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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:postural orthostatic tachycardia syndrome
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Accession:DOID:0111154 term browser browse the term
Definition:A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2. (DO)
Synonyms:exact_synonym: POTS;   chronic orthostatic intolerance;   familial orthostatic tachycardia due to norepinephrine transporter deficiency;   irritable heart;   orhtostatic intolerance;   orthostatic intolerance;   orthostatic intolerance due to NET deficiency;   postural tachycardia syndrome;   postural tachycardia syndrome due to NET deficiency;   soldiers heart
 primary_id: MESH:D054972
 xref: GARD:9597;   ICD10CM:I95.1;   ORDO:443236
For additional species annotation, visit the Alliance of Genome Resources.


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postural orthostatic tachycardia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a2 solute carrier family 6 member 2 ISS OMIM:604715 MouseDO NCBI chr19:15,391,682...15,431,274
Ensembl chr19:15,391,581...15,431,274
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      postural orthostatic tachycardia syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              cognitive disorder 1914
                anxiety disorder 162
                  neurocirculatory asthenia 11
                    Orthostatic Intolerance 11
                      postural orthostatic tachycardia syndrome 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.