All diseases

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00085 COH1 Cohen syndrome, type 1 216550 AD 17 16 VPS13B - bushy eyebrows and eyelashes, down-slanting palpebral fissures with a wave-shaped outline, high nasal bridge, low-set columella, and a short, upturned philtrum with prominent central incisors; global developmental delay (HP:0001263); intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); high myopia and retinal dystrophy, narrow hands with slender fingers, narrow feet with sandal gap, pubertal delay and neutropenia
00139 ID intellectual disability (ID) - - 2694 2376 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.