| umls-concept:C0005859 | skos:definition | MSH: 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.,CSP: autosomal recessive disorder characterized by telangiectatic erythema of the face, photosensitivity, dwarfism, and other abnormalities.,NCI: A rare, inherited disorder marked by height that is shorter than average, a narrow face with redness and a rash, a high-pitched voice, and fertility problems. Patients with this disorder have an increased risk of cancer, especially leukemia and osteosarcoma (bone cancer). Bloom syndrome is caused by changes in a protein that normally helps cells make copies of the DNA. Changes in this protein cause many breaks, rearrangements, and other mutations in the DNA. It is a type of autosomal recessive genetic disease.,NCI: Bloom syndrome is an autosomal recessive disorder associated with mutations in BLM gene encoding protei | lld:umls |
