All diseases

5 entries on 1 page. Showing entries 1 - 5.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
07153 DEHMBA developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 619595 AD - - SRCAP - -
00015 FLHS Floating-Harbor syndrome (FLHS) 136140 AD 74 75 SRCAP - -
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 - -
06588 MRT70 Intellectual developmental disorder, autosomal recessive 70 618402 AR - - RSRC1 - -
06505 THC6 ?Thrombocytopenia 6 616937 AD - - SRC - -
Legend   How to query  


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