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Human Disease

nephrogenic syndrome of inappropriate antidiuresis

Term ID
DOID:0112121
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. https://pubmed.ncbi.nlm.nih.gov/15872203/
References
Ontology
Human Disease   ( DOID:0112121 )
Relationships
is a type of
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Genes Involved
Zebrafish Models