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Metadata
ID DOID:0081061
Name nephrogenic diabetes insipidus type 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
Xrefs

MIM:125800

Synonyms

autosomal nephrogenic diabetes insipidus-2 [EXACT]

Parent Relationships

is_a nephrogenic diabetes insipidus

is_a autosomal recessive disease

is_a autosomal dominant disease

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