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nephrogenic diabetes insipidus type 2
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease autosomal recessive disease nephrogenic diabetes insipidus
External Links
- Disease Ontology
- DOID:0081061
- Mondo Disease Ontology
- OMIM
