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ONTOLOGY REPORT - ANNOTATIONS


Term:camptodactyly-arthropathy-coxa vara-pericarditis syndrome
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Accession:DOID:0090127 term browser browse the term
Definition:An autosomal recessive disease 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;   RDO:0003422
 xref: ORDO:2848
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camptodactyly-arthropathy-coxa vara-pericarditis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prg4 proteoglycan 4 JBrowse link 13 67,672,588 67,688,902 RGD:7240710
RGD:8554872
RGD:11554173
G Tpr translocated promoter region, nuclear basket protein JBrowse link 13 67,611,685 67,672,833 RGD:8554872

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  disease 15590
    syndrome 5131
      camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2
Path 2
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  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        Congenital Abnormalities 3574
          Musculoskeletal Abnormalities 1294
            Congenital Limb Deformities 409
              Upper Extremity Deformities, Congenital 80
                Congenital Hand Deformities 65
                  camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.