nephrogenic syndrome of inappropriate antidiuresis (DOID:0112121)
Alliance: disease page
Synonyms: NSIAD
Alt IDs: OMIM:300539, MESH:C564491, ORDO:93606, UMLS_CUI:C1845202
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.