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MIRAGE
X-linked nephrogenic diabetes insipidus
Summary
- Synonym
-
- nephrogenic diabetes insipidus type 1
- 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 a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28.
- Super Class
- X-linked recessive disease nephrogenic diabetes insipidus
External Links
- Disease Ontology
- DOID:0081060
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P30518 | Vasopressin V2 receptor |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O88721 | Vasopressin V2 receptor |
