Term Name: | nephrogenic syndrome of inappropriate antidiuresis |
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Synonyms: | NSIAD |
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. |
Ontology: | Human Disease [DOID:0112121] ( DOID:0112121 ) |