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Entry | Name | Description | Category | Pathway | Gene |
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H00526 |
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Jacobs syndrome |
... vara-pericarditis syndrome (CACP) is an autosomal recessive disorder caused by mutations in the Proteoglycan 4 (PRG4), a chondroitin sulfate proteoglycan that acts as a lubricant for the cartilage surface. Affected ... | Congenital malformation | PRG4 [HSA:10216] [KO:K24286] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |