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X-Linked Nephrogenic Diabetes Insipidus

Disease ID: disease_node_19686

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DbxrefMIM:304800
SubclassofDOID_0080012, DOID_12387
Data SourceDOID
Synonymsnephrogenic diabetes insipidus type 1
Doid LabelX-linked nephrogenic diabetes insipidus
Doid DescriptionA nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28.
Has Material Basis InGENO_0000149
Disease Node Iddisease_node_19686
Doid IdDOID_0081060
LabelX-Linked Nephrogenic Diabetes Insipidus