Medical Subject Headings

Last uploaded: November 5, 2019

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	2
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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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/607736	Online Mendelian Inheritance in Man	CUI
http://purl.obolibrary.org/obo/DOID_0110157	Human Disease Ontology 123	LOOM
http://purl.bioontology.org/ontology/OMIM/159440	Online Mendelian Inheritance in Man	CUI