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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 chr20:25,990,164...25,993,173
Ensembl chr20:25,990,462...25,993,173 		JBrowse link
G Calhm5 calcium homeostasis modulator family member 5 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:26,066,270...26,072,348
Ensembl chr20:26,066,242...26,072,272 		JBrowse link
G Calhm6 calcium homeostasis modulator family member 6 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:26,095,591...26,097,336
Ensembl chr20:26,095,592...26,097,278 		JBrowse link
G Col10a1 collagen type X alpha 1 chain ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:38,183,103...38,189,488
Ensembl chr20:38,182,494...38,189,494 		JBrowse link
G Dcbld1 discoidin, CUB and LCCL domain containing 1 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:31,618,556...31,711,697
Ensembl chr20:31,618,542...31,711,692 		JBrowse link
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992 		JBrowse link
G Frk fyn-related Src family tyrosine kinase ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:38,265,416...38,371,038
Ensembl chr20:38,265,280...38,371,114 		JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:31,727,617...31,776,928
Ensembl chr20:31,727,620...31,776,903 		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 chr20:30,922,106...30,943,412
Ensembl chr20:30,922,106...30,943,412 		JBrowse link
G Hdac2 histone deacetylase 2 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609 		JBrowse link
G Hs3st5 heparan sulfate-glucosamine 3-sulfotransferase 5 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:40,106,876...40,417,661
Ensembl chr20:40,106,876...40,417,653 		JBrowse link
G Kpna5 karyopherin subunit alpha 5 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:30,822,925...30,888,080
Ensembl chr20:30,822,935...30,888,078 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347 		JBrowse link
G Lmbrd2 LMBR1 domain containing 2 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:32820033 NCBI chr 2:58,189,558...58,251,565
Ensembl chr 2:58,189,558...58,247,076 		JBrowse link
G Marcks myristoylated alanine rich protein kinase C substrate ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:40,685,315...40,691,012
Ensembl chr20:40,685,315...40,691,012 		JBrowse link
G Nt5dc1 5'-nucleotidase domain containing 1 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:38,105,677...38,208,613
Ensembl chr20:38,105,678...38,208,591 		JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561 		JBrowse link
G Rfpl4b ret finger protein-like 4B ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:42,257,260...42,258,155 JBrowse link
G Rfx6 regulatory factor X, 6 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:31,020,221...31,073,266
Ensembl chr20:31,019,829...31,073,147 		JBrowse link
G Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:31,432,636...31,583,998
Ensembl chr20:31,432,637...31,583,865 		JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574 		JBrowse link
G Rwdd1 RWD domain containing 1 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:25,949,723...25,967,147
Ensembl chr20:25,941,966...25,967,193 		JBrowse link
G Trappc3l trafficking protein particle complex subunit 3L ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:25,992,835...26,084,938
Ensembl chr20:25,967,502...26,078,989 		JBrowse link
G Tspyl1 TSPY-like 1 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:38,082,003...38,084,562
Ensembl chr20:38,081,951...38,084,554
Ensembl chr20:38,081,951...38,084,554 		JBrowse link
G Tspyl4 TSPY-like 4 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:38,098,756...38,100,752
Ensembl chr20:38,098,677...38,103,053 		JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:25741868 NCBI chr  X:9,588,825...9,726,993
Ensembl chr  X:9,588,825...9,696,711 		JBrowse link
G Vgll2 vestigial-like family member 2 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:31,409,529...31,415,408
Ensembl chr20:31,409,552...31,415,408 		JBrowse link
G Zup1 zinc finger containing ubiquitin peptidase 1 ISO ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr20:30,785,226...30,815,377
Ensembl chr20:30,785,227...30,815,306 		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: Dopamine beta-hydroxylase deficiency OMIM
ClinVar		 PMID:9536098 PMID:11170900 PMID:11857564 PMID:14598346 PMID:15060114 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
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
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 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
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 chr19:14,010,292...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 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        Neurologic Manifestations 6220
          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 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        central nervous system disease 11274
          brain disease 10560
            disease of mental health 7489
              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