Term Name: | autosomal recessive Alport syndrome |
---|---|
Synonyms: | |
Definition: | An Alport syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q. |
Ontology: | Human Disease [DOID:0110033] ( DOID:0110033 ) |