Nanbyo Disease Ontology

Last uploaded: February 27, 2024
Preferred Name

Charcot-Marie-Tooth disease

Synonyms

CMT

ID

http://nanbyodata.jp/ontology/NANDO_1200016

description

シャルコー・マリー・トゥース病(Charcot-Marie-Tooth disease:CMT)は、臨床症状、電気生理学的検査所見、神経病理所見に基づいて、脱髄型、軸索型、中間型に大別され、さらにいくつかのサブタイプに分けられる。脱髄型CMTでは、一般的に神経伝導速度は38m/s以下、活動電位はほぼ正常又は軽度低下を示し、腓腹神経所見では節性脱髄、onion bulb の形成を認める。軸索型CMTでは、神経伝導速度は正常または軽度低下を示すが、活動電位は明らかに低下し、腓腹神経所見では有髄線維の著明な減少を示す。いずれとも分けられない場合は、中間型CMTとしている。原因遺伝子が次々と明らかになり、その病態の解明が進んでいる。

altLabel

CMT

closeMatch

http://purl.obolibrary.org/obo/MONDO_0015626

identifier

NANDO:1200016

label

Charcot-Marie-Tooth disease

しゃるこー・まりー・とぅーすびょう

シャルコー・マリー・トゥース病

prefLabel

Charcot-Marie-Tooth disease

seeAlso

https://www.nanbyou.or.jp/entry/3774

https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00264

https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157714.docx

source

https://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/010-201704-kojin.pdf

告示番号

10

subClassOf

http://nanbyodata.jp/ontology/NANDO_1100001

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http://purl.obolibrary.org/obo/MONDO_0015626 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0015626 EFO LOOM
http://purl.obolibrary.org/obo/DOID_10595 DOID LOOM
http://purl.obolibrary.org/obo/HIO_0000038 HIO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.668.829.800.300.200 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D002607 MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_637 HRDO LOOM
http://purl.obolibrary.org/obo/NCIT_C75467 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.666.300.200 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.500.300.200 RH-MESH LOOM
http://purl.jp/bio/4/id/200906052625585763 IOBC LOOM
http://localhost/plosthes.2017-1#11574 PLOSTHES LOOM
http://purl.obolibrary.org/obo/OMIT_0003933 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.375.200 RH-MESH LOOM
http://uri.neuinfo.org/nif/nifstd/nlx_dys_100316 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/nlx_dys_100316 NIFSTD LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Charcot-Marie-Tooth_Disease APANEUROCLUSTER LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Charcot-Marie-Tooth_Disease APAONTO LOOM
http://radlex.org/RID/RID34634 RADLEX LOOM
http://purl.bioontology.org/ontology/RCTV2/F361000 RCTV2 LOOM
http://purl.obolibrary.org/obo/DOID_10595 CLO LOOM
http://purl.obolibrary.org/obo/DOID_10595 DTO LOOM
http://purl.obolibrary.org/obo/DOID_10595 BAO LOOM
http://purl.obolibrary.org/obo/DOID_10595 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_10595 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_10595 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_10595 FNS-H LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0007959 MEDLINEPLUS LOOM
http://purl.obolibrary.org/obo/MONDO_0015626 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0015626 KTAO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.495.200 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D002607 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10008414 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75467 NCIT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038419 PMAPP-PMO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_10595 NATPRO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0007959 OCHV LOOM
http://www.gamuts.net/entity#Charcot_Marie_Tooth_disease GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#2722 OCHV LOOM