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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 ISO ClinVar Annotator: match by OMIM:604715
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10684912 PMID:11458707 PMID:11875370 NCBI chr19:15,391,682...15,431,274
Ensembl chr19:15,391,581...15,431,274 		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 ClinVar Annotator: match by term: Orthostatic hypotension 1
ClinVar Annotator: match by term: Dopamine beta hydroxylase deficiency
ClinVar Annotator: match by OMIM:223360		 OMIM
ClinVar		 PMID:11857564 PMID:14598346 PMID:15060114 PMID:21209083 PMID:21471955 PMID:22028891 PMID:24033266 PMID:25450229 PMID:25741868 PMID:26762739 PMID:27778639 PMID:28492532 NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:21209083 RGD:5685690 NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762 		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 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515 		JBrowse link
G Gnas GNAS complex locus sussceptibility ISO DNA:SNP: : 393T>C(human) RGD PMID:11910300 RGD:1580406 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483 		JBrowse link
G Gnb3 G protein subunit beta 3 susceptibility ISO DNA:SNP: : 825C>T (human) RGD PMID:11910300 RGD:1580406 NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262 		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
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 5:150,288,126...150,323,063
Ensembl chr 5:150,288,126...150,323,063 		JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2981652 NCBI chr 1:43,454,803...43,704,948
Ensembl chr 1:43,454,803...43,704,948 		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 chr10:94,136,993...94,147,567
Ensembl chr10:94,136,993...94,147,621 		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 ISS OMIM:604715 MouseDO NCBI chr19:15,391,682...15,431,274
Ensembl chr19:15,391,581...15,431,274 		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 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Pathological Conditions, Signs and Symptoms 9887
      Signs and Symptoms 6345
        Neurologic Manifestations 5298
          Orthostatic Intolerance 11
            Irritable Heart 0
            Orthostatic Hypotension + 9
            Post-Exercise Hypotension 0
            Vasovagal Syncope + 1
            postural orthostatic tachycardia syndrome 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          brain disease 9570
            disease of mental health 6930
              cognitive disorder 1941
                anxiety disorder 164
                  neurocirculatory asthenia 11
                    Orthostatic Intolerance 11
                      Irritable Heart 0
                      Orthostatic Hypotension + 9
                      Post-Exercise Hypotension 0
                      Vasovagal Syncope + 1
                      postural orthostatic tachycardia syndrome 1
paths to the root