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Disease	Synonyms	Description
Charcot-Marie-Tooth disease axonal type 2F	autosomal dominant Charcot-Marie-Tooth disease type 2F; Char.. [+] autosomal dominant Charcot-Marie-Tooth disease type 2F; Charcot-Marie-Tooth neuropathy type 2F; CMT2F; Charcot-Marie-Tooth neuronal type 2F; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basi..[+] 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 axonal type 2H	AR-CMT2C; autosomal recessive axonal Charcot-Marie-Tooth dis.. [+] AR-CMT2C; autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features; autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features; Axonal Charcot-Marie-Tooth disease with pyramidal involvement; Charcot-Marie-Tooth disease type 2H; CMT2H; Autosomal recessive axonal CMT4C2; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+] 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	ARCMT2K; autosomal recessive axonal Charcot-Marie-Tooth dise.. [+] ARCMT2K; autosomal recessive axonal Charcot-Marie-Tooth disease type 2K; autosomal recessive axonal CMT4C4; autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Charcot-Marie-Tooth neuropathy axonal type 2K; autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+] 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 axonal type 2L	autosomal dominant axonal Charcot-Marie-Tooth disease type 2.. [+] autosomal dominant axonal Charcot-Marie-Tooth disease type 2L; autosomal dominant Charcot-Marie-Tooth disease type 2L; CMT2L; Charcot-Marie-Tooth neuropathy axonal type 2L; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene. [-]
Charcot-Marie-Tooth disease axonal type 2N	autosomal dominant axonal Charcot-Marie-Tooth disease type 2.. [+] autosomal dominant axonal Charcot-Marie-Tooth disease type 2N; autosomal dominant Charcot-Marie-Tooth disease type 2N; Charcot-Marie-Tooth neuropathy axonal type 2N; CMT2N; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+] 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 2O	autosomal dominant axonal Charcot-Marie-Tooth disease type 2.. [+] autosomal dominant axonal Charcot-Marie-Tooth disease type 2O; autosomal dominant Charcot-Marie-Tooth disease type 2O; Charcot-Marie-Tooth neuropathy axonal type 2O; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+] 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 2P	Charcot-Marie-Tooth disease type 2P; Charcot-Marie-Tooth neu.. [+] Charcot-Marie-Tooth disease type 2P; Charcot-Marie-Tooth neuropathy type 2P; CMT2P; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+] 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	autosomal dominant axonal Charcot-Marie-Tooth disease type 2.. [+] autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q; Charcot-Marie-Tooth neuropathy type 2Q; CMT2Q; autosomal dominant Charcot-Marie-Tooth disease type 2Q; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+] 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	autosomal recessive axonal Charcot-Marie-Tooth type 2S; Char.. [+] autosomal recessive axonal Charcot-Marie-Tooth type 2S; Charcot-Marie-Tooth neuropathy type 2S; CMT2S; Charcot-Marie-Tooth disease type 2S; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+] 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 2T	AR-CMT2T; autosomal recessive axonal Charcot-Marie-Tooth dis.. [+] AR-CMT2T; autosomal recessive axonal Charcot-Marie-Tooth disease type 2T; Charcot-Marie-Tooth neuropathy type 2T; CMT2T; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+] 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 axonal type 2U	autosomal dominant axonal Charcot-Marie-Tooth disease type 2.. [+] autosomal dominant axonal Charcot-Marie-Tooth disease type 2U; autosomal dominant Charcot-Marie-Tooth disease type 2U; CMT2U; Charcot-Marie-Tooth neuropathy type 2U; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+] 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 2V	autosomal dominant Charcot-Marie-Tooth disease type 2V; Char.. [+] autosomal dominant Charcot-Marie-Tooth disease type 2V; Charcot-Marie-Tooth neuropathy type 2V; CMT2V; autosomal dominant axonal Charcot-Marie-Tooth disease type 2V; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+] 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 axonal type 2X	autosomal recessive axonal Charcot-Marie-Tooth disease type .. [+] autosomal recessive axonal Charcot-Marie-Tooth disease type 2X; Charcot-Marie-Tooth neuropathy type 2X; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+] 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 2Z	autosomal dominant axonal Charcot-Marie-Tooth disease type 2.. [+] autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z; Charcot-Marie-Tooth neuropathy type 2Z; CMT2Z; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+] 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 dominant intermediate A	autosomal dominant intermediate Charcot-Marie-Tooth disease .. [+] autosomal dominant intermediate Charcot-Marie-Tooth disease type A; Charcot-Marie-Tooth neuropathy dominant intermediate A; DI-CMTA; CMTDIA; [-]	A Charcot-Marie-Tooth disease intermediate type that has_mat..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1. [-]
Charcot-Marie-Tooth disease dominant intermediate B	Charcot-Marie-Tooth neuropathy dominant intermediate B; CMTD.. [+] Charcot-Marie-Tooth neuropathy dominant intermediate B; CMTDIB; DI-CMTB; CMTDI1; [-]	A Charcot-Marie-Tooth disease intermediate type that has_mat..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2). [-]
Charcot-Marie-Tooth disease dominant intermediate C	autosomal dominant intermediate Charcot-Marie-Tooth disease .. [+] autosomal dominant intermediate Charcot-Marie-Tooth disease type C; CMTDIC; DI-CMTC; Charcot-Marie-Tooth neuropathy dominant intermediate C; [-]	A Charcot-Marie-Tooth disease intermediate type that has_mat..[+] 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	autosomal dominant intermediate Charcot-Marie-Tooth disease .. [+] autosomal dominant intermediate Charcot-Marie-Tooth disease type D; Charcot-Marie-Tooth neuropathy dominant intermediate D; CMTDID; DI-CMTD; [-]	A Charcot-Marie-Tooth disease intermediate type that has_mat..[+] 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 dominant intermediate E	autosomal dominant intermediate Charcot-Marie-Tooth disease .. [+] autosomal dominant intermediate Charcot-Marie-Tooth disease type E; Charcot-Marie-Tooth disease-nephropathy syndrome; CMTDIE; Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis; [-]	A Charcot-Marie-Tooth disease intermediate type that has_mat..[+] 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	autosomal dominant intermediate Charcot-Marie-Tooth disease .. [+] autosomal dominant intermediate Charcot-Marie-Tooth disease type F; CMTDIF; [-]	A Charcot-Marie-Tooth disease intermediate type that has_mat..[+] 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 dominant intermediate G		A Charcot-Marie-Tooth disease intermediate type that has_mat..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21. [-]
Charcot-Marie-Tooth disease intermediate type	Charcot-Marie-Tooth disease recessive intermediate; Charcot-.. [+] Charcot-Marie-Tooth disease recessive intermediate; Charcot-Marie-Tooth disease dominant intermediate; [-]	A Charcot-Marie-Tooth disease characterized by motor conduct..[+] A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s. [-]
Charcot-Marie-Tooth disease recessive intermediate A	Charcot-Marie-Tooth neuropathy recessive intermediate A; CMT.. [+] Charcot-Marie-Tooth neuropathy recessive intermediate A; CMTRIA; autosomal recessive intermediate Charcot-Marie-Tooth disease type A; RI-CMTA; [-]	A Charcot-Marie-Tooth disease intermediate type that has_mat..[+] 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 recessive intermediate B	autosomal recessive intermediate Charcot-Marie-Tooth disease.. [+] autosomal recessive intermediate Charcot-Marie-Tooth disease type B; CMTRIB; RI-CMTB; Charcot-Marie-Tooth neuropathy recessive intermediate B; [-]	A Charcot-Marie-Tooth disease intermediate type that has_mat..[+] 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 recessive intermediate C	CMTRIC; RI-CMT type C; RI-CMTC; autosomal recessive intermed.. [+] CMTRIC; RI-CMT type C; RI-CMTC; autosomal recessive intermediate Charcot-Marie-Tooth disease type C; [-]	A Charcot-Marie-Tooth disease intermediate type that has_mat..[+] 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 recessive intermediate D	autosomal recessive intermediate Charcot-Marie-Tooth disease.. [+] autosomal recessive intermediate Charcot-Marie-Tooth disease type D; RI-CMT type D; CMTRID; [-]	A Charcot-Marie-Tooth disease intermediate type that has_mat..[+] 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 type 1	hereditary motor and sensory neuropathy type 1;	A Charcot-Marie-Tooth disease characterized by demyelination..[+] A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. [-]
Charcot-Marie-Tooth disease type 1A	autosomal dominant Charcot-Marie-Tooth disease with focally .. [+] autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A; CMT1A; hereditary motor and sensory neuropathy 1A; HMSN1A; Charcot-Marie-Tooth neuropathy type 1A; microduplication 17p12; [-]	A Charcot-Marie-Tooth disease type 1 that has_material_basis..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). [-]
Charcot-Marie-Tooth disease type 1B	autosomal dominant Charcot-Marie-Tooth disease with focally .. [+] autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B ; Charcot-Marie-Tooth neuropathy type 1B; CMT1B; hereditary motor and sensory neuropathy IB; HMSN IB; HMSN1B; peroneal muscular atrophy; Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy; [-]	A Charcot-Marie-Tooth disease type 1 that has_material_basis..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ). [-]
Charcot-Marie-Tooth disease type 1C	Charcot-Marie-Tooth neuropathy type 1C; CMT1C; HMSN IC; HMSN.. [+] Charcot-Marie-Tooth neuropathy type 1C; CMT1C; HMSN IC; HMSN1C; neuropathy hereditary motor and sensory type 1C; CMT slow nerve conduction type C; [-]	A Charcot-Marie-Tooth disease type 1 that has_material_basis..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13. [-]
Charcot-Marie-Tooth disease type 1D	Charcot-Marie-Tooth neuropathy type 1D; CMT1D; HMSN ID; HMSN.. [+] Charcot-Marie-Tooth neuropathy type 1D; CMT1D; HMSN ID; HMSN1D; hereditary motor and sensory neuropathy 1D; [-]	A Charcot-Marie-Tooth disease type 1 that has_material_basis..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2). [-]
Charcot-Marie-Tooth disease type 1E	autosomal dominant Charcot-Marie-Tooth neuropathy and deafne.. [+] autosomal dominant Charcot-Marie-Tooth neuropathy and deafness; Charcot-Marie-Tooth disease and deafness; Charcot-Marie-Tooth disease demyelinating type 1E; Charcot-Marie-Tooth disease-deafness; CMT1E; [-]	A Charcot-Marie-Tooth disease type 1 that has_material_basis..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22) [-]
Charcot-Marie-Tooth disease type 1F	Charcot-Marie-Tooth neuropathy type 1F; CMT1F;	A Charcot-Marie-Tooth disease type 1 that has_material_basis..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene. [-]
Charcot-Marie-Tooth disease type 1G	CMT1G; PMP2-related Charcot-Marie-Tooth disease type 1; PMP2.. [+] CMT1G; PMP2-related Charcot-Marie-Tooth disease type 1; PMP2-related Charcot-Marie-Tooth neuropathy type 1; PMP2-related hereditary motor and sensory neuropathy type 1; PMP2-related CMT1; [-]	A Charcot-Marie-Tooth disease type 1 characterized by distal..[+] A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in PMP2 on chromosome 8q21.13. [-]
Charcot-Marie-Tooth disease type 2	hereditary motor and sensory neuropathy Guadalajara neuronal.. [+] hereditary motor and sensory neuropathy Guadalajara neuronal type; hereditary motor and sensory neuropathy type 2; hereditary motor and sensory neuropathy Okinawa type; [-]	A Charcot-Marie-Tooth disease characterized by abnormalities..[+] A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. [-]
Charcot-Marie-Tooth disease type 2A1	autosomal dominant Charcot-Marie-Tooth disease axonal type 2.. [+] autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1; Charcot-Marie-Tooth disease neuronal type 2A1; CMT2A1; hereditary motor and sensory neuropathy IIA1; HMSN IIA1; HMSN2A1; Charcot-Marie-Tooth neuropathy type 2A1; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36. [-]
Charcot-Marie-Tooth disease type 2A2A	autosomal dominant axonal Charcot-Marie-Tooth disease type 2.. [+] autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth neuropathy type 2A2; CMT2A2; hereditary motor and sensory neuropathy IIA2; HMSN IIA2; HMSN2A2; Charcot-Marie-Tooth neuronal type 2A2; CMT2A2A; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basi..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22. [-]
Charcot-Marie-Tooth disease type 2A2B	AR-CMT2, Ouvrier type; Charcot-Marie-Tooth disease, axonal, .. [+] AR-CMT2, Ouvrier type; Charcot-Marie-Tooth disease, axonal, type 2A2B; CMT2A2B; SEOAN due to MFN2 deficiency; severe early-onset axonal neuropathy due to MFN2 deficiency; autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type; [-]	A Charcot-Marie-Tooth disease type 2 characterized by onset ..[+] A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in MFN2 on chromosome 1p36.22. [-]
Charcot-Marie-Tooth disease type 2B	Charcot-Marie-Tooth neuropathy type 2B; CMT2B; HMSN IIB; HMS.. [+] Charcot-Marie-Tooth neuropathy type 2B; CMT2B; HMSN IIB; HMSN2B; autosomal dominant Charcot-Marie-Tooth disease type 2B; hereditary motor and sensory nueropathy IIB; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+] 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 type 2B1	autosomal recessive axonal Charcot-Marie-Tooth disease type .. [+] autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1; autosomal recessive axonal CMT4C1; Charcot-Marie-Tooth disease neuronal type 2B1; Charcot-Marie-Tooth neuropathy type 2B1; CMT2B1; autosomal recessive Charcot-Marie-Tooth disease type 2B1; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22. [-]
Charcot-Marie-Tooth disease type 2B2	ARCMT2B; autosomal recessive axonal Charcot-Marie-Tooth dise.. [+] ARCMT2B; autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2; Autosomal recessive axonal CMT4C3; Charcot-Marie-Tooth disease neuronal type 2B2; Charcot-Marie-Tooth neuropathy type 2B2; CMT2B2; AR-CMT2B2; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene. [-]
Charcot-Marie-Tooth disease type 2D	autosomal dominant Charcot-Marie-Tooth disease type 2D; Char.. [+] autosomal dominant Charcot-Marie-Tooth disease type 2D; Charcot-Marie-Tooth disease neuronal type 2D; CMT2D; Charcot-Marie-Tooth neuropathy type 2D; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding glycyl tRNA synthetase (GARS). [-]
Charcot-Marie-Tooth disease type 2DD	ATP1A1-related autosomal dominant Charcot-Marie-Tooth diseas.. [+] ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2; ATP1A1-related CMT2; Charcot-Marie-Tooth disease, axonal, type 2DD; Charcot-Marie-Tooth neuropathy, type 2DD; CMT2DD; [-]	A Charcot-Marie-Tooth disease type 2 characterized by neurop..[+] A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in ATP1A1 on chromosome 1p13.1. [-]
Charcot-Marie-Tooth disease type 2E	autosomal dominant Charcot-Marie-Tooth disease type 2E; CMT2.. [+] autosomal dominant Charcot-Marie-Tooth disease type 2E; CMT2E; Charcot-Marie-Tooth neuropathy type 2E; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+] 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 type 2EE	Charcot-Marie-Tooth disease, axonal, type 2EE; CMT2EE;	A Charcot-Marie-Tooth disease type 2 characterized by slowly..[+] A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in MPV17 on chromosome 2p23.3. [-]
Charcot-Marie-Tooth disease type 2I	Charcot-Marie-Tooth neuropathy type 2I; CMT2I;	A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+] 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 2J	Charcot-Marie-Tooth disease type 2 with hearing loss and pup.. [+] Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities; Charcot-Marie-Tooth neuropathy type 2J; CMT2J; [-]	A Charcot-Marie-Tooth disease type 2 characterized by hearin..[+] 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 2R	Charcot-Marie-Tooth neuropathy type 2R; CMT2R; autosomal rec.. [+] Charcot-Marie-Tooth neuropathy type 2R; CMT2R; autosomal recessive axonal Charcot-Marie-Tooth disease type 2R; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+] 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 type 2Y	autosomal dominant axonal Charcot-Marie-Tooth type 2Y; autos.. [+] autosomal dominant axonal Charcot-Marie-Tooth type 2Y; autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; CMT2 due to VCP mutation; CMT2Y; Charcot-Marie-Tooth neuropathy type 2Y; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+] 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 type 3	DEJERINE-SOTTAS SYNDROME; DEJERINE-SOTTAS NEUROPATHY;	n_a

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