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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:A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate. (DO)
Synonyms:exact_synonym: Briquet syndrome;   medically unexplained syndrome;   medically unexplained syndromes;   physiological malfunction arising from mental factor;   psychophysiologic disorder;   psychophysiologic disorders;   psychophysiological disorder;   psychophysiological disorders;   psychosomatic disorder;   psychosomatic disorders;   somatoform disorders
 primary_id: MESH:D013001
 alt_id: MESH:D011602
 xref: ICD10CM:F45;   ICD9CM:300.8;   NCI:C34956
For additional species annotation, visit the Alliance of Genome Resources.

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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 Lmbrd2 LMBR1 domain containing 2 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:32820033 NCBI chr 2:58,534,474...58,590,767
Ensembl chr 2:58,534,476...58,590,758 		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 subunit 3L 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 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        Neurologic Manifestations 5298
          somatoform disorder 39
            Neurasthenia 0
            body dysmorphic disorder 28
            conversion disorder 0
            hypochondriasis 0
            neurocirculatory asthenia + 11
            pain disorder 0
            somatization disorder 0
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
              somatoform disorder 39
                Neurasthenia 0
                body dysmorphic disorder 28
                conversion disorder 0
                hypochondriasis 0
                neurocirculatory asthenia + 11
                pain disorder 0
                somatization disorder 0
paths to the root