Preferred Name

Friedreich Ataxia

Definitions

<p>Friedreich ataxia is an inherited disease that damages your nervous system. The damage affects your spinal cord and the nerves that control muscle movement in your arms and legs. Symptoms usually begin between the ages of 5 and 15. The main symptom is ataxia, which means trouble coordinating movements. Specific symptoms include:</p><ul> <li>Difficulty walking</li> <li> Muscle weakness</li> <li> Speech problems</li> <li> Involuntary eye movements</li> <li> Scoliosis (curving of the spine to one side)</li> <li> Heart palpitations, from the heart disease which can happen along with Friedreich ataxia</li> </ul> <p>People with Friedreich ataxia usually need a wheelchair 15 to 20 years after symptoms first appear. In severe cases, people become incapacitated. There is no cure. You can treat symptoms with medicines, braces, surgery, and physical therapy.</p> <p class="">NIH: National Institute of Neurological Disorders and Stroke</p>

ID

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0016719

cui

C0016719

Date created

04/18/2006

definition

Friedreich ataxia is an inherited disease that damages your nervous system. The damage affects your spinal cord and the nerves that control muscle movement in your arms and legs. Symptoms usually begin between the ages of 5 and 15. The main symptom is ataxia, which means trouble coordinating movements. Specific symptoms include:

  • Difficulty walking
  • Muscle weakness
  • Speech problems
  • Involuntary eye movements
  • Scoliosis (curving of the spine to one side)
  • Heart palpitations, from the heart disease which can happen along with Friedreich ataxia

People with Friedreich ataxia usually need a wheelchair 15 to 20 years after symptoms first appear. In severe cases, people become incapacitated. There is no cure. You can treat symptoms with medicines, braces, surgery, and physical therapy.

NIH: National Institute of Neurological Disorders and Stroke

Inverse of RQ

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0004134

Mapped from

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0016719

Mapped to

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0016719

MP OTHER LANGUAGE URL

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

MP PRIMARY INSTITUTE URL

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

notation

C0016719

prefLabel

Friedreich Ataxia

Related to

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

http://purl.bioontology.org/ontology/MEDLINEPLUS/C1456654

Scope Statement

Friedreich ataxia (FA) is an inherited disease that damages your nervous system. Symptoms usually begin between ages 5 and 15. Learn the symptoms.https://medlineplus.gov/friedreichataxia.html

tui

T047

subClassOf

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

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

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http://purl.bioontology.org/ontology/OMIM/606829 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://www.orpha.net/ORDO/Orphanet_95 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84718 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.obolibrary.org/obo/MONDO_0100339 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0100339 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/OMIM/229300 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/229300 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/8A03.10 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China LOOM
http://purl.obolibrary.org/obo/DOID_12705 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_12705 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/ICD10CM/G11.11 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/ICD10CM/G11.11 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 LOOM
http://purl.bioontology.org/ontology/MESH/D005621 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D005621 Medical Subject Headings / 医学主题词表 LOOM