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Items: 5

1.

Disorder of cardiovascular system

Any abnormality of the cardiovascular system. [from HPO]

MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
2.

Cardiovascular Diseases

MedGen UID:
881028
Concept ID:
CN236672
Disease or Syndrome
3.

Beta-blockers

MedGen UID:
850975
Concept ID:
CN231744
Disease or Syndrome
4.

Ataxia-telangiectasia, complementation group E

MedGen UID:
347919
Concept ID:
C1859616
Disease or Syndrome
5.

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 OMIM]

MedGen UID:
439
Concept ID:
C0004135
Congenital Abnormality; Disease or Syndrome
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