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... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Osteochondrodysplasias > Osteochondroma > Osteochondromatosis > Exostoses, Multiple Hereditary
... > Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Osteochondrodysplasias > Osteochondroma > Osteochondromatosis > Exostoses, Multiple Hereditary
... > Skin and Connective Tissue Diseases > Connective Tissue Diseases > Neoplasms, Connective Tissue > Neoplasms, Bone Tissue > Osteochondroma > Osteochondromatosis > Exostoses, Multiple Hereditary
... > Neoplasms > Neoplasms by Histologic Type > Neoplasms, Connective and Soft Tissue > Neoplasms, Connective Tissue > Neoplasms, Bone Tissue > Osteochondroma > Osteochondromatosis > Exostoses, Multiple Hereditary
Musculoskeletal Diseases > Bone Diseases > Hyperostosis > Exostoses > Exostoses, Multiple Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Neoplastic Syndromes, Hereditary > Exostoses, Multiple Hereditary
Neoplasms > Neoplastic Syndromes, Hereditary > Exostoses, Multiple Hereditary

Preferred term

Exostoses, Multiple Hereditary  

Type

  • mesh:Descriptor

Definition

  • Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.

Broader concept

Entry terms

  • Bessel-Hagen Disease
  • Chondrodysplasia, Hereditary Deforming
  • Diaphyseal Aclasis
  • Exostoses, Familial
  • Exostoses, Hereditary Multiple
  • Exostoses, Multiple
  • Exostoses, Multiple Cartilaginous
  • Exostoses, Multiple, Type I
  • Exostosis, Familial
  • Exostosis, Hereditary Multiple
  • Exostosis, Multiple
  • Exostosis, Multiple Cartilaginous
  • Familial Exostoses
  • Hereditary Multiple Exostoses
  • Hereditary Multiple Exostosis
  • Multiple Cartilaginous Exostoses
  • Multiple Hereditary Exostoses
  • Multiple Osteochondromas
  • Multiple Osteochondromatosis
  • Osteochondromas, Multiple

Allowable Qualifier(s)

In other languages

  • Maladie des exostoses multiples

    French

  • Aclasie diaphysaire
  • Chondrodysplasie déformante héréditaire
  • Chondrodysplasie héréditaire déformante
  • Maladie de Bessel-Hagen
  • Maladie exostosante multiple
  • Maladie ostéogénique
  • Ostéochondromatose diffuse de Bessel-Hagen
  • Ostéochondromes multiples

URI

http://data.loterre.fr/ark:/67375/JVR-WPXK4HP3-Q

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