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Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome

^ http://www.ebi.ac.uk/efo/EFO_0009028


The camptodactyly-arthropathy-coxa vara-pericarditis syndrome is an autosomal recessive condition characterized by the association of congenital or early-onset camptodactyly and noninflammatory arthropathy with synovial hyperplasia. [ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern ]

Synonyms: CACP syndrome, Jacobs syndrome, Arthropathy-camptodactyly syndrome, Pericarditis-arthropathy-camptodactyly syndrome

Term info

database cross reference
  • Orphanet:2848 (http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern)
  • OMIM:208250 (http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern)
term editor

Hannah McLaren