nephrogenic diabetes insipidus type 2 (DOID:0081061)
Alliance: disease page
Synonyms: autosomal nephrogenic diabetes insipidus-2
Alt IDs: OMIM:125800
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 heterozygous, homozygous, or compound heterozygous mutation in the gene encoding the aquaporin-2 water channel (AQP2), which maps to chromosome 12q13.