Term Name: oculocutaneous albinism type IB
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 )

Relationships
is a type of: digenic disease oculocutaneous albinism