Term Name: camptodactyly-arthropathy-coxa vara-pericarditis syndrome
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.
Ontology: Human Disease [DOID:0090127]   ( DOID:0090127 )

Relationships
is a type of: autosomal recessive disease syndrome