Term Name: oculocutaneous albinism type IA
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 )

Relationships
is a type of: oculocutaneous albinism