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oculocutaneous albinism type 6

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.
Uniprot Description A disorder characterized by a reduction or complete loss of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus.
Mondo Term and Equivalent IDs
MONDO:0018264:  oculocutaneous albinism type 6
DOID:0080614: 
Orphanet:370097: 
SCTID:722058005: 
UMLS:C3805375: