Search Ontology:
Human Disease

cherubism

Term ID
DOID:1856
Synonyms
Definition
A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has_material_basis_in heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3. (2)
References
  • GARD:6036
  • ICD10CM:M27.8
  • MESH:D002636
  • MIM:118400
  • NCI:C84630
  • SNOMEDCT_US_2023_03_01:76098004
  • UMLS_CUI:C0008029
Ontology
Human Disease   ( DOID:1856 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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