Preferred Name

Ataxia Telangiectasia

Definitions

<p>Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems. Symptoms appear in young children, usually before age 5. They include:</p><ul> <li>Ataxia - trouble coordinating <a href="https://medlineplus.gov/movementdisorders.html">movements</a></li> <li>Poor balance </li> <li>Slurred speech</li> <li>Tiny, red spider veins, called telangiectasias, on the skin and eyes</li> <li>Lung infections</li> <li>Delayed physical and sexual development</li> </ul> <p>People with A-T have an increased risk of developing diabetes and cancers, especially lymphoma and leukemia. Although it affects the brain, people with A-T usually have normal or high intelligence.</p> <p>A-T has no cure. Treatments might improve some symptoms. They include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamins. </p> <p class="">NIH: National Institute of Neurological Disorders and Stroke</p>

ID

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0004135

cui

C0004135

Date created

03/25/2004

definition

Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems. Symptoms appear in young children, usually before age 5. They include:

  • Ataxia - trouble coordinating movements
  • Poor balance
  • Slurred speech
  • Tiny, red spider veins, called telangiectasias, on the skin and eyes
  • Lung infections
  • Delayed physical and sexual development

People with A-T have an increased risk of developing diabetes and cancers, especially lymphoma and leukemia. Although it affects the brain, people with A-T usually have normal or high intelligence.

A-T has no cure. Treatments might improve some symptoms. They include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamins.

NIH: National Institute of Neurological Disorders and Stroke

Mapped from

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0004135

Mapped to

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0004135

MP OTHER LANGUAGE URL

Spanish https://medlineplus.gov/spanish/ataxiatelangiectasia.html

MP PRIMARY INSTITUTE URL

National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/

notation

C0004135

prefLabel

Ataxia Telangiectasia

Related to

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0007760

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0026650

Scope Statement

Ataxia Telangiectasia (AT) is an inherited disease that affects several body systems, including the nervous system and immune system. Discover more.https://medlineplus.gov/ataxiatelangiectasia.html

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MEDLINEPLUS/C1456603

http://purl.bioontology.org/ontology/MEDLINEPLUS/C2362500

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http://purl.obolibrary.org/obo/MONDO_0008840 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0008840 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MESH/D001260 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D001260 Medical Subject Headings / 医学主题词表 LOOM
http://www.orpha.net/ORDO/Orphanet_100 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://www.orpha.net/ORDO/Orphanet_100 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/OMIM/208900 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/208900 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/OMIM/607585 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.obolibrary.org/obo/DOID_12704 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_12704 Human Disease Ontology / 人类疾病本体 LOOM