Search on: BLOOM-TORRE-MACHACEK SYNDROME 
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Descriptor English:   Bloom Syndrome 
Descriptor Spanish:   Síndrome de Bloom 
Descriptor Portuguese:   Síndrome de Bloom 
Synonyms English:   Bloom-Torre-Machacek Syndrome  
Tree Number:   C16.131.077.137
C18.452.284.100
Definition English:   An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. 
History Note English:   82 
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
ultrastructure urine
ultrasonography veterinary
virology  
Record Number:   1841 
Unique Identifier:   D001816 

Occurrence in VHL:
 

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