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Concept information

disease > genetic disease > hereditary disease > Chediak syndrome
disease > skin appendages disease > skin disease > Chediak syndrome
disease > eye disease > Chediak syndrome
disease > immunopathology > immune deficiency > Chediak syndrome
disease > immunopathology > leukocyte disease > Chediak syndrome
disease > hemopathy > leukocyte disease > Chediak syndrome

Preferred term

Chediak syndrome  

Definition

  • Chédiak–Higashi syndrome (CHS) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis. (Wikipedia)

Broader concept

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URI

http://data.loterre.fr/ark:/67375/VH8-HTND2FS7-5

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