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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


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | ClinVar Annotator: match by term: PRG4-related condition 		OMIM
CTD
ClinVar		 PMID:10545950 PMID:25741868 PMID:29397575 PMID:31680123 PMID:32860008 NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119 		JBrowse link
G Tpr translocated promoter region, nuclear basket protein ISO ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome ClinVar PMID:25741868 PMID:29397575 NCBI chr13:62,424,312...62,487,502
Ensembl chr13:62,424,312...62,487,496 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital coxa vara, patella aplasia and tarsal synostosis | ClinVar Annotator: match by term: Coxopodopatellar syndrome | ClinVar Annotator: match by term: TBX4-related condition 		OMIM
CTD
ClinVar		 PMID:11303519 PMID:15106123 PMID:16199547 PMID:23592887 PMID:24033266 More... NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      musculoskeletal system disease 8469
        bone disease 4372
          Bone Malalignment 3
            Bone Anteversion + 3
            Bone Retroversion + 0
            Radial Heads, Posterior Dislocation Of 0
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      musculoskeletal system disease 8469
        connective tissue disease 5925
          bone disease 4372
            Bone Malalignment 3
              Bone Anteversion + 3
              Bone Retroversion + 0
              Radial Heads, Posterior Dislocation Of 0
paths to the root