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Metadata
ID	DOID:0070095
Name	oculocutaneous albinism type IB
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. https://www.ncbi.nlm.nih.gov/pubmed/18925668
Xrefs	MESH:C537729 OMIM:606952
Synonyms	Albinism, Yellow Mutant Type [EXACT] OCA1B [EXACT]
Parent Relationships	is_a digenic disease is_a oculocutaneous albinism