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
Bloom's Syndrome
Bloom's Syndromes
Bloom-Torre-Machacek Syndrome
Congenital Telangiectatic Erythema
Congenital Telangiectatic Erythemas
Erythema, Congenital Telangiectatic
Syndrome, Bloom
Syndrome, Bloom-Torre-Machacek
Telangiectatic Erythema, Congenital  
Tree Number:   C16.131.077.137
C16.320.798.313
C18.452.284.100
C20.673.795.313
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
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:   1841 
Unique Identifier:   D001816 

Occurrence in VHL: 		 

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