Medical Subject Headings

Last uploaded: January 31, 2024

Preferred Name	Charcot-Marie-Tooth disease, Type 2J
Synonyms	Charcot-Marie-Tooth Neuropathy, Type 2j Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities Cmt2j CMT 2J Charcot-Marie-Tooth disease, axonal, Type 2J
ID	http://purl.bioontology.org/ontology/MESH/C535417
altLabel	Charcot-Marie-Tooth Neuropathy, Type 2j Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities Cmt2j CMT 2J Charcot-Marie-Tooth disease, axonal, Type 2J
cui	C1843153
HM	D002607 D006319
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	T804680 T735990 T804681 T735989 T735987 T828171
TH	OMIM (2013) ORD (2010)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/159440	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/607736	OMIM	CUI
http://purl.bioontology.org/ontology/SCTSPA/717014003	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/717014003	SNOMEDCT	CUI
http://purl.obolibrary.org/obo/DOID_0110157	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0110157	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0011903	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_0110157	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0110157	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0110157	FNS-H	LOOM
http://purl.obolibrary.org/obo/MONDO_0011903	DOVES	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535417	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0011903	EFO	LOOM