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
00475 - albinism, ocular, with sensorineural deafness (Waardenburg syndrome, (WS-2OA)) 103470 - - - MITF, TYR - -
00473 OCA-1A albinism, oculocutaneous, type IA (OCA-1A) 203100 - - - TYR - -
00474 OCA-1B albinism, oculocutaneous, type IB (OCA-1B) 606952 - - - TYR - -
00479 OCA-3 albinism, oculocutaneous, type III (OCA-3) 203290 - - - TYRP1 - -
00032 PLOSL polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) 221770 - - - TREM2, TYROBP - -
00480 SHEP-11 pigmentation, eyes, blue/non-blue, type 11 (SHEP-11, Melanesian blond hair, skin/hair/eye pigmentation) 612271 - - - TYRP1 - -
00476 SHEP-3 pigmentation, eye, blue/green - skin, light/dark/freckling, type 3 (SHEP-3, skin/hair/eye pigmentation) 601800 - - - TYR - -
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