nephrogenic diabetes insipidus type 2

Term ID

DOID:0081061

Synonyms

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. https://medlineplus.gov/ency/article/000511.htm

References

MIM:125800

Ontology

Human Disease ( DOID:0081061 )

Relationships

is a type of: autosomal dominant disease autosomal recessive disease nephrogenic diabetes insipidus

autosomal dominant disease autosomal recessive disease nephrogenic diabetes insipidus Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models