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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:Orthostatic Hypotension 2
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Accession:DOID:9009252 term browser browse the term
Definition:An autosomal recessive disorder characterized by severe orthostatic hypotension, recurrent hypoglycemia, and low norepinephrine levels. The disorder has onset in infancy or early childhood. The disorder results from a defect in the biosynthesis of norepinephrine from dopamine due to a cofactor deficiency.
Synonyms:exact_synonym: ORTHYP2
 primary_id: OMIM:618182
For additional species annotation, visit the Alliance of Genome Resources.


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Orthostatic Hypotension 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyb561 cytochrome b-561 ISO ClinVar Annotator: match by term: ORTHOSTATIC HYPOTENSION 2 ClinVar
OMIM
NCBI chr10:90,878,052...90,888,734
Ensembl chr10:90,878,054...90,884,787
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      cardiovascular system disease 4514
        vascular disease 3434
          Hypotension 146
            Orthostatic Hypotension 9
              Orthostatic Hypotension 2 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            disease of mental health 7038
              cognitive disorder 1948
                anxiety disorder 167
                  neurocirculatory asthenia 11
                    Orthostatic Intolerance 11
                      Orthostatic Hypotension 9
                        Orthostatic Hypotension 2 1
paths to the root