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Entry Name Description Category Pathway Gene
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]
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