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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.



show annotations for term's descendants           Sort by:
 
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 IAGP
EXP
ClinVar Annotator: match by term: Orthostatic intolerance
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SLC6A2-related disorder
ClinVar
CTD
OMIM
PMID:10684912 PMID:11458707 PMID:11875370 NCBI chr16:55,655,928...55,706,192
Ensembl chr16:55,655,988...55,707,645
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 IAGP ClinVar Annotator: match by term: Dopamine beta hydroxylase deficiency
ClinVar Annotator: match by term: Orthostatic hypotension 1
ClinVar
OMIM
PMID:11857564 PMID:14598346 PMID:15060114 PMID:16199547 PMID:21209083 More... NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329
JBrowse link
G DBH-AS1 DBH antisense RNA 1 IAGP ClinVar Annotator: match by term: Dopamine beta hydroxylase deficiency
ClinVar Annotator: match by term: Orthostatic hypotension 1
ClinVar PMID:22028891 PMID:25450229 PMID:25741868 PMID:28492532 NCBI chr 9:133,654,587...133,657,408
Ensembl chr 9:133,654,586...133,657,313
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 IAGP RGD PMID:21209083 RGD:5685690 NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12082591 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
JBrowse link
G GNAS GNAS complex locus sussceptibility IAGP DNA:SNP: : 393T>C(human) RGD PMID:11910300 RGD:1580406 NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GNB3 G protein subunit beta 3 susceptibility IAGP DNA:SNP: : 825C>T (human) RGD PMID:11910300 RGD:1580406 NCBI chr12:6,840,922...6,847,393
Ensembl chr12:6,839,954...6,847,393
JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP RGD PMID:10449650 RGD:1581056 NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511
JBrowse link
G OPRD1 opioid receptor delta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:2981652 NCBI chr 1:28,812,170...28,871,267
Ensembl chr 1:28,812,142...28,871,267
JBrowse link
G OPRM1 opioid receptor mu 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:2981652 NCBI chr 6:154,010,496...154,246,867
Ensembl chr 6:154,010,496...154,246,867
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 IAGP ClinVar Annotator: match by term: ORTHOSTATIC HYPOTENSION 2 ClinVar
OMIM
NCBI chr17:63,432,304...63,446,639
Ensembl chr17:63,432,304...63,446,354
JBrowse link
postural orthostatic tachycardia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC6A2 solute carrier family 6 member 2 IEA OMIM:604715 MouseDO NCBI chr16:55,655,928...55,706,192
Ensembl chr16:55,655,988...55,707,645
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 IEP associated with Syncope;protein:increased expression:serum: RGD PMID:23373852 RGD:7247623 NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20286
    Pathological Conditions, Signs and Symptoms 11457
      Signs and Symptoms 7483
        Neurologic Manifestations 6329
          Orthostatic Intolerance 12
            Irritable Heart 0
            Orthostatic Hypotension + 10
            Post-Exercise Hypotension 0
            Vasovagal Syncope + 1
            postural orthostatic tachycardia syndrome 1
Path 2
Term Annotations click to browse term
  disease 20286
    disease of anatomical entity 18890
      nervous system disease 14866
        central nervous system disease 13035
          brain disease 12253
            disease of mental health 9369
              cognitive disorder 2744
                anxiety disorder 108
                  neurocirculatory asthenia 12
                    Orthostatic Intolerance 12
                      Irritable Heart 0
                      Orthostatic Hypotension + 10
                      Post-Exercise Hypotension 0
                      Vasovagal Syncope + 1
                      postural orthostatic tachycardia syndrome 1
paths to the root