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DOID:0090127 - camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Disease Ontology 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.
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
Xenbase Genes
:
prg4
| MONDO:0008828 - camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)