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genochondromatosis type 2

Disease Summary
Associated Targets ()

Mondo Description Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.
Mondo Term and Equivalent IDs
MONDO:0019680:  genochondromatosis type 2
Orphanet:93398: 
SCTID:725904009: 
UMLS:C4511481: 
UMLS:CN206604: