Term Name: | oculocutaneous albinism type IA |
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Synonyms: | OCA1A, Oculocutaneous Albinism, Tyrosinase-Negative |
Definition: | An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity. |
Ontology: | Human Disease [DOID:0070094] ( DOID:0070094 ) |