X-linked Alport syndrome

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Echinobase

Summary

Literature (0)

DOID:0110034 - X-linked Alport syndrome

Disease Ontology Definition:An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5).

Synonyms: ATS, nephropathy and deafness, X-linked

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

MIM:

MIM:301050 - alport syndrome, x-linked; ats

MIM:301050 - alport syndrome, x-linked; ats

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): Alport syndrome (is_a), X-linked dominant disease (is_a)