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DOID:0081060 - X-linked nephrogenic diabetes insipidus
Disease Ontology Definition:A 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.
Synonyms: nephrogenic diabetes insipidus type 1
Xenbase Genes
:
avpr2,
avpr2c
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
nephrogenic diabetes insipidus (is_a)