| Term Name: | Alport syndrome 3B |
|---|---|
| Synonyms: | |
| Definition: | An Alport syndrome that is characterized by glomerular basement membrane abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 gene on chromosome 2q36. Sensorineural hearing loss and ocular manifestations may be present. |
| Ontology: | Human Disease [DOID:0051080] ( DOID:0051080 ) |