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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
 xref: EFO:1000645


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 ISO ClinVar Annotator: match by term: SLC6A2-related disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11458707 NCBI chr19:14,010,292...14,055,317
Ensembl chr19:14,010,386...14,050,357 		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
ISS		 ClinVar Annotator: match by term: Orthostatic hypotension 1
CTD Direct Evidence: marker/mechanism
OMIM:223360		 OMIM
ClinVar
CTD
MouseDO		 PMID:7715704 PMID:9536098 PMID:11170900 PMID:11857564 PMID:14598346 More... NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:21209083 RGD:5685690 NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891 		JBrowse link
Orthostatic Hypotension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12082591 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Orthostatic hypotension ClinVar NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Gnas GNAS complex locus susceptibility ISO DNA:SNP: : 393T>C(human) RGD PMID:11910300 RGD:1580406 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Gnb3 G protein subunit beta 3 susceptibility ISO DNA:SNP: : 825C>T (human) RGD PMID:11910300 RGD:1580406 NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173 		JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO RGD PMID:10449650 RGD:1581056 NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942 		JBrowse link
G Oprd1 opioid receptor, delta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2981652 NCBI chr 5:144,306,188...144,340,960
Ensembl chr 5:144,306,188...144,340,960 		JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2981652 NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409 		JBrowse link
Orthostatic Hypotension 2 term browser
Symbol Object Name Qualifiers 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 		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 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          Orthostatic Intolerance 12
            Irritable Heart 0
            Orthostatic Hypotension + 10
            Post-Exercise Hypotension 0
            Vasovagal Syncope + 1
            postural orthostatic tachycardia syndrome 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              cognitive disorder 2300
                anxiety disorder 180
                  neurocirculatory asthenia 12
                    Orthostatic Intolerance 12
                      Irritable Heart 0
                      Orthostatic Hypotension + 10
                      Post-Exercise Hypotension 0
                      Vasovagal Syncope + 1
                      postural orthostatic tachycardia syndrome 0
paths to the root