Preferred Name |
Cherubism |
|
Synonyms |
Familial Fibrous Dysplasia of the Jaws Familial Multilocular Cystic Disease of the Jaws Cherubism |
|
Definitions |
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. |
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84630 |
|
code |
C84630 |
|
Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 |
|
Contributing_Source |
Cellosaurus PCDC |
|
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 Fibrous Dysplasia of the Jaws Familial Multilocular Cystic Disease of the Jaws Cherubism |
|
label |
Cherubism |
|
Preferred_Name |
Cherubism |
|
prefixIRI |
Thesaurus:C84630 |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C0008029 |
|
subClassOf |