Metadata | |
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ID | DOID:0081061 |
Name | nephrogenic diabetes insipidus type 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. https://medlineplus.gov/ency/article/000511.htm |
Xrefs | |
Synonyms |
autosomal nephrogenic diabetes insipidus-2 [EXACT] |
Parent Relationships |
is_a nephrogenic diabetes insipidus |