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
00242 CFSMR dysmorphism, craniofacial, skeletal anomalies, and mental retardation syndrome (CFSMR) 614132 - - - TMCO1 - -
01701 CFSMR Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980 AR 4 3 TMCO1 - -
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.