Term Name: | oculocutaneous albinism type IB |
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Synonyms: | Albinism, Yellow Mutant Type, OCA1B |
Definition: | An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity. |
Ontology: | Human Disease [DOID:0070095] ( DOID:0070095 ) |