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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
cataract 38
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CATC5; CTRCT38; autosomal recessive congenital cat..
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CTRCT38; CATC5; autosomal recessive congenital cataract 5
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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.
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cataract 26 multiple types
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CTRCT26
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A cataract that has_material_basis_in variation in.. [+]
A cataract that has_material_basis_in variation in the region 9q13-q22.
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cataract 36
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CATC4; CTRCT36; autosomal recessive congenital cat..
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CTRCT36; CATC4; autosomal recessive congenital cataract 4
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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.
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1 articles
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9 matches
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cataract 30
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CTRCT30; cataract Coppock-like; cataract 30 pulver..
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cataract Coppock-like; CTRCT30; cataract 30 pulverulent; Dusty cataract
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A cataract that has_material_basis_in heterozygous.. [+]
A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13.
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cataract 11 multiple types
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CTRCT11; CTPP4; CPP4; posterior polar cataract 4
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A cataract that has_material_basis_in heterozygous.. [+]
A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24.
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cataract 16 multiple types
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CTPP2; CTRCT16; posterior polar cataract 2
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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.
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cataract 15 multiple types
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CTRCT15
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A cataract that has_material_basis_in heterozygous.. [+]
A cataract that has_material_basis_in heterozygous mutation in the MIP gene on chromosome 12q13.
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2 articles
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cataract 37
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CCA5; congenital cataract cerulean type 5; CTRCT37..
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congenital cataract cerulean type 5; CCA5; CTRCT37
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A cataract that has_material_basis_in variation in.. [+]
A cataract that has_material_basis_in variation in the region 12q24.2-q24.3.
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cataract 14 multiple types
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CTRCT14; CZP3; CAE3; zonular pulverulent cataract ..
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CAE3; CZP3; CTRCT14; zonular pulverulent cataract 3
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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 gap junction protein alpha-3 (GJA3) on chromosome 13q12.
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2 articles
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cataract 25
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CTRCT25; central saccular cataract with sutural op..
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CTRCT25; central saccular cataract with sutural opacities; central pouch-like cataract with sutural opacities; CCSSO; early-onset cataract with Y-shaped suture opacities
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A cataract that has_material_basis_in variation in.. [+]
A cataract that has_material_basis_in variation in the region 15q21-q22.
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cataract 5 multiple types
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CTRCT5
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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.
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cataract 21 multiple types
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CCA4; congenital cataract Cerulean type 4; CTRCT21..
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congenital cataract Cerulean type 4; CCA4; CTRCT21; cataract 21 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 MAF gene on chromosome 16q23.
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cataract 24
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CTAA2; CTRCT24; anterior polar cataract 24; anteri..
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CTRCT24; CTAA2; anterior polar cataract 24; anterior polar cataract 2
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A cataract that has_material_basis_in variation in.. [+]
A cataract that has_material_basis_in variation in the region 17p13.
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cataract 10 multiple types
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CTRCT10; congenital zonular cataract with sutural ..
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CTRCT10; congenital zonular cataract with sutural opacities; CCZS
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A cataract that has_material_basis_in heterozygous.. [+]
A cataract that has_material_basis_in heterozygous mutation in the CRYBA1 gene on chromosome 17q11.
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cataract 43
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CTRCT43
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A cataract that has_material_basis_in heterozygous.. [+]
A cataract that has_material_basis_in heterozygous mutation in the UNC45B gene on chromosome 17q12.
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1 articles
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cataract 7
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CTRCT7; congenital Cerulean type cataract 1; Cerul..
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congenital Cerulean type cataract 1; CTRCT7; Cerulean type cataract 7; CCA1
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A cataract that has_material_basis_in variation in.. [+]
A cataract that has_material_basis_in variation in the region 17q24.
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cataract 35
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CATCN1; CTRCT35; cataract 35, congenital nuclear; ..
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cataract 35, congenital nuclear; CTRCT35; CATCN1; autosomal recessive congenital nuclear cataract 1
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A cataract that has_material_basis_in variation in.. [+]
A cataract that has_material_basis_in variation in the region 19q13.
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cataract 45
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CTRCT45
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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.
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1 articles
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7 matches
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cataract 19 multiple types
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CTRCT19
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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.
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cataract 33
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CTRCT33; cortical cataract 33
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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.
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cataract 31 multiple types
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CPP3; CTRCT31; CTPP3; posterior polar cataract 3
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A cataract that has_material_basis_in heterozygous.. [+]
A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11.
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cataract 9 multiple types
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CTRCT9; CATC1; cataract 9 multiple types with or w..
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CATC1; CTRCT9; cataract 9 multiple types with or without microcornea; autosomal recessive congenital cataract 1
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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.
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cataract 44
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CTRCT44; total early-onset cataract
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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.
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cataract 22 multiple types
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CATCN2; CTRCT22; autosomal recessive congenital nu..
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CTRCT22; CATCN2; autosomal recessive congenital nuclear cataract 2
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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.
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cataract 3 multiple types
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CTRCT3; CCA2; congenital Cerulean type cataract 2; ..
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congenital Cerulean type cataract 2; CCA2; CTRCT3; cataract 3 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 beta-B2-crystallin gene (CRYBB2) on chromosome 22q11.
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cataract 17 multiple types
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CATCN3; CTRCT17; autosomal recessive congenital nu..
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CTRCT17; CATCN3; autosomal recessive congenital nuclear cataract 3
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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.
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cataract 23
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CTRCT23; lamellar cataract 23
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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.
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cataract 40
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CTRCT40; cataract 40 with or without microcornea; ..
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cataract 40 with or without microcornea; CTRCT40; cataract 40 X-linked
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A cataract that has_material_basis_in mutation in .. [+]
A cataract that has_material_basis_in mutation in the NHS gene on chromosome Xp22.
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congenital muscular dystrophy 1B
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congenital muscular dystrophy type 1B; CMD1B; MDC1..
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CMD1B; congenital muscular dystrophy type 1B; MDC1B
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A congenital muscular dystrophy characterized by a.. [+]
A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42.
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congenital merosin-deficient muscular dystrophy 1A
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congenital muscular dystrophy due to laminin alpha..
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congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; MDC1A; Merosin-negative congenital muscular dystrophy
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A congenital muscular dystrophy characterized by a.. [+]
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.
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congenital muscular dystrophy due to integrin alpha-7 deficiency
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congenital muscular dystrophy with ITGA7 deficienc..
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congenital muscular dystrophy with ITGA7 deficiency; congenital myopathy due to integrin alpha-7 deficiency; congenital muscular dystrophy with integrin alpha-7 deficiency
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A congenital muscular dystrophy characterized by a.. [+]
A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13.
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congenital muscular dystrophy due to LMNA mutation
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congenital muscular dystrophy LMNA-related; L-CMD; ..
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congenital muscular dystrophy LMNA-related; L-CMD; LMNA-related congenital muscular dystrophy
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A congenital muscular dystrophy characterized by a.. [+]
A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
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congenital myasthenic syndrome 8
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congenital myasthenic syndrome due to agrin defici..
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congenital myasthenic syndrome due to agrin deficiency; congenital myasthenic syndrome 8 with pre- and postsynaptic defects; CMS8
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p.
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congenital myasthenic syndrome 15
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congenital myasthenic syndrome 15 without tubular ..
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congenital myasthenic syndrome 15 without tubular aggregates; CMS15
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21.
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congenital myasthenic syndrome 7
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congenital myasthenic syndrome 7 presynaptic; CMS7..
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congenital myasthenic syndrome 7 presynaptic; CMS7
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32.
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congenital myasthenic syndrome 12
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congenital myasthenia 12 with tubular aggregates; ..
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congenital myasthenia 12 with tubular aggregates; CMS12
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13.
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congenital myasthenic syndrome 20
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congenital myasthenic syndrome 20 presynaptic; CMS..
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congenital myasthenic syndrome 20 presynaptic; CMS20
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12.
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congenital myasthenic syndrome 1B
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congenital myasthenic syndrome 1B, fast-channel; C..
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congenital myasthenic syndrome 1B, fast-channel; CMS1B
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.
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congenital myasthenic syndrome 1A
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congenital myasthenic syndrome type IIa; congenita..
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congenital myasthenic syndrome type IIa; congenital myasthenic syndrome 1A, slow-channel; CMS2A; CMS1A; CMS IIa
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.
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congenital myasthenic syndrome 3C
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congenital myasthenic syndrome 3C associated with ..
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congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37.
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congenital myasthenic syndrome 3B
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congenital myasthenic syndrome 3B, fast-channel; C..
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congenital myasthenic syndrome 3B, fast-channel; CMS3B
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.
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congenital myasthenic syndrome 3A
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congenital myasthenic syndrome 3A, slow-channel; C..
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congenital myasthenic syndrome 3A, slow-channel; CMS3A
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37.
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congenital myasthenic syndrome 5
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congenital myasthenic syndrome Engel type; congeni..
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congenital myasthenic syndrome Engel type; congenital myasthenic syndrome type Ic; CMS5; CMS Ic; EAD; end plate acetylcholinesterase deficiency; Engel congenital myasthenic syndrome
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25.
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congenital myasthenic syndrome 10
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congenital muscular dystrophy merosin-positive; co..
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congenital muscular dystrophy merosin-positive; congenital myasthenic syndrome type Ib; CMS1B; CMS10; CMS Ib; LGM; familial limb-girdle myasthenia
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3.
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congenital myasthenic syndrome 14
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congenital myasthenic syndrome with tubular aggreg..
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congenital myasthenic syndrome with tubular aggregates 3; congenital myasthenic syndrome 14, with tubular aggregates; CMSTA3; CMS14
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22.
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congenital myasthenic syndrome 9
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CMS9; congenital myasthenic syndrome 9, associated..
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CMS9; congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.
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congenital myasthenic syndrome 6
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congenital myasthenic syndrome 6, presynaptic; CMS..
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congenital myasthenic syndrome 6, presynaptic; CMS1A2; congenital presynaptic myasthenic syndrome associated with episodic apnea; congenital myasthenic syndrome type Ia2; CMSEA; CMS6; CMS Ia2; familial infantile myasthenia; FIM; FIMG2; familial infantile myasthenia gravis 2
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q.
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congenital myasthenic syndrome 21
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congenital myasthenic syndrome 21, presynaptic; CM..
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congenital myasthenic syndrome 21, presynaptic; CMS21
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11.
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congenital myasthenic syndrome 19
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CMS19
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22.
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congenital myasthenic syndrome 17
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CMS17
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A congenital myasthenic syndrome that has_material.. [+]
A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11.
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