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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Dwarfism > Laron Syndrome
Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Dwarfism > Laron Syndrome
Endocrine System Diseases > Dwarfism > Laron Syndrome

Preferred term

Laron Syndrome  

Type

  • mesh:Descriptor

Definition

  • An autosomal recessive disorder characterized by short stature, defective GROWTH HORMONE RECEPTOR, and failure to generate INSULIN-LIKE GROWTH FACTOR I by GROWTH HORMONE. Laron syndrome is not a form of primary pituitary dwarfism (GROWTH HORMONE DEFICIENCY DWARFISM) but the result of mutation of the human GHR gene on chromosome 5.

Broader concept

Entry terms

  • Growth Hormone Insensitivity Syndrome
  • Growth Hormone Receptor Defect
  • Growth Hormone Receptor Deficiency
  • Laron Dwarfism
  • Laron Type Dwarfism I
  • Pituitary Dwarfism II
  • Primary GH Resistance
  • Primary Growth Hormone Resistance
  • Severe GH Insensitivity

Allowable Qualifier(s)

In other languages

  • Syndrome de Laron

    French

  • Anomalie du récepteur à l'hormone de croissance
  • Anomalie du récepteur à la GH
  • Nanisme de Laron
  • Nanisme par résistance à l'hormone de croissance
  • Résistance primaire à l'hormone de croissance
  • Syndrome d'insensibilité à l'hormone de croissance
  • Syndrome de résistance primitive à la GH

URI

http://data.loterre.fr/ark:/67375/JVR-WZPNX59K-W

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RDF/XML TURTLE JSON-LD Created 7/7/04, last modified 7/3/12