Search Ontology:
Human Disease
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
- Term ID
- DOID:0090127
- Synonyms
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- arthropathy-camptodactyly syndrome
- CACP
- CACP syndrome
- camptodactyly-arthropathy-pericarditis syndrome
- CAP syndrome
- congenital familial hypertrophic synovitis
- familial fibrosing serositis
- Jacobs syndrome
- PAC syndrome
- pericarditis-arthropathy-camptodactyly 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. (2)
- References
-
- MESH:C537560
- MIM:208250
- ORDO:2848
- SNOMEDCT_US_2023_03_01:771187008
- UMLS_CUI:C1859690
- Ontology
- Human Disease ( DOID:0090127 )
- is a type of
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Genes Involved
Zebrafish Models