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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:Bone Malalignment
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Accession:DOID:9001456 term browser browse the term
Definition:Displacement of bones out of line in relation to joints. It may be congenital or traumatic in origin.
Synonyms:exact_synonym: Bone Malalignments;   Bone Malposition;   Bone Malpositions;   Bone Misalignment;   Bone Misalignments
 primary_id: MESH:D017760;   RDO:0007079
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
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 OMIM:147891
ClinVar Annotator: match by term: Ischiopatellar dysplasia
ClinVar Annotator: match by term: Coxopodopatellar syndrome
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        bone disease 3534
          Bone Malalignment 3
            Bone Anteversion + 3
            Bone Retroversion + 0
            Radial Heads, Posterior Dislocation Of 0
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          bone disease 3534
            Bone Malalignment 3
              Bone Anteversion + 3
              Bone Retroversion + 0
              Radial Heads, Posterior Dislocation Of 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.