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: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: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: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:0110192
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Charcot-Marie-Tooth disease type 4H
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Aliases:
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CMT4H
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Charcot-Marie-Tooth neuropathy type 4H
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autosomal recessive Charcot-Marie-Tooth disease type 4H
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autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H
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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: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: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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DOID:0110175
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Charcot-Marie-Tooth disease axonal type 2O
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Aliases:
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Charcot-Marie-Tooth neuropathy axonal type 2O
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autosomal dominant Charcot-Marie-Tooth disease type 2O
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autosomal dominant axonal Charcot-Marie-Tooth disease type 2O
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Homo sapiens (human)
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DOID:0110177
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Charcot-Marie-Tooth disease axonal type 2N
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Aliases:
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CMT2N
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Charcot-Marie-Tooth neuropathy axonal type 2N
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autosomal dominant Charcot-Marie-Tooth disease type 2N
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autosomal dominant axonal Charcot-Marie-Tooth disease type 2N
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Homo sapiens (human)
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DOID:0110154
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Charcot-Marie-Tooth disease type 2A1
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Aliases:
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CMT2A1
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Charcot-Marie-Tooth disease neuronal type 2A1
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Charcot-Marie-Tooth neuropathy type 2A1
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HMSN IIA1
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HMSN2A1
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autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1
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hereditary motor and sensory neuropathy IIA1
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Homo sapiens (human)
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DOID:0110164
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Charcot-Marie-Tooth disease type 2D
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Aliases:
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CMT2D
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Charcot-Marie-Tooth disease neuronal type 2D
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Charcot-Marie-Tooth neuropathy type 2D
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autosomal dominant Charcot-Marie-Tooth disease type 2D
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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: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: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: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: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:0110174
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Charcot-Marie-Tooth disease axonal type 2L
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Aliases:
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CMT2L
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Charcot-Marie-Tooth neuropathy axonal type 2L
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autosomal dominant Charcot-Marie-Tooth disease type 2L
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autosomal dominant axonal Charcot-Marie-Tooth disease type 2L
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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: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: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: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:0110158
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Charcot-Marie-Tooth disease type 2I
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Aliases:
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CMT2I
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Charcot-Marie-Tooth neuropathy type 2I
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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: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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