Ataxia telangiectasia

{
  "id": "MLC-T-CHM-012898",
  "term": "Ataxia telangiectasia",
  "field": "Chemistry",
  "definition": "A rare, inherited neurodegenerative disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasias, and immunodeficiency. This condition results from mutations in the ATM gene, which is involved in DNA repair. Individuals with ataxia telangiectasia have an increased risk of developing certain cancers and are highly sensitive to ionizing radiation.",
  "subject": "Chemistry and Human Health",
  "see_also": [
    "immunodeficiency"
  ],
  "references": [
    "PAC, 2012, 84, 1113. 'IUPAC glossary of terms used in immunotoxicology (IUPAC Recommendations 2012)' on page 1128 (https://doi.org/10.1351/PAC-REC-11-06-03)"
  ],
  "url": "https://mlchart.com/terminology/chemistry/ataxia-telangiectasia/"
}