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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: EFO:0009028;   ORDO:2848


show annotations for term's descendants           Sort by:
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 IAGP
EXP		 ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10545950 PMID:25741868 PMID:29397575 PMID:32860008 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
G TPR translocated promoter region, nuclear basket protein IAGP ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome ClinVar PMID:25741868 PMID:29397575 NCBI chr 1:186,311,652...186,375,253
Ensembl chr 1:186,311,652...186,375,693 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35773
    syndrome 18145
      camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2
Path 2
Term Annotations click to browse term
  disease 35773
    disease of anatomical entity 32516
      Skin and Connective Tissue Diseases 9882
        connective tissue disease 7577
          bone disease 5734
            bone inflammation disease 1561
              arthropathy 1535
                synovitis 7
                  camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2
paths to the root