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| Term | nephrogenic syndrome of inappropriate antidiuresis | ID (Ontology) | DOID:0112121 (Human Disease) |
| 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. | ||
| Also Known As | "NSIAD" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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X-linked monogenic disease |__X-linked recessive disease_______ kidney disease | |__renal tubular transport disease__| nephrogenic syndrome of inappropriate antidiuresis |
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| Is a |
X-linked recessive disease renal tubular transport disease |
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External Crossreferences & Linkouts
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MESH:C564491 MIM:300539 ORDO:93606 SNOMEDCT_US_2023_03_01:723440000 UMLS_CUI:C1845202 |
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