About   Help   FAQ
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: 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.

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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory