Search on: CHOLESTEROL ESTER STORAGE DISEASE 
Descriptors Found: 1
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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 
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:  
blood cerebrospinal fluid
chemically induced classification
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:   23586 
Unique Identifier:   D015217 

Occurrence in VHL: 		 

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