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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 AVPR2 on chromosome Xq28. (DO)
Synonyms:exact_synonym: NSIAD
 primary_id: MESH:C564491
 alt_id: OMIM:300539
 xref: ORDO:93606
For additional species annotation, visit the Alliance of Genome Resources.


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nephrogenic syndrome of inappropriate antidiuresis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by OMIM:300539
ClinVar Annotator: match by term: Nephrogenic syndrome of inappropriate antidiuresis
OMIM
ClinVar
PMID:25741868 NCBI chr  X:156,889,006...156,892,707
Ensembl chr  X:156,889,410...156,891,213
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    syndrome 8015
      inappropriate ADH syndrome 2
        nephrogenic syndrome of inappropriate antidiuresis 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            thalamic disease 226
              hypothalamic disease 226
                pituitary gland disease 171
                  inappropriate ADH syndrome 2
                    nephrogenic syndrome of inappropriate antidiuresis 1
paths to the root