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

• MESH:C564491
• OMIM:300539
• ORDO:93606
• SNOMEDCT_US_2023_03_01:723440000
• UMLS_CUI:C1845202

Ontology

Human Disease   ( DOID:0112121 )