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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

OMIM:606952

Synonyms

Albinism, Yellow Mutant Type [EXACT]

OCA1B [EXACT]

Parent Relationships

is_a oculocutaneous albinism

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