Search Ontology:
Human Disease
X-linked Alport syndrome
- Term ID
- DOID:0110034
- Synonyms
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- 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). https://www.ncbi.nlm.nih.gov/pubmed/2349482
- References
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- MIM:301050
- ORDO:88917
- Ontology
- Human Disease ( DOID:0110034 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models