DOID:0110166
|
-
Charcot-Marie-Tooth disease axonal type 2H
-
Aliases:
-
AR-CMT2C
-
Autosomal recessive axonal CMT4C2
-
Axonal Charcot-Marie-Tooth disease with pyramidal involvement
-
CMT2H
-
Charcot-Marie-Tooth disease type 2H
-
autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features
-
autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features
|
|
|
Homo sapiens (human)
|
DOID:0110148
|
-
Charcot-Marie-Tooth disease type 1A
-
Aliases:
-
CMT1A
-
Charcot-Marie-Tooth neuropathy type 1A
-
HMSN1A
-
autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A
-
hereditary motor and sensory neuropathy 1A
-
microduplication 17p12
|
|
|
Homo sapiens (human)
|
DOID:0110206
|
-
Charcot-Marie-Tooth disease dominant intermediate F
-
Aliases:
-
CMTDIF
-
autosomal dominant intermediate Charcot-Marie-Tooth disease type F
|
|
|
Homo sapiens (human)
|
DOID:0110210
|
-
Charcot-Marie-Tooth disease X-linked recessive 5
-
Aliases:
-
CMT5X
-
CMTX5
-
Charcot-Marie-Tooth neuropathy X-linked recessive 5
-
Rosenberg-Chutorian syndrome
-
X-linked Charcot-Marie-Tooth disease type 5
-
optic atrophy, polyneuropathy, and deafness
|
|
|
Homo sapiens (human)
|
DOID:0110204
|
-
Charcot-Marie-Tooth disease recessive intermediate B
-
Aliases:
-
CMTRIB
-
Charcot-Marie-Tooth neuropathy recessive intermediate B
-
RI-CMTB
-
autosomal recessive intermediate Charcot-Marie-Tooth disease type B
|
|
|
Homo sapiens (human)
|
DOID:0110150
|
-
Charcot-Marie-Tooth disease type 1D
-
Aliases:
-
CMT1D
-
Charcot-Marie-Tooth neuropathy type 1D
-
HMSN ID
-
HMSN1D
-
hereditary motor and sensory neuropathy 1D
|
|
|
Homo sapiens (human)
|
DOID:0110168
|
-
Charcot-Marie-Tooth disease type 2Y
-
Aliases:
-
CMT2 due to VCP mutation
-
CMT2Y
-
Charcot-Marie-Tooth neuropathy type 2Y
-
autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
-
autosomal dominant axonal Charcot-Marie-Tooth type 2Y
|
|
|
Homo sapiens (human)
|
DOID:0110187
|
-
Charcot-Marie-Tooth disease type 4K
-
Aliases:
-
CMT4K
-
SURF1-related CMT4
-
SURF1-related Charcot-Marie-Tooth disease type 4
-
SURF1-related severe demyelinating Charcot-Marie-Tooth disease
-
autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K
-
autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K
|
|
|
Homo sapiens (human)
|
DOID:0110163
|
-
Charcot-Marie-Tooth disease axonal type 2F
-
Aliases:
-
CMT2F
-
Charcot-Marie-Tooth neuronal type 2F
-
Charcot-Marie-Tooth neuropathy type 2F
-
autosomal dominant Charcot-Marie-Tooth disease type 2F
|
|
|
Homo sapiens (human)
|
DOID:0110207
|
-
Charcot-Marie-Tooth disease X-linked dominant 6
-
Aliases:
-
CMT6X
-
CMTX6
-
Charcot-Marie-Tooth neuropathy X-linked dominant 6
-
X-linked Charcot-Marie-Tooth disease type 6
|
|
|
Homo sapiens (human)
|
DOID:0110184
|
-
Charcot-Marie-Tooth disease type 4J
-
Aliases:
-
CMT4J
-
autosomal recessive Charcot-Marie-Tooth disease type 4J
|
|
|
Homo sapiens (human)
|
DOID:0110152
|
-
Charcot-Marie-Tooth disease type 1B
-
Aliases:
-
CMT1B
-
Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy
-
Charcot-Marie-Tooth neuropathy type 1B
-
HMSN IB
-
HMSN1B
-
autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B
-
hereditary motor and sensory neuropathy IB
-
peroneal muscular atrophy
|
|
|
Homo sapiens (human)
|
DOID:0110208
|
-
Charcot-Marie-Tooth disease X-linked recessive 2
-
Aliases:
-
CMTX2
-
Charcot-Marie-Tooth neuropathy X-linked recessive 2
-
X-linked Charcot-Marie-Tooth disease type 2
|
|
|
Homo sapiens (human)
|
DOID:0110177
|
-
Charcot-Marie-Tooth disease axonal type 2N
-
Aliases:
-
CMT2N
-
Charcot-Marie-Tooth neuropathy axonal type 2N
-
autosomal dominant Charcot-Marie-Tooth disease type 2N
-
autosomal dominant axonal Charcot-Marie-Tooth disease type 2N
|
|
|
Homo sapiens (human)
|
DOID:0110192
|
-
Charcot-Marie-Tooth disease type 4H
-
Aliases:
-
CMT4H
-
Charcot-Marie-Tooth neuropathy type 4H
-
autosomal recessive Charcot-Marie-Tooth disease type 4H
-
autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H
|
|
|
Homo sapiens (human)
|
DOID:0110203
|
-
Charcot-Marie-Tooth disease recessive intermediate D
-
Aliases:
-
CMTRID
-
RI-CMT type D
-
autosomal recessive intermediate Charcot-Marie-Tooth disease type D
|
|
|
Homo sapiens (human)
|
DOID:0110193
|
-
Charcot-Marie-Tooth disease type 4F
-
Aliases:
|
|
|
Homo sapiens (human)
|
DOID:0110156
|
-
Charcot-Marie-Tooth disease type 2B1
-
Aliases:
-
CMT2B1
-
Charcot-Marie-Tooth disease neuronal type 2B1
-
Charcot-Marie-Tooth neuropathy type 2B1
-
autosomal recessive Charcot-Marie-Tooth disease type 2B1
-
autosomal recessive axonal CMT4C1
-
autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1
|
|
|
Homo sapiens (human)
|
DOID:0110153
|
-
Charcot-Marie-Tooth disease type 1E
-
Aliases:
-
CMT1E
-
Charcot-Marie-Tooth disease and deafness
-
Charcot-Marie-Tooth disease demyelinating type 1E
-
Charcot-Marie-Tooth disease-deafness
-
autosomal dominant Charcot-Marie-Tooth neuropathy and deafness
|
|
|
Homo sapiens (human)
|
DOID:0110151
|
-
Charcot-Marie-Tooth disease type 1C
-
Aliases:
-
CMT slow nerve conduction type C
-
CMT1C
-
Charcot-Marie-Tooth neuropathy type 1C
-
HMSN IC
-
HMSN1C
-
neuropathy hereditary motor and sensory type 1C
|
|
|
Homo sapiens (human)
|
DOID:0110198
|
-
Charcot-Marie-Tooth disease recessive intermediate C
-
Aliases:
-
CMTRIC
-
RI-CMT type C
-
RI-CMTC
-
autosomal recessive intermediate Charcot-Marie-Tooth disease type C
|
|
|
Homo sapiens (human)
|
DOID:0110164
|
-
Charcot-Marie-Tooth disease type 2D
-
Aliases:
-
CMT2D
-
Charcot-Marie-Tooth disease neuronal type 2D
-
Charcot-Marie-Tooth neuropathy type 2D
-
autosomal dominant Charcot-Marie-Tooth disease type 2D
|
|
|
Homo sapiens (human)
|
DOID:0110157
|
-
Charcot-Marie-Tooth disease type 2J
-
Aliases:
-
CMT2J
-
Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities
-
Charcot-Marie-Tooth neuropathy type 2J
|
|
|
Homo sapiens (human)
|
DOID:0110182
|
-
Charcot-Marie-Tooth disease axonal type 2C
-
Aliases:
-
CMT2C
-
Charcot-Marie-Tooth neuropathy type 2C
-
HMSN2C
-
autosomal cominant axonal Charcot-Marie-Tooth disease type 2C
-
autosomal dominant Charcot-Marie-Tooth disease type 2C
-
hereditary motor and sensory neuropathy type IIc
|
|
|
Homo sapiens (human)
|
DOID:0110205
|
-
Charcot-Marie-Tooth disease dominant intermediate E
-
Aliases:
-
CMTDIE
-
Charcot-Marie-Tooth disease-nephropathy syndrome
-
Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis
-
autosomal dominant intermediate Charcot-Marie-Tooth disease type E
|
|
|
Homo sapiens (human)
|