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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Primary Immunodeficiency Diseases > Bloom Syndrome
Immune System Diseases > Immunologic Deficiency Syndromes > Primary Immunodeficiency Diseases > Bloom Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Bloom Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > DNA Repair-Deficiency Disorders > Bloom Syndrome

Terme préférentiel

Bloom Syndrome  

Type

  • mesh:Descriptor

Définition

  • An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.

Concept générique

Concepts associés

Synonyme(s)

  • Bloom's Syndrome
  • Bloom-Torre-Machacek Syndrome
  • Congenital Telangiectatic Erythema

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-DM26165D-D

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RDF/XML TURTLE JSON-LD Date de création 23/02/1981, dernière modification le 17/06/2019