Terminology Service for NFDI4Health
cherubism
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http://purl.obolibrary.org/obo/DOID_1856
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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
Label
cherubism
Subsets
NCIthesaurus
comment
OMIM mapping confirmed by DO. [SN].
has obo namespace
disease_ontology
id
DOID:1856