| Metadata | |
|---|---|
| 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 |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |