| Term Name: | X-linked Alport syndrome |
|---|---|
| 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 ) |