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Results: 3

1.

Ataxia-telangiectasia variant

MedGen UID:
406286
Concept ID:
C1876175
Disease or Syndrome
2.

Ataxia-telangiectasia, complementation group E

MedGen UID:
347919
Concept ID:
C1859616
Disease or Syndrome
3.

Ataxia-telangiectasia syndrome

Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to killing by ionizing radiation (IR), and abnormally resistant to inhibition of DNA synthesis by ionizing radiation. The latter trait has been used to identify complementation groups for the classic form of the disease (Jaspers et al., 1988). At least 4 of these (A, C, D, and E) map to chromosome 11q23 (Sanal et al., 1990) and are associated with mutations in the ATM gene. [from NCBI]

MedGen UID:
439
Concept ID:
C0004135
Disease or Syndrome

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