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Disease Ontology Browser
Alport syndrome 3B (DOID:0051080)
Alliance: disease page
Alt IDs: OMIM:620536, ORDO:88919
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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/07/2026
MGI 6.24 		The Jackson Laboratory