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. [ url:http://www.wheelessonline.com/ortho/multiple_cartilaginous_exostoses_hereditary_exostosis http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007646 url:http://www.mheresearchfoundation.org/ url:http://atlasgeneticsoncology.org/Kprones/HeredMultExostosID10061.html url:http://en.wikipedia.org/wiki/Hereditary_multiple_exostoses url:http://ghr.nlm.nih.gov/condition/hereditary-multiple-exostoses ]
Synonyms: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome multiple ostechondromas hereditary multiple exostoses 3 hereditary multiple exostoses 2 hereditary multiple exostoses 1
Term information
- OMIM:133700
- MESH:D005097
- OMIM:600209
- NCI:C5183
- UMLS_CUI:C0015306
- ICD10CM:Q78.6
- OMIM:133701
- ORDO:321
- SNOMEDCT_US_2020_09_01:254044004
DO_rare_slim, NCIthesaurus