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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
congenital muscular dystrophy 1B
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CMD1B; congenital muscular dystrophy type 1B; MDC1..
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congenital muscular dystrophy type 1B; CMD1B; 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 merosin-positive
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A congenital muscular dystrophy characterized by a.. [+]
A congenital muscular dystrophy characterized by autosomal recessive inheritance of generalized muscle weakness and hypotonia without arthrogryposis or central nervous system involvement that has_material_basis_in mutation in the chromosome region 4p16.3.
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congenital muscular dystrophy due to integrin alpha-7 deficiency
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congenital myopathy due to integrin alpha-7 defici..
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congenital myopathy due to integrin alpha-7 deficiency; congenital muscular dystrophy with ITGA7 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 type Ic; congenital..
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congenital myasthenic syndrome type Ic; congenital myasthenic syndrome Engel type; 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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CMS1B; congenital myasthenic syndrome type Ib; CMS..
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congenital myasthenic syndrome type Ib; CMS1B; CMS10; CMS Ib; familial limb-girdle myasthenia; LGM
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by autosomal 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 4p.
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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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congenital myasthenic syndrome 9, associated with ..
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congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency; CMS9
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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 presynaptic myasthenic syndrome associa..
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congenital presynaptic myasthenic syndrome associated with episodic apnea; congenital myasthenic syndrome type Ia2; congenital myasthenic syndrome 6, presynaptic; CMSEA; CMS6; CMS1A2; CMS Ia2; familial infantile myasthenia; familial infantile myasthenia gravis 2; FIM; FIMG2
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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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congenital myasthenic syndrome 11
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congenital myasthenic syndrome 1e; congenital myas..
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congenital myasthenic syndrome 1e; congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency; CMS1E; CMS11; CMS Ie
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of AChR at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.
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congenital myasthenic syndrome 13
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congenital myasthenic syndrome with tubular aggreg..
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congenital myasthenic syndrome with tubular aggregates 2; congenital myasthenic syndrome 13 with tubular aggregates; CMSTA2; CMS13
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23.
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congenital myasthenic syndrome 4B
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congenital myasthenic syndrome 4B fast-channel; CM..
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congenital myasthenic syndrome 4B fast-channel; CMS4B
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
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congenital myasthenic syndrome 4A
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congenital myasthenic syndrometype Ia1; congenital..
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congenital myasthenic syndrometype Ia1; congenital myasthenic syndrome 4A slow-channel; CMS4A; CMS1A1; CMS Ia1
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.
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congenital myasthenic syndrome 4C
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congenital myasthenic syndrome type Id; congenital..
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congenital myasthenic syndrome type Id; congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency; CMS4C; CMS1D; CMS Id; familial infantile myasthenia 1; FIM1
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
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congenital myasthenic syndrome 2C
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congenital myasthenic syndrome 2C associated with ..
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congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency; CMS2C
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.
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congenital myasthenic syndrome 2A
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congenital myasthenic syndrome 2A slow-channel; CM..
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congenital myasthenic syndrome 2A slow-channel; CMS2A
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.
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congenital myasthenic syndrome 16
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congenital myasthenic syndrome acetazolamide-respo..
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congenital myasthenic syndrome acetazolamide-responsive; CMS16
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A congenital myasthenic syndrome that has_material.. [+]
A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23
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congenital myasthenic syndrome 18
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CMS18
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11.
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congenital hypotrichosis with juvenile macular dystrophy
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Hjmd; hypotrichosis with cone-rod dystrophy
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A hypotrichosis that has_material_basis_in a autos.. [+]
A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1.
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congenital stationary night blindness 1G
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CSNB1G; congenital stationary night blindness type..
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CSNB1G; congenital stationary night blindness type 1G
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A congenital stationary night blindness characteri.. [+]
A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21.
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congenital stationary night blindness autosomal dominant 3
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CSNBAD3; Nougaret type congenital stationary night..
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CSNBAD3; Nougaret type congenital stationary night blindness
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A congenital stationary night blindness characteri.. [+]
A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21.
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congenital stationary night blindness autosomal dominant 1
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CSNBAD1; rhodopsin-related congenital stationary n..
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CSNBAD1; rhodopsin-related congenital stationary night blindness
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A congenital stationary night blindness characteri.. [+]
A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1.
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congenital stationary night blindness autosomal dominant 2
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CSNBAD2; Rambusch type congenital stationary night..
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CSNBAD2; Rambusch type congenital stationary night blindness
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A congenital stationary night blindness characteri.. [+]
A congenital stationary night blindness characterized by autosomal dominant inhertance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16.
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congenital stationary night blindness 1F
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CSNB1F; congenital stationary night blindness 1F a..
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CSNB1F; congenital stationary night blindness 1F autosomal recessive
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A congenital stationary night blindness characteri.. [+]
A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25.
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congenital stationary night blindness 1B
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CSNB1B; congenital stationary night blindness 1B a..
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CSNB1B; congenital stationary night blindness 1B autosomal recessive; autosomal recessive complete congenital stationary night blindness
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A congenital stationary night blindness characteri.. [+]
A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35.
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congenital stationary night blindness 1H
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CSNB1H; congenital stationary night blindness type..
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CSNB1H; congenital stationary night blindness type 1H
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A congenital stationary night blindness characteri.. [+]
A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13.
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congenital stationary night blindness 1C
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CSNB1C; congenital stationary night blindness 1C a..
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CSNB1C; congenital stationary night blindness 1C autosomal recessive
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A congenital stationary night blindness characteri.. [+]
A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14.
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congenital stationary night blindness 1D
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CSNB1D; congenital stationary night blindness 1D a..
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CSNB1D; congenital stationary night blindness 1D autosomal recessive
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A congenital stationary night blindness characteri.. [+]
A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SLC24A1 gene on chromosome 15q22.
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congenital stationary night blindness 1E
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CSNB1E; congenital stationary night blindness 1E a..
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CSNB1E; congenital stationary night blindness 1E autosomal recessive
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A congenital stationary night blindness characteri.. [+]
A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12.
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congenital stationary night blindness 1A
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CSNB1A; congenital stationary night blindness with..
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CSNB1A; congenital stationary night blindness with myopia; congenital stationary night blindness 1A X-linked; complete CSNB X-linked; hemeralopia-myopia; myopia-night blindness; NBMI
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A congenital stationary night blindness that has_m.. [+]
A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4.
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congenital stationary night blindness 2A
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congenital stationary night blindness 2A X-linked; ..
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congenital stationary night blindness 2A X-linked
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A congenital stationary night blindness that has_m.. [+]
A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23.
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childhood hypophosphatasia
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A hypophosphatasia that has_material_basis_in an a.. [+]
A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of ALPL on chromosome 1p36.12.
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cone-rod dystrophy 2
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cone-rod retinal dystrophy 2; CORD2; CRD2; RCRD2; ..
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CRD2; CORD2; cone-rod retinal dystrophy 2; RCRD2; retinal cone-rod dystrophy 2
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A cone-rod dystrophy that has_material_basis_in he.. [+]
A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13.
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cone-rod dystrophy 1
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CRD1; CORD1
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A cone-rod dystrophy that has_material_basis_in va.. [+]
A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3.
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cone-rod dystrophy 5
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CORD5
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A cone-rod dystrophy that has_material_basis_in mu.. [+]
A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1.
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cone-rod dystrophy 6
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CORD6; RCD2; retinal cone dystrophy 2
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A cone-rod dystrophy that has_material_basis_in he.. [+]
A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1.
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