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
Accession: DOID:4737
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: EFO:0009687 ; ICD10CM:F45 ; ICD9CM:300.8 ; NCI:C34956
For additional species annotation, visit the
Alliance of Genome Resources .
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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
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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
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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
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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
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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
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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
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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
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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...31,776,904
Ensembl chr20:31,727,620...31,776,903
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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
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Hdac2
histone deacetylase 2
ISO
ClinVar Annotator: match by term: Dysmorphic features
ClinVar
PMID:24824130
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
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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
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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
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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
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Lmbrd2
LMBR1 domain containing 2
ISO
ClinVar Annotator: match by term: Dysmorphic features
ClinVar
PMID:25741868 PMID:32820033
NCBI chr 2:58,189,558...58,251,565
Ensembl chr 2:58,189,558...58,247,076
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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
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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
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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
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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
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Rfx6
regulatory factor X, 6
ISO
ClinVar Annotator: match by term: Dysmorphic features
ClinVar
PMID:24824130
NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Dbh
dopamine beta-hydroxylase
ISO ISS
ClinVar Annotator: match by term: Orthostatic hypotension 1 CTD Direct Evidence: marker/mechanism OMIM:223360
OMIM ClinVar CTD MouseDO
PMID:7715704 PMID:9536098 PMID:11170900 PMID:11857564 PMID:14598346 PMID:15060114 PMID:17576681 PMID:20186791 PMID:21209083 PMID:21471955 PMID:22028891 PMID:23622564 PMID:24033266 PMID:25450229 PMID:25741868 PMID:26762739 PMID:27778639 PMID:28492532 More...
NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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