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DeCS
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Descriptor English:
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Bloom Syndrome
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Descriptor Spanish:
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síndrome de Bloom
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Descriptor Portuguese:
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Síndrome de Bloom
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Synonyms English:
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Bloom Torre Machacek Syndrome
Bloom's Syndrome
Bloom-Torre-Machacek Syndrome
Congenital Telangiectatic Erythema
Syndrome, Bloom
Syndrome, Bloom-Torre-Machacek
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Tree Number:
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C16.131.077.137
C18.452.284.100
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Definition English:
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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:
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82
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Allowable Qualifiers English:
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Record Number:
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1841
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Unique Identifier:
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D001816
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Occurrence in VHL:
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Similar:
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DeCS
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