nephrogenic diabetes insipidus type 2

Summary

DOID:0081061 - nephrogenic diabetes insipidus type 2

Disease Ontology 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.

Synonyms: autosomal nephrogenic diabetes insipidus-2

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: aqp2

MIM:

MIM:125800 - DIABETES INSIPIDUS, NEPHROGENIC, 2, AUTOSOMAL; NDI2

MIM:125800 - DIABETES INSIPIDUS, NEPHROGENIC, 2, AUTOSOMAL; NDI2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), autosomal recessive disease (is_a), nephrogenic diabetes insipidus (is_a)