| 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 |
SNOMEDCT_US_2023_03_01:723440000 |
| Subsets |
DO_rare_slim |
| Synonyms |
NSIAD [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |