JSON

Ollier disease

^ http://purl.obolibrary.org/obo/MONDO_0008145

A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones. [ Orphanet:296 ]

Term info

database cross reference
  • GARD:0007251 (MONDO:equivalentTo)
  • SCTID:268274005 (MONDO:equivalentTo)
  • DOID:4624 (MONDO:equivalentTo)
  • NCIT:C3008 (MONDO:equivalentTo)
  • UMLS:C0024454 (MONDO:directSiblingOf)
  • OMIM:166000 (Orphanet:296/e)
  • SCTID:46041001 (MONDO:directSiblingOf)
  • UMLS:C0014084 (Orphanet:296/e)
  • MedDRA:10014642 (Orphanet:296/e)
  • UMLS:CN203308 (MONDO:equivalentTo)
  • Orphanet:296 (OMIM:166000)
  • UMLS:C0206641 (MONDO:equivalentTo)
  • NCIT:C3213 (MONDO:directSiblingOf)
Subsets

gard_rare, ordo_disease

IAO 0000233

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

closeMatch

http://identifiers.org/meddra/10014642

definition

A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.

exactMatch

http://purl.obolibrary.org/obo/DOID_4624, http://linkedlifedata.com/resource/umls/id/CN203308, http://linkedlifedata.com/resource/umls/id/C0206641, http://identifiers.org/snomedct/268274005, http://purl.obolibrary.org/obo/NCIT_C3008, http://purl.obolibrary.org/obo/Orphanet_296, http://linkedlifedata.com/resource/umls/id/C0014084, https://omim.org/entry/166000

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019716, http://purl.obolibrary.org/obo/MONDO_0019708, http://purl.obolibrary.org/obo/MONDO_0015356, http://purl.obolibrary.org/obo/MONDO_0019755, http://purl.obolibrary.org/obo/MONDO_0021147

has exact synonym

dyschondroplasia, osteochondromatosis, Ollier type enchondromatosis, enchondromatosis, multiple, enchondromatosis with haemangiomata, Kast's syndrome, Ollier's disease, Ollier disease

has related synonym

enchondromatosis, multiple enchondromatosis, enchondromatosis, multiple, Ollier type, multiple cartilaginous enchondroses

id

MONDO:0008145

seeAlso

https://rarediseases.info.nih.gov/diseases/7251/ollier-disease