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DO Term : camptodactyly-arthropathy-coxa vara-pericarditis syndrome [DOID:0090127] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • CACP,
  • pericarditis-arthropathy-camptodactyly syndrome,
  • ORDO:2848,
  • PAC syndrome,
  • congenital familial hypertrophic synovitis,
  • CAP syndrome,
  • arthropathy-camptodactyly syndrome,
  • camptodactyly-arthropathy-pericarditis syndrome,
  • SNOMEDCT_US_2023_03_01:771187008,
  • UMLS_CUI:C1859690,
  • Jacobs syndrome,
  • OMIM:208250,
  • MESH:C537560,
  • familial fibrosing serositis,
  • 208250,
  • CACP syndrome
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