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nephrogenic syndrome of inappropriate antidiuresis
Summary
- Synonym
-
- 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.
- Super Class
- X-linked recessive disease renal tubular transport disease
External Links
- Disease Ontology
- DOID:0112121
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
Related Genes
