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Disease Ontology Browser
camptodactyly-arthropathy-coxa vara-pericarditis syndrome (DOID:0090127)
Alliance: disease page
Synonyms: 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
Alt IDs: OMIM:208250, MESH:C537560, ORDO:2848, UMLS_CUI:C1859690
Definition: An autosomal recessive disease 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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/18/2020
MGI 6.14
The Jackson Laboratory