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hereditary multiple osteochondromas

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


GARD Rare
Mondo Description Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.
Disease Ontology Description An exostosis that has material basis in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth.
Mondo Term and Equivalent IDs
MONDO:0005508:  hereditary multiple osteochondromas
DC:0000143: 
EFO:0005560: 
GARD:0007035: 
MESH:D005097: 
NCIT:C5183: 
Orphanet:321: 
SCTID:254044004: 
SCTID:716742001: 
UMLS:CN204014: