Human genes for oculocutaneous albinism type IA
Oculocutaneous albinism type IA [DOID:0070094]
An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity.
Synonyms: oculocutaneous albinism type IA, DOID:0070094, oculocutaneous albinism type IAs, OCA1A, Oculocutaneous Albinism, Tyrosinase-Negative ...