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Human Disease

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
Ontology
Human Disease   ( DOID:0081061 )
Relationships
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Genes Involved
Zebrafish Models