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 
Synonyms English:   Chediak-Steinbrinck-Higashi Syndrome
Oculocutaneous Albinism with Leukocyte Defect
Chediak Higashi Syndrome
Syndrome, 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:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications CN congenital
DI diagnosis DG diagnostic imaging
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RT radiotherapy RH rehabilitation
SU surgery TH therapy
UR urine VE veterinary
VI virology  
Record Number:   2654 
Unique Identifier:   D002609 

Occurrence in VHL:
 

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