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| Term | camptodactyly-arthropathy-coxa vara-pericarditis syndrome | ID (Ontology) | DOID:0090127 (Human Disease) |
| 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. | ||
| Also Known As | "arthropathy-camptodactyly syndrome" ; "CACP" ; "CACP syndrome" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ disease | |__syndrome_____________________| camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
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| Is a |
autosomal recessive disease syndrome |
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MESH:C537560 MIM:208250 ORDO:2848 SNOMEDCT_US_2023_03_01:771187008 UMLS_CUI:C1859690 |
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