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
Accession: DOID:0060163
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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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