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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:body dysmorphic disorder
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Accession:DOID:0060163 term browser browse the term
Definition:A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image). (DO)
Synonyms:exact_synonym: Body Image Disfunction;   Body Image Disfunctions;   body dysmorphia;   body dysmorphic disorders;   body image disorder;   body image disorders;   dysmorphic syndrome;   dysmorphophobia
 related_synonym: dysmorphic features
 primary_id: MESH:D057215



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body dysmorphic disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALHM4 calcium homeostasis modulator family member 4 IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:116,529,043...116,561,127
Ensembl chr 6:116,529,013...116,561,127
JBrowse link
G CALHM5 calcium homeostasis modulator family member 5 IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:116,511,639...116,524,788
Ensembl chr 6:116,511,639...116,524,788
JBrowse link
G CALHM6 calcium homeostasis modulator family member 6 IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:116,461,375...116,463,771
Ensembl chr 6:116,461,370...116,463,771
JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747
JBrowse link
G DCBLD1 discoidin, CUB and LCCL domain containing 1 IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:117,482,674...117,569,858
Ensembl chr 6:117,453,817...117,569,858
JBrowse link
G DSE dermatan sulfate epimerase IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
JBrowse link
G FAM162B family with sequence similarity 162 member B IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:116,752,197...116,765,719
Ensembl chr 6:116,752,197...116,765,719
JBrowse link
G FRK fyn related Src family tyrosine kinase IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:115,931,149...116,100,725
Ensembl chr 6:115,931,149...116,060,891
JBrowse link
G GOPC golgi associated PDZ and coiled-coil motif containing IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:117,560,269...117,602,511
Ensembl chr 6:117,560,269...117,602,542
JBrowse link
G GPRC6A G protein-coupled receptor class C group 6 member A IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:116,792,085...116,829,240
Ensembl chr 6:116,792,085...116,829,083
JBrowse link
G HDAC2 histone deacetylase 2 IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308
JBrowse link
G HS3ST5 heparan sulfate-glucosamine 3-sulfotransferase 5 IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:114,055,596...114,343,023
Ensembl chr 6:114,055,596...114,343,023
JBrowse link
G KPNA5 karyopherin subunit alpha 5 IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:116,681,211...116,741,867
Ensembl chr 6:116,681,187...116,741,867
JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:112,107,931...112,254,985
Ensembl chr 6:112,107,931...112,254,939
JBrowse link
G LMBRD2 LMBR1 domain containing 2 IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:25741868 PMID:32820033 NCBI chr 5:36,098,407...36,151,887
Ensembl chr 5:36,098,407...36,151,887
JBrowse link
G MARCKS myristoylated alanine rich protein kinase C substrate IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:113,857,345...113,863,475
Ensembl chr 6:113,857,345...113,863,475
JBrowse link
G NT5DC1 5'-nucleotidase domain containing 1 IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:116,100,853...116,249,497
Ensembl chr 6:116,100,851...116,249,497
JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727
JBrowse link
G RFPL4B ret finger protein like 4B IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:112,347,330...112,351,294
Ensembl chr 6:112,347,330...112,351,294
JBrowse link
G RFX6 regulatory factor X6 IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:116,877,242...116,932,161
Ensembl chr 6:116,877,212...116,932,161
JBrowse link
G ROS1 ROS proto-oncogene 1, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:117,287,353...117,425,942
Ensembl chr 6:117,287,353...117,425,942
JBrowse link
G RSPH4A radial spoke head component 4A IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985
JBrowse link
G RWDD1 RWD domain containing 1 IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:116,571,504...116,597,675
Ensembl chr 6:116,571,409...116,597,675
JBrowse link
G TRAPPC3L trafficking protein particle complex subunit 3L IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:116,494,989...116,545,684
Ensembl chr 6:116,494,989...116,545,684
JBrowse link
G TSPYL1 TSPY like 1 IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:116,274,858...116,279,930
Ensembl chr 6:116,267,760...116,279,930
JBrowse link
G TSPYL4 TSPY like 4 IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:116,249,964...116,254,075
Ensembl chr 6:116,249,964...116,254,075
JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:25741868 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579
JBrowse link
G VGLL2 vestigial like family member 2 IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:117,265,558...117,273,630
Ensembl chr 6:117,265,558...117,273,565
JBrowse link
G ZUP1 zinc finger containing ubiquitin peptidase 1 IAGP ClinVar Annotator: match by term: Dysmorphic features ClinVar PMID:24824130 NCBI chr 6:116,635,618...116,668,766
Ensembl chr 6:116,635,618...116,668,794
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      nervous system disease 25939
        Neurologic Manifestations 15118
          somatoform disorder 44
            body dysmorphic disorder 29
Path 2
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      nervous system disease 25939
        central nervous system disease 23176
          brain disease 21615
            disease of mental health 16947
              somatoform disorder 44
                body dysmorphic disorder 29
paths to the root