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Disease	Synonyms	Description	Articles
Charcot-Marie-Tooth disease axonal type 2CC	Charcot-Marie-Tooth neuropathy type 2CC; CMT2CC	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 dominant Charcot-Marie-Tooth disease type 2C; hereditary motor and sensory neuropathy type IIc; autosomal cominant axonal Charcot-Marie-Tooth disease type 2C; 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	CMT4C; Charcot-Marie-Tooth neuropathy type 4C; aut.. [+] Charcot-Marie-Tooth neuropathy type 4C; CMT4C; 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	CMT4D; Charcot-Marie-Tooth neuropathy type 4D; her.. [+] Charcot-Marie-Tooth neuropathy type 4D; CMT4D; hereditary motor and sensory neuropathy LOM type; HMSN-Lom; HMSN4D; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D; hereditary motor abd sensory neuropathy LOM type; HMSN Lom type; 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; SURF1-related Charcot-Marie-Tooth disease type 4; SURF1-related CMT4; SURF1-related severe demyelinating Charcot-Marie-Tooth disease; autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K [-]	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	CMT4B2; Charcot-Marie-Tooth neuropathy type 4B2; a.. [+] Charcot-Marie-Tooth neuropathy type 4B2; CMT4B2; 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 demyelinating Charcot-Marie-Tooth disease type 4H; autosomal recessive 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	CMT4G; Charcot-Marie-Tooth neuropathy type 4G; aut.. [+] Charcot-Marie-Tooth neuropathy type 4G; CMT4G; 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	CMTDIB; CMTDI1; Charcot-Marie-Tooth neuropathy dom.. [+] CMTDI1; CMTDIB; 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; RI-CMT type C; RI-CMTC; autosomal recessiv.. [+] CMTRIC; RI-CMT type C; RI-CMTC; autosomal recessive intermediate Charcot-Marie-Tooth disease type C [-]	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	Charcot-Marie-Tooth neuropathy dominant intermedia.. [+] Charcot-Marie-Tooth neuropathy dominant intermediate C; CMTDIC; 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	Charcot-Marie-Tooth neuropathy recessive intermedi.. [+] Charcot-Marie-Tooth neuropathy recessive intermediate B; CMTRIB; 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	Charcot-Marie-Tooth neuropathy with focal segmenta.. [+] Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis; CMTDIE; 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. [-]	1 articles
Charcot-Marie-Tooth disease X-linked recessive 5	CMT5X; CMTX5; Charcot-Marie-Tooth neuropathy X-lin.. [+] CMTX5; CMT5X; Charcot-Marie-Tooth neuropathy X-linked recessive 5; optic atrophy, polyneuropathy, and deafness; X-linked Charcot-Marie-Tooth disease type 5; Rosenberg-Chutorian syndrome [-]	A Charcot-Marie-Tooth disease X-linked that has_ma..[+] A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22. [-]
Charcot-Marie-Tooth disease X-linked recessive 3	CMT3X; CMTX3; Charcot-Marie-Tooth neuropathy X-lin.. [+] CMTX3; CMT3X; Charcot-Marie-Tooth neuropathy X-linked recessive 3; X-linked Charcot-Marie-Tooth disease type 3 [-]	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 Xq26. [-]
Charcot-Marie-Tooth disease X-linked recessive 4	CMTX4; Cowchock syndrome; CMT4X; COWCK; Charcot-Ma.. [+] COWCK; CMT4X; Cowchock syndrome; CMTX4; Charcot-Marie-Tooth disease with deafness and mental retardation; axonal motor sensory neuropathy with deafness and mental retardation; NADMR; NAMSD; X-linked Charcot-Marie-Tooth disease type 4 [-]	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 AIFM1 gene on chromosome Xq26. [-]
cleft soft palate	cleft velum; cleft velum palatinum; soft cleft pal.. [+] cleft velum palatinum; cleft velum; soft cleft palate [-]	A cleft palate that is characterized as a fissure ..[+] A cleft palate that is characterized as a fissure type embryopathy that affects in varying degrees the soft palate. [-]
cataract 32 multiple types	CTAA1; CTPP5; CTRCT32; anterior polar cataract 1; .. [+] CTRCT32; CTPP5; CTAA1; anterior polar cataract 1; posterior polar cataract 5 [-]	A cataract that has_material_basis_in mutation in ..[+] A cataract that has_material_basis_in mutation in the region 14q22-q23. [-]
cataract 8 multiple types	cataract, congenital, Volkmann type; CTRCT8; CCV	A cataract that has_material_basis_in variation in..[+] A cataract that has_material_basis_in variation in the region 1pter-p36.13. [-]
cataract 6 multiple types	CTPP1; CTRCT6; age related cortical cataract 2; AR.. [+] CTRCT6; CTPP1; age related cortical cataract 2; ARCC2; posterior polar cataract 1 [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36. [-]
cataract 34 multiple types	CATC3; CTRCT34; cataract 34 multiple types with or.. [+] CTRCT34; CATC3; cataract 34 multiple types with or without microcornea; autosomal recessive congenital cataract 3 [-]	A cataract that has_material_basis_in variation in..[+] A cataract that has_material_basis_in variation in the region 1p34.3-p32.2. [-]
cataract 1 multiple types	CZP1; CAE1; CTRCT1; cataract 1, multiple types, wi.. [+] CTRCT1; CAE1; CZP1; cataract 1, multiple types, with or without microcornea; zonular pulverulent cataract 1; Duffy linked cataract [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21. [-]	2 articles
cataract 29	cataract 29 coralliform	A cataract that has_material_basis_in variation in..[+] A cataract that has_material_basis_in variation in the region 2pter-p24. [-]
cataract 27	CTRCT27; cataract 27 nuclear progressive	A cataract that has_material_basis_in mutation in ..[+] A cataract that has_material_basis_in mutation in the region 2p12. [-]
cataract 4 multiple types	CTRCT4; cataract 4 multiple types with or without .. [+] CTRCT4; cataract 4 multiple types with or without microcornea; congenital cataract cerulean type 3; CCA3 [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33. [-]
cataract 2 multiple types	CTRCT2; cataract 2 multiple types with or without .. [+] CTRCT2; cataract 2 multiple types with or without microcornea [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33. [-]
cataract 39 multiple types	CTRCT39; autosomal dominant cataract 39 multiple t.. [+] CTRCT39; autosomal dominant cataract 39 multiple types [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the CRYGB gene on chromosome 2q34. [-]
cataract 42	CTRCT42; A cataract that has_material_basis_in het.. [+] CTRCT42; A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35. [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35. [-]
cataract 18	CATC2; CTRCT18; cataract 18 autosomal recessive; a.. [+] cataract 18 autosomal recessive; CTRCT18; CATC2; autosomal recessive congenital cataract 2 [-]	A cataract that has_material_basis_in homozygous m..[+] A cataract that has_material_basis_in homozygous mutation in the FYCO1 gene on chromosome 3p21.3. [-]
cataract 12 multiple types	CTRCT12	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22. [-]
cataract 20 multiple types	CTRCT20	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the CRYGS gene on chromosome 3q27. [-]
cataract 41	CTRCT41; congenital nuclear type cataract 41	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16. [-]
cataract 13 with adult i phenotype	CTRCT13	A cataract that has_material_basis_in homozygous o..[+] A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24. [-]
cataract 46 juvenile-onset	CTRCT46; juvenilae cataract Hutterite type	A cataract that has_material_basis_in homozygous m..[+] A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21. [-]
cataract 28	CTRCT28; age-related cortical cataract 1; ARCC1	A cataract that has_material_basis_in variation in..[+] A cataract that has_material_basis_in variation in the region 6p12-q12. [-]

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