DISEASES

Disease-gene associations mined from literature

Human genes for autosomal recessive Alport syndrome

Autosomal recessive Alport syndrome [DOID:0110033]

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.

Synonyms:  autosomal recessive Alport syndrome,  DOID:0110033,  autosomal recessive Alport disease,  autosomal recessive Alport disorder,  autosomal recessive Alport syndromes