Preferred Name |
cherubism |
|
Synonyms |
|
|
Definitions |
OMIM mapping confirmed by DO. [SN]. |
|
ID |
http://purl.obolibrary.org/obo/DOID_1856 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
ICD10CM:M27.8 MESH:D002636 UMLS_CUI:C0008029 SNOMEDCT_US_2023_03_01:76098004 GARD:6036 MIM:118400 NCI:C84630 |
|
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 |
Create mapping