| Metadata | |
|---|---|
| ID | DOID:0090127 |
| Name | camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/29397575, https://www.omim.org/entry/208250 |
| Xrefs |
SNOMEDCT_US_2023_03_01:771187008 |
| Subsets |
DO_rare_slim |
| Synonyms |
arthropathy-camptodactyly syndrome [EXACT] CACP [EXACT] CACP syndrome [EXACT] camptodactyly-arthropathy-pericarditis syndrome [EXACT] CAP syndrome [EXACT] congenital familial hypertrophic synovitis [EXACT] familial fibrosing serositis [EXACT] Jacobs syndrome [EXACT] PAC syndrome [EXACT] pericarditis-arthropathy-camptodactyly syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |