Terminology Service for NFDI4Health
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Ollier disease

Go to external page 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. [ ]

Term info

Label

Ollier disease

Synonyms
  • Kast's syndrome
  • Ollier disease
  • Ollier type enchondromatosis
  • Ollier's disease
  • dyschondroplasia
  • enchondromatosis with haemangiomata
  • enchondromatosis, multiple
  • osteochondromatosis
database cross reference
Subsets

gard_rare, ordo_disease

closeMatch

http://identifiers.org/meddra/10014642

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_0019708

has related synonym

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

id

MONDO:0008145

see also

https://rarediseases.info.nih.gov/diseases/7251/ollier-disease, https://github.com/monarch-initiative/mondo/issues/4948