Search Ontology:
Human Disease
nephrogenic syndrome of inappropriate antidiuresis
- Term ID
- DOID:0112121
- Synonyms
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- 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
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- MESH:C564491
- MIM:300539
- ORDO:93606
- SNOMEDCT_US_2023_03_01:723440000
- UMLS_CUI:C1845202
- Ontology
- Human Disease ( DOID:0112121 )
- is a type of
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Genes Involved
Zebrafish Models