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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 Intolerance
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Accession:DOID:9004453 term browser browse the term
Definition:Symptoms of cerebral hypoperfusion or autonomic overaction which develop while the subject is standing, but are relieved on recumbency. Types of this include NEUROCARDIOGENIC SYNCOPE; POSTURAL ORTHOSTATIC TACHYCARDIA SYNDROME; and neurogenic ORTHOSTATIC HYPOTENSION. (From Noseworthy, JH., Neurological Therapeutics Principles and Practice, 2007, p2575-2576)
Synonyms:exact_synonym: MITRAL VALVE PROLAPSE SYNDROME
 broad_synonym: SLC6A2-related disorder
 primary_id: MESH:D054971
 alt_id: OMIM:604715;   RDO:0000179
For additional species annotation, visit the Alliance of Genome Resources.


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Orthostatic Intolerance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a2 solute carrier family 6 member 2 ISO OMIM NCBI chrNW_004936475:7,937,920...7,973,563 JBrowse link
dopamine beta-hydroxylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dbh dopamine beta-hydroxylase ISO OMIM NCBI chrNW_004936669:3,302,014...3,326,233 JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:21209083 RGD:5685690 NCBI chrNW_004936487:13,348,465...13,352,717 JBrowse link
Orthostatic Hypotension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1 ATP binding cassette subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12082591 NCBI chrNW_004936763:1,225,355...1,308,257 JBrowse link
G Gnas GNAS complex locus sussceptibility ISO DNA:SNP: : 393T>C(human) RGD PMID:11910300 RGD:1580406 NCBI chrNW_004936530:1,353,432...1,407,437 JBrowse link
G Gnb3 G protein subunit beta 3 susceptibility ISO DNA:SNP: : 825C>T (human) RGD PMID:11910300 RGD:1580406 NCBI chrNW_004936709:970,169...977,059 JBrowse link
G Oprd1 opioid receptor delta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2981652 NCBI chrNW_004936474:12,860,293...12,902,389 JBrowse link
G Oprm1 opioid receptor mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2981652 NCBI chrNW_004936489:6,506,207...6,567,136 JBrowse link
Orthostatic Hypotension 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101968635 cytochrome b561 ISO OMIM NCBI chrNW_004936541:4,123,187...4,130,819 JBrowse link
Vasovagal Syncope term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nppb natriuretic peptide B ISO associated with Syncope;protein:increased expression:serum: RGD PMID:23373852 RGD:7247623 NCBI chrNW_004936474:683,325...684,662 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11938
    disease of anatomical entity 11499
      nervous system disease 9416
        Neurologic Manifestations 3781
          Orthostatic Intolerance 10
            Irritable Heart 0
            Orthostatic Hypotension + 8
            Post-Exercise Hypotension 0
            Vasovagal Syncope + 1
            postural orthostatic tachycardia syndrome 0
Path 2
Term Annotations click to browse term
  disease 11938
    disease of anatomical entity 11499
      nervous system disease 9416
        central nervous system disease 7960
          brain disease 7362
            disease of mental health 5338
              cognitive disorder 1613
                anxiety disorder 91
                  neurocirculatory asthenia 10
                    Orthostatic Intolerance 10
                      Irritable Heart 0
                      Orthostatic Hypotension + 8
                      Post-Exercise Hypotension 0
                      Vasovagal Syncope + 1
                      postural orthostatic tachycardia syndrome 0
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.