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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:neurocirculatory asthenia
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Accession:DOID:11569 term browser browse the term
Definition:A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormalities. (DO)
Synonyms:exact_synonym: Da Costa's syndrome;   Effort Syndrome;   Krishaber's disease;   cardiac neuroses;   cardiac neurosis;   cardiovascular malfunction arising from mental factors;   cardiovascular neurosis;   hyperkinetic heart syndrome;   neurocirculatory asthenias
 primary_id: MESH:D009449
 xref: ICD9CM:306.2
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
neurocirculatory asthenia 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 orthostatic intolerance,OMIM:604715;DNA:point mutation:exon:A457P
ClinVar Annotator: match by term: Neurocirculatory asthenia		 ClinVar
RGD		 PMID:10684912 PMID:11875370 PMID:10684912 RGD:1624278 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		 OMIM:223360
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Orthostatic hypotension 1		 OMIM
MouseDO
CTD
ClinVar		 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
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
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
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 21118
    disease of anatomical entity 18162
      nervous system disease 14001
        Neurologic Manifestations 9982
          somatoform disorder 40
            neurocirculatory asthenia 12
              Orthostatic Intolerance + 12
Path 2
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      nervous system disease 14001
        central nervous system disease 12351
          brain disease 11585
            disease of mental health 8248
              cognitive disorder 2281
                anxiety disorder 174
                  neurocirculatory asthenia 12
                    Orthostatic Intolerance + 12
paths to the root