form of vitamin B12.
HP:0410075 Increased CSF xylitol concentration An increase in the level of xylitol in the cerebrospinal fluid. The concentration of xylitol in the cerebrospinal fluid is above the upper limit of normal.
HP:0410073 Increased CSF ribose concentration An increase in the level of ribose in the cerebrospinal fluid. The concentration of ribose in the cerebrospinal fluid is above the upper limit of normal.
HP:0410071 Increased CSF ribitol concentration An increase in the level of ribitol in the cerebral spinal fluid. The concentration of ribitol in the cerebrospinal fluid is above the upper limit of normal.
Nodes direct merge: 13
ID Label Replacement ID Replacement Label
HP:0025319 obsolete Rubeosis iridis HP:0011497 Rubeosis iridis
HP:0040268 obsolete Recurrent infections of the middle ear HP:0000403 Recurrent otitis media
HP:0010961 obsolete Intralobar sequestration HP:0011278 Intrapulmonary lobar sequestration
HP:0000976 obsolete Eczematoid dermatitis HP:0000964 Eczematoid dermatitis
HP:0001180 obsolete Hand oligodactyly HP:0009380 Finger aplasia
HP:0034116 obsolete Anti-thyrotropin receptor antibody HP:0034189 Anti-thyroid-stimulating hormone receptor antibody positivity
HP:6000117 obsolete Elevated urinary AICA-riboside level HP:0034565 Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level
HP:0008572 obsolete External ear malformation HP:0000377 Abnormal pinna morphology
HP:0010960 obsolete Bronchopulmonary sequestration HP:0100632 Pulmonary sequestration
HP:0007227 obsolete Macrogyria HP:0001302 Pachygyria
HP:0040278 obsolete Prolactinoma HP:0006767 Pituitary prolactin cell adenoma
HP:0033919 obsolete Medial/intimal arcuate venulitis HP:0033917 Arcuate intimal/medial venulitis
HP:0034041 obsolete Ventricular ectopy HP:0006682 Premature ventricular contraction
Nodes obsoleted with direct replacement: 1
ID Label Replacement ID Replacement Label
HP:0010962 obsolete Extralobar sequestration HP:0006544 Extrapulmonary lobar sequestration
Synonyms added: 65
ID Label New Synonym
HP:0001302 Pachygyria Macrogyria
HP:0033917 Arcuate intimal/medial venulitis Medial/intimal arcuate venulitis
HP:0007544 Piebald skin depigmentation Piebaldism
HP:0034836 Cystic nephroma Multilocular cystic renal tumour
HP:0410058 Increased CSF D-threitol concentration Increased level of D-threitol in CSF
HP:5200291 Sleep enactment Rapid eye movement sleep behaviour disorder
HP:5200291 Sleep enactment REM sleep behaviour disorder
HP:0100510 Decreased circulating vitamin C concentration Low levels of vitamin C
HP:0040090 Abnormal tympanic membrane morphology Abnormality of the tympanic membrane
HP:0100512 Decreased circulating vitamin D concentration Low levels of vitamin D
HP:0030764 Ochronosis Ochronotic arthritis
HP:0034756 Fetal exposure history Foetal medication or drug exposure
HP:0100632 Pulmonary sequestration Bronchopulmonary sequestration
HP:0000372 Abnormal auditory canal morphology Abnormality of the auditory canal
HP:0008326 Reduced circulating vitamin B6 circulating Reduced circulating vitamin B6 level
HP:0410156 Increased level of N-acetylneuraminic acid in urine Increased urinary sialic acid
HP:0032477 Elevated circulating vitamin B6 concentration Elevated circulating vitamin B6 level
HP:0032025 Reduced circulating alpha-1-antitrypsin concentration Reduced serum alpha-1-antitrypsin
HP:0100505 Decreased circulating vitamin B5 concentration Low levels of vitamin B5
HP:0011497 Rubeosis iridis Iris neovascularization
HP:0006544 Extrapulmonary lobar sequestration Extralobar sequestration
HP:0006544 Extrapulmonary lobar sequestration Extrapulmonary sequestrum
HP:0011892 Decreased circulating vitamin K concentration Low levels of vitamin K
HP:0004942 Aortic aneurysm Enlarged aorta
HP:5200294 Sexsomnia Sexual behaviour during sleep
HP:0040126 Abnormal circulating vitamin B12 concentration Abnormal vitamin B12 level
HP:5200332 Addictive non-substance behaviors Addiction to a behaviour
HP:0009755 Ankyloblepharon Fused eyelid
HP:0000356 Abnormality of the outer ear External ear malformation
HP:6000087 Penile swelling Penile oedema
HP:0033359 Hyperosthenuria Elevated urine osmolarity
HP:0033359 Hyperosthenuria Elevated urine osmolality
HP:0032476 Abnormal circulating vitamin B6 concentration Abnormal circulating vitamin B6 level
HP:0002151 Increased circulating lactate concentration Increased serum lactate
HP:0006767 Pituitary prolactin cell adenoma Prolactinoma
HP:0100503 Decreased circulating vitamin B1 concentration Low levels of vitamin B1
HP:0025483 Abnormal circulating thyroglobulin concentration Abnormal circulating thyroglobulin level
HP:0025484 Increased circulating thyroglobulin concentration Increased circulating thyroglobulin level
HP:0001385 Hip dysplasia Developmental dysplasia of the hip
HP:0001385 Hip dysplasia DDH
HP:0011111 Abnormal immune serum protein physiology Abnormality of immune serum protein physiology
HP:0010943 Echogenic fetal bowel Hyperechogenic foetal bowel
HP:0011278 Intrapulmonary lobar sequestration Intralobar sequestration
HP:0011278 Intrapulmonary lobar sequestration Intrapulmonary sequestration
HP:0032230 Cytoplasmic antineutrophil antibody positivity Cytoplasmic antineutrophil cytoplasmic antibodies
HP:0032230 Cytoplasmic antineutrophil antibody positivity C-ANCA antibodies
HP:0025379 Anti-thyroid peroxidase antibody positivity Antimicrosomal antibody positivity
HP:0025379 Anti-thyroid peroxidase antibody positivity Antimicrosomal antibodies
HP:0002616 Aortic root aneurysm Enlarged aortic root
HP:0034189 Anti-thyroid-stimulating hormone receptor antibody positivity Anti-thyrotropin receptor antibody
HP:0009380 Finger aplasia Aplasia of the fingers
HP:0009380 Finger aplasia Hand oligodactyly
HP:0009380 Finger aplasia Hand has less than 5 fingers
HP:0034565 Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level Elevated urinary AICA-riboside level
HP:0100506 Decreased circulating vitamin B8 concentration Low levels of vitamin B8
HP:0100504 Decreased circulating vitamin B2 concentration Low levels of vitamin B2
HP:0009920 Nevus of Ota Mongolian spot
HP:0009920 Nevus of Ota Nevus of Ito
HP:0500005 Anal pain Proctalgia
HP:0500005 Anal pain Anorectal pain
HP:5200212 Increased social interactions Amplified socializing, enhanced social interactions, overattentive behaviour
HP:0003223 Decreased circulating methylcobalamin concentration Decreased methylcobalamin
HP:0410075 Increased CSF xylitol concentration Increased level of xylitol in CSF
HP:0410073 Increased CSF ribose concentration Increased level of ribose in CSF
HP:0003262 Anti-smooth muscle antibody positivity Smooth muscle antibody positivity
Synonyms removed: 8
ID Label Removed Synonym
HP:0002655 Spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia tarda
HP:0002514 Cerebral calcification Intracerebral calcifications
HP:0002514 Cerebral calcification Intracranial calcifications
HP:0002514 Cerebral calcification Intracranial calcification
HP:0002514 Cerebral calcification Brain calcification
HP:0001180 obsolete Hand oligodactyly Hand has less than 5 fingers
HP:0100814 Blue nevus Mongolian spot
HP:0008572 obsolete External ear malformation External ear malformation
Text definitions added: 2
ID Label Old Text Definition New Text Definition
HP:0100502 Decreased circulating vitamin B12 concentration None The concentration of vitamin B12 in the blood circulation is below the lower limit of normal.
HP:0100814 Blue nevus None A solitary, bluish, smooth surfaced macule, papule or plaque that is generally round or oval in shape. The histopathology of blue nevi varies by subtype, but general characteristics include a vertical wedge or bulbous shaped proliferation of spindle cells, dendritic melanocytes, and melanophages into a sclerotic dermis or subcutis.

@pnrobinson
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Super! Thanks!
One additional request:
Currently, this is listed as a changed label:
HP:0025319 Rubeosis iridis obsolete Rubeosis iridis
but it would be better to have a separate section to document obsoletion (which almost always means merging terms)

@matentzn
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@pnrobinson thanks - there are some smaller more tweaks we want to do here, I will ping you when its ready for review!

@matentzn
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matentzn commented Feb 26, 2024 •
edited
Loading

Classes created: 1885
ID Label
MONDO:1010597 hyperthyroidism, rabbit
MONDO:0850014 twin-reversed arterial perfusion sequence
MONDO:0700220 disease related to transplantation
MONDO:1010272 renal agenesis, non-human animal
MONDO:1010135 protoporphyria, non-human animal
MONDO:0859146 growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
MONDO:1011098 alkaptonuria, domestic cat
MONDO:0850092 post-cardiac arrest syndrome
MONDO:0700247 RAB18 deficiency
Other nodes created: 9
ID Label
orphanet_rare None
CLINGEN_LABEL None
inferred_rare None
https://w3id.org/sssom/object_label object_label
OMO:0003005 None
mondo_rare None
rare_grouping None
should_conform_to should_conform_to
nord_rare None
Nodes deleted: 306
ID Label
CL:0002494 None
CHR:9606-chr5 None
CHR:9606-chrY None
UBERON:0000017 None
CHR:9606-chr3 None
CHR:9606-chr2 None
CL:1000433 None
CL:0011019 None
Nodes obsoleted: 524
ID Label
MONDO:0022397 obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
MONDO:0015111 obsolete gastroesophageal disease
MONDO:0018340 obsolete hereditary isolated aplastic anemia
MONDO:0016592 obsolete non-hereditary degenerative ataxia
MONDO:0015950 obsolete inherited skin tumor
MONDO:0020075 obsolete hereditary non-syndromic obesity
MONDO:0016072 obsolete anomaly of puberty or/and menstrual cycle of genetic origin
MONDO:0020294 obsolete atrial defect and interatrial communication
MONDO:0015921 obsolete ARX-related epileptic encephalopathy
MONDO:0019608 obsolete 46,XX disorder of sex development induced by maternal-derived androgen
MONDO:0015207 obsolete non-syndromic esophageal malformation
MONDO:0018720 obsolete common cystic lymphatic malformation
Nodes obsoleted with replacement: 58
ID Label Replacement ID Replacement Label
MONDO:0034147 obsolete neonatal epileptic encephalopathy due to glutaminase deficiency MONDO:0032678 developmental and epileptic encephalopathy, 71
MONDO:0015398 obsolete hemifacial microsomia MONDO:0015397 craniofacial microsomia
MONDO:0012018 obsolete myopathy, myosin storage, autosomal dominant MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant
Nodes renamed: 163
ID Old Label New Label
MONDO:0012687 familial cavitary optic disc anomaly familial cavitary optic disk anomaly
MONDO:0006648 anterior compartment syndrome anterior compartment of tibia syndrome
Text definitions changed: 802
ID Label Old Text Definition New Text Definition
MONDO:0012921 type 1 diabetes mellitus 22 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene. An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene.
MONDO:0017583 mirror polydactyly-vertebral segmentation-limbs defects syndrome Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterised by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene. Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.
MONDO:0015215 obsolete non-syndromic diaphragmatic or abdominal wall malformation A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome. OBSOLETE. A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome.
Synonyms added: 6866
ID Label New Synonym Predicate
MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction adenosine deaminase, elevated, hemolytic anaemia due to oio:hasExactSynonym
MONDO:0005580 esophageal squamous cell carcinoma squamous cell car. - oesophagus oio:hasExactSynonym
MONDO:0005580 esophageal squamous cell carcinoma scc of oesophagus oio:hasExactSynonym
MONDO:0002037 pleural disorder non-neoplastic pleural disease oio:hasNarrowSynonym
MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym
Synonym predicates changed: 265
ID Label Old Predicate New Predicate Synonym
MONDO:0002037 pleural disorder oio:hasExactSynonym oio:hasNarrowSynonym non-neoplastic pleural disease
MONDO:0001713 inherited aplastic anemia oio:hasRelatedSynonym oio:hasExactSynonym constitutional aplastic anaemia
MONDO:0008401 pleomorphic adenoma oio:hasExactSynonym oio:hasRelatedSynonym mixed tumor of the salivary gland
MONDO:0010250 intellectual disability, X-linked 49 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, X-linked 15
Synonyms removed: 469
ID Label Removed Synonym
MONDO:0018872 acute megakaryoblastic leukemia acute megakaryoblastic leukaemia, FAB M7
MONDO:0018872 acute megakaryoblastic leukemia acute megakaryoblastic leukaemia
MONDO:0007078 pseudohypoparathyroidism type 1A pseudohypoparathyroidism Ia
MONDO:0007078 pseudohypoparathyroidism type 1A pseudohypoparathyroidism, type IA
MONDO:0007078 pseudohypoparathyroidism type 1A pseudohypoparathyroidism type 1A
MONDO:0007078 pseudohypoparathyroidism type 1A pseudohypoparathyroidism, type 1A
MONDO:0013731 MEGF10-related myopathy MEGF10 Myopathy
MONDO:0013731 MEGF10-related myopathy MEGF10-Related Myopathy
MONDO:0010250 intellectual disability, X-linked 49 raynaud-claes syndrome, X-linked dominant
MONDO:0013863 combined immunodeficiency due to LRBA deficiency Cid due to LRBA deficiency
MONDO:0015398 obsolete hemifacial microsomia first branchial arch syndrome
Text definitions added: 35
ID Label Old Text Definition New Text Definition
MONDO:0800368 cardiomyopathy, dilated, 1MM None A dilated cardiomyopathy that has material basis in heterozygous mutation in the MYBPC3 gene on chromosome 11p11.
MONDO:0018582 GCGR-related hyperglucagonemia None A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus.
MONDO:0030300 cardiomyopathy, dilated, 2D None A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has material basis in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13.

@hrshdhgd
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hrshdhgd commented Mar 1, 2024

Latest iteration.

Classes added: 222
Term
Floral-pattern lymph node follicles (HP:0020243)
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio (HP:6000185)
Purulent drainage from Stensen duct (HP:6000178)
Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity (HP:6000215)
Anti-Bartonella henselae antibody positivity (HP:0430081)
Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts (HP:6000219)
Anti-osteoprotegerin antibody positivity (HP:6000193)
Uvular swelling (HP:6000177)
Positive bloodstream nucleic acid pathogen test (HP:0430067)
History of adrenalectomy (HP:6000194)
Lack of germinal center mitotic figures (HP:0020264)
Intracranial calcification (HP:0430048)
Reduced hepatic glucose-6-phosphatase activity (HP:6000200)
Increased lymph-node plasma cells (HP:0020272)
Recent history of caustic substance ingestion (HP:6000223)
Lymph-node lymphocyte monocytoid morphology (HP:0020274)
Reduced lymph node lymphocyte morphological variability (HP:0020275)
Pseudoglioma (HP:6000262)
Esophageal mass (HP:6000247)
Lymph-node capsular invasion by lymphocytes (HP:0020237)
Cyclin D1 expression (HP:0430099)
CD45 expression (HP:0430098)
Anti-chlamydia trachomatis-specific antibody positivity (HP:0430063)
Reduced circulating cortisol-binding globulin concentration (HP:6000243)
Anti-lymphocytic choriomeningitis antibody positivity (HP:0430084)
Increased lymph-node cellular CD20 expression (HP:0020291)
Increased lymph-node cellular CD19 expression (HP:0020294)
Progressive transformation of germinal centers (HP:0020262)
Positive microfilaria PCR test in the blood circulation (HP:0430068)
Anti-Zikavirus-specific antibody positivity (HP:0430066)
Vaguely nodular lymph-node architecture (HP:0020236)
Anti-varicella-zoster antibody positivity (HP:0430085)
CD23 expression (HP:0430096)
Antisperm antibody positivity (HP:6000188)
Abnormal lymph-node lymphocyte cytoplasm morphology (HP:0020284)
Positive JC-virus PCR test in the blood circulation (HP:0430069)
Compressed lymph-node sinuses (HP:0020268)
Anti-thrombospondin type I domain-containing 7A antibody positivity (HP:6000187)
CD5 expression (HP:0430094)
Decreased circulating thyroglobulin concentration (HP:6000244)
Abnormal lymph-node germinal center morphology (HP:0020255)
Non-polarized lymph node germinal centers (HP:0020247)
Silica dust exposure (HP:6000192)
Hyalinized lymph-node vessels (HP:0020266)
Lymph-node Dutcher bodies (HP:0020280)
Occipital location (HP:6000175)
Finely dispersed lymph node lymphocyte chromatin (HP:0020281)
Anti-cryptococcal antibody positivity (HP:0430078)
Abnormal level of lymph-node cellular CD19 expression (HP:0020287)
Anti-SARS-CoV-2 coronavirus antibody positivity (HP:0430052)
Increased lymph-node epithelioid histiocyte count (HP:0020239)
Anti-cytomegalovirus antibody positivity (HP:0430087)
High lymph node non-germinal center mitotic activity (HP:0020273)
Anti-soluble liver antigen/liver pancreas antibody positivity (HP:6000186)
Decreased circulating beta-carotene concentration (HP:0430073)
Anti-West Nile virus antibody positivity (HP:0430053)
Elevated circulating octanoylcarnitine concentration (HP:6000272)
Elevated CSF 5-hydroxymethyluracil concentration (HP:6000208)
Lymph-node follicular lysis (HP:0020246)
Increased lymph node lymphocyte cytoplasm (HP:0020286)
Splenic necrosis (HP:6000232)
Abnormal lymph-node lymphocyte chromatin (HP:0020282)
Elevated aortic transvalvular pressure gradient (HP:6000226)
Absent otoacoustic emissions (HP:6000182)
Anterior neck swelling (HP:6000176)
Anti-babesia-specific antibody positivity (HP:0430065)
Elevated CSF saccharopine concentration (HP:6000270)
Ear pain exacerbated by manipulating tragus or pinna (HP:6000173)
Positive bloodstream pathogen-specific antibody positivity (HP:0430051)
Abnormal lymph node mantle zone morphology (HP:0020251)
Synovial fluid crystals (HP:6000248)
Abnormal level of lymph-node cellular CD20 expression (HP:0020289)
Decreased lymph-node cellular CD19 expression (HP:0020293)
Inappropriately low concentration of acetoacetate (HP:6000235)
Cerebrospinal fluid erythrocytes (HP:6000202)
Spinal cord granuloma (HP:6000257)
Demonstration of Leishmania in tissue (HP:6000255)
Germinal centers with absent marginal zones (HP:0020258)
Scattered lymph node individual epithelioid histiocytes (HP:0020240)
Triggered by volatile organic compounds (HP:6000180)
Elevated circulating Angiotensin-converting enzyme concentration (HP:6000213)
Single second heart sound (HP:6000225)
2-oxoadipic aciduria (HP:6000266)
Reduced circulating xanthine oxidase activity (HP:6000218)
Abnormal lymph-node follicle architecture (HP:0020242)
Thickened tympanic membrane (HP:6000183)
CD20 expression (HP:0430102)
Anti-chlamydia psittaci antibody positivity (HP:0430057)
Anti-rickettsial antibody positivity (HP:0430080)
Decreased lymph node lymphocyte cytoplasm (HP:0020285)
Reduced muscle phosphoglycerate mutase activity (HP:6000197)
Elevated CSF myelin basic protein concentration (HP:6000205)
Reduced circulating pyrimidine 5-prime-nucleotidase activity (HP:6000240)
Reduced HMG-CoA lyase activity in cultured fibroblasts (HP:6000216)
Enlarged gastric folds (HP:6000249)
Anti-thyroid antibody positivity (HP:0430050)
Elevated urinary pipecolic acid level (HP:6000269)
Abnormal seminal vesicle morphology (HP:6000190)
Decreased lymph-node cellular CD20 expression (HP:0020292)
Abnormal circulating beta-carotene concentration (HP:0430072)
CD38 expression (HP:0430097)
Clustered lymph node epithelioid histiocytes (HP:0020241)
Clumping of lymph node lymphocyte chromatin (HP:0020283)
Anti-Powassan virus antibody positivity (HP:0430090)
Carcinoid tumor of the pancreas (HP:6000233)
Anti-mycoplasma antibody positivity (HP:0430079)
Positive hydrogen breath test (HP:6000259)
Fetal tachycardia (HP:6000264)
Elevated CSF N-carbamyl-beta-alanine concentration (HP:6000210)
Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts (HP:6000199)
Reduced circulating acyl-CoA oxidase activity (HP:6000217)
Filum terminale lipoma (HP:6000184)
Seminal vesicle cyst (HP:6000191)
Abnormal lymph-node biospecimen (HP:0020229)
Irregularly shaped lymph node germinal centers (HP:0020248)
Lateral neck mass (HP:6000174)
Elevated mitochondrial citrate synthase synthase activity (HP:6000195)
Pharyngeal mass (HP:6000220)
Elevated circulating dihydroxyphenylacetic acid concentration (HP:6000234)
Hodgkin morphology cells (HP:0020277)
Anti-Dengue virus antibody positivity (HP:0430082)
Absent circulating immunoglobulin kappa chain (HP:6000261)
Fetal lung hyperechogenicity (HP:6000252)
Elevated CSF dihydrouracil concentration (HP:6000211)
BCL2 expression (HP:0430092)
Elevated urinary 3-hydroxykynurenine level (HP:6000265)
Anti-measles antibody positivity (HP:0430088)
CD79a expression (HP:0020290)
Cytologic atypia in mantle cells (HP:0020270)
Small intestinal intraepithelial lymphocytosis (HP:6000251)
Abnormal lymph-node tissue architecture (HP:0020230)
Mammary blocked duct (HP:0430075)
Germinal center B-lymphocyte BCL2 expression (HP:0020296)
Lymph-node extracapsular extension by lymph-node lymphocytes (HP:0020238)
Absent germinal center tingible body macrophages (HP:0020263)
History of gastric bypass surgery (HP:6000179)
4-hydroxyphenyllactic aciduria (HP:6000275)
Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration (HP:6000209)
Elevated circulating tumor necrosis factor alpha concentration (HP:6000239)
Anti-arbovirus antibody positivity (HP:0430083)
Tympanic membrane bulging (HP:6000172)
Elevated CSF dihydrothymine concentration (HP:6000212)
Altered lymph-node tissue architecture (HP:0020234)
Necrotizing vasculitis (HP:6000253)
Effaced lymph-node architecture (HP:0020235)
Anti-trypanosoma cruzi antibody positivity (HP:0430055)
Painful defecation (HP:6000222)
Reduced hepatic glucose-6-phosphate translocase activity (HP:6000201)
Increased circulating beta-carotene concentration (HP:0430074)
Positive bloodstream antifungal antibody positivity (HP:0430076)
Pneumocystis cysts in respiratory secretions (HP:6000256)
Lymph-node follicular sclerosis (HP:0020267)
Irregular lymph-node lymphocyte nuclei (HP:0020279)
Abnormal circulating organic compound concentration (HP:0430071)
Marker expression (HP:0430091)
Elevated circulating granulocyte-macrophage colony-stimulating factor concentration (HP:6000245)
Crowded lymph-node follicles (HP:0020245)
Prosthetic heart valve (HP:6000227)
Elevated circulating decanoylcarnitine concentration (HP:6000273)
Colonization of follicles by lymphoma cells (HP:0020244)
Anti-schistosoma antibody positivity (HP:0430089)
Iappropriately low concentration of beta-hydroxybutyrate (HP:6000236)
Impaired folate absorption (HP:6000258)
Biospecimen phenotypic feature (HP:0020228)
Anti-Epstein-Barr virus-specific antibody positivity (HP:0430064)
Delayed passage of meconium (HP:6000224)
Anti-Japanese encephalitis virus-specific antibody positivity (HP:0430062)
Abnormal lymph node marginal zone morphology (HP:0020250)
Placenta previa (HP:0430070)
Increased large lymphocytes in lymph node (HP:0020276)
Anti-rubella antibody positivity (HP:0430086)
Anti-coccidioidal antibody positivity (HP:0430077)
Elevated circulating pipecolic acid concentration (HP:6000268)
Positive stool occult blood test (HP:6000221)
Elevated circulating 3-hydroxybutyryl-carnitine concentration (HP:6000237)
Abnormal lymph-node cellular B-cell marker expression (HP:0020288)
Abnormal lymph-node cellular antigen expression (HP:0020233)
Non-polarized mantle zones (HP:0020265)
Elevated CSF D-2-hydroxyglutaric acid concentration (HP:6000246)
Elevated CSF cholestanol concentration (HP:6000203)
Elevated CSF 5-amino-4-imidazolecarboxyamide concentration (HP:6000238)
Increased lymph-node eosinophils (HP:0020271)
Positive bloodstream antibacterial antibody positivity (HP:0430061)
Reduced muscle lactate dehydrogenase activity (HP:6000196)
Mantle zone pattern (HP:0020257)
Decreased muscle caveolin-3 level (HP:6000230)
Anti-herpes simplex antibody positivity (HP:0430058)
Diminished prolactin response to thyrotrophin-releasing hormone stimulation (HP:6000241)
High-set nipples (HP:6000229)
Lymph node with poorly defined germinal center borders (HP:0020254)
BCL6 expression (HP:0430093)
Elevated CSF thymine concentration (HP:6000207)
CD19 expression (HP:0430101)
Reduced CSF pyridoxal-5'-phosphate concentration (HP:6000206)
Lymph node with expanded mantle zones (HP:0020253)
2--hydroxyphenylacetic aciduria (HP:6000274)
Abnormal lymph-node cellular finding (HP:0020231)
Anti-chikungunya virus antibody positivity (HP:0430056)
Abnormal tissue enzyme activity (HP:6000231)
Elevated CSF apolipoprotein B concentration (HP:6000204)
Abnormal lymph-node marginal or mantle zone morphology (HP:0020249)
Abnormal lymph-node lymphoctye nuclear morphology (HP:0020278)
Decreased circulating ficolin 3 concentration (HP:6000189)
Elevated circulating methionine sulfoxide concentration (HP:6000267)
Lymph-node proliferation centers (HP:0020269)
CD10 expression (HP:0430095)
Elevated circulating glycylproline concentration (HP:6000271)
Positive bloodstream parasite-specific antibody positivity (HP:0430060)
Failure to increase oxygen saturation on hyperoxia test (HP:6000228)
FMC7 expression (HP:0430100)
Reduced muscle phosphorylase kinase activity (HP:6000198)
Decreased 3-hydroxyisobutyrate dehydrogenase activity (HP:6000214)
History of recent plant thorn skin puncture (HP:6000260)
Decreased circulating complement component 1s concentration (HP:6000242)
Abnormal proximal convoluted tubule morphology (HP:6000254)
Anti-microfilaria antibody positivity (HP:0430054)
Gastric intraepithelial lymphocytosis (HP:6000250)
Papillary dermal edema (HP:6000263)
History of radiation therapy (HP:6000181)
Positive bloodstream virus-specific antibody positivity (HP:0430059)
PAX5 expression (HP:0020295)
Poorly defined primary lymph-node follicles (HP:0020261)
Nodes merged: 13
Term Replacement
obsolete Intralobar sequestration (HP:0010961) Intrapulmonary lobar sequestration (HP:0011278)
obsolete Ventricular ectopy (HP:0034041) Premature ventricular contraction (HP:0006682)
obsolete Anti-thyrotropin receptor antibody (HP:0034116) Anti-thyroid-stimulating hormone receptor antibody positivity (HP:0034189)
obsolete Elevated urinary AICA-riboside level (HP:6000117) Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level (HP:0034565)
obsolete External ear malformation (HP:0008572) Abnormal pinna morphology (HP:0000377)
obsolete Rubeosis iridis (HP:0025319) Rubeosis iridis (HP:0011497)
obsolete Hand oligodactyly (HP:0001180) Finger aplasia (HP:0009380)
obsolete Eczematoid dermatitis (HP:0000976) Eczematoid dermatitis (HP:0000964)
obsolete Macrogyria (HP:0007227) Pachygyria (HP:0001302)
obsolete Bronchopulmonary sequestration (HP:0010960) Pulmonary sequestration (HP:0100632)
obsolete Recurrent infections of the middle ear (HP:0040268) Recurrent otitis media (HP:0000403)
obsolete Medial/intimal arcuate venulitis (HP:0033919) Arcuate intimal/medial venulitis (HP:0033917)
obsolete Prolactinoma (HP:0040278) Pituitary prolactin cell adenoma (HP:0006767)
Nodes obsoleted with replacement: 1
Term Replacement
obsolete Extralobar sequestration (HP:0010962) Extrapulmonary lobar sequestration (HP:0006544)
Nodes renamed: 32
ID Old Label New Label
HP:0007544 Piebaldism Piebald skin depigmentation
HP:0100504 Low levels of vitamin B2 Decreased circulating vitamin B2 concentration
HP:0003223 Decreased methylcobalamin Decreased circulating methylcobalamin concentration
HP:0032477 Elevated circulating vitamin B6 level Elevated circulating vitamin B6 concentration
HP:0410073 Increased level of ribose in CSF Increased CSF ribose concentration
HP:0002151 Increased serum lactate Increased circulating lactate concentration
HP:0006544 Extrapulmonary sequestrum Extrapulmonary lobar sequestration
HP:0410058 Increased level of D-threitol in CSF Increased CSF D-threitol concentration
HP:0100512 Low levels of vitamin D Decreased circulating vitamin D concentration
HP:0100510 Low levels of vitamin C Decreased circulating vitamin C concentration
HP:0011278 Intrapulmonary sequestration Intrapulmonary lobar sequestration
HP:0040126 Abnormal vitamin B12 level Abnormal circulating vitamin B12 concentration
HP:0000372 Abnormality of the auditory canal Abnormal auditory canal morphology
HP:0025483 Abnormal circulating thyroglobulin level Abnormal circulating thyroglobulin concentration
HP:0011497 Iris neovascularization Rubeosis iridis
HP:0100506 Low levels of vitamin B8 Decreased circulating vitamin B8 concentration
HP:0003262 Smooth muscle antibody positivity Anti-smooth muscle antibody positivity
HP:0025484 Increased circulating thyroglobulin level Increased circulating thyroglobulin concentration
HP:0100502 Vitamin B12 deficiency Decreased circulating vitamin B12 concentration
HP:0040090 Abnormality of the tympanic membrane Abnormal tympanic membrane morphology
HP:0410075 Increased level of xylitol in CSF Increased CSF xylitol concentration
HP:0011892 Low levels of vitamin K Decreased circulating vitamin K concentration
HP:0100505 Low levels of vitamin B5 Decreased circulating vitamin B5 concentration
HP:0000964 Eczema Eczematoid dermatitis
HP:0009380 Aplasia of the fingers Finger aplasia
HP:0003145 Decreased adenosylcobalamin Decreased circulating adenosylcobalamin concentration
HP:0410071 Increased level of ribitol in CSF Increased CSF ribitol concentration
HP:0032476 Abnormal circulating vitamin B6 level Abnormal circulating vitamin B6 concentration
HP:0008326 Reduced circulating vitamin B6 level Reduced circulating vitamin B6 circulating
HP:0100503 Low levels of vitamin B1 Decreased circulating vitamin B1 concentration
HP:0032025 Reduced serum alpha-1-antitrypsin Reduced circulating alpha-1-antitrypsin concentration
HP:0011111 Abnormality of immune serum protein physiology Abnormal immune serum protein physiology
Text definitions changed: 26
Term Old Text Definition New Text Definition
Piebald skin depigmentation (HP:0007544) Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution. Congenital large depigmented (white) macule of irergular rhomboid shape. Piebald skin depigmentation generally presents with multiple such macules in the affected individual. There may be smaller (5-15mm), discrete, skin-colored and hyperpigmented macules interspersed within the depigmented macules.
Decreased circulating vitamin B2 concentration (HP:0100504) A reduced concentration of vitamin B2. The concentration of vitamin B2 in the blood circulation is below the lower limit of normal.
Arcuate intimal/medial venulitis (HP:0033917) Inflammation of arcuate veins of the kidney, which may involve only the intima or can be transmural. Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural.
Decreased circulating methylcobalamin concentration (HP:0003223) Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12. The concentration of methylcobalamin in the blood circulation is below the lower limit of normal. Methylcobalamin is a form of vitamin B12.
Increased CSF ribose concentration (HP:0410073) An increase in the level of ribose in the cerebrospinal fluid. The concentration of ribose in the cerebrospinal fluid is above the upper limit of normal.
Anti-acetylcholine receptor antibody positivity (HP:0030208) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury. The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury.
Increased CSF D-threitol concentration (HP:0410058) An increase in the level of D-threitol in the cerebrospinal fluid. The concentration of D-threitol in the cerebrospinal fluid is above the upper limit of normal.
Decreased circulating vitamin D concentration (HP:0100512) A reduced concentration of Vitamin D. The concentration of vitamin D in the blood circulation is below the lower limit of normal.
Decreased circulating vitamin C concentration (HP:0100510) A reduced concentration of Vitamin C. The concentration of vitamin C in the blood circulation is below the lower limit of normal.
Abnormal auditory canal morphology (HP:0000372) An abnormality of the External acoustic tube (also known as the auditory canal). Any structural abnormality of the external acoustic tube (also known as the auditory canal).
Rubeosis iridis (HP:0011497) New growth of vessels on the surface of the iris. Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification.
Decreased circulating vitamin B8 concentration (HP:0100506) A reduced concentration of vitamin B8. The concentration of vitamin B8 in the blood circulation is below the lower limit of normal.
Abnormal tympanic membrane morphology (HP:0040090) An abnormality of the tympanic membrane Any structural abnormality of the tympanic membrane
Increased CSF xylitol concentration (HP:0410075) An increase in the level of xylitol in the cerebrospinal fluid. The concentration of xylitol in the cerebrospinal fluid is above the upper limit of normal.
Decreased circulating vitamin K concentration (HP:0011892) A reduced concentration of vitamin K. The concentration of vitamin K in the blood circulation is below the lower limit of normal.
Reduced short-chain acyl-CoA dehydrogenase activity (HP:0034690) Diminished activbity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyses the first step in mitochondrial beta-oxidation of fatty acids. Diminished activity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyses the first step in mitochondrial beta-oxidation of fatty acids.
Decreased circulating vitamin B5 concentration (HP:0100505) A reduced concentration of vitamin B5. The concentration of vitamin B5 in the blood circulation is below the lower limit of normal.
Diffuse cerebral calcification (HP:0005849) Generalized deposition of calcium salts within the brain. Generalized deposition of calcium salts within the cerebrum.
Eczematoid dermatitis (HP:0000964) Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.
Finger aplasia (HP:0009380) Aplasia of one or more fingers. A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).
Decreased circulating adenosylcobalamin concentration (HP:0003145) Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12. The concentration of adenosylcobalam in the blood circulation is below the lower limit of normal. Adenosylcobalamin is one of the active forms of vitamin B12.
Bilateral intracerebral calcifications (HP:0005671) Deposition of calcium salts on both sides of the brain. Deposition of calcium salts on both sides of the cerebrum.
Increased CSF ribitol concentration (HP:0410071) An increase in the level of ribitol in the cerebral spinal fluid. The concentration of ribitol in the cerebrospinal fluid is above the upper limit of normal.
Decreased circulating vitamin B1 concentration (HP:0100503) A reduced concentration of vitamin B1. The concentration of vitamin B1 in the blood circulation is below the lower limit of normal.
Cerebral calcification (HP:0002514) The presence of calcium deposition within brain structures. The presence of calcium deposition within the cerebrum.
Reduced circulating alpha-1-antitrypsin concentration (HP:0032025) A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs.
Text definitions added: 2
Term New Text Definition
Blue nevus (HP:0100814) A solitary, bluish, smooth surfaced macule, papule or plaque that is generally round or oval in shape. The histopathology of blue nevi varies by subtype, but general characteristics include a vertical wedge or bulbous shaped proliferation of spindle cells, dendritic melanocytes, and melanophages into a sclerotic dermis or subcutis.
Decreased circulating vitamin B12 concentration (HP:0100502) The concentration of vitamin B12 in the blood circulation is below the lower limit of normal.
Mappings removed: 4
Subject Predicate Object
Blue nevus (HP:0100814) oio:hasDbXref MSH:D049328
Blue nevus (HP:0100814) oio:hasDbXref UMLS:C0265985
Blue nevus (HP:0100814) oio:hasDbXref SNOMEDCT_US:40467008
Blue nevus (HP:0100814) oio:hasDbXref UMLS:C4020699
Synonyms added: 65
Term New Synonym Predicate
Cystic nephroma (HP:0034836) Multilocular cystic renal tumour oio:hasExactSynonym
Piebald skin depigmentation (HP:0007544) Piebaldism oio:hasExactSynonym
Decreased circulating vitamin B2 concentration (HP:0100504) Low levels of vitamin B2 oio:hasExactSynonym
Pulmonary sequestration (HP:0100632) Bronchopulmonary sequestration oio:hasExactSynonym
Arcuate intimal/medial venulitis (HP:0033917) Medial/intimal arcuate venulitis oio:hasExactSynonym
Anti-thyroid peroxidase antibody positivity (HP:0025379) Antimicrosomal antibody positivity oio:hasExactSynonym
Anti-thyroid peroxidase antibody positivity (HP:0025379) Antimicrosomal antibodies oio:hasExactSynonym
Ochronosis (HP:0030764) Ochronotic arthritis oio:hasExactSynonym
Decreased circulating methylcobalamin concentration (HP:0003223) Decreased methylcobalamin oio:hasExactSynonym
Cytoplasmic antineutrophil antibody positivity (HP:0032230) Cytoplasmic antineutrophil cytoplasmic antibodies oio:hasExactSynonym
Cytoplasmic antineutrophil antibody positivity (HP:0032230) C-ANCA antibodies oio:hasExactSynonym
Hyperosthenuria (HP:0033359) Elevated urine osmolarity oio:hasExactSynonym
Hyperosthenuria (HP:0033359) Elevated urine osmolality oio:hasExactSynonym
Elevated circulating vitamin B6 concentration (HP:0032477) Elevated circulating vitamin B6 level oio:hasExactSynonym
Aortic aneurysm (HP:0004942) Enlarged aorta oio:hasExactSynonym
Increased CSF ribose concentration (HP:0410073) Increased level of ribose in CSF oio:hasExactSynonym
Increased circulating lactate concentration (HP:0002151) Increased serum lactate oio:hasExactSynonym
Extrapulmonary lobar sequestration (HP:0006544) Extralobar sequestration oio:hasExactSynonym
Extrapulmonary lobar sequestration (HP:0006544) Extrapulmonary sequestrum oio:hasExactSynonym
Increased CSF D-threitol concentration (HP:0410058) Increased level of D-threitol in CSF oio:hasExactSynonym
Sexsomnia (HP:5200294) Sexual behaviour during sleep oio:hasExactSynonym
Increased level of N-acetylneuraminic acid in urine (HP:0410156) Increased urinary sialic acid oio:hasBroadSynonym
Aortic root aneurysm (HP:0002616) Enlarged aortic root oio:hasExactSynonym
Decreased circulating vitamin D concentration (HP:0100512) Low levels of vitamin D oio:hasExactSynonym
Fetal exposure history (HP:0034756) Foetal medication or drug exposure oio:hasExactSynonym
Decreased circulating vitamin C concentration (HP:0100510) Low levels of vitamin C oio:hasExactSynonym
Intrapulmonary lobar sequestration (HP:0011278) Intrapulmonary sequestration oio:hasExactSynonym
Intrapulmonary lobar sequestration (HP:0011278) Intralobar sequestration oio:hasExactSynonym
Abnormal circulating vitamin B12 concentration (HP:0040126) Abnormal vitamin B12 level oio:hasExactSynonym
Abnormal auditory canal morphology (HP:0000372) Abnormality of the auditory canal oio:hasExactSynonym
Abnormal circulating thyroglobulin concentration (HP:0025483) Abnormal circulating thyroglobulin level oio:hasExactSynonym
Sleep enactment (HP:5200291) Rapid eye movement sleep behaviour disorder oio:hasExactSynonym
Sleep enactment (HP:5200291) REM sleep behaviour disorder oio:hasExactSynonym
Nevus of Ota (HP:0009920) Mongolian spot oio:hasExactSynonym
Nevus of Ota (HP:0009920) Nevus of Ito oio:hasExactSynonym
Echogenic fetal bowel (HP:0010943) Hyperechogenic foetal bowel oio:hasExactSynonym
Rubeosis iridis (HP:0011497) Iris neovascularization oio:hasExactSynonym
Decreased circulating vitamin B8 concentration (HP:0100506) Low levels of vitamin B8 oio:hasExactSynonym
Penile swelling (HP:6000087) Penile oedema oio:hasExactSynonym
Anti-smooth muscle antibody positivity (HP:0003262) Smooth muscle antibody positivity oio:hasExactSynonym
Increased circulating thyroglobulin concentration (HP:0025484) Increased circulating thyroglobulin level oio:hasExactSynonym
Abnormal tympanic membrane morphology (HP:0040090) Abnormality of the tympanic membrane oio:hasExactSynonym
Pachygyria (HP:0001302) Macrogyria oio:hasExactSynonym
Anti-thyroid-stimulating hormone receptor antibody positivity (HP:0034189) Anti-thyrotropin receptor antibody oio:hasExactSynonym
Increased CSF xylitol concentration (HP:0410075) Increased level of xylitol in CSF oio:hasExactSynonym
Decreased circulating vitamin K concentration (HP:0011892) Low levels of vitamin K oio:hasExactSynonym
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level (HP:0034565) Elevated urinary AICA-riboside level oio:hasExactSynonym
Decreased circulating vitamin B5 concentration (HP:0100505) Low levels of vitamin B5 oio:hasExactSynonym
Ankyloblepharon (HP:0009755) Fused eyelid oio:hasExactSynonym
Finger aplasia (HP:0009380) Aplasia of the fingers oio:hasExactSynonym
Finger aplasia (HP:0009380) Hand oligodactyly oio:hasExactSynonym
Finger aplasia (HP:0009380) Hand has less than 5 fingers oio:hasExactSynonym
Abnormality of the outer ear (HP:0000356) External ear malformation oio:hasExactSynonym
Anal pain (HP:0500005) Anorectal pain oio:hasExactSynonym
Anal pain (HP:0500005) Proctalgia oio:hasExactSynonym
Abnormal circulating vitamin B6 concentration (HP:0032476) Abnormal circulating vitamin B6 level oio:hasExactSynonym
Pituitary prolactin cell adenoma (HP:0006767) Prolactinoma oio:hasExactSynonym
Reduced circulating vitamin B6 circulating (HP:0008326) Reduced circulating vitamin B6 level oio:hasExactSynonym
Increased social interactions (HP:5200212) Amplified socializing, enhanced social interactions, overattentive behaviour oio:hasExactSynonym
Decreased circulating vitamin B1 concentration (HP:0100503) Low levels of vitamin B1 oio:hasExactSynonym
Addictive non-substance behaviors (HP:5200332) Addiction to a behaviour oio:hasExactSynonym
Reduced circulating alpha-1-antitrypsin concentration (HP:0032025) Reduced serum alpha-1-antitrypsin oio:hasExactSynonym
Hip dysplasia (HP:0001385) DDH oio:hasExactSynonym
Hip dysplasia (HP:0001385) Developmental dysplasia of the hip oio:hasExactSynonym
Abnormal immune serum protein physiology (HP:0011111) Abnormality of immune serum protein physiology oio:hasExactSynonym
Synonyms removed: 6
Term Removed Synonym
Blue nevus (HP:0100814) Mongolian spot
Spondyloepiphyseal dysplasia (HP:0002655) Spondyloepiphyseal dysplasia tarda
Cerebral calcification (HP:0002514) Brain calcification
Cerebral calcification (HP:0002514) Intracranial calcifications
Cerebral calcification (HP:0002514) Intracerebral calcifications
Cerebral calcification (HP:0002514) Intracranial calcification
Edges removed: 41
Subject Predicate Object
Abnormal circulating selenium concentration (HP:0031903) subClassOf (rdfs:subClassOf) Abnormal circulating metabolite concentration (HP:0032180)
Anti-thyroid peroxidase antibody positivity (HP:0025379) subClassOf (rdfs:subClassOf) Autoimmune antibody positivity (HP:0030057)
obsolete External ear malformation (HP:0008572) subClassOf (rdfs:subClassOf) Abnormal pinna morphology (HP:0000377)
Glue ear (HP:0040262) subClassOf (rdfs:subClassOf) Abnormality of the middle ear (HP:0000370)
obsolete Hand oligodactyly (HP:0001180) subClassOf (rdfs:subClassOf) Oligodactyly (HP:0012165)
obsolete Hand oligodactyly (HP:0001180) subClassOf (rdfs:subClassOf) Finger aplasia (HP:0009380)
Anti-thyroglobulin antibody positivity (HP:0032069) subClassOf (rdfs:subClassOf) Autoimmune antibody positivity (HP:0030057)
obsolete Prolactinoma (HP:0040278) subClassOf (rdfs:subClassOf) Abnormal pituitary gland morphology (HP:0012503)
Choroid plexus calcification (HP:0006960) subClassOf (rdfs:subClassOf) Cerebral calcification (HP:0002514)
obsolete Extralobar sequestration (HP:0010962) subClassOf (rdfs:subClassOf) obsolete Bronchopulmonary sequestration (HP:0010960)
Abnormal circulating nitrogen compound concentration (HP:0004364) subClassOf (rdfs:subClassOf) Abnormal circulating metabolite concentration (HP:0032180)
Abnormal circulating lipid concentration (HP:0003119) subClassOf (rdfs:subClassOf) Abnormal circulating metabolite concentration (HP:0032180)
obsolete Rubeosis iridis (HP:0025319) subClassOf (rdfs:subClassOf) Abnormal iris vasculature (HP:0007905)
obsolete Eczematoid dermatitis (HP:0000976) subClassOf (rdfs:subClassOf) Eczematoid dermatitis (HP:0000964)
obsolete Macrogyria (HP:0007227) subClassOf (rdfs:subClassOf) Abnormal cortical gyration (HP:0002536)
Abnormal circulating porphyrin concentration (HP:0010472) subClassOf (rdfs:subClassOf) Abnormal circulating metabolite concentration (HP:0032180)
Meningeal calcification (HP:0100250) subClassOf (rdfs:subClassOf) Cerebral calcification (HP:0002514)
Ventricular couplet (HP:0034039) subClassOf (rdfs:subClassOf) obsolete Ventricular ectopy (HP:0034041)
Tympanic membrane hypermobility (HP:6000015) subClassOf (rdfs:subClassOf) Abnormal tympanic membrane morphology (HP:0040090)
obsolete Intralobar sequestration (HP:0010961) subClassOf (rdfs:subClassOf) obsolete Bronchopulmonary sequestration (HP:0010960)
obsolete Ventricular ectopy (HP:0034041) subClassOf (rdfs:subClassOf) Premature ventricular contraction (HP:0006682)
Abnormal circulating amino sulfonic acid concentration (HP:0500180) subClassOf (rdfs:subClassOf) Abnormal circulating metabolite concentration (HP:0032180)
obsolete Anti-thyrotropin receptor antibody (HP:0034116) subClassOf (rdfs:subClassOf) Autoimmune antibody positivity (HP:0030057)
obsolete Elevated urinary AICA-riboside level (HP:6000117) subClassOf (rdfs:subClassOf) Abnormal urine metabolite level (HP:0033354)
Anti-thyroid-stimulating hormone receptor antibody positivity (HP:0034189) subClassOf (rdfs:subClassOf) Autoimmune antibody positivity (HP:0030057)
Otitis media (HP:0000388) subClassOf (rdfs:subClassOf) Abnormality of the middle ear (HP:0000370)
Abnormal circulating carbohydrate concentration (HP:0011013) subClassOf (rdfs:subClassOf) Abnormal circulating metabolite concentration (HP:0032180)
Pituitary calcification (HP:0010513) subClassOf (rdfs:subClassOf) Cerebral calcification (HP:0002514)
Hand monodactyly (HP:0004058) subClassOf (rdfs:subClassOf) obsolete Hand oligodactyly (HP:0001180)
Postaxial oligodactyly (HP:0006210) subClassOf (rdfs:subClassOf) obsolete Hand oligodactyly (HP:0001180)
obsolete Recurrent infections of the middle ear (HP:0040268) subClassOf (rdfs:subClassOf) Abnormality of the middle ear (HP:0000370)
obsolete Recurrent infections of the middle ear (HP:0040268) subClassOf (rdfs:subClassOf) Recurrent infections (HP:0002719)
Abnormal circulating carboxylic acid concentration (HP:0004354) subClassOf (rdfs:subClassOf) Abnormal circulating metabolite concentration (HP:0032180)
obsolete Medial/intimal arcuate venulitis (HP:0033919) subClassOf (rdfs:subClassOf) Abnormal arcuate vein intima/media morphology (HP:0033879)
Abnormal circulating organic amino compound concentration (HP:0033405) subClassOf (rdfs:subClassOf) Abnormal circulating metabolite concentration (HP:0032180)
Unilateral oligodactyly (HP:0006230) subClassOf (rdfs:subClassOf) obsolete Hand oligodactyly (HP:0001180)
Abnormal circulating collagen degradation product concentration (HP:0033386) subClassOf (rdfs:subClassOf) Abnormal circulating metabolite concentration (HP:0032180)
Abnormal circulating creatine concentration (HP:0012113) subClassOf (rdfs:subClassOf) Abnormal circulating metabolite concentration (HP:0032180)
Abnormal circulating coenzyme concentration (HP:0034616) subClassOf (rdfs:subClassOf) Abnormal circulating metabolite concentration (HP:0032180)
obsolete Bronchopulmonary sequestration (HP:0010960) subClassOf (rdfs:subClassOf) Abnormal lung development (HP:4000059)
Cerebral calcification (HP:0002514) subClassOf (rdfs:subClassOf) Ectopic calcification (HP:0010766)
New relationships added: 29
Subject Predicate Object
Abnormal circulating selenium concentration (HP:0031903) subClassOf (rdfs:subClassOf) Abnormal circulating organic compound concentration (HP:0430071)
Anti-thyroid peroxidase antibody positivity (HP:0025379) subClassOf (rdfs:subClassOf) Anti-thyroid antibody positivity (HP:0430050)
Glue ear (HP:0040262) subClassOf (rdfs:subClassOf) Otitis media (HP:0000388)
Anti-thyroglobulin antibody positivity (HP:0032069) subClassOf (rdfs:subClassOf) Anti-thyroid antibody positivity (HP:0430050)
Choroid plexus calcification (HP:0006960) subClassOf (rdfs:subClassOf) Intracranial calcification (HP:0430048)
Abnormal circulating nitrogen compound concentration (HP:0004364) subClassOf (rdfs:subClassOf) Abnormal circulating organic compound concentration (HP:0430071)
Abnormal circulating lipid concentration (HP:0003119) subClassOf (rdfs:subClassOf) Abnormal circulating organic compound concentration (HP:0430071)
Abnormal circulating porphyrin concentration (HP:0010472) subClassOf (rdfs:subClassOf) Abnormal circulating organic compound concentration (HP:0430071)
Positive urine infectious agent nucleid acid test (HP:0034889) subClassOf (rdfs:subClassOf) Positive infectious agent test (HP:0430030)
Congenital hip dislocation (HP:0001374) subClassOf (rdfs:subClassOf) Hip dysplasia (HP:0001385)
Meningeal calcification (HP:0100250) subClassOf (rdfs:subClassOf) Intracranial calcification (HP:0430048)
Ventricular couplet (HP:0034039) subClassOf (rdfs:subClassOf) Premature ventricular contraction (HP:0006682)
Tympanic membrane hypermobility (HP:6000015) subClassOf (rdfs:subClassOf) Abnormal ear physiology (HP:0031704)
Abnormal circulating amino sulfonic acid concentration (HP:0500180) subClassOf (rdfs:subClassOf) Abnormal circulating organic compound concentration (HP:0430071)
Anti-thyroid-stimulating hormone receptor antibody positivity (HP:0034189) subClassOf (rdfs:subClassOf) Anti-thyroid antibody positivity (HP:0430050)
Otitis media (HP:0000388) subClassOf (rdfs:subClassOf) Abnormal middle ear morphology (HP:0008609)
Abnormal circulating carbohydrate concentration (HP:0011013) subClassOf (rdfs:subClassOf) Abnormal circulating organic compound concentration (HP:0430071)
Pituitary calcification (HP:0010513) subClassOf (rdfs:subClassOf) Intracranial calcification (HP:0430048)
Hand monodactyly (HP:0004058) subClassOf (rdfs:subClassOf) Finger aplasia (HP:0009380)
Postaxial oligodactyly (HP:0006210) subClassOf (rdfs:subClassOf) Finger aplasia (HP:0009380)
Abnormal circulating carboxylic acid concentration (HP:0004354) subClassOf (rdfs:subClassOf) Abnormal circulating organic compound concentration (HP:0430071)
Abnormal circulating organic amino compound concentration (HP:0033405) subClassOf (rdfs:subClassOf) Abnormal circulating organic compound concentration (HP:0430071)
Dysharmonic maturation of the hand bones (HP:0004053) subClassOf (rdfs:subClassOf) Dysharmonic bone age (HP:0200000)
Unilateral oligodactyly (HP:0006230) subClassOf (rdfs:subClassOf) Finger aplasia (HP:0009380)
Abnormal circulating collagen degradation product concentration (HP:0033386) subClassOf (rdfs:subClassOf) Abnormal circulating organic compound concentration (HP:0430071)
Abnormal circulating creatine concentration (HP:0012113) subClassOf (rdfs:subClassOf) Abnormal circulating organic compound concentration (HP:0430071)
Abnormal circulating coenzyme concentration (HP:0034616) subClassOf (rdfs:subClassOf) Abnormal circulating organic compound concentration (HP:0430071)
Positive stool infectious agent test (HP:0034866) subClassOf (rdfs:subClassOf) Positive infectious agent test (HP:0430030)
Cerebral calcification (HP:0002514) subClassOf (rdfs:subClassOf) Intracranial calcification (HP:0430048)

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matentzn commented Mar 2, 2024 •
edited by hrshdhgd
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@hrshdhgd this looks awesome.

  • Can you add a make goal that will generate the markdown file (in reports dir)? I can then integrate this into the general release workflow.
  • Given how fast this is, it would be.. pretty awesome if we could also get GHA to paste a comment with this diff on every PR.. What do you think, is this feasible? (If no, just say "no", I know I was a bit of a piece of work on this PR).
  • Small detail: New relationships added should be Relationships added and Edges removed could be Relationships removed to be more consistent with ontology language.

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matentzn reviewed Mar 26, 2024
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I am not reviewing yet because there is still one larger issue in here that needs to be sorted out. There are two possible, but completely distinct ways to run the diff:

  1. branch-local. The strategy is this: You stay on the branch (never switch), download the edit file and preocess it as a seperate make goal, like tmp/hp-branch.owl. Then you compare this to the corresponding local file, like hp.owl.
  2. across-branch. The strategy is this. You checkout the master branch, run the make ontology.owl cache the file (for example in GitHub actions, as you do), then switch to the branch, run the make ontology.owl command again, cache the result. Then you compare the two cached results.

For the GitHub action, we should go with (2), as you mostly do. This means though that all these make goals that depend on an hp-edit that is downloaded from the master branch should be removed from the Makefile (not (!) the commands for the release diff!)

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Fantastic - there is one small bug, and I made a few changes. Can you test if the action still works?

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Fantastic - there is one small bug, and I made a few changes. Can you test if the action still works?

All workflows pass!

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Relationships removed: 4
Subject Predicate Object
Abnormal motor evoked potentials (HP:0012896) subClassOf (rdfs:subClassOf) Abnormal brain-evoked potentials (HP:0430106)
HP:0012893 subClassOf (rdfs:subClassOf) Skeletal muscle hypertrophy (HP:0003712)
HP:0012893 subClassOf (rdfs:subClassOf) Abnormal morphology of the musculature of the neck (HP:0011006)
Scapular muscle hypertrophy (HP:0012895) subClassOf (rdfs:subClassOf) Skeletal muscle hypertrophy (HP:0003712)
Synonyms removed: 1
Term Removed Synonym
Facial muscle hypertrophy (HP:0012892) Increased size of facial muscles
Nodes removed: 1
Term
HP:0012893
Text definitions removed: 1
Term Removed Text Definition
Paraspinal muscle hypertrophy (HP:0012894) Muscle hypertrophy affecting the paraspinal muscles.

@hrshdhgd hrshdhgd assigned matentzn and unassigned hrshdhgd Mar 28, 2024
@matentzn matentzn merged commit fd279fa into master Apr 4, 2024
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@matentzn matentzn deleted the issue-9579-2 branch April 4, 2024 16:50
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