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
• NCI:C5183
• OMIM:133700
• OMIM:133701
• OMIM:600209
• ORDO:321
• SNOMEDCT_US_2023_03_01:254044004
• UMLS_CUI:C0015306

Ontology

Human Disease   ( DOID:206 )