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ENCherubism (CRBM)
Alias:
Crbm
Familial Multilocular Cystic Disease of the Jaws
Familial Benign Giant-Cell Tumor of the Jaw
Familial Fibrous Dysplasia of Jaw
Fibrous Dysplasia of Jaw
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Cherubism, also known as crbm, is related to giant cell reparative granuloma and bone disease. An important gene associated with Cherubism is SH3BP2 (SH3 Domain Binding Protein 2), and among its related pathways/superpathways are Signal Transduction and RAF/MAP kinase cascade. Affiliated tissues include bone and lymph node, and related phenotypes are full cheeks and bone cyst
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MALACARDS
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