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| Term | X-linked Alport syndrome | ID (Ontology) | DOID:0110034 (Human Disease) |
| Definition | An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5). | ||
| Also Known As | "nephropathy and deafness, X-linked" | ||
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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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monogenic disease |__Alport syndrome____________ X-linked monogenic disease | |__X-linked dominant disease__| syndrome | |__Alport syndrome____________| X-linked Alport syndrome 1 rec. |
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| Is a |
X-linked dominant disease Alport syndrome |
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External Crossreferences & Linkouts
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MIM:301050 ORDO:88917 |
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