RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
DYSCHONDROPLASIA; Dyschondroplasia and Cavernous Hemangioma; ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE; Enchondromatoses; Enchondromatosis with Hemangiomata; Enchondromatosis with Multiple Cavernous Hemangiomas; Enchondromatosis, Multiple; Hemangiomata with Dyschondroplasia; Hemangiomatosis Chondrodystrophica; Kast Syndrome; Kast's syndrome; Multiple Angiomas and Endochondromas; Multiple Enchondroma; Multiple Enchondromas; Multiple Enchondroses; Ollier's disease; Olliers disease; chondrodysplasia with hemangioma; chondroplasia angiomatosis; dyschondrodysplasia with hemangiomas; enchondromatosis; enchondromatosis with haemangiomata; multiple enchondrosis; osteochondromatosis
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Enchondromatosis | ClinVar Annotator: match by term: Kast Syndrome | ClinVar Annotator: match by term: Multiple enchondromatosis
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