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DO Term : nephrogenic syndrome of inappropriate antidiuresis [DOID:0112121] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • OMIM:300539,
  • UMLS_CUI:C1845202,
  • ORDO:93606,
  • 300539,
  • NSIAD,
  • MESH:C564491,
  • SNOMEDCT_US_2023_03_01:723440000
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents