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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:Torsion Abnormality
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Accession:DOID:9000314 term browser browse the term
Definition:An abnormal twisting or rotation of a bodily part or member on its axis.
Synonyms:exact_synonym: Torsion Abnormalities
 primary_id: MESH:D014102;   RDO:0006725
For additional species annotation, visit the Alliance of Genome Resources.


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camptodactyly-arthropathy-coxa vara-pericarditis syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
ClinVar Annotator: match by term: Camptodactyly arthropathy coxa vara pericarditis syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:208250
OMIM
ClinVar
CTD
PMID:10545950, PMID:25741868, PMID:29397575, PMID:32860008 NCBI chr13:67,672,588...67,688,902
Ensembl chr13:67,672,878...67,688,477
JBrowse link
G Tpr translocated promoter region, nuclear basket protein ISO ClinVar Annotator: match by term: Camptodactyly arthropathy coxa vara pericarditis syndrome ClinVar PMID:29397575 NCBI chr13:67,611,685...67,672,833
Ensembl chr13:67,611,708...67,672,827
JBrowse link
intestinal volvulus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Volvulus ClinVar PMID:30311386 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: Volvulus ClinVar PMID:30311386 NCBI chr  X:15,448,570...15,453,130
Ensembl chr  X:15,348,138...15,453,130
JBrowse link
ischiocoxopodopatellar syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Coxopodopatellar syndrome
ClinVar Annotator: match by term: Ischiopatellar dysplasia
ClinVar Annotator: match by OMIM:147891
OMIM
ClinVar
PMID:11303519, PMID:15106123, PMID:23592887, PMID:24033266, PMID:25741868, PMID:28492532, PMID:31151956, PMID:31761294, PMID:31965066, PMID:32581362, PMID:32860008 NCBI chr10:73,331,864...73,362,784
Ensembl chr10:73,333,119...73,362,783
JBrowse link
Volvulus Of Midgut term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO associated with Craniosynostoses;DNA:missense mutations:cds:p.C342R, p.S252W (human) RGD PMID:27481450 RGD:12801473 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Pathological Conditions, Signs and Symptoms 8754
      Anatomical Pathological Conditions 1536
        Torsion Abnormality 6
          Bilateral Medial Tibial Torsion 0
          Bone Anteversion + 3
          Bone Retroversion + 0
          Uterine Retroversion 0
          intestinal volvulus + 3
          torsion dystonia 13 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.