Term Name: | X-linked nephrogenic diabetes insipidus |
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Synonyms: | nephrogenic diabetes insipidus type 1 |
Definition: | A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28. |
Ontology: | Human Disease [DOID:0081060] ( DOID:0081060 ) |