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Metadata
ID DOID:0112121
Name 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.
https://pubmed.ncbi.nlm.nih.gov/15872203/
Xrefs

MESH:C564491

OMIM:300539

ORDO:93606

SNOMEDCT_US_2023_03_01:723440000

UMLS_CUI:C1845202

Subsets

DO_rare_slim

Synonyms

NSIAD [EXACT]

Parent Relationships

is_a renal tubular transport disease

is_a X-linked recessive disease

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