hereditary multiple exostoses

created [InstanceEdit:3656245] Jassal, B, 2013-05-31
databaseName DOID
dbId 3656226
definition 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.
displayName hereditary multiple exostoses
identifier 206
name
  • hereditary multiple exostoses
referenceDatabase [ReferenceDatabase:1247631] DOID
schemaClass Disease
synonym
  • Osteochondromatosis syndrome (disorder) [Ambiguous]
  • Multiple exostosis syndromes
  • Multiple congenital exostosis
url https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:206

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