X-linked nephrogenic diabetes insipidus

Term ID

DOID:0081060

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. https://pubmed.ncbi.nlm.nih.gov/11181969/

References

• OMIM:304800

Ontology

Human Disease   ( DOID:0081060 )