| Metadata | |
|---|---|
| ID | DOID:0110034 |
| Name | X-linked Alport syndrome |
| 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). https://www.ncbi.nlm.nih.gov/pubmed/2349482 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
nephropathy and deafness, X-linked [EXACT] |
| Parent Relationships |
is_a Alport syndrome |