All diseases

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
03430 C1SD C1s deficiency 613783 - 6 5 C1S - -
06174 EDSPD2 Ehlers-Danlos syndrome, periodontal type, 2 617174 AD 13 12 C1S - -
00488 HPS8 Hermansky-Pudlak syndrome, type 8 (HPS-8) 614077 AR - - BLOC1S3 - -
00492 HPS9 Hermansky-Pudlak syndrome, type 9 (HPS-9) 614171 AR - - BLOC1S6 - -
Legend   How to query  


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