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Disease Ontology Browser
oculocutaneous albinism type IB (DOID:0070095)
Alliance: disease page
Synonyms: Albinism, Yellow Mutant Type; OCA1B
Alt IDs: OMIM:606952, MESH:C537729
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory