You are using an outdated browser. Please upgrade your browser to improve your experience.

Ollier disease

Disease Summary
Associated Targets (6)
Tclin

3

Tbio

2

Tchem

1


GARD Rare
Mondo Description Enchondromatosis is 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.
Uniprot Description A condition characterized by multiple formation of enchondromas, benign neoplasms derived from mesodermal cells that form cartilage. Enchondromas remain within the substance of a cartilage or bone. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma.
Disease Ontology Description A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet.
Mondo Term and Equivalent IDs
MONDO:0008145:  Ollier disease
GARD:0007251: 
NCIT:C3008: 
Orphanet:296: 
SCTID:268274005: 
UMLS:C0014084: 
UMLS:C0206641: 
UMLS:CN203308: