About: Ataxia Telangiectasia Syndrome     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Ataxia Telangiectasia Syndrome
equivalentClass
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Ataxia Telangiectasia Syndrome
UMLS_CUI
  • C0004135
ALT_DEFINITION
  • A rare, inherited, progressive, degenerative disease of childhood that causes loss of muscle control, a weakened immune system, and an increased risk of cancer.NCI-GLOSS
Legacy_Concept_Name
  • Ataxia_Telangiectasia_Syndrome
FULL_SYN
  • ataxia-telangiectasiaPTNCI-GLOSSCDR0000270853
  • Louis-Bar SyndromeSYNCI
  • Ataxia Telangiectasia SyndromePTNCI
  • Ataxia TelangiectasiaSYNCI
DEFINITION
  • Rare hereditary disease characterized by extreme sensitivity to ionizing radiation or radiomimetic drugs because of a defect in DNA repair. AT heterozygosity is estimated to occur in more than 2% of the U.S. population; heterozygotes exhibit increased radiation sensitivity and are at increased risk for several types of cancer. The normal version of the gene that is defective in AT appears to activate the p53-dependent response to DNA damage.NCI
code
  • C2887
is someValuesFrom of
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