Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023
Preferred Name

Charcot-Marie-Tooth disease, Type 2J

Synonyms

Charcot-Marie-Tooth disease, axonal, Type 2J

ID

http://purl.bioontology.org/ontology/MESH/C535417

altLabel

Charcot-Marie-Tooth disease, axonal, Type 2J

Charcot-Marie-Tooth Neuropathy, Type 2j

Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities

Cmt2j

CMT 2J

cui

C1843153

HM

D006319

D002607

Inverse of RB

0

Mapped to

http://purl.bioontology.org/ontology/MESH/D002607

http://purl.bioontology.org/ontology/MESH/D006319

MDA

20100825

MeSH Frequency

3

MMR

20120824

notation

C535417

prefLabel

Charcot-Marie-Tooth disease, Type 2J

SC

3

TERMUI

T735989

T804681

T828171

T804680

T735990

T735987

TH

ORD (2010)

OMIM (2013)

tui

T047

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http://purl.obolibrary.org/obo/MONDO_0011903 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0011903 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/OMIM/607736 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.obolibrary.org/obo/DOID_0110157 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/159440 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI