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Metadata
ID DOID:0081060
Name X-linked nephrogenic diabetes insipidus
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.
https://pubmed.ncbi.nlm.nih.gov/11181969/
Xrefs

MIM:304800

Synonyms

nephrogenic diabetes insipidus type 1 [EXACT]

Parent Relationships

is_a nephrogenic diabetes insipidus

is_a X-linked recessive disease

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