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| Term | oculocutaneous albinism type IA | ID (Ontology) | DOID:0070094 (Human Disease) |
| 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. | ||
| Also Known As | "OCA1A" ; "Oculocutaneous Albinism, Tyrosinase-Negative" | ||
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| DO.org | |||
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autosomal recessive disease__ syndrome_____________________| oculocutaneous albinism |__oculocutaneous albinism type IA |
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| Is a | oculocutaneous albinism | ||
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| MIM:203100 | |||