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loading...| Preferred Name |
cherubism |
| Definitions |
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. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_1856 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
SNOMEDCT_US_2022_09_01:76098004 MESH:D002636 GARD:6036 NCI:C84630 OMIM:118400 ICD10CM:M27.8 UMLS_CUI:C0008029 |
| 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. |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:1856 |
| in_subset | |
| label |
cherubism |
| notation |
DOID:1856 |
| prefLabel |
cherubism |
| subClassOf |
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