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DOID:0110033 - autosomal recessive Alport syndrome
Disease Ontology 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.
Synonyms:
Xenbase Genes :
MONDO:0008762 - autosomal recessive Alport syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee