DOID:5757
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Homo sapiens (human)
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DOID:2253
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Homo sapiens (human)
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DOID:10595
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Charcot-Marie-Tooth disease
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Aliases:
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CMT - Charcot-Marie-Tooth disease
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Homo sapiens (human)
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DOID:0110148
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Charcot-Marie-Tooth disease type 1A
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Aliases:
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CMT1A
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Charcot-Marie-Tooth neuropathy type 1A
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HMSN1A
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autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A
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hereditary motor and sensory neuropathy 1A
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microduplication 17p12
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Homo sapiens (human)
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DOID:0110152
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Charcot-Marie-Tooth disease type 1B
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Aliases:
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CMT1B
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Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy
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Charcot-Marie-Tooth neuropathy type 1B
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HMSN IB
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HMSN1B
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autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B
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hereditary motor and sensory neuropathy IB
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peroneal muscular atrophy
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Homo sapiens (human)
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DOID:0110209
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Charcot-Marie-Tooth disease X-linked dominant 1
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Aliases:
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CMT1X
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CMTX1
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Charcot-Marie-Tooth neuropathy X-linked dominant 1
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X-linked Charcot-Marie-Tooth disease type 1
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Homo sapiens (human)
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DOID:0060843
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hereditary neuropathy with liability to pressure palsies
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Aliases:
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HNPP
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current pressure-sensitive neuropathy
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familial recurrent polyneuropathy
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heterozygous microdeletion 17p11.2p12
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potato-grubbing palsy
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tomaculous neuropathy
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tulip-bulb digger's palsy
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Homo sapiens (human)
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DOID:0090003
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agenesis of the corpus callosum with peripheral neuropathy
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Aliases:
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Andermann syndrome
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Charlevoix disease
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corpus callosum agenesis-neuronopathy syndrome
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Homo sapiens (human)
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DOID:0060600
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obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum
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Homo sapiens (human)
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DOID:0110191
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Charcot-Marie-Tooth disease type 4B1
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Aliases:
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CMT4B1
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Charcot-Marie-Tooth neuropathy type 4B1
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autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1
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Homo sapiens (human)
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DOID:0110159
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Charcot-Marie-Tooth disease type 2B
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Aliases:
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CMT2B
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Charcot-Marie-Tooth neuropathy type 2B
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HMSN IIB
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HMSN2B
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autosomal dominant Charcot-Marie-Tooth disease type 2B
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hereditary motor and sensory nueropathy IIB
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Homo sapiens (human)
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DOID:0110210
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Charcot-Marie-Tooth disease X-linked recessive 5
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Aliases:
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CMT5X
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CMTX5
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Charcot-Marie-Tooth neuropathy X-linked recessive 5
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Rosenberg-Chutorian syndrome
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X-linked Charcot-Marie-Tooth disease type 5
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optic atrophy, polyneuropathy, and deafness
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Homo sapiens (human)
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DOID:0110196
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Charcot-Marie-Tooth disease type 4G
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Aliases:
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CMT4G
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Charcot-Marie-Tooth neuropathy type 4G
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HMSNR
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autosomal recessive Charcot-Marie-Tooth disease type 4G
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hereditary motor and sensory neuropathy Russe type
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Homo sapiens (human)
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DOID:0110190
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Charcot-Marie-Tooth disease type 4B2
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Aliases:
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CMT4B2
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Charcot-Marie-Tooth neuropathy type 4B2
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autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2
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Homo sapiens (human)
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DOID:0110184
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Charcot-Marie-Tooth disease type 4J
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Aliases:
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CMT4J
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autosomal recessive Charcot-Marie-Tooth disease type 4J
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Homo sapiens (human)
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DOID:0110170
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Charcot-Marie-Tooth disease axonal type 2Q
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Aliases:
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CMT2Q
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Charcot-Marie-Tooth neuropathy type 2Q
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autosomal dominant Charcot-Marie-Tooth disease type 2Q
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autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q
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Homo sapiens (human)
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DOID:0110195
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Charcot-Marie-Tooth disease type 4E
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Aliases:
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CMT4E
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Charcot-Marie-Tooth neuropathy type 4E
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Neuropathy, congenital hypomyelinating, 1
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autosomal recessive congenital hypomyelinating or amyelinating neuropathy
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Homo sapiens (human)
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DOID:2477
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motor peripheral neuropathy
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Aliases:
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HSMN
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HSMN - Hereditary sensory and motor neuropathy
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Hereditary motor and sensory neuropathy
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Peripheral Motor Neuropathy
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neuropathic muscular atrophy
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Homo sapiens (human)
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DOID:0110202
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Charcot-Marie-Tooth disease dominant intermediate A
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Aliases:
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CMTDIA
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Charcot-Marie-Tooth neuropathy dominant intermediate A
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DI-CMTA
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autosomal dominant intermediate Charcot-Marie-Tooth disease type A
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Homo sapiens (human)
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DOID:0110157
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Charcot-Marie-Tooth disease type 2J
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Aliases:
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CMT2J
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Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities
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Charcot-Marie-Tooth neuropathy type 2J
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Homo sapiens (human)
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DOID:0110166
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Charcot-Marie-Tooth disease axonal type 2H
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Aliases:
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AR-CMT2C
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Autosomal recessive axonal CMT4C2
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Axonal Charcot-Marie-Tooth disease with pyramidal involvement
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CMT2H
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Charcot-Marie-Tooth disease type 2H
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autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features
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autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features
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Homo sapiens (human)
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DOID:0110167
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Charcot-Marie-Tooth disease axonal type 2K
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Aliases:
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ARCMT2K
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Charcot-Marie-Tooth neuropathy axonal type 2K
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autosomal recessive Charcot-Marie-Tooth disease with hoarseness
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autosomal recessive axonal CMT4C4
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autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K
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autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
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Homo sapiens (human)
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DOID:0110186
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Charcot-Marie-Tooth disease type 4D
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Aliases:
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CMT4D
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Charcot-Marie-Tooth neuropathy type 4D
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HMSN Lom type
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HMSN-Lom
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HMSN4D
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HMSNL
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autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D
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hereditary motor and sensory neuropathy LOM type
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Homo sapiens (human)
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DOID:0110151
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Charcot-Marie-Tooth disease type 1C
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Aliases:
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CMT slow nerve conduction type C
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CMT1C
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Charcot-Marie-Tooth neuropathy type 1C
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HMSN IC
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HMSN1C
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neuropathy hereditary motor and sensory type 1C
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Homo sapiens (human)
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DOID:0110149
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Charcot-Marie-Tooth disease type 1F
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Aliases:
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CMT1F
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Charcot-Marie-Tooth neuropathy type 1F
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Homo sapiens (human)
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