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| Term | ocular albinism 1 | ID (Ontology) | DOID:0050633 (Human Disease) |
| Definition | An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin. | ||
| Also Known As | "Albinism ocular 1" ; "ocular albinism" | ||
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| DO.org | |||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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No relevant statements available
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sensory system disease |__eye disease |__ocular albinism 1 |__ocular albinism with sensorineural deafness |
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| Is a | eye disease | ||
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MESH:D016117 MIM:300500 |
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