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 )

Relationships
is a type of: Alport syndrome autosomal recessive disease