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Disease Ontology Browser
oculocutaneous albinism type IA (DOID:0070094)
Alliance: disease page
Synonyms: OCA1A; Oculocutaneous Albinism, Tyrosinase-Negative
Alt IDs: OMIM:203100
Definition: An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no 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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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory