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| Term | oculocutaneous albinism type IB | ID (Ontology) | DOID:0070095 (Human Disease) |
| 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. | ||
| Also Known As | "Albinism, Yellow Mutant Type" ; "OCA1B" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal recessive disease |__oculocutaneous albinism__ polygenic disease | |__digenic disease__________| syndrome | |__oculocutaneous albinism__| oculocutaneous albinism type IB |
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| Is a |
oculocutaneous albinism digenic disease |
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External Crossreferences & Linkouts
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MESH:C537729 MIM:606952 |
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