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 )

Relationships
is a type of: Alport syndrome autosomal recessive disease