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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:nephrogenic diabetes insipidus type 2
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Accession:DOID:0081061 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Diabetes Insipidus, Nephrogenic, Autosomal;   NDI2;   Nephrogenic Diabetes Insipidus 2;   Nephrogenic Diabetes Insipidus, Type II;   autosomal nephrogenic diabetes insipidus-2
 primary_id: OMIM:125800
 alt_id: DOID:9005273


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        urinary system disease 2830
          kidney disease 2586
            nephrogenic diabetes insipidus 13
              nephrogenic diabetes insipidus type 2 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            hypothalamic disease 505
              pituitary gland disease 275
                diabetes insipidus 28
                  nephrogenic diabetes insipidus 13
                    nephrogenic diabetes insipidus type 2 1
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