Ataxia Telangiectasia Syndrome

Preferred Label : Ataxia Telangiectasia Syndrome;

NCIt synonyms : Ataxia Telangiectasia; Louis-Bar Syndrome; Ataxia-Telangiectasia Syndrome;

NCIt related terms : Ataxia-telangiectasia;

NCIt 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.;

Alternative definition : NCI-GLOSS: A rare, inherited, progressive, degenerative disease of childhood that causes loss of muscle control, a weakened immune system, and an increased risk of cancer.;

Codes from synonyms : CDR0000270853;

Details

Origin ID

C2887;

UMLS CUI

C0004135;

Currated CISMeF NLP mapping
- Ataxia telangiectasia [PASCAL descriptor]
- Ataxia telangiectasia [MedDRA Preferred Term]
- Ataxia-telangiectasia [ICD-11 More detail]
- Ataxia-telangiectasia [OMIM Phenotype]
- Ataxia-telangiectasia [ORDO Disease]
- Ataxia-telangiectasia syndrome (disorder) [SNOMED CT concept]
- ataxia telangiectasia [DO Concept]
- ataxia telangiectasia [Disease (Nov.)]
- ataxia telangiectasia [MedlinePlus Topic]
- ataxia telangiectasia [MeSH Descriptor]
- ataxia telangiectasia [MeSH concept]
- ataxia telangiectasia [Radlex concept]
- ataxia-telangiectasia syndrome [SNOMED Notion]
DO Cross reference
- ataxia telangiectasia [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ataxia telangiectasia [PASCAL descriptor]
- Ataxia telangiectasia [MedDRA Preferred Term]
- Ataxia-telangiectasia [ORDO Disease]
- Ataxia-telangiectasia [OMIM Phenotype]
- Ataxia-telangiectasia [ICD-11 More detail]
- Ataxia-telangiectasia syndrome (disorder) [SNOMED CT concept]
- ataxia telangiectasia [Radlex concept]
- ataxia telangiectasia [DO Concept]
- ataxia telangiectasia [Disease (Nov.)]
- ataxia telangiectasia [MedlinePlus Topic]
- ataxia telangiectasia [MeSH Descriptor]
- ataxia telangiectasia [MeSH concept]
- ataxia-telangiectasia syndrome [SNOMED Notion]
associated_with_malfunction_of_gene_product
- Serine-Protein Kinase ATM [NCIt concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
disease_excludes_molecular_abnormality
- BMPR1A Gene Mutation [NCIt concept]
- PTCH1 Gene Mutation [NCIt concept]
- PTEN Gene Mutation [NCIt concept]
- SMAD4 Gene Mutation [NCIt concept]
- STK11 Gene Mutation [NCIt concept]
disease_has_associated_disease
- Hamartoma [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- ATM Gene Mutation [NCIt concept]
disease_mapped_to_gene
- ATM Gene [NCIt concept]
disease_may_have_associated_disease
- Acute Lymphoblastic Leukemia [NCIt concept]
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]
- Non-Hodgkin Lymphoma [NCIt concept]
- T-Cell Prolymphocytic Leukemia [NCIt concept]
pathogenesis_of_disease_involves_gene
- ATM Gene [NCIt concept]
- ATM wt Allele [NCIt concept]
related_to_genetic_biomarker
- ATM Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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