All diseases

6 entries on 1 page. Showing entries 1 - 6.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
04214 - retinal disease - - 48173 45676 ADAM9, AGBL5, ARL2BP, BBS2, C8orf37, IFT43, KIF3B, MERTK, PDE6G, REEP6, SCAPER, USH2A, ZNF408 - -
00372 CED dysplasia, cranioectodermal (CED, Sensenbrenner syndrome) - - 10 8 IFT43, WDR35 - -
03548 CED3 dysplasia, cranioectodermal, type 3 (CED3) 614099 AR - - IFT43 - -
05726 RP81 retinitis pigmentosa, type 81 (RP81) 617871 AR - - IFT43 - -
05635 SRTD dysplasia, short-rib thoracic, with/without polydactyly (SRTD) (Jeune syndrome) - - 22 17 DYNC2H1, IFT43, TTC21B, WDR35, WDR60 - -
05732 SRTD18 dysplasia, short-rib thoracic, type 18 with polydactyly (SRTD18) 617866 AR - - IFT43 - -
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