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oculocutaneous albinism

Disease Summary
Associated Targets (17)
Tbio

13

Tclin

2

Tchem

1

Tdark

1


GARD Rare
Mondo Description Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.
Disease Ontology Description An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes.
Mondo Term and Equivalent IDs
MONDO:0018910:  oculocutaneous albinism
GARD:0010958: 
MESH:D016115: 
NCIT:C84941: 
OMIMPS:203100: 
Orphanet:55: 
SCTID:63844009: 
UMLS:C0078918: