Term Name: | X-linked Alport syndrome |
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Synonyms: | nephropathy and deafness, X-linked |
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). |
Ontology: | Human Disease [DOID:0110034] ( DOID:0110034 ) |