Visualize
Metadata
DOID 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
Synonyms

nephropathy and deafness, X-linked [EXACT]

Xrefs

OMIM:301050

ORDO:88917

Relationships

is_a Alport syndrome

Add an item to the term tracker