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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:somatoform disorder
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Accession:DOID:4737 term browser browse the term
Definition:Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by another medical condition, by the direct effects of a substance, or by another mental disorder. The MEDICALLY UNEXPLAINED SYMPTOMS must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to FACTITIOUS DISORDERS and MALINGERING, the physical symptoms are not under voluntary control. (APA, DSM-V)
Synonyms:exact_synonym: Briquet syndrome;   Pain Disorder;   Psychophysiological Disorder;   Psychophysiological Disorders;   medically unexplained syndrome;   medically unexplained syndromes;   physiological malfunction arising from mental factor;   psychophysiologic disorder;   psychophysiologic disorders;   psychosomatic disorder;   psychosomatic disorders;   somatoform disorders
 primary_id: MESH:D011602;   MESH:D013001
 xref: ICD10CM:F45;   ICD9CM:300.8;   NCI:C34956
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
body dysmorphic disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calhm4 calcium homeostasis modulator family member 4 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:27,573,809...27,578,269
Ensembl chr20:27,575,533...27,578,244
JBrowse link
G Calhm5 calcium homeostasis modulator family member 5 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:27,651,817...27,673,817
Ensembl chr20:27,651,312...27,657,983
JBrowse link
G Calhm6 calcium homeostasis modulator family member 6 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:27,681,138...27,683,580
Ensembl chr20:27,681,036...27,682,861
JBrowse link
G Col10a1 collagen type X alpha 1 chain ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:41,180,295...41,190,664
Ensembl chr20:41,184,287...41,189,633
JBrowse link
G Dcbld1 discoidin, CUB and LCCL domain containing 1 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:33,359,062...33,455,161
Ensembl chr20:33,359,196...33,453,766
JBrowse link
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:27,703,738...27,784,982
Ensembl chr20:27,703,732...27,782,586
JBrowse link
G Frk fyn-related Src family tyrosine kinase ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:41,266,408...41,383,731
Ensembl chr20:41,266,566...41,383,424
JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:33,471,355...33,521,281
Ensembl chr20:33,471,351...33,521,311
JBrowse link
G Gprc6a G protein-coupled receptor, class C, group 6, member A ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:32,607,653...32,628,953
Ensembl chr20:32,607,653...32,628,953
JBrowse link
G Hdac2 histone deacetylase 2 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
JBrowse link
G Hs3st5 heparan sulfate-glucosamine 3-sulfotransferase 5 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:40,236,437...40,545,502
Ensembl chr20:40,236,437...40,545,494
JBrowse link
G Kpna5 karyopherin subunit alpha 5 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:32,509,573...32,573,591
Ensembl chr20:32,509,598...32,572,250
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G Marcks myristoylated alanine rich protein kinase C substrate ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:42,966,140...42,971,838
Ensembl chr20:42,966,140...42,971,838
JBrowse link
G Nt5dc1 5'-nucleotidase domain containing 1 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:41,106,990...41,209,765
Ensembl chr20:41,106,991...41,209,728
JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:33,557,052...33,584,011
Ensembl chr20:33,557,052...33,584,010
JBrowse link
G Rfpl4b ret finger protein-like 4B ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:43,929,386...43,955,762 JBrowse link
G Rfx6 regulatory factor X, 6 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:32,709,282...32,764,040
Ensembl chr20:32,717,564...32,764,035
JBrowse link
G Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:33,100,190...33,323,544
Ensembl chr20:33,100,191...33,323,367
JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:32,450,701...32,467,362
Ensembl chr20:32,450,733...32,467,194
Ensembl chr20:32,450,733...32,467,194
JBrowse link
G Rwdd1 RWD domain containing 1 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:27,534,361...27,552,225
Ensembl chr20:27,535,324...27,552,349
JBrowse link
G Trappc3l trafficking protein particle complex 3-like ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:27,578,268...27,664,689
Ensembl chr20:27,592,379...27,664,595
JBrowse link
G Tspyl1 TSPY-like 1 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:41,083,317...41,085,876
Ensembl chr20:41,083,317...41,085,875
JBrowse link
G Tspyl4 TSPY-like 4 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:41,100,071...41,102,067
Ensembl chr20:41,100,071...41,102,056
JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:25741868 NCBI chr  X:10,510,033...10,660,555
Ensembl chr  X:10,510,033...10,630,297
JBrowse link
G Vgll2 vestigial-like family member 2 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:33,077,106...33,082,962
Ensembl chr20:33,077,106...33,082,962
JBrowse link
G Zup1 zinc finger containing ubiquitin peptidase 1 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:32,471,670...32,501,693
Ensembl chr20:32,471,672...32,501,722
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
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 RGD PMID:10684912 RGD:1624278 NCBI chr19:15,391,682...15,431,274
Ensembl chr19:15,391,581...15,431,274
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
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
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 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        Neurologic Manifestations 4189
          somatoform disorder 38
            Neurasthenia 0
            body dysmorphic disorder 27
            conversion disorder 0
            hypochondriasis 0
            neurocirculatory asthenia + 11
            pain disorder 0
            somatization disorder 0
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              somatoform disorder 38
                Neurasthenia 0
                body dysmorphic disorder 27
                conversion disorder 0
                hypochondriasis 0
                neurocirculatory asthenia + 11
                pain disorder 0
                somatization disorder 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.