Search Ontology:
Human Disease
hereditary multiple exostoses
- Term ID
- DOID:206
- Synonyms
-
- hereditary multiple exostoses 1
- hereditary multiple exostoses 2
- hereditary multiple exostoses 3
- Multiple congenital exostosis
- Multiple exostosis syndromes
- multiple ostechondromas
- Osteochondromatosis syndrome
- 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. (5)
- References
-
- ICD10CM:Q78.6
- MESH:D005097
- MIM:133700
- MIM:133701
- MIM:600209
- NCI:C5183
- ORDO:321
- SNOMEDCT_US_2023_03_01:254044004
- UMLS_CUI:C0015306
- Ontology
- Human Disease ( DOID:206 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models