Term Name: | nephrogenic diabetes insipidus type 2 |
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Synonyms: | autosomal nephrogenic diabetes insipidus-2 |
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. |
Ontology: | Human Disease [DOID:0081061] ( DOID:0081061 ) |