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DO Term : nephrogenic diabetes insipidus type 2 [DOID:0081061] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • OMIM:125800,
  • autosomal nephrogenic diabetes insipidus-2,
  • 125800
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