Preferred Name |
Cherubism |
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Synonyms |
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ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Cherubism |
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DEFINITION |
A rare disorder usually caused by mutations in the SH3BP2 gene. It is characterized by prominence of the lower part of the face due to bilateral replacement of the mandible or maxilla bones by excessive fibrous tissue. |
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label |
Cherubism |
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prefixIRI |
Thesaurus:Cherubism |
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prefLabel |
Cherubism |
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subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder |
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