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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:camptodactyly-arthropathy-coxa vara-pericarditis syndrome
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Accession:DOID:0090127 term browser browse the term
Definition:A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31. (DO)
Synonyms:exact_synonym: CACP;   CACP syndrome;   CAP syndrome;   Jacobs syndrome;   PAC syndrome;   arthropathy camptodactyly syndrome;   camptodactyly arthropathy pericarditis syndrome;   congenital familial hypertrophic synovitis;   familial fibrosing serositis
 primary_id: MESH:C537560
 alt_id: OMIM:208250
 xref: ORDO:2848
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 OMIM:208250
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Camptodactyly arthropathy coxa vara pericarditis syndrome
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Congenital Limb Deformities 504
              Congenital Upper Extremity Deformities 88
                Congenital Hand Deformities 72
                  camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2
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.