camptodactyly-arthropathy-coxa vara-pericarditis syndrome
http://purl.obolibrary.org/obo/MONDO_0008828
Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis. [ Orphanet:2848 ]
Term info
- Orphanet:2848 (OMIM:208250)
- GARD:0000306 (MONDO:equivalentTo)
- EFO:0009028 (MONDO:equivalentTo)
- MESH:C537560 (MONDO:equivalentTo)
- DOID:0090127 (MONDO:equivalentTo)
- OMIM:208250 (Orphanet:2848/e)
gard_rare, ordo_disease
Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.
http://purl.obolibrary.org/obo/DOID_0090127, https://omim.org/entry/208250, http://purl.obolibrary.org/obo/Orphanet_2848, http://identifiers.org/mesh/C537560
CACP syndrome, congenital familial hypertrophic synovitis, pericarditis-arthropathy-camptodactyly syndrome, CACP, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Jacobs syndrome, arthropathy-camptodactyly syndrome, camptodactyly-arthropathy-pericarditis syndrome, familial fibrosing serositis, PAC syndrome
arthropathy camptodactyly syndrome, pericarditis arthropathy camptodactyly syndrome, fibrosing serositis, familial, camptodactyly arthropathy coxa vara pericarditis syndrome, camptodactyly arthropathy pericarditis syndrome, hypertrophic synovitis, congenital familial, camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
MONDO:0008828
https://rarediseases.info.nih.gov/diseases/306/camptodactyly-arthropathy-coxa-vara-pericarditis-syndrome