Cherubism (CRBM)

家族性巨颌症(来自ICD-11)

别称:

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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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

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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