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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 syndrome of inappropriate antidiuresis
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Accession:DOID:0112121 term browser browse the term
Definition:A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in the AVPR2 gene on chromosome Xq28. (DO)
Synonyms:exact_synonym: NSIAD
 broad_synonym: AVPR2-RELATED CONDITION
 primary_id: MESH:C564491
 alt_id: OMIM:300539
 xref: ORDO:93606

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Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9327
      inappropriate ADH syndrome 1
        nephrogenic syndrome of inappropriate antidiuresis 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            hypothalamic disease 447
              pituitary gland disease 227
                inappropriate ADH syndrome 1
                  nephrogenic syndrome of inappropriate antidiuresis 1
paths to the root