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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:inappropriate ADH syndrome
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Accession:DOID:3401 term browser browse the term
Definition:A condition of HYPONATREMIA and renal salt loss attributed to overexpansion of BODY FLUIDS resulting from sustained release of ANTIDIURETIC HORMONES which stimulates renal resorption of water. It is characterized by normal KIDNEY function, high urine OSMOLALITY, low serum osmolality, and neurological dysfunction. Etiologies include ADH-producing neoplasms, injuries or diseases involving the HYPOTHALAMUS, the PITUITARY GLAND, and the LUNG. This syndrome can also be drug-induced.
Synonyms:exact_synonym: Antidiuretic Hormone, Inappropriate Secretion;   Inappropriate Vasopressin Secretion Syndrome;   SIADH;   Schwartz Bartter Syndrome;   Syndrome of Inappropriate ADH (SIADH) Secretion;   syndrome of Inappropriate Antidiuretic Hormone Secretion;   syndrome of inappropriate secretion of ADH;   syndrome of inappropriate secretion of antidiuretic hormone;   syndrome of inappropriate vasopressin secretion
 primary_id: MESH:D007177;   RDO:0005883
 xref: ICD10CM:E22.2;   NCI:C3988
For additional species annotation, visit the Alliance of Genome Resources.


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inappropriate ADH syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avp arginine vasopressin ISO CTD Direct Evidence: marker/mechanism CTD PMID:112579, PMID:6920297 NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
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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 16103
    syndrome 6989
      inappropriate ADH syndrome 2
        Nephrogenic Syndrome of Inappropriate Antidiuresis 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            thalamic disease 192
              hypothalamic disease 192
                pituitary gland disease 147
                  inappropriate ADH syndrome 2
                    Nephrogenic Syndrome of Inappropriate Antidiuresis 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.