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Disease Bloom Syndrome

Name Bloom Syndrome
Synonyms BLM | Bloom's Syndrome | Bloom Torre Machacek Syndrome | Bloom-Torre-Machacek Syndrome | BLS | BS | Congenital Telangiectatic Erythema | Syndrome, Bloom | Syndrome, Bloom-Torre-Machacek
Definition 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.
Categories Congenital abnormality | Metabolic disease
MeSH® ID D001816
OMIM® ID 210900
External Links

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Bloom Syndrome Has associated chemicals Has associated genes
2. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references DNA Repair-Deficiency Disorders Has associated chemicals Has associated genes Bloom Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

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