FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hereditary multiple exostoses ID (Ontology) DOID:206 (Human Disease)
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.
Also Known As "hereditary multiple exostoses 1" ; "hereditary multiple exostoses 2" ; "hereditary multiple exostoses 3" (for all, see Synonyms field below)
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 Genes
 hereditary multiple exostoses       2
 for disease ribbon | hereditary multiple exostoses       2
 model of | hereditary multiple exostoses       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
hyperostosis                    |
 |__exostosis___________________|
                                hereditary multiple exostoses  2 rec.
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Is a autosomal dominant disease
exostosis
Part of
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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
Secondary IDs
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ICD10CM:Q78.6
MESH:D005097
MIM:133700
MIM:133701
MIM:600209
NCI:C5183
ORDO:321
SNOMEDCT_US_2023_03_01:254044004
UMLS_CUI:C0015306