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oculocutaneous albinism type 4

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.
Uniprot Description A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus.
Mondo Term and Equivalent IDs
MONDO:0011683:  oculocutaneous albinism type 4
MESH:C564696: 
Orphanet:79435: 
SCTID:715632003: 
UMLS:C1847836: