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 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 homozygous mutation in the PRG4 gene on chromosome 1q31. (DO)
Synonyms:exact_synonym: CACP;   CACP syndrome;   CAP syndrome;   Congenital familial hypertrophic synovitis;   Fibrosing serositis, familial;   Jacobs Syndrome;   PAC syndrome;   arthropathy camptodactyly syndrome;   camptodactyly arthropathy pericarditis syndrome
 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

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  disease 14875
    syndrome 4220
      camptodactyly-arthropathy-coxa vara-pericarditis syndrome 1
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Congenital Abnormalities 3150
          Musculoskeletal Abnormalities 1191
            Congenital Limb Deformities 343
              Upper Extremity Deformities, Congenital 76
                Congenital Hand Deformities 62
                  camptodactyly-arthropathy-coxa vara-pericarditis syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.