| Metadata | |
|---|---|
| ID | DOID:206 |
| Name | hereditary multiple exostoses |
| 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. http://atlasgeneticsoncology.org/Kprones/HeredMultExostosID10061.html, http://en.wikipedia.org/wiki/Hereditary_multiple_exostoses, http://ghr.nlm.nih.gov/condition/hereditary-multiple-exostoses, http://www.mheresearchfoundation.org/, http://www.wheelessonline.com/ortho/multiple_cartilaginous_exostoses_hereditary_exostosis |
| Xrefs |
SNOMEDCT_US_2023_03_01:254044004 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
hereditary multiple exostoses 1 [EXACT] hereditary multiple exostoses 2 [EXACT] hereditary multiple exostoses 3 [EXACT] Multiple congenital exostosis [EXACT] Multiple exostosis syndromes [EXACT] multiple ostechondromas [EXACT] Osteochondromatosis syndrome [EXACT] |
| Parent Relationships |
is_a exostosis |