Preferred Name

Rett Syndrome

Definitions

<p>Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to <a href="https://medlineplus.gov/autismspectrumdisorder.html">autism spectrum disorder</a>. Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop developing and even lose some skills. Symptoms include:</p><ul> <li>Loss of speech</li> <li>Loss of hand movements such as grasping</li> <li>Compulsive movements such as hand wringing</li> <li>Balance problems</li> <li>Breathing problems</li> <li>Behavior problems</li> <li>Learning problems or <a href="https://medlineplus.gov/developmentaldisabilities.html">intellectual disability</a></li> </ul> <p>Rett syndrome has no cure. You can treat some of the symptoms with medicines, surgery, and physical and speech therapy. Most people with Rett syndrome live into middle age and beyond. They will usually need care throughout their lives.</p> <p class="">NIH: National Institute of Child Health and Human Development</p>

ID

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0035372

cui

C0035372

Date created

01/17/2006

definition

Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop developing and even lose some skills. Symptoms include:

  • Loss of speech
  • Loss of hand movements such as grasping
  • Compulsive movements such as hand wringing
  • Balance problems
  • Breathing problems
  • Behavior problems
  • Learning problems or intellectual disability

Rett syndrome has no cure. You can treat some of the symptoms with medicines, surgery, and physical and speech therapy. Most people with Rett syndrome live into middle age and beyond. They will usually need care throughout their lives.

NIH: National Institute of Child Health and Human Development

Mapped from

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0035372

Mapped to

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0035372

MP OTHER LANGUAGE URL

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

MP PRIMARY INSTITUTE URL

Eunice Kennedy Shriver National Institute of Child Health and Human Development https://www.nichd.nih.gov/Pages/index.aspx

notation

C0035372

prefLabel

Rett Syndrome

Related to

http://purl.bioontology.org/ontology/MEDLINEPLUS/C1510586

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

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0008073

Scope Statement

Rett syndrome is a rare genetic disease. It causes developmental and nervous system problems, mostly in girls. Learn about symptoms and treatments.https://medlineplus.gov/rettsyndrome.html

tui

T047

subClassOf

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

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

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http://purl.bmicc.cn/ontology/ICD10CN/F84.2 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/MESH/D015518 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D015518 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/MONDO_0010726 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0010726 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/ICD10/F84.2 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/OMIM/312750 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/312750 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75488 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/OMIM/300005 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.obolibrary.org/obo/DOID_1206 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_1206 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/ICD10CM/F84.2 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://www.orpha.net/ORDO/Orphanet_778 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM