OBO ID: DOID:0112121
Term Name: nephrogenic syndrome of inappropriate antidiuresis Search Ontology:
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:
OTHER nephrogenic syndrome of inappropriate antidiuresis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AVPR2 Nephrogenic syndrome of inappropriate antidiuresis 300539
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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