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Enchondromatosis

Disease ID: disease_node_2903

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DbxrefGARD:7251, ICD10CM:Q78.4, MESH:D004687, MIM:166000, NCI:C3213, ORDO:296, SNOMEDCT_US_2023_03_01:46041001, UMLS_CUI:C0024454
SubclassofDOID_225
Data SourceDOID, MESH
SynonymsENCHONDROMATOSIS, MULTIPLE, Enchondromatosis with haemangiomata, Kast's syndrome, dyschondroplasia, osteochondromatosis
Mesh IdD004687
Mesh LabelEnchondromatosis
Mesh SubclassofD010009
Doid LabelOllier disease
Doid DescriptionA 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. OMIM mapping confirmed by DO. [SN].
Disease Node Iddisease_node_2903
Doid IdDOID_4624
LabelEnchondromatosis