Search Ontology:
Human Disease

camptodactyly-arthropathy-coxa vara-pericarditis syndrome

Term ID
DOID:0090127
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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models