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Bloom Syndrome
Hierarchy: | ∟ ∟ ∟ ∟ Bloom Syndrome 41 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Bloom Syndrome 41 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ |
Broader terms: | |
History note: | Abnormalities, Multiple (1968-1981) | Dwarfism (1966-1981) | Facial Dermatoses (1966-1981) | Telangiectasis (1966-1981)X |
historyNote*: | 82
X |
publicMeSHNote*: | 82
X |
Scope note: | 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.
X |
activeMeSHYear*: | |
dateCreated*: | 1981-02-23X |
dateEstablished*: | 1982-01-01X |
dateRevised*: | 2005-06-30X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | nnsX |
recordOriginator*: | AEPX |
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Labels and equivalent concepts: | Bloomin oireyhtymä (fi) XBloom-Torre-Machacek Syndrome (en, replaced) Síndrome de Bloom (es) σύνδρομο Bloom (el) Bloom-Syndrom (de) Bloomův syndrom (cs) Síndrome de Bloom-Torre-Machacek (es, replaced) Bloom-Torre-Machacek-Syndrom (de, replaced) |
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