Search on: BLOOM 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:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
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
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   1841 
Unique Identifier:   D001816 

Occurrence in VHL:
 

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