X-linked Alport syndrome

Term ID

DOID:0110034

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). https://www.ncbi.nlm.nih.gov/pubmed/2349482

References

• OMIM:301050
• ORDO:88917

Ontology

Human Disease   ( DOID:0110034 )