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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Osteochondrodysplasias > Camurati-Engelmann Syndrome
Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Osteochondrodysplasias > Camurati-Engelmann Syndrome

Preferred term

Camurati-Engelmann Syndrome  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Camurati Engelmann Disease
  • Camurati-Engelmann Disease
  • Diaphyseal Dysplasia 1, Progressive
  • Diaphyseal Dysplasia, Progressive
  • Diaphyseal Dysplasias, Progressive
  • Diaphyseal Hyperostoses
  • Diaphyseal Hyperostosis
  • Dysplasia, Progressive Diaphyseal
  • Dysplasias, Progressive Diaphyseal
  • Engelmann Disease
  • Engelmann's Disease
  • Hyperostoses, Diaphyseal
  • Hyperostosis, Diaphyseal
  • Progressive Diaphyseal Dysplasia

Scope note

  • An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder.

History note

  • 2007(1975)

In other languages

  • Camurati-Engelmannin oireyhtymä

    Finnish

  • Camurati
  • Camurati-Engelmann
  • Camurati-Engelmannin syndrooma
  • dysplasia diaphysialis progressiva
  • Engelmann
  • Engelmannin tauti
  • morbus Engelmann
  • progressiivinen diafyseaalinen dysplasia
  • progressiivinen diafyysidysplasia
  • syndroma Camurati-Engelmann
  • Camurati-Engelmanns syndrom

    Swedish

  • Diafysdysplasi, progressiv
  • Engelmanns sjukdom

URI

http://www.yso.fi/onto/mesh/D003966

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