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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 chr 2:60,319,304...60,362,532
Ensembl chr 2:60,318,999...60,363,120
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 chr 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:21209083 RGD:5685690 NCBI chr 9:57,850,870...57,855,607
Ensembl chr 9:57,850,922...57,855,257
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 chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727
JBrowse link
G GNAS GNAS complex locus sussceptibility ISO DNA:SNP: : 393T>C(human) RGD PMID:11910300 RGD:1580406 NCBI chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657
JBrowse link
G GNB3 G protein subunit beta 3 susceptibility ISO DNA:SNP: : 825C>T (human) RGD PMID:11910300 RGD:1580406 NCBI chr27:38,175,928...38,182,473
Ensembl chr27:38,175,931...38,181,763
JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO RGD PMID:10449650 RGD:1581056 NCBI chr MT:3,914...4,955
Ensembl chr MT:3,914...4,957
JBrowse link
G OPRD1 opioid receptor delta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2981652 NCBI chr 2:71,685,129...71,721,692
Ensembl chr 2:71,689,084...71,721,875
JBrowse link
G OPRM1 opioid receptor mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2981652 NCBI chr 1:43,972,915...44,037,477
Ensembl chr 1:43,972,219...44,141,238
JBrowse link
Orthostatic Hypotension 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYB561 cytochrome b561 ISO OMIM NCBI chr 9:11,461,738...11,474,413
Ensembl chr 9:11,463,585...11,468,282
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 chr 2:84,395,844...84,397,473 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13845
    Pathological Conditions, Signs and Symptoms 9069
      Signs and Symptoms 5830
        Neurologic Manifestations 5235
          Orthostatic Intolerance 11
            Irritable Heart 0
            Orthostatic Hypotension + 9
            Post-Exercise Hypotension 0
            Vasovagal Syncope + 1
            postural orthostatic tachycardia syndrome 0
Path 2
Term Annotations click to browse term
  disease 13845
    disease of anatomical entity 13504
      nervous system disease 11195
        central nervous system disease 9794
          brain disease 9203
            disease of mental health 6767
              cognitive disorder 1766
                anxiety disorder 103
                  neurocirculatory asthenia 11
                    Orthostatic Intolerance 11
                      Irritable Heart 0
                      Orthostatic Hypotension + 9
                      Post-Exercise Hypotension 0
                      Vasovagal Syncope + 1
                      postural orthostatic tachycardia syndrome 0
paths to the root