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Metadata
ID DOID:1856
Name cherubism
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 SH3BP2 on chromosome 4p16.3.
https://www.ncbi.nlm.nih.gov/pubmed/10364528, https://www.ncbi.nlm.nih.gov/pubmed/11381256
Xrefs

GARD:6036

ICD10CM:M27.8

MESH:D002636

NCI:C84630

OMIM:118400

SNOMEDCT_US_2020_09_01:76098004

UMLS_CUI:C0008029

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Parent Relationships

is_a skin disease

is_a autosomal dominant disease

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