has material basis in germline mutation in SH3BP2 autosomal dominant disease skeletal system disorder cherubism https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6747 https://github.com/monarch-initiative/mondo/issues/6751 https://rarediseases.info.nih.gov/diseases/6036/cherubism https://www.malacards.org/card/cherubism MEDGEN:40219 GARD:0006036 DOID:1856 Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases. MESH:D002636 ICD9:526.89 MONDO:0007315 cherubism NANDO:2200444 This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'immune system disorder' (MONDO:0005046) ontology branch (https://orcid.org/0000-0001-8216-5084) CRBM SCTID:76098004 UMLS:C0008029 familial fibrous dysplasia of the jaws familial multilocular cystic disease of the jaws MedDRA:10070535 NCIT:C84630 Orphanet:184 icd11.foundation:1729261719 OMIM:118400 multiple congenital anomalies/dysmorphic syndrome without intellectual disability hereditary neoplastic syndrome obsolete primary bone dysplasia with disorganized development of skeletal components autoinflammatory syndrome hereditary disorder of connective tissue