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Disease Ontology Browser
nephrogenic syndrome of inappropriate antidiuresis (DOID:0112121)
Alliance: disease page
Synonyms: NSIAD
Alt IDs: OMIM:300539, MESH:C564491, ORDO:93606, UMLS_CUI:C1845202
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory