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loading...| Preferred Name |
Cherubism |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84630 |
| code |
C84630 |
| DEFINITION |
A rare autosomal dominant inherited disorder usually caused by mutations in the SH3BP2 gene. It is characterized by a prominent lower part of the face due to bilateral replacement of the mandibular or maxillary bones by lesions. The lesions contain osteoclast-like cells admixed with spindle-shaped mononuclear stromal cells. With time, the lesions become more fibrotic and less osteoclast-rich. |
| FULL_SYN |
Familial Multilocular Cystic Disease of the Jaws Familial Fibrous Dysplasia of the Jaws |
| label |
Cherubism |
| Preferred_Name |
Cherubism |
| prefixIRI |
C84630 |
| prefLabel |
Cherubism |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0008029 |
| subClassOf |
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