All diseases

3 entries on 1 page. Showing entries 1 - 3.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
05904 DEDSM developmental delay and seizures, with/without movement abnormalities (DEDSM) 617836 AD 1 1 DHDDS - -
00112 RP retinitis pigmentosa (RP) 268000 - 1159 897 ADCK4, ARL3, BEST1, CC2D2A, CNGB1, DHDDS, EYS, HKDC1, IDH3A, IMPG1, KIF3B, NR2E3, POC5, PRPF8, RNU4-2, RNU6-1, RNU6-2, RNU6-8, RNU6-9, SLC7A14, SMG8, TMEM216 - -
03471 RP59;CDG1BB retinitis pigmentosa, type 59 (RP59, glycosylation, congenital disorder of, type Ibb (CDG1BB)) 613861 AR 1 - DHDDS - autosomal recessive
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