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Charcot-Marie-Tooth Disease

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

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)

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Synonyms

Atrophie, muskuläre, peroneale (DE), Charcot Marie Tooth Disease, Type 1B, Erbliche Typ I motorische und sensorische Neuropathie (DE), Charcot Marie Tooth Disease, Type 1A, Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1B, Charcot-Marie Disease, HMSN I, Areflexic Dystasias, Hereditary, Muskuläre Atrophie, peroneale (DE), HMSN1A, HMSN1B, Peroneal Muscular Atrophies, Charcot Marie Tooth Disease, Type II, Hereditary Motor And Sensory Neuropathy IB, Atrophy, Peroneal Muscular, Roussy-Lévy-Syndrom (DE), Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1A, Charcot Marie Tooth Disease, Type I, Atrophies, Peroneal Muscular, HMSN Typ II (DE), Charcot Marie Tooth Neuropathy, Type 1B, Dystasias, Hereditary Areflexic, Charcot Marie Tooth Neuropathy, Type 1A, Hereditary Areflexic Dystasia, Charcot-Marie-Krankheit (DE), Hereditary Areflexic Dystasias, Roussy-Levy Hereditary Areflexic Dystasia, HMSN Typ I (DE), Hereditary Neuropathy, Charcot-Marie-Tooth, Charcot Marie Tooth Disease, Type IB, Charcot Marie Tooth Disease, Type IA, Erbliche Typ II motorische und sensorische Neuropathie (DE), Hereditary Motor, and Sensory Neuropathy Type I, HMSN Type I, Charcot-Marie-Tooth Neuropathy, Type 1B, Charcot-Marie-Tooth Disease, Type II, Charcot-Marie-Tooth Neuropathy, Type 1A, Peroneal Muscular Atrophy, Peroneale Muskelatrophie (DE), Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy, Charcot-Marie-Tooth Disease, Type IA, Syndrome, Roussy-Levy, Charcot-Marie-Tooth Disease, Type IB, Roussy-Levy Syndrome, HMSN IB, Charcot-Marie-Tooth Syndrome, HMSN IA, Charcot-Marie-Tooth Disease, Type 1A, Hereditary Motor and Sensory-Neuropathy Type II, Areflexic Dystasia, Hereditary, Charcot-Marie-Tooth Disease, Type 1B, Roussy Levy Syndrome, Charcot-Marie-Tooth Disease, Demyelinating, Type 1B, Charcot-Marie-Tooth Disease, Demyelinating, Type 1A, HMN Distal Type I, HMSN Type II, Neuropathie, Typ II, erbliche motorische und sensorische (DE), Charcot Marie Tooth Hereditary Neuropathy, Neuropathie, Typ I, erbliche motorische und sensorische (DE), Charcot Marie Tooth Syndrome, Muscular Atrophy, Peroneal, Hereditary Type I Motor and Sensory Neuropathy, Roussy-Levy Disease, Charcot Marie Disease, Neuropathy, Type II Hereditary Motor and Sensory, Hereditary Motor and Sensory Neuropathy 1B, Roussy Levy Disease, Hereditary Motor and Sensory Neuropathy 1A, Neuropathy, Type I Hereditary Motor and Sensory, Hereditary Motor and Sensory Neuropathy IA, Syndrome, Charcot-Marie-Tooth, HMSN 1B, Charcot-Marie-Tooth-Krankheit (DE), HMSN 1A, Charcot Marie Tooth Disease, Charcot-Marie-Tooth Disease, Type I, Charcot-Marie-Tooth Hereditary Neuropathy, Muscular Atrophies, Peroneal, Roussy Levy Hereditary Areflexic Dystasia, Atrophy, Muscular, Peroneal, HMSN II, Hereditary Motor and Sensory Neuropathy Type II, Dystasia, Hereditary Areflexic

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

19910101

D018993

2000(1966)

MDA

19991108

MMR

20130708

C10.574.500.495.200,C16.131.666.300.200,C10.500.300.200,C16.320.400.375.200,C10.668.829.800.300.200

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

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/D051767,http://purl.bioontology.org/ontology/MESH/D018993

SIB

http://purl.bioontology.org/ontology/MESH/D012035,http://purl.bioontology.org/ontology/MESH/D056769,http://purl.bioontology.org/ontology/MESH/D056768,http://purl.bioontology.org/ontology/MESH/D015419

TERMUI

T007589,T845634,T845635,T845636,T812090,T845638,T845639,T782910,T782118,T371951,T751170,T371952,T782911,T782119,T744354,T782909,T045520,T845643,T782120,T845644,T845723,T845646,T845724,T845725,T812266,T371960,T371963,T371964,T744349,T371955,T371956,T751169,T371957,T751168,T371958,T371959,T007591,T007592,T007590,T841102,T007595,T007593,T845642,T841101,T007594

NLM (1991),GHR (2014),ORD (2010),OMIM (2013),NLM (2000),NLM (2010),UNK (19XX),NLM (2014),NLM (1975),NLM (2012)

cui

C0270911,C0007959,C0270912,C0205713,C0270914,C0751036

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C535401,http://purl.bioontology.org/ontology/MESH/C537987,http://purl.bioontology.org/ontology/MESH/C537986,http://purl.bioontology.org/ontology/MESH/C537989,http://purl.bioontology.org/ontology/MESH/C563757,http://purl.bioontology.org/ontology/MESH/C537988,http://purl.bioontology.org/ontology/MESH/C564446,http://purl.bioontology.org/ontology/MESH/C564325,http://purl.bioontology.org/ontology/MESH/C566984,http://purl.bioontology.org/ontology/MESH/C565261,http://purl.bioontology.org/ontology/MESH/C537994,http://purl.bioontology.org/ontology/MESH/C537993,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/C535416,http://purl.bioontology.org/ontology/MESH/C535417,http://purl.bioontology.org/ontology/MESH/C535418,http://purl.bioontology.org/ontology/MESH/C535419,http://purl.bioontology.org/ontology/MESH/C535413,http://purl.bioontology.org/ontology/MESH/C564879,http://purl.bioontology.org/ontology/MESH/C535415,http://purl.bioontology.org/ontology/MESH/C566138,http://purl.bioontology.org/ontology/MESH/C566137,http://purl.bioontology.org/ontology/MESH/C563740,http://purl.bioontology.org/ontology/MESH/C566136,http://purl.bioontology.org/ontology/MESH/C565761,http://purl.bioontology.org/ontology/MESH/C535420,http://purl.bioontology.org/ontology/MESH/C535421,http://purl.bioontology.org/ontology/MESH/C535422,http://purl.bioontology.org/ontology/MESH/C535301,http://purl.bioontology.org/ontology/MESH/C536153,http://purl.bioontology.org/ontology/MESH/C564704,http://purl.bioontology.org/ontology/MESH/C535423,http://purl.bioontology.org/ontology/MESH/C535302,http://purl.bioontology.org/ontology/MESH/C535303,http://purl.bioontology.org/ontology/MESH/C564702,http://purl.bioontology.org/ontology/MESH/C564703,http://purl.bioontology.org/ontology/MESH/C567653,http://purl.bioontology.org/ontology/MESH/C535399,http://purl.bioontology.org/ontology/MESH/C539595,http://purl.bioontology.org/ontology/MESH/C535716,http://purl.bioontology.org/ontology/MESH/C535919,http://purl.bioontology.org/ontology/MESH/C564333,http://purl.bioontology.org/ontology/MESH/C564256,http://purl.bioontology.org/ontology/MESH/C564179,http://purl.bioontology.org/ontology/MESH/C564257,http://purl.bioontology.org/ontology/MESH/C563561,http://purl.bioontology.org/ontology/MESH/C537985,http://purl.bioontology.org/ontology/MESH/C537984,http://purl.bioontology.org/ontology/MESH/C535400,http://purl.bioontology.org/ontology/MESH/C538078,http://purl.bioontology.org/ontology/MESH/C536450,http://purl.bioontology.org/ontology/MESH/C538077,http://purl.bioontology.org/ontology/MESH/C538079

tui

T047

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