JSON

cherubism

^ http://purl.obolibrary.org/obo/MONDO_0007315

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. [ Orphanet:184 ]

Term info

database cross reference
  • NCIT:C84630 (MONDO:equivalentTo)
  • SCTID:76098004 (MONDO:equivalentTo)
  • DOID:1856 (MONDO:equivalentTo)
  • MESH:D002636 (Orphanet:184/e)
  • Orphanet:184 (OMIM:118400)
  • MedDRA:10070535 (Orphanet:184/e)
  • GARD:0006036 (MONDO:equivalentTo)
  • ICD9:526.89 (MONDO:relatedTo)
  • OMIM:118400 (Orphanet:184/e)
  • UMLS:C0008029 (Orphanet:184/e)
Subsets

gard_rare, ordo_malformation_syndrome

abbreviation
CRBM [ Orphanet:184 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4948

closeMatch

http://identifiers.org/meddra/10070535

definition

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.

exactMatch

https://omim.org/entry/118400, http://linkedlifedata.com/resource/umls/id/C0008029, http://identifiers.org/snomedct/76098004, http://purl.obolibrary.org/obo/Orphanet_184, http://purl.obolibrary.org/obo/DOID_1856, http://purl.obolibrary.org/obo/NCIT_C84630, http://identifiers.org/mesh/D002636

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019708

has exact synonym

familial multilocular cystic disease of the jaws, CRBM, cherubism, familial fibrous dysplasia of the jaws

id

MONDO:0007315

seeAlso

https://rarediseases.info.nih.gov/diseases/6036/cherubism