Search on: CHEDIAK-HIGASHI SYNDROME 
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Descriptor English:   Chediak-Higashi Syndrome 
Descriptor Spanish:   Síndrome de Chediak-Higashi 
Descriptor Portuguese:   Síndrome de Chediak-Higashi 
Tree Number:   C15.378.553.774.257
C20.673.774.257
Definition English:   A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle. 
Indexing Annotation English:   "a form of phagocyte bactericidal dysfunct"
See Related English:   Aleutian Mink Disease
 
History Note English:   71 
Allowable Qualifiers English:  
blood cerebrospinal fluid
chemically induced classification
congenital complications
diet therapy diagnosis
drug therapy economics
ethnology embryology
enzymology epidemiology
etiology genetics
history immunology
metabolism microbiology
mortality nursing
pathology prevention & control
physiopathology parasitology
psychology radiography
rehabilitation radionuclide imaging
radiotherapy surgery
therapy urine
ultrasonography veterinary
virology  
Record Number:   2654 
Unique Identifier:   D002609 

Occurrence in VHL:
 

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