???pagination.result.count???
Disease |
Synonyms |
Description |
Articles |
Phenotypes |
Charcot-Marie-Tooth disease type 2J
|
Charcot-Marie-Tooth neuropathy type 2J; CMT2J; Cha..
[+]
CMT2J; Charcot-Marie-Tooth neuropathy type 2J; Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities
[-]
|
A Charcot-Marie-Tooth disease type 2 characterized.. [+]
A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
[-]
|
|
|
Charcot-Marie-Tooth disease type 2I
|
CMT2I; Charcot-Marie-Tooth neuropathy type 2I
|
A Charcot-Marie-Tooth disease type 2 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
[-]
|
|
|
Charcot-Marie-Tooth disease type 2B
|
Charcot-Marie-Tooth neuropathy type 2B; CMT2B; aut..
[+]
CMT2B; Charcot-Marie-Tooth neuropathy type 2B; autosomal dominant Charcot-Marie-Tooth disease type 2B; hereditary motor and sensory nueropathy IIB; HMSN IIB; HMSN2B
[-]
|
A Charcot-Marie-Tooth disease type 2 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21.
[-]
|
|
|
Charcot-Marie-Tooth disease axonal type 2T
|
Charcot-Marie-Tooth neuropathy type 2T; CMT2T; AR-..
[+]
CMT2T; Charcot-Marie-Tooth neuropathy type 2T; AR-CMT2T; autosomal recessive axonal Charcot-Marie-Tooth disease type 2T
[-]
|
A Charcot-Marie-Tooth disease type 2 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.
[-]
|
|
|
Charcot-Marie-Tooth disease type 2R
|
Charcot-Marie-Tooth neuropathy type 2R; CMT2R; aut..
[+]
CMT2R; Charcot-Marie-Tooth neuropathy type 2R; autosomal recessive axonal Charcot-Marie-Tooth disease type 2R
[-]
|
A Charcot-Marie-Tooth disease type 2 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q.
[-]
|
|
|
Charcot-Marie-Tooth disease, axonal type 2W
|
Charcot-Marie-Tooth neuropathy type 2W; CMT2W; aut..
[+]
CMT2W; Charcot-Marie-Tooth neuropathy type 2W; autosomal dominant axonal Charcot-Marie-Tooth disease type 2W
[-]
|
A Charcot-Marie-Tooth disease type 2 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31.
[-]
|
|
|
Charcot-Marie-Tooth disease axonal type 2F
|
Charcot-Marie-Tooth neuropathy type 2F; CMT2F; Cha..
[+]
CMT2F; Charcot-Marie-Tooth neuropathy type 2F; Charcot-Marie-Tooth neuronal type 2F; autosomal dominant Charcot-Marie-Tooth disease type 2F
[-]
|
A Charcot-Marie-Tooth disease type 2 that has_mat.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1).
[-]
|
|
|
Charcot-Marie-Tooth disease type 2D
|
Charcot-Marie-Tooth neuropathy type 2D; CMT2D; Cha..
[+]
CMT2D; Charcot-Marie-Tooth neuropathy type 2D; Charcot-Marie-Tooth disease neuronal type 2D; autosomal dominant Charcot-Marie-Tooth disease type 2D
[-]
|
A Charcot-Marie-Tooth disease type 2 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the GARS1 gene.
[-]
|
|
|
Charcot-Marie-Tooth disease type 2E
|
Charcot-Marie-Tooth neuropathy type 2E; CMT2E; aut..
[+]
CMT2E; Charcot-Marie-Tooth neuropathy type 2E; autosomal dominant Charcot-Marie-Tooth disease type 2E
[-]
|
A Charcot-Marie-Tooth disease type 2 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21.
[-]
|
|
|
Charcot-Marie-Tooth disease axonal type 2H
|
Charcot-Marie-Tooth disease type 2H; CMT2H; AR-CMT..
[+]
CMT2H; Charcot-Marie-Tooth disease type 2H; AR-CMT2C; autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features; autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features; Autosomal recessive axonal CMT4C2; Axonal Charcot-Marie-Tooth disease with pyramidal involvement
[-]
|
A Charcot-Marie-Tooth disease type 2 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23.
[-]
|
|
|
Charcot-Marie-Tooth disease axonal type 2K
|
Charcot-Marie-Tooth neuropathy axonal type 2K; ARC..
[+]
Charcot-Marie-Tooth neuropathy axonal type 2K; ARCMT2K; autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K; autosomal recessive axonal Charcot-Marie-Tooth disease type 2K; autosomal recessive axonal CMT4C4; autosomal recessive Charcot-Marie-Tooth disease with hoarseness
[-]
|
A Charcot-Marie-Tooth disease type 2 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q.
[-]
|
|
|
Charcot-Marie-Tooth disease type 2Y
|
CMT2 due to VCP mutation; CMT2Y; Charcot-Marie-Too..
[+]
CMT2Y; CMT2 due to VCP mutation; Charcot-Marie-Tooth neuropathy type 2Y; autosomal dominant axonal Charcot-Marie-Tooth type 2Y; autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
[-]
|
A Charcot-Marie-Tooth disease type 2 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13.
[-]
|
|
|
Charcot-Marie-Tooth disease axonal type 2P
|
Charcot-Marie-Tooth neuropathy type 2P; CMT2P; Cha..
[+]
CMT2P; Charcot-Marie-Tooth neuropathy type 2P; Charcot-Marie-Tooth disease type 2P
[-]
|
A Charcot-Marie-Tooth disease type 2 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33.
[-]
|
|
|
Charcot-Marie-Tooth disease axonal type 2Q
|
Charcot-Marie-Tooth neuropathy type 2Q; CMT2Q; aut..
[+]
CMT2Q; Charcot-Marie-Tooth neuropathy type 2Q; autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q; autosomal dominant Charcot-Marie-Tooth disease type 2Q
[-]
|
A Charcot-Marie-Tooth disease type 2 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.
[-]
|
|
|
Charcot-Marie-Tooth disease axonal type 2S
|
Charcot-Marie-Tooth neuropathy type 2S; CMT2S; Cha..
[+]
CMT2S; Charcot-Marie-Tooth neuropathy type 2S; Charcot-Marie-Tooth disease type 2S; autosomal recessive axonal Charcot-Marie-Tooth type 2S
[-]
|
A Charcot-Marie-Tooth disease type 2 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.
[-]
|
|
|
Charcot-Marie-Tooth disease axonal type 2U
|
Charcot-Marie-Tooth neuropathy type 2U; CMT2U; aut..
[+]
CMT2U; Charcot-Marie-Tooth neuropathy type 2U; autosomal dominant axonal Charcot-Marie-Tooth disease type 2U; autosomal dominant Charcot-Marie-Tooth disease type 2U
[-]
|
A Charcot-Marie-Tooth disease type 2 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13.
[-]
|
|
|
Charcot-Marie-Tooth disease axonal type 2L
|
CMT2L; Charcot-Marie-Tooth neuropathy axonal type ..
[+]
CMT2L; Charcot-Marie-Tooth neuropathy axonal type 2L; autosomal dominant axonal Charcot-Marie-Tooth disease type 2L; autosomal dominant Charcot-Marie-Tooth disease type 2L
[-]
|
A Charcot-Marie-Tooth disease type 2 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene.
[-]
|
|
|
Charcot-Marie-Tooth disease axonal type 2O
|
Charcot-Marie-Tooth neuropathy axonal type 2O; aut..
[+]
Charcot-Marie-Tooth neuropathy axonal type 2O; autosomal dominant axonal Charcot-Marie-Tooth disease type 2O; autosomal dominant Charcot-Marie-Tooth disease type 2O
[-]
|
A Charcot-Marie-Tooth disease type 2 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.
[-]
|
|
|
Charcot-Marie-Tooth disease axonal type 2X
|
Charcot-Marie-Tooth neuropathy type 2X; autosomal ..
[+]
Charcot-Marie-Tooth neuropathy type 2X; autosomal recessive axonal Charcot-Marie-Tooth disease type 2X
[-]
|
A Charcot-Marie-Tooth disease type 2 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21.
[-]
|
|
|
Charcot-Marie-Tooth disease axonal type 2N
|
CMT2N; Charcot-Marie-Tooth neuropathy axonal type ..
[+]
CMT2N; Charcot-Marie-Tooth neuropathy axonal type 2N; autosomal dominant axonal Charcot-Marie-Tooth disease type 2N; autosomal dominant Charcot-Marie-Tooth disease type 2N
[-]
|
A Charcot-Marie-Tooth disease type 2 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21.
[-]
|
|
|
Charcot-Marie-Tooth disease axonal type 2V
|
Charcot-Marie-Tooth neuropathy type 2V; CMT2V; aut..
[+]
CMT2V; Charcot-Marie-Tooth neuropathy type 2V; autosomal dominant axonal Charcot-Marie-Tooth disease type 2V; autosomal dominant Charcot-Marie-Tooth disease type 2V
[-]
|
A Charcot-Marie-Tooth disease type 2 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.
[-]
|
|
|
Charcot-Marie-Tooth disease type 2B2
|
Charcot-Marie-Tooth neuropathy type 2B2; CMT2B2; C..
[+]
CMT2B2; Charcot-Marie-Tooth neuropathy type 2B2; Charcot-Marie-Tooth disease neuronal type 2B2; AR-CMT2B2; ARCMT2B; autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2; Autosomal recessive axonal CMT4C3
[-]
|
A Charcot-Marie-Tooth disease type 2 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene.
[-]
|
|
|
Charcot-Marie-Tooth disease axonal type 2CC
|
CMT2CC; Charcot-Marie-Tooth neuropathy type 2CC
|
A Charcot-Marie-Tooth disease type 2 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12.
[-]
|
|
|
Charcot-Marie-Tooth disease axonal type 2Z
|
Charcot-Marie-Tooth neuropathy type 2Z; CMT2Z; aut..
[+]
CMT2Z; Charcot-Marie-Tooth neuropathy type 2Z; autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z
[-]
|
A Charcot-Marie-Tooth disease type 2 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12.
[-]
|
|
|
Charcot-Marie-Tooth disease axonal type 2C
|
Charcot-Marie-Tooth neuropathy type 2C; CMT2C; aut..
[+]
CMT2C; Charcot-Marie-Tooth neuropathy type 2C; autosomal cominant axonal Charcot-Marie-Tooth disease type 2C; autosomal dominant Charcot-Marie-Tooth disease type 2C; hereditary motor and sensory neuropathy type IIc; HMSN2C
[-]
|
A Charcot-Marie-Tooth disease type 2 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.
[-]
|
|
|
Charcot-Marie-Tooth disease type 4C
|
Charcot-Marie-Tooth neuropathy type 4C; CMT4C; aut..
[+]
CMT4C; Charcot-Marie-Tooth neuropathy type 4C; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C
[-]
|
A Charcot-Marie-Tooth disease type 4 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene.
[-]
|
|
|
Charcot-Marie-Tooth disease type 4J
|
CMT4J; autosomal recessive Charcot-Marie-Tooth dis..
[+]
CMT4J; autosomal recessive Charcot-Marie-Tooth disease type 4J
[-]
|
A Charcot-Marie-Tooth disease type 4 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21.
[-]
|
|
|
Charcot-Marie-Tooth disease type 4A
|
Charcot-Marie-Tooth neuropathy type 4A; CMT4A; aut..
[+]
CMT4A; Charcot-Marie-Tooth neuropathy type 4A; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A
[-]
|
A Charcot-Marie-Tooth disease type 4 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21.
[-]
|
|
|
Charcot-Marie-Tooth disease type 4D
|
Charcot-Marie-Tooth neuropathy type 4D; CMT4D; aut..
[+]
CMT4D; Charcot-Marie-Tooth neuropathy type 4D; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D; hereditary motor abd sensory neuropathy LOM type; HMSN Lom type; HMSN-Lom; HMSN4D; HMSNL
[-]
|
A Charcot-Marie-Tooth disease type 4 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24.
[-]
|
|
|
Charcot-Marie-Tooth disease type 4K
|
CMT4K; autosomal recessive demyelinating Charcot-M..
[+]
CMT4K; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K; autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K; SURF1-related Charcot-Marie-Tooth disease type 4; SURF1-related CMT4; SURF1-related severe demyelinating Charcot-Marie-Tooth disease
[-]
|
A Charcot-Marie-Tooth disease type 4 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.
[-]
|
|
|
Charcot-Marie-Tooth disease type 4B2
|
Charcot-Marie-Tooth neuropathy type 4B2; CMT4B2; a..
[+]
CMT4B2; Charcot-Marie-Tooth neuropathy type 4B2; autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2
[-]
|
A Charcot-Marie-Tooth disease type 4 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene.
[-]
|
|
|
Charcot-Marie-Tooth disease type 4B1
|
Charcot-Marie-Tooth neuropathy type 4B1; CMT4B1; a..
[+]
CMT4B1; Charcot-Marie-Tooth neuropathy type 4B1; autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1
[-]
|
A Charcot-Marie-Tooth disease type 4 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2).
[-]
|
|
|
Charcot-Marie-Tooth disease type 4H
|
Charcot-Marie-Tooth neuropathy type 4H; CMT4H; aut..
[+]
CMT4H; Charcot-Marie-Tooth neuropathy type 4H; autosomal recessive Charcot-Marie-Tooth disease type 4H; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H
[-]
|
A Charcot-Marie-Tooth disease type 4 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4).
[-]
|
|
|
Charcot-Marie-Tooth disease type 4F
|
CMT4F
|
A Charcot-Marie-Tooth disease type 4 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13.
[-]
|
|
|
Charcot-Marie-Tooth disease type 4B3
|
CMT4B3
|
A Charcot-Marie-Tooth disease type 4 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q.
[-]
|
|
|
Charcot-Marie-Tooth disease type 4E
|
Charcot-Marie-Tooth neuropathy type 4E; CMT4E; aut..
[+]
CMT4E; Charcot-Marie-Tooth neuropathy type 4E; autosomal recessive congenital hypomyelinating or amyelinating neuropathy; Neuropathy, congenital hypomyelinating, 1
[-]
|
A Charcot-Marie-Tooth disease type 4 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23.
[-]
|
|
|
Charcot-Marie-Tooth disease type 4G
|
Charcot-Marie-Tooth neuropathy type 4G; CMT4G; aut..
[+]
CMT4G; Charcot-Marie-Tooth neuropathy type 4G; autosomal recessive Charcot-Marie-Tooth disease type 4G; hereditary motor and sensory neuropathy Russe type; HMSNR
[-]
|
A Charcot-Marie-Tooth disease type 4 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22.
[-]
|
|
|
Charcot-Marie-Tooth disease dominant intermediate B
|
CMTDI1; CMTDIB; Charcot-Marie-Tooth neuropathy dom..
[+]
CMTDIB; CMTDI1; Charcot-Marie-Tooth neuropathy dominant intermediate B; DI-CMTB
[-]
|
A Charcot-Marie-Tooth disease intermediate type th.. [+]
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2).
[-]
|
|
|
Charcot-Marie-Tooth disease recessive intermediate C
|
CMTRIC; autosomal recessive intermediate Charcot-M..
[+]
CMTRIC; autosomal recessive intermediate Charcot-Marie-Tooth disease type C; RI-CMT type C; RI-CMTC
[-]
|
A Charcot-Marie-Tooth disease intermediate type th.. [+]
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36.
[-]
|
|
|
Charcot-Marie-Tooth disease dominant intermediate C
|
CMTDIC; Charcot-Marie-Tooth neuropathy dominant in..
[+]
CMTDIC; Charcot-Marie-Tooth neuropathy dominant intermediate C; autosomal dominant intermediate Charcot-Marie-Tooth disease type C; DI-CMTC
[-]
|
A Charcot-Marie-Tooth disease intermediate type th.. [+]
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35.
[-]
|
|
|
Charcot-Marie-Tooth disease dominant intermediate D
|
CMTDID; Charcot-Marie-Tooth neuropathy dominant in..
[+]
CMTDID; Charcot-Marie-Tooth neuropathy dominant intermediate D; autosomal dominant intermediate Charcot-Marie-Tooth disease type D; DI-CMTD
[-]
|
A Charcot-Marie-Tooth disease intermediate type th.. [+]
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
[-]
|
|
|
Charcot-Marie-Tooth disease recessive intermediate A
|
CMTRIA; Charcot-Marie-Tooth neuropathy recessive i..
[+]
CMTRIA; Charcot-Marie-Tooth neuropathy recessive intermediate A; autosomal recessive intermediate Charcot-Marie-Tooth disease type A; RI-CMTA
[-]
|
A Charcot-Marie-Tooth disease intermediate type th.. [+]
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21.
[-]
|
|
|
Charcot-Marie-Tooth disease dominant intermediate A
|
CMTDIA; Charcot-Marie-Tooth neuropathy dominant in..
[+]
CMTDIA; Charcot-Marie-Tooth neuropathy dominant intermediate A; autosomal dominant intermediate Charcot-Marie-Tooth disease type A; DI-CMTA
[-]
|
A Charcot-Marie-Tooth disease intermediate type th.. [+]
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1.
[-]
|
|
|
Charcot-Marie-Tooth disease recessive intermediate D
|
CMTRID; autosomal recessive intermediate Charcot-M..
[+]
CMTRID; autosomal recessive intermediate Charcot-Marie-Tooth disease type D; RI-CMT type D
[-]
|
A Charcot-Marie-Tooth disease intermediate type th.. [+]
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24.
[-]
|
|
|
Charcot-Marie-Tooth disease recessive intermediate B
|
CMTRIB; Charcot-Marie-Tooth neuropathy recessive i..
[+]
CMTRIB; Charcot-Marie-Tooth neuropathy recessive intermediate B; autosomal recessive intermediate Charcot-Marie-Tooth disease type B; RI-CMTB
[-]
|
A Charcot-Marie-Tooth disease intermediate type th.. [+]
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23.
[-]
|
|
|
Charcot-Marie-Tooth disease dominant intermediate E
|
CMTDIE; Charcot-Marie-Tooth neuropathy with focal ..
[+]
CMTDIE; Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis; Charcot-Marie-Tooth disease-nephropathy syndrome; autosomal dominant intermediate Charcot-Marie-Tooth disease type E
[-]
|
A Charcot-Marie-Tooth disease intermediate type th.. [+]
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32.
[-]
|
|
|
Charcot-Marie-Tooth disease dominant intermediate F
|
CMTDIF; autosomal dominant intermediate Charcot-Ma..
[+]
CMTDIF; autosomal dominant intermediate Charcot-Marie-Tooth disease type F
[-]
|
A Charcot-Marie-Tooth disease intermediate type th.. [+]
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28.
[-]
|
|
|
Charcot-Marie-Tooth disease X-linked dominant 6
|
CMT6X; CMTX6; Charcot-Marie-Tooth neuropathy X-lin..
[+]
CMTX6; CMT6X; Charcot-Marie-Tooth neuropathy X-linked dominant 6; X-linked Charcot-Marie-Tooth disease type 6
[-]
|
A Charcot-Marie-Tooth disease X-linked that has_ma.. [+]
A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22.
[-]
|
|
|
Charcot-Marie-Tooth disease X-linked recessive 2
|
CMTX2; Charcot-Marie-Tooth neuropathy X-linked rec..
[+]
CMTX2; Charcot-Marie-Tooth neuropathy X-linked recessive 2; X-linked Charcot-Marie-Tooth disease type 2
[-]
|
A Charcot-Marie-Tooth disease X-linked that has_ma.. [+]
A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xp22.2.
[-]
|
|
|
Charcot-Marie-Tooth disease X-linked dominant 1
|
CMT1X; CMTX1; Charcot-Marie-Tooth neuropathy X-lin..
[+]
CMTX1; CMT1X; Charcot-Marie-Tooth neuropathy X-linked dominant 1; X-linked Charcot-Marie-Tooth disease type 1
[-]
|
A Charcot-Marie-Tooth disease X-linked that has_ma.. [+]
A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13.
[-]
|
|
|