Term Name: nephrogenic diabetes insipidus type 2
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.
Ontology: Human Disease [DOID:0081061]   ( DOID:0081061 )

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