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Concept information

Preferred term

Camurati-Engelmann Syndrome  

Type

  • mesh:Descriptor

Definition

  • 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.

Broader concept

Entry terms

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

In other languages

URI

http://data.loterre.fr/ark:/67375/JVR-T6NMN5M3-B

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RDF/XML TURTLE JSON-LD Created 11/11/74, last modified 7/2/18