Human genes for camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome [DOID:0090127]
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.
Synonyms: camptodactyly-arthropathy-coxa vara-pericarditis syndrome, camptodactylyarthropathycoxa varapericarditis syndrome, camptodactyly-arthropathy-coxa vara-pericarditis disease, camptodactyly-arthropathy-coxa vara-pericarditis disorder, camptodactyly-arthropathy-coxa vara-pericarditis syndromes ...