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 ]
Synonyms: dyschondroplasia osteochondromatosis Ollier type enchondromatosis enchondromatosis, multiple enchondromatosis with haemangiomata Kast's syndrome Ollier's disease Ollier disease
Term information
- NANDO:2201015 (https://orcid.org/0000-0003-0011-764X)
- UMLS:C0014084 (MONDO:equivalentTo)
- NANDO:2200049 (https://orcid.org/0000-0003-0011-764X)
- NCIT:C3008 (MONDO:equivalentTo)
- SCTID:268274005 (MONDO:equivalentTo)
- MEDGEN:41775 (MONDO:equivalentTo)
- Orphanet:296 (OMIM:166000)
- SCTID:46041001 (MONDO:directSiblingOf)
- NORD:1526 (MONDO:NORD)
- MedDRA:10014642 (Orphanet:296/e)
- NCIT:C3213 (MONDO:directSiblingOf)
- GARD:7251 (MONDO:GARD)
- DOID:4624 (MONDO:equivalentTo)
- OMIM:166000 (Orphanet:296/e)
gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare
http://purl.obolibrary.org/obo/DOID_4624
http://identifiers.org/medgen/41775
http://identifiers.org/snomedct/268274005
http://linkedlifedata.com/resource/umls/id/C0014084
http://purl.obolibrary.org/obo/NCIT_C3008
https://omim.org/entry/166000
http://www.orpha.net/ORDO/Orphanet_296
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
enchondromatosis
multiple enchondromatosis
enchondromatosis, multiple, Ollier type
multiple cartilaginous enchondroses