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X-Linked Alport Syndrome

Disease ID: disease_node_19098

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DbxrefMIM:301050, ORDO:88917
SubclassofDOID_10983, DOID_0080009
Data SourceDOID
Synonymsnephropathy and deafness, X-linked
Doid LabelX-linked Alport syndrome
Doid DescriptionAn Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5).
Has Material Basis InGENO_0000146
Disease Node Iddisease_node_19098
Doid IdDOID_0110034
LabelX-Linked Alport Syndrome