OBO ID: DOID:0090127
Term Name: camptodactyly-arthropathy-coxa vara-pericarditis syndrome Search Ontology:
Synonyms:
  • arthropathy-camptodactyly syndrome
  • CACP
  • CACP syndrome
  • camptodactyly-arthropathy-pericarditis syndrome
  • CAP syndrome
  • congenital familial hypertrophic synovitis
  • familial fibrosing serositis
  • Jacobs syndrome
  • PAC syndrome
  • pericarditis-arthropathy-camptodactyly syndrome
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. (2)
References:
Ontology: Human Disease   (DOID:0090127)
OTHER camptodactyly-arthropathy-coxa vara-pericarditis syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PRG4 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 208250
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None