Medical Subject Headings

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/MESH/D002607 http://purl.bioontology.org/ontology/MESH/D002607
Preferred Name	Charcot-Marie-Tooth Disease
Definitions	A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)
Synonyms	Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy Charcot-Marie-Tooth Disease, Type II Neuropathy, Type II Hereditary Motor and Sensory HMSN 1B Atrophy, Peroneal Muscular Charcot Marie Tooth Syndrome Hereditary Type I Motor and Sensory Neuropathy HMSN Type II Dystasia, Hereditary Areflexic Charcot-Marie-Tooth Disease, Type I HMSN Type I Hereditary Motor And Sensory Neuropathy IB Syndrome, Charcot-Marie-Tooth HMSN 1A Roussy Levy Hereditary Areflexic Dystasia Charcot Marie Tooth Disease, Type II Muscular Atrophy, Peroneal Hereditary Motor, and Sensory Neuropathy Type I Hereditary Motor and Sensory Neuropathy 1A Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1B Charcot Marie Tooth Disease Neuropathy, Type I Hereditary Motor and Sensory Charcot-Marie-Tooth Disease, Demyelinating, Type 1B Atrophies, Peroneal Muscular HMSN1B Charcot Marie Tooth Disease, Type 1A Charcot Marie Disease Areflexic Dystasias, Hereditary HMN Distal Type I Charcot Marie Tooth Disease, Type I Hereditary Motor and Sensory-Neuropathy Type II Syndrome, Roussy-Levy Charcot-Marie Disease Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1A Atrophy, Muscular, Peroneal Hereditary Motor and Sensory Neuropathy Type II Roussy Levy Disease HMSN IB Peroneal Muscular Atrophies Charcot Marie Tooth Disease, Type IB Hereditary Areflexic Dystasia HMSN1A Hereditary Motor and Sensory Neuropathy 1B Areflexic Dystasia, Hereditary Charcot-Marie-Tooth Disease, Demyelinating, Type 1A Charcot-Marie-Tooth Neuropathy, Type 1A Charcot Marie Tooth Disease, Type 1B Charcot-Marie-Tooth Disease, Type IA Roussy Levy Syndrome HMSN IA Hereditary Areflexic Dystasias Peroneal Muscular Atrophy Charcot Marie Tooth Neuropathy, Type 1A Charcot-Marie-Tooth Syndrome Dystasias, Hereditary Areflexic Roussy-Levy Syndrome HMSN II Charcot-Marie-Tooth Disease, Type 1A Charcot-Marie-Tooth Disease, Type 1B Charcot Marie Tooth Hereditary Neuropathy Roussy-Levy Hereditary Areflexic Dystasia Charcot-Marie-Tooth Hereditary Neuropathy HMSN I Muscular Atrophies, Peroneal Roussy-Levy Disease Charcot Marie Tooth Neuropathy, Type 1B Hereditary Motor and Sensory Neuropathy IA Hereditary Neuropathy, Charcot-Marie-Tooth Charcot Marie Tooth Disease, Type IA Charcot-Marie-Tooth Neuropathy, Type 1B Charcot-Marie-Tooth Disease, Type IB See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)
altLabel	Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy Charcot-Marie-Tooth Disease, Type II Neuropathy, Type II Hereditary Motor and Sensory HMSN 1B Atrophy, Peroneal Muscular Charcot Marie Tooth Syndrome Hereditary Type I Motor and Sensory Neuropathy HMSN Type II Dystasia, Hereditary Areflexic Charcot-Marie-Tooth Disease, Type I HMSN Type I Hereditary Motor And Sensory Neuropathy IB Syndrome, Charcot-Marie-Tooth HMSN 1A Roussy Levy Hereditary Areflexic Dystasia Charcot Marie Tooth Disease, Type II Muscular Atrophy, Peroneal Hereditary Motor, and Sensory Neuropathy Type I Hereditary Motor and Sensory Neuropathy 1A Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1B Charcot Marie Tooth Disease Neuropathy, Type I Hereditary Motor and Sensory Charcot-Marie-Tooth Disease, Demyelinating, Type 1B Atrophies, Peroneal Muscular HMSN1B Charcot Marie Tooth Disease, Type 1A Charcot Marie Disease Areflexic Dystasias, Hereditary HMN Distal Type I Charcot Marie Tooth Disease, Type I Hereditary Motor and Sensory-Neuropathy Type II Syndrome, Roussy-Levy Charcot-Marie Disease Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1A Atrophy, Muscular, Peroneal Hereditary Motor and Sensory Neuropathy Type II Roussy Levy Disease HMSN IB Peroneal Muscular Atrophies Charcot Marie Tooth Disease, Type IB Hereditary Areflexic Dystasia HMSN1A Hereditary Motor and Sensory Neuropathy 1B Areflexic Dystasia, Hereditary Charcot-Marie-Tooth Disease, Demyelinating, Type 1A Charcot-Marie-Tooth Neuropathy, Type 1A Charcot Marie Tooth Disease, Type 1B Charcot-Marie-Tooth Disease, Type IA Roussy Levy Syndrome HMSN IA Hereditary Areflexic Dystasias Peroneal Muscular Atrophy Charcot Marie Tooth Neuropathy, Type 1A Charcot-Marie-Tooth Syndrome Dystasias, Hereditary Areflexic Roussy-Levy Syndrome HMSN II Charcot-Marie-Tooth Disease, Type 1A Charcot-Marie-Tooth Disease, Type 1B Charcot Marie Tooth Hereditary Neuropathy Roussy-Levy Hereditary Areflexic Dystasia Charcot-Marie-Tooth Hereditary Neuropathy HMSN I Muscular Atrophies, Peroneal Roussy-Levy Disease Charcot Marie Tooth Neuropathy, Type 1B Hereditary Motor and Sensory Neuropathy IA Hereditary Neuropathy, Charcot-Marie-Tooth Charcot Marie Tooth Disease, Type IA Charcot-Marie-Tooth Neuropathy, Type 1B Charcot-Marie-Tooth Disease, Type IB See more See less
prefLabel	Charcot-Marie-Tooth Disease
TH	OMIM (2013) NLM (2000) NLM (1991) NLM (2012) NLM (1975) UNK (19XX) NLM (2010) GHR (2014) NLM (2014) ORD (2010) See more See less
notation	D002607
DX	19910101
Machine permutation	2000; see CHARCOT-MARIE DISEASE 1991-1999, see MUSCULAR ATROPHY, SPINAL 1988-1990, see MUSCULAR ATROPHY 1966-1987; for CHARCOT-MARIE-TOOTH DISEASE see CHARCOT-MARIE DISEASE 1991-1999
MN	C16.131.666.300.200 C10.574.500.495.200 C16.320.400.375.200 C10.668.829.800.300.200 C10.500.300.200
FX	D018993
MMR	20130708
Mapped from	http://purl.bioontology.org/ontology/MESH/C535399 http://purl.bioontology.org/ontology/MESH/C538079 http://purl.bioontology.org/ontology/MESH/C538078 http://purl.bioontology.org/ontology/MESH/C538077 http://purl.bioontology.org/ontology/MESH/C566138 http://purl.bioontology.org/ontology/MESH/C566136 http://purl.bioontology.org/ontology/MESH/C566137 http://purl.bioontology.org/ontology/MESH/C564179 http://purl.bioontology.org/ontology/MESH/C564325 http://purl.bioontology.org/ontology/MESH/C563740 http://purl.bioontology.org/ontology/MESH/C537993 http://purl.bioontology.org/ontology/MESH/C537994 http://purl.bioontology.org/ontology/MESH/C537990 http://purl.bioontology.org/ontology/MESH/C537992 http://purl.bioontology.org/ontology/MESH/C537991 http://purl.bioontology.org/ontology/MESH/C565761 http://purl.bioontology.org/ontology/MESH/C564703 http://purl.bioontology.org/ontology/MESH/C564702 http://purl.bioontology.org/ontology/MESH/C564704 http://purl.bioontology.org/ontology/MESH/C535400 http://purl.bioontology.org/ontology/MESH/C535401 http://purl.bioontology.org/ontology/MESH/C564257 http://purl.bioontology.org/ontology/MESH/C564256 http://purl.bioontology.org/ontology/MESH/C567653 http://purl.bioontology.org/ontology/MESH/C565261 http://purl.bioontology.org/ontology/MESH/C535418 http://purl.bioontology.org/ontology/MESH/C535416 http://purl.bioontology.org/ontology/MESH/C535413 http://purl.bioontology.org/ontology/MESH/C535415 http://purl.bioontology.org/ontology/MESH/C535417 http://purl.bioontology.org/ontology/MESH/C535419 http://purl.bioontology.org/ontology/MESH/C535919 http://purl.bioontology.org/ontology/MESH/C564446 http://purl.bioontology.org/ontology/MESH/C564333 http://purl.bioontology.org/ontology/MESH/C566984 http://purl.bioontology.org/ontology/MESH/C536153 http://purl.bioontology.org/ontology/MESH/C535422 http://purl.bioontology.org/ontology/MESH/C535420 http://purl.bioontology.org/ontology/MESH/C535423 http://purl.bioontology.org/ontology/MESH/C535421 http://purl.bioontology.org/ontology/MESH/C535716 http://purl.bioontology.org/ontology/MESH/C536450 http://purl.bioontology.org/ontology/MESH/C564879 http://purl.bioontology.org/ontology/MESH/C563757 http://purl.bioontology.org/ontology/MESH/C539595 http://purl.bioontology.org/ontology/MESH/C563561 http://purl.bioontology.org/ontology/MESH/C537987 http://purl.bioontology.org/ontology/MESH/C537984 http://purl.bioontology.org/ontology/MESH/C537988 http://purl.bioontology.org/ontology/MESH/C537989 http://purl.bioontology.org/ontology/MESH/C537985 http://purl.bioontology.org/ontology/MESH/C537986 http://purl.bioontology.org/ontology/MESH/C535301 http://purl.bioontology.org/ontology/MESH/C535303 http://purl.bioontology.org/ontology/MESH/C535302 See more See less
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
HN	2000(1966)
subClassOf	http://purl.bioontology.org/ontology/MESH/D015417
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
DC	1
MDA	19991108
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D018993 http://purl.bioontology.org/ontology/MESH/D051767
type	http://www.w3.org/2002/07/owl#Class
tui	T047
cui	C0270912 C0205713 C0751036 C0270914 C0007959 C0270911 See more See less
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401 See more See less
TERMUI	T751168 T371955 T782909 T782119 T845724 T845635 T845639 T845638 T744349 T371960 T371951 T845646 T782118 T751169 T371956 T371964 T845643 T045520 T841102 T782120 T812090 T782910 T007591 T007595 T007590 T007589 T812266 T782911 T845644 T371963 T744354 T007592 T751170 T007594 T845725 T845723 T371959 T841101 T007593 T371957 T845642 T845634 T371952 T845636 T371958 See more See less

Add comment

Add proposal

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display