Biological and Environmental Research Ontology

Last uploaded: December 23, 2022
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Preferred Name

Ataxia Telangiectasia Syndrome
Synonyms
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://purl.obolibrary.org/obo/NCIT_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
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
in_subset

http://purl.obolibrary.org/obo/NCIT_C177537

http://purl.obolibrary.org/obo/NCIT_C177516

http://purl.obolibrary.org/obo/NCIT_C116977

http://purl.obolibrary.org/obo/NCIT_C177281

http://purl.obolibrary.org/obo/NCIT_C165258

http://purl.obolibrary.org/obo/NCIT_C118168

http://purl.obolibrary.org/obo/NCIT_C157711
Is_Value_For_GDC_Property

http://purl.obolibrary.org/obo/NCIT_C17103

http://purl.obolibrary.org/obo/NCIT_C16457
label

Ataxia Telangiectasia Syndrome
Legacy Concept Name

Ataxia_Telangiectasia_Syndrome
Maps_To

Ataxia-telangiectasia
Preferred_Name

Ataxia Telangiectasia Syndrome
prefixIRI

NCIT:C2887
prefLabel

Ataxia Telangiectasia Syndrome
Related_To_Genetic_Biomarker

http://purl.obolibrary.org/obo/NCIT_C18583
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0004135
subClassOf

http://purl.obolibrary.org/obo/NCIT_C84348

http://purl.obolibrary.org/obo/NCIT_C27871

http://purl.obolibrary.org/obo/NCIT_C7757
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