Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Charcot-Marie-Tooth disease and deafness
Synonyms	Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers Deafness with Charcot-Marie-Tooth Disease
ID	http://purl.bioontology.org/ontology/MESH/C538078
altLabel	Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers Deafness with Charcot-Marie-Tooth Disease
cui	C1861669
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	0
MMR	20121201
notation	C538078
prefLabel	Charcot-Marie-Tooth disease and deafness
SC	3
TERMUI	T831891 T744675 T831890
TH	OMIM (2013) NLM (2010)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/214370	OMIM	CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C538078	RH-MESH	LOOM
http://purl.bioontology.org/ontology/OMIM/118300	OMIM	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15237	DERMLEX	LOOM