DOID:0110183
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Charcot-Marie-Tooth disease type 4C
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Aliases:
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CMT4C
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Charcot-Marie-Tooth neuropathy type 4C
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autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C
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Homo sapiens (human)
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DOID:0110187
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Charcot-Marie-Tooth disease type 4K
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Aliases:
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CMT4K
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SURF1-related CMT4
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SURF1-related Charcot-Marie-Tooth disease type 4
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SURF1-related severe demyelinating Charcot-Marie-Tooth disease
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autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K
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autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K
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Homo sapiens (human)
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DOID:0110199
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Charcot-Marie-Tooth disease dominant intermediate C
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Aliases:
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CMTDIC
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Charcot-Marie-Tooth neuropathy dominant intermediate C
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DI-CMTC
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autosomal dominant intermediate Charcot-Marie-Tooth disease type C
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Homo sapiens (human)
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DOID:0110150
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Charcot-Marie-Tooth disease type 1D
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Aliases:
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CMT1D
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Charcot-Marie-Tooth neuropathy type 1D
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HMSN ID
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HMSN1D
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hereditary motor and sensory neuropathy 1D
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Homo sapiens (human)
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DOID:0110163
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Charcot-Marie-Tooth disease axonal type 2F
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Aliases:
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CMT2F
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Charcot-Marie-Tooth neuronal type 2F
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Charcot-Marie-Tooth neuropathy type 2F
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autosomal dominant Charcot-Marie-Tooth disease type 2F
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Homo sapiens (human)
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DOID:0110161
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Charcot-Marie-Tooth disease type 2R
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Aliases:
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CMT2R
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Charcot-Marie-Tooth neuropathy type 2R
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autosomal recessive axonal Charcot-Marie-Tooth disease type 2R
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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: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:0110204
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Charcot-Marie-Tooth disease recessive intermediate B
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Aliases:
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CMTRIB
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Charcot-Marie-Tooth neuropathy recessive intermediate B
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RI-CMTB
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autosomal recessive intermediate Charcot-Marie-Tooth disease type B
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Homo sapiens (human)
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DOID:0110198
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Charcot-Marie-Tooth disease recessive intermediate C
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Aliases:
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CMTRIC
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RI-CMT type C
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RI-CMTC
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autosomal recessive intermediate Charcot-Marie-Tooth disease type C
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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:0110153
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Charcot-Marie-Tooth disease type 1E
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Aliases:
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CMT1E
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Charcot-Marie-Tooth disease and deafness
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Charcot-Marie-Tooth disease demyelinating type 1E
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Charcot-Marie-Tooth disease-deafness
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autosomal dominant Charcot-Marie-Tooth neuropathy and deafness
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Homo sapiens (human)
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DOID:0110155
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Charcot-Marie-Tooth disease type 2A2A
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Aliases:
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CMT2A2A
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Charcot-Marie-Tooth neuronal type 2A2
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Charcot-Marie-Tooth neuropathy type 2A2
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HMSN IIA2
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HMSN2A2
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autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2
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hereditary motor and sensory neuropathy IIA2
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Homo sapiens (human)
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DOID:0110156
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Charcot-Marie-Tooth disease type 2B1
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Aliases:
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CMT2B1
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Charcot-Marie-Tooth disease neuronal type 2B1
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Charcot-Marie-Tooth neuropathy type 2B1
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autosomal recessive Charcot-Marie-Tooth disease type 2B1
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autosomal recessive axonal CMT4C1
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autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1
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Homo sapiens (human)
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DOID:0110173
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Charcot-Marie-Tooth disease axonal type 2U
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Aliases:
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CMT2U
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Charcot-Marie-Tooth neuropathy type 2U
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autosomal dominant Charcot-Marie-Tooth disease type 2U
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autosomal dominant axonal Charcot-Marie-Tooth disease type 2U
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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:0110168
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Charcot-Marie-Tooth disease type 2Y
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Aliases:
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CMT2 due to VCP mutation
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CMT2Y
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Charcot-Marie-Tooth neuropathy type 2Y
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autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
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autosomal dominant axonal Charcot-Marie-Tooth type 2Y
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Homo sapiens (human)
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DOID:0110212
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Charcot-Marie-Tooth disease X-linked recessive 4
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Aliases:
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CMT4X
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CMTX4
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Charcot-Marie-Tooth disease with deafness and mental retardation
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Cowchock syndrome
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NADMR
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NAMSD
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X-linked Charcot-Marie-Tooth disease type 4
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axonal motor sensory neuropathy with deafness and mental retardation
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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:0110206
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Charcot-Marie-Tooth disease dominant intermediate F
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Aliases:
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CMTDIF
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autosomal dominant intermediate Charcot-Marie-Tooth disease type F
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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:0110165
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Charcot-Marie-Tooth disease type 2E
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Aliases:
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CMT2E
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Charcot-Marie-Tooth neuropathy type 2E
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autosomal dominant Charcot-Marie-Tooth disease type 2E
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Homo sapiens (human)
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DOID:0110160
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Charcot-Marie-Tooth disease axonal type 2T
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Aliases:
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AR-CMT2T
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CMT2T
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Charcot-Marie-Tooth neuropathy type 2T
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autosomal recessive axonal Charcot-Marie-Tooth disease type 2T
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Homo sapiens (human)
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DOID:0110208
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Charcot-Marie-Tooth disease X-linked recessive 2
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Aliases:
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CMTX2
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Charcot-Marie-Tooth neuropathy X-linked recessive 2
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X-linked Charcot-Marie-Tooth disease type 2
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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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