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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
Charcot-Marie-Tooth disease axonal type 2CC
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Charcot-Marie-Tooth neuropathy type 2CC; CMT2CC
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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.
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Charcot-Marie-Tooth disease axonal type 2Z
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Charcot-Marie-Tooth neuropathy type 2Z; CMT2Z; aut..
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CMT2Z; Charcot-Marie-Tooth neuropathy type 2Z; autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z
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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.
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Charcot-Marie-Tooth disease axonal type 2C
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Charcot-Marie-Tooth neuropathy type 2C; CMT2C; aut..
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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
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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.
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Charcot-Marie-Tooth disease type 4C
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CMT4C; Charcot-Marie-Tooth neuropathy type 4C; aut..
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Charcot-Marie-Tooth neuropathy type 4C; CMT4C; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C
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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.
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Charcot-Marie-Tooth disease type 4J
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CMT4J; autosomal recessive Charcot-Marie-Tooth dis..
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CMT4J; autosomal recessive Charcot-Marie-Tooth disease type 4J
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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.
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Charcot-Marie-Tooth disease type 4A
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Charcot-Marie-Tooth neuropathy type 4A; CMT4A; aut..
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CMT4A; Charcot-Marie-Tooth neuropathy type 4A; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A
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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.
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Charcot-Marie-Tooth disease type 4D
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CMT4D; Charcot-Marie-Tooth neuropathy type 4D; her..
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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
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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.
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Charcot-Marie-Tooth disease type 4K
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CMT4K; autosomal recessive demyelinating Charcot-M..
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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
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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.
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Charcot-Marie-Tooth disease type 4B2
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CMT4B2; Charcot-Marie-Tooth neuropathy type 4B2; a..
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Charcot-Marie-Tooth neuropathy type 4B2; CMT4B2; autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2
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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.
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Charcot-Marie-Tooth disease type 4B1
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Charcot-Marie-Tooth neuropathy type 4B1; CMT4B1; a..
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CMT4B1; Charcot-Marie-Tooth neuropathy type 4B1; autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1
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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).
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Charcot-Marie-Tooth disease type 4H
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Charcot-Marie-Tooth neuropathy type 4H; CMT4H; aut..
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CMT4H; Charcot-Marie-Tooth neuropathy type 4H; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H; autosomal recessive Charcot-Marie-Tooth disease type 4H
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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).
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Charcot-Marie-Tooth disease type 4F
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CMT4F
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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.
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Charcot-Marie-Tooth disease type 4B3
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CMT4B3
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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.
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Charcot-Marie-Tooth disease type 4E
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Charcot-Marie-Tooth neuropathy type 4E; CMT4E; aut..
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CMT4E; Charcot-Marie-Tooth neuropathy type 4E; autosomal recessive congenital hypomyelinating or amyelinating neuropathy; Neuropathy, congenital hypomyelinating, 1
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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.
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Charcot-Marie-Tooth disease type 4G
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CMT4G; Charcot-Marie-Tooth neuropathy type 4G; aut..
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Charcot-Marie-Tooth neuropathy type 4G; CMT4G; autosomal recessive Charcot-Marie-Tooth disease type 4G; hereditary motor and sensory neuropathy Russe type; HMSNR
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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.
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Charcot-Marie-Tooth disease dominant intermediate B
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CMTDIB; CMTDI1; Charcot-Marie-Tooth neuropathy dom..
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CMTDI1; CMTDIB; Charcot-Marie-Tooth neuropathy dominant intermediate B; DI-CMTB
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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).
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Charcot-Marie-Tooth disease recessive intermediate C
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CMTRIC; RI-CMT type C; RI-CMTC; autosomal recessiv..
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CMTRIC; RI-CMT type C; RI-CMTC; autosomal recessive intermediate Charcot-Marie-Tooth disease type C
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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.
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Charcot-Marie-Tooth disease dominant intermediate C
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Charcot-Marie-Tooth neuropathy dominant intermedia..
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Charcot-Marie-Tooth neuropathy dominant intermediate C; CMTDIC; autosomal dominant intermediate Charcot-Marie-Tooth disease type C; DI-CMTC
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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.
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Charcot-Marie-Tooth disease dominant intermediate D
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CMTDID; Charcot-Marie-Tooth neuropathy dominant in..
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CMTDID; Charcot-Marie-Tooth neuropathy dominant intermediate D; autosomal dominant intermediate Charcot-Marie-Tooth disease type D; DI-CMTD
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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.
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Charcot-Marie-Tooth disease recessive intermediate A
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CMTRIA; Charcot-Marie-Tooth neuropathy recessive i..
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CMTRIA; Charcot-Marie-Tooth neuropathy recessive intermediate A; autosomal recessive intermediate Charcot-Marie-Tooth disease type A; RI-CMTA
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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.
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Charcot-Marie-Tooth disease dominant intermediate A
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CMTDIA; Charcot-Marie-Tooth neuropathy dominant in..
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CMTDIA; Charcot-Marie-Tooth neuropathy dominant intermediate A; autosomal dominant intermediate Charcot-Marie-Tooth disease type A; DI-CMTA
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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.
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Charcot-Marie-Tooth disease recessive intermediate D
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CMTRID; autosomal recessive intermediate Charcot-M..
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CMTRID; autosomal recessive intermediate Charcot-Marie-Tooth disease type D; RI-CMT type D
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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.
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Charcot-Marie-Tooth disease recessive intermediate B
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Charcot-Marie-Tooth neuropathy recessive intermedi..
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Charcot-Marie-Tooth neuropathy recessive intermediate B; CMTRIB; autosomal recessive intermediate Charcot-Marie-Tooth disease type B; RI-CMTB
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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.
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Charcot-Marie-Tooth disease dominant intermediate E
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Charcot-Marie-Tooth neuropathy with focal segmenta..
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Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis; CMTDIE; Charcot-Marie-Tooth disease-nephropathy syndrome; autosomal dominant intermediate Charcot-Marie-Tooth disease type E
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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.
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Charcot-Marie-Tooth disease dominant intermediate F
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CMTDIF; autosomal dominant intermediate Charcot-Ma..
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CMTDIF; autosomal dominant intermediate Charcot-Marie-Tooth disease type F
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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.
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Charcot-Marie-Tooth disease X-linked dominant 6
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CMT6X; CMTX6; Charcot-Marie-Tooth neuropathy X-lin..
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CMTX6; CMT6X; Charcot-Marie-Tooth neuropathy X-linked dominant 6; X-linked Charcot-Marie-Tooth disease type 6
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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.
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Charcot-Marie-Tooth disease X-linked recessive 2
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CMTX2; Charcot-Marie-Tooth neuropathy X-linked rec..
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CMTX2; Charcot-Marie-Tooth neuropathy X-linked recessive 2; X-linked Charcot-Marie-Tooth disease type 2
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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.
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Charcot-Marie-Tooth disease X-linked dominant 1
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CMT1X; CMTX1; Charcot-Marie-Tooth neuropathy X-lin..
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CMTX1; CMT1X; Charcot-Marie-Tooth neuropathy X-linked dominant 1; X-linked Charcot-Marie-Tooth disease type 1
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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.
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1 articles
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Charcot-Marie-Tooth disease X-linked recessive 5
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CMT5X; CMTX5; Charcot-Marie-Tooth neuropathy X-lin..
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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
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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.
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Charcot-Marie-Tooth disease X-linked recessive 3
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CMT3X; CMTX3; Charcot-Marie-Tooth neuropathy X-lin..
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CMTX3; CMT3X; Charcot-Marie-Tooth neuropathy X-linked recessive 3; X-linked Charcot-Marie-Tooth disease type 3
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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.
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Charcot-Marie-Tooth disease X-linked recessive 4
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CMTX4; Cowchock syndrome; CMT4X; COWCK; Charcot-Ma..
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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
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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.
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cleft soft palate
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cleft velum; cleft velum palatinum; soft cleft pal..
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cleft velum palatinum; cleft velum; soft cleft palate
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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.
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cataract 32 multiple types
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CTAA1; CTPP5; CTRCT32; anterior polar cataract 1; ..
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CTRCT32; CTPP5; CTAA1; anterior polar cataract 1; posterior polar cataract 5
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A cataract that has_material_basis_in mutation in .. [+]
A cataract that has_material_basis_in mutation in the region 14q22-q23.
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cataract 8 multiple types
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cataract, congenital, Volkmann type; CTRCT8; CCV
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A cataract that has_material_basis_in variation in.. [+]
A cataract that has_material_basis_in variation in the region 1pter-p36.13.
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cataract 6 multiple types
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CTPP1; CTRCT6; age related cortical cataract 2; AR..
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CTRCT6; CTPP1; age related cortical cataract 2; ARCC2; posterior polar cataract 1
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A cataract that has_material_basis_in heterozygous.. [+]
A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36.
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cataract 34 multiple types
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CATC3; CTRCT34; cataract 34 multiple types with or..
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CTRCT34; CATC3; cataract 34 multiple types with or without microcornea; autosomal recessive congenital cataract 3
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A cataract that has_material_basis_in variation in.. [+]
A cataract that has_material_basis_in variation in the region 1p34.3-p32.2.
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cataract 1 multiple types
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CZP1; CAE1; CTRCT1; cataract 1, multiple types, wi..
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CTRCT1; CAE1; CZP1; cataract 1, multiple types, with or without microcornea; zonular pulverulent cataract 1; Duffy linked cataract
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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.
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2 articles
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cataract 29
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cataract 29 coralliform
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A cataract that has_material_basis_in variation in.. [+]
A cataract that has_material_basis_in variation in the region 2pter-p24.
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cataract 27
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CTRCT27; cataract 27 nuclear progressive
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A cataract that has_material_basis_in mutation in .. [+]
A cataract that has_material_basis_in mutation in the region 2p12.
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cataract 4 multiple types
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CTRCT4; cataract 4 multiple types with or without ..
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CTRCT4; cataract 4 multiple types with or without microcornea; congenital cataract cerulean type 3; CCA3
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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.
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cataract 2 multiple types
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CTRCT2; cataract 2 multiple types with or without ..
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CTRCT2; cataract 2 multiple types with or without microcornea
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A cataract that has_material_basis_in heterozygous.. [+]
A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33.
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cataract 39 multiple types
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CTRCT39; autosomal dominant cataract 39 multiple t..
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CTRCT39; autosomal dominant cataract 39 multiple types
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A cataract that has_material_basis_in heterozygous.. [+]
A cataract that has_material_basis_in heterozygous mutation in the CRYGB gene on chromosome 2q34.
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cataract 42
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CTRCT42; A cataract that has_material_basis_in het..
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CTRCT42; A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35.
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A cataract that has_material_basis_in heterozygous.. [+]
A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35.
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cataract 18
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CATC2; CTRCT18; cataract 18 autosomal recessive; a..
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cataract 18 autosomal recessive; CTRCT18; CATC2; autosomal recessive congenital cataract 2
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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.
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cataract 12 multiple types
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CTRCT12
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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.
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cataract 20 multiple types
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CTRCT20
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A cataract that has_material_basis_in heterozygous.. [+]
A cataract that has_material_basis_in heterozygous mutation in the CRYGS gene on chromosome 3q27.
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cataract 41
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CTRCT41; congenital nuclear type cataract 41
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A cataract that has_material_basis_in heterozygous.. [+]
A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16.
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cataract 13 with adult i phenotype
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CTRCT13
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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.
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cataract 46 juvenile-onset
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CTRCT46; juvenilae cataract Hutterite type
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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.
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cataract 28
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CTRCT28; age-related cortical cataract 1; ARCC1
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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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