Echinobase

Search Diseases

Alphabetic Search:

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

???pagination.result.count???

???pagination.result.page??? ???pagination.result.prev??? 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 ???pagination.result.next???

Disease	Synonyms	Description
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; Rosenberg-Chutorian syndrome; X-linked Charcot-Marie-Tooth disease type 5 [-]	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	CMT4X; CMTX4; Cowchock syndrome; COWCK; Charcot-Ma.. [+] COWCK; Cowchock syndrome; CMTX4; CMT4X; 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 [-]	Cleft velum is a fissure type embryopathy that aff..[+] Cleft velum is 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	CTRCT8; CCV; cataract, congenital, Volkmann type	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	CTRCT1; CZP1; cataract 1, multiple types, with or .. [+] CZP1; CTRCT1; cataract 1, multiple types, with or without microcornea; CAE1; Duffy linked cataract; zonular pulverulent cataract 1 [-]	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. [-]
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	CCA3; congenital cataract cerulean type 3; CTRCT4; .. [+] CTRCT4; congenital cataract cerulean type 3; CCA3; cataract 4 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 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 heterozygou..[+] 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. [-]	n_a
cataract 18	cataract 18 autosomal recessive; CATC2; CTRCT18; a.. [+] CTRCT18; CATC2; cataract 18 autosomal recessive; 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. [-]
cataract 38	CATC5; CTRCT38; autosomal recessive congenital cat.. [+] CTRCT38; CATC5; autosomal recessive congenital cataract 5 [-]	A cataract that has_material_basis_in homozygous m..[+] A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34. [-]
cataract 26 multiple types	CTRCT26	A cataract that has_material_basis_in variation in..[+] A cataract that has_material_basis_in variation in the region 9q13-q22. [-]
cataract 36	CATC4; CTRCT36; autosomal recessive congenital cat.. [+] CTRCT36; CATC4; autosomal recessive congenital cataract 4 [-]	A cataract that has_material_basis_in homozygous m..[+] A cataract that has_material_basis_in homozygous mutation in the TDRD7 gene on chromosome 9q22.33. [-]
cataract 30	cataract Coppock-like; CTRCT30; cataract 30 pulver.. [+] CTRCT30; cataract Coppock-like; cataract 30 pulverulent; Dusty cataract [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13. [-]
cataract 11 multiple types	CTRCT11; CTPP4; CPP4; posterior polar cataract 4	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. [-]
cataract 16 multiple types	CTRCT16; CTPP2; posterior polar cataract 2	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q. [-]
cataract 15 multiple types	CTRCT15	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the MIP gene on chromosome 12q13. [-]
cataract 37	congenital cataract cerulean type 5; CTRCT37; CCA5.. [+] CTRCT37; congenital cataract cerulean type 5; CCA5 [-]	A cataract that has_material_basis_in variation in..[+] A cataract that has_material_basis_in variation in the region 12q24.2-q24.3. [-]
cataract 14 multiple types	CAE3; CTRCT14; CZP3; zonular pulverulent cataract .. [+] CZP3; CTRCT14; CAE3; zonular pulverulent cataract 3 [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12. [-]
cataract 25	CTRCT25; central saccular cataract with sutural op.. [+] CTRCT25; central saccular cataract with sutural opacities; central pouch-like cataract with sutural opacities; CCSSO; early-onset cataract with Y-shaped suture opacities [-]	A cataract that has_material_basis_in variation in..[+] A cataract that has_material_basis_in variation in the region 15q21-q22. [-]
cataract 5 multiple types	CTRCT5	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22. [-]
cataract 21 multiple types	congenital cataract Cerulean type 4; CTRCT21; CCA4.. [+] CTRCT21; congenital cataract Cerulean type 4; CCA4; cataract 21 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 MAF gene on chromosome 16q23. [-]
cataract 24	CTAA2; CTRCT24; anterior polar cataract 2; anterio.. [+] CTRCT24; CTAA2; anterior polar cataract 2; anterior polar cataract 24 [-]	A cataract that has_material_basis_in variation in..[+] A cataract that has_material_basis_in variation in the region 17p13. [-]
cataract 10 multiple types	CTRCT10; congenital zonular cataract with sutural .. [+] CTRCT10; congenital zonular cataract with sutural opacities; CCZS [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the CRYBA1 gene on chromosome 17q11. [-]
cataract 43	CTRCT43	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the UNC45B gene on chromosome 17q12. [-]
cataract 7	congenital Cerulean type cataract 1; CTRCT7; Cerul.. [+] CTRCT7; congenital Cerulean type cataract 1; Cerulean type cataract 7; CCA1 [-]	A cataract that has_material_basis_in variation in..[+] A cataract that has_material_basis_in variation in the region 17q24. [-]
cataract 35	cataract 35, congenital nuclear; CATCN1; CTRCT35; .. [+] CTRCT35; CATCN1; cataract 35, congenital nuclear; autosomal recessive congenital nuclear cataract 1 [-]	A cataract that has_material_basis_in variation in..[+] A cataract that has_material_basis_in variation in the region 19q13. [-]
cataract 45	CTRCT45	A cataract that has_material_basis_in homozygous m..[+] A cataract that has_material_basis_in homozygous mutation in the SIPA1L3 gene on chromosome 19q13. [-]
cataract 19 multiple types	CTRCT19	A cataract that has_material_basis_in homozygous m..[+] A cataract that has_material_basis_in homozygous mutation in the LIM2 gene on chromosome 19q13. [-]
cataract 33	CTRCT33; cortical cataract 33	A cataract that has_material_basis_in homozygous m..[+] A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12. [-]
cataract 31 multiple types	CTRCT31; CTPP3; CPP3; posterior polar cataract 3	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11. [-]
cataract 9 multiple types	CATC1; CTRCT9; cataract 9 multiple types with or w.. [+] CTRCT9; CATC1; cataract 9 multiple types with or without microcornea; autosomal recessive congenital cataract 1 [-]	A cataract that has_material_basis_in autosomal re..[+] A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22. [-]
cataract 44	CTRCT44; total early-onset cataract	A cataract that has_material_basis_in homozygous m..[+] A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22. [-]
cataract 22 multiple types	CATCN2; CTRCT22; autosomal recessive congenital nu.. [+] CTRCT22; CATCN2; autosomal recessive congenital nuclear cataract 2 [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11. [-]
cataract 3 multiple types	CCA2; congenital Cerulean type cataract 2; CTRCT3; .. [+] CTRCT3; congenital Cerulean type cataract 2; CCA2; cataract 3 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 beta-B2-crystallin gene (CRYBB2) on chromosome 22q11. [-]
cataract 17 multiple types	CATCN3; CTRCT17; autosomal recessive congenital nu.. [+] CTRCT17; CATCN3; autosomal recessive congenital nuclear cataract 3 [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12. [-]
cataract 23	CTRCT23; lamellar cataract 23	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12. [-]
cataract 40	cataract 40 X-linked; CTRCT40; cataract 40 with or.. [+] CTRCT40; cataract 40 X-linked; cataract 40 with or without microcornea [-]	A cataract that has_material_basis_in mutation in ..[+] A cataract that has_material_basis_in mutation in the NHS gene on chromosome Xp22. [-]

???pagination.result.page??? ???pagination.result.prev??? 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 ???pagination.result.next???