Disease

nephrogenic syndrome of inappropriate antidiuresis

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
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

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Associated Models