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Alport syndrome
Disease Summary
Associated Targets (8)
Tbio
8
Mondo Description A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities.
Disease Ontology Description A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:10983
ICD10:Q87.81
NCIT:C34842
OMIMPS:301050
Orphanet:63
UMLS:C1567741
MONDO:0018965
High level summary of knowledge for a disease, including descriptions and datasource references.