All diseases

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
05519 AOA ataxia-oculomotor apraxia (AOA) - - 15 14 APTX, PIK3R5, PNKP, SETX - -
01672 EAOH ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (EAOH) 208920 XLD 59 59 APTX - onset childhood, cerebellar ataxia (HP:0001251), cerebellar atrophy (HP:0001272), peripheral neuropathy (HP:0009830), no muscle weakness (-HP:0001324), no developmental delay (-HP:0001263), no seizures (-HP:0001250), hyporeflexia (HP:0001265), no cognitive impairment (-HP:0100543), oculomotor apraxia (HP:0000657),no dystonia (-HP:0001332)
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.