|
DOID:0112121 - nephrogenic syndrome of inappropriate antidiuresis
Disease Ontology Definition:A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in the AVPR2 gene on chromosome Xq28.
Synonyms: NSIAD,
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):
renal tubular transport disease (is_a)