Search on: CHOLESTEROL ESTER STORAGE DISEASE 
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Descriptor English:   Cholesterol Ester Storage Disease 
Descriptor Spanish:   Enfermedad de Acumulación de Colesterol Éster 
Descriptor Portuguese:   Doença do Armazenamento de Colesterol Éster 
Synonyms English:   Cholesteryl Ester Storage Disease  
Tree Number:   C16.320.565.398.641.201
C16.320.565.595.201
C18.452.584.687.201
C18.452.648.398.641.201
C18.452.648.595.201
Definition English:   An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. 
See Related English:   Sterol Esterase
 
History Note English:   89 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications 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:   23586 
Unique Identifier:   D015217 

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