Visualize Submit Comment

Metadata
ID	DOID:0110033
Name	autosomal recessive Alport syndrome
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. https://www.ncbi.nlm.nih.gov/pubmed/25575550
Xrefs	GARD:625 MIM:203780 ORDO:88919
Subsets	DO_rare_slim
Parent Relationships	is_a Alport syndrome is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance