National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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Preferred Name

Ataxia Telangiectasia Syndrome
Synonyms

Ataxia Telangiectasia

Louis-Bar Syndrome

Ataxia-telangiectasia

ataxia-telangiectasia

Ataxia-Telangiectasia Syndrome

Ataxia Telangiectasia Syndrome
Definitions

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.
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2887
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.
code

C2887
Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177537
Contributing_Source

Cellosaurus

CCPS

CTRP

GDC
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.
Display_Name

Ataxia Telangiectasia Syndrome
FULL_SYN

Ataxia Telangiectasia

Louis-Bar Syndrome

Ataxia-telangiectasia

ataxia-telangiectasia

Ataxia-Telangiectasia Syndrome

Ataxia Telangiectasia Syndrome
Is_Value_For_GDC_Property

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17103

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16457
label

Ataxia Telangiectasia Syndrome
Legacy Concept Name

Ataxia_Telangiectasia_Syndrome
Maps_To

Ataxia-telangiectasia
Preferred_Name

Ataxia Telangiectasia Syndrome
prefixIRI

Thesaurus:C2887
Related_To_Genetic_Biomarker

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18583
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0004135
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7757

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27871

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84348
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