Nephrogenic Diabetes Insipidus Type 2
Disease ID: disease_node_19685
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:125800 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050737, DOID_12387 |
| Data Source | DOID |
| Synonyms | autosomal nephrogenic diabetes insipidus-2 |
| Doid Label | nephrogenic diabetes insipidus type 2 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147, GENO_0000148 |
| Disease Node Id | disease_node_19685 |
| Doid Id | DOID_0081061 |
| Label | Nephrogenic Diabetes Insipidus Type 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Diabetes Insipidus, Nephrogenic(ID:disease_node_9730) (Disease)