All diseases

7 entries on 1 page. Showing entries 1 - 7.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01339 - fundus albipunctatus (retinitis punctata albescens (RPA)) 136880 AD;AR 110 110 PRPH2, RDH5, RHO, RLBP1 - -
02943 CSNBAD1 blindness, night, stationary, congenital, autosomal dominant, type 1 (CSNBAD-1) 610445 - - - RHO - -
06597 EDFAOB Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic 618727 - - - RHOA - -
00841 EIEE encephalopathy, epileptic, early infantile (EIEE) - - 155 158 CELSR3, CPLX1, HNRNPU, ITPA, PHACTR1, RHOBTB2 - -
05591 EIEE64 encephalopathy, epileptic, early infantile, type 64 (EIEE-64) 618004 AD - - RHOBTB2 - autosomal dominant
06640 EV4 {?Epidermodysplasia verruciformis, susceptibility to, 4} 618307 AR - - RHOH - -
03409 RP4 retinitis pigmentosa, type 4 (RP4) 613731 AD;AR - - RHO - -
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