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Entry Name Description Category Pathway Gene
H00497 Cherubism ... in childhood. The maxillary bones are replaced with pseudocystic osteolytic lesions, affecting dentition. Mutated SH3BP2, which can enhance BCR signaling, is involved in the pathogenesis of cherubism. Digestive system disease SH3BP2 [HSA:6452] [KO:K07984]
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