Alport SyndromeGo to external page http://purl.obolibrary.org/obo/NCIT_C34842
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. [ NCI ]
NCIT_C90259, NCIT_C123272, NCIT_C165258
- A genetic syndrome caused by abnormalities in the COL4A5 gene that is characterized by hematuria, progressive renal insufficiency, and, in some cases, hearing loss and ocular abnormalities.
- Alport Syndrome
- Disease or Syndrome