All diseases

1 entry on 1 page. Showing entry 1.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
06713 CHUJANS Chung-Jansen syndrome 617991 AD 4 4 PHIP - large ears, thick eyebrows, synophrys, small nose; global developmental delay (HP:0001263); intellectual disability (HP:0001249); no seizure (-HP:0001250); hypotonia (HP:0001252); no short stature (-HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); tapering fingers, cafe au lait spots, behavioral manifestations
Legend   How to query  


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