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Disease	Synonyms	Description
congenital muscular dystrophy 1B	CMD1B; congenital muscular dystrophy type 1B; MDC1.. [+] congenital muscular dystrophy type 1B; CMD1B; MDC1B [-]	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. [-]
congenital merosin-deficient muscular dystrophy 1A	congenital muscular dystrophy due to laminin alpha.. [+] congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; MDC1A; Merosin-negative congenital muscular dystrophy [-]	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. [-]
congenital muscular dystrophy merosin-positive		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. [-]
congenital muscular dystrophy due to integrin alpha-7 deficiency	congenital myopathy due to integrin alpha-7 defici.. [+] congenital myopathy due to integrin alpha-7 deficiency; congenital muscular dystrophy with ITGA7 deficiency; congenital muscular dystrophy with integrin alpha-7 deficiency [-]	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. [-]
congenital muscular dystrophy due to LMNA mutation	congenital muscular dystrophy LMNA-related; L-CMD; .. [+] congenital muscular dystrophy LMNA-related; L-CMD; LMNA-related congenital muscular dystrophy [-]	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. [-]
congenital myasthenic syndrome 8	congenital myasthenic syndrome due to agrin defici.. [+] congenital myasthenic syndrome due to agrin deficiency; congenital myasthenic syndrome 8 with pre- and postsynaptic defects; CMS8 [-]	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. [-]
congenital myasthenic syndrome 15	congenital myasthenic syndrome 15 without tubular .. [+] congenital myasthenic syndrome 15 without tubular aggregates; CMS15 [-]	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. [-]
congenital myasthenic syndrome 7	congenital myasthenic syndrome 7 presynaptic; CMS7.. [+] congenital myasthenic syndrome 7 presynaptic; CMS7 [-]	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. [-]
congenital myasthenic syndrome 12	congenital myasthenia 12 with tubular aggregates; .. [+] congenital myasthenia 12 with tubular aggregates; CMS12 [-]	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. [-]
congenital myasthenic syndrome 20	congenital myasthenic syndrome 20 presynaptic; CMS.. [+] congenital myasthenic syndrome 20 presynaptic; CMS20 [-]	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. [-]
congenital myasthenic syndrome 1B	congenital myasthenic syndrome 1B, fast-channel; C.. [+] congenital myasthenic syndrome 1B, fast-channel; CMS1B [-]	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. [-]
congenital myasthenic syndrome 1A	congenital myasthenic syndrome type IIa; congenita.. [+] congenital myasthenic syndrome type IIa; congenital myasthenic syndrome 1A, slow-channel; CMS2A; CMS1A; CMS IIa [-]	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. [-]
congenital myasthenic syndrome 3C	congenital myasthenic syndrome 3C associated with .. [+] congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency [-]	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. [-]
congenital myasthenic syndrome 3B	congenital myasthenic syndrome 3B, fast-channel; C.. [+] congenital myasthenic syndrome 3B, fast-channel; CMS3B [-]	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. [-]
congenital myasthenic syndrome 3A	congenital myasthenic syndrome 3A, slow-channel; C.. [+] congenital myasthenic syndrome 3A, slow-channel; CMS3A [-]	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. [-]
congenital myasthenic syndrome 5	congenital myasthenic syndrome type Ic; congenital.. [+] congenital myasthenic syndrome type Ic; congenital myasthenic syndrome Engel type; CMS5; CMS Ic; EAD; end plate acetylcholinesterase deficiency; Engel congenital myasthenic syndrome [-]	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. [-]
congenital myasthenic syndrome 10	CMS1B; congenital myasthenic syndrome type Ib; CMS.. [+] congenital myasthenic syndrome type Ib; CMS1B; CMS10; CMS Ib; familial limb-girdle myasthenia; LGM [-]	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. [-]
congenital myasthenic syndrome 14	congenital myasthenic syndrome with tubular aggreg.. [+] congenital myasthenic syndrome with tubular aggregates 3; congenital myasthenic syndrome 14, with tubular aggregates; CMSTA3; CMS14 [-]	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. [-]
congenital myasthenic syndrome 9	congenital myasthenic syndrome 9, associated with .. [+] congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency; CMS9 [-]	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. [-]
congenital myasthenic syndrome 6	congenital presynaptic myasthenic syndrome associa.. [+] 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 [-]	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. [-]
congenital myasthenic syndrome 21	congenital myasthenic syndrome 21, presynaptic; CM.. [+] congenital myasthenic syndrome 21, presynaptic; CMS21 [-]	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. [-]
congenital myasthenic syndrome 19	CMS19	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. [-]
congenital myasthenic syndrome 17	CMS17	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. [-]
congenital myasthenic syndrome 11	congenital myasthenic syndrome 1e; congenital myas.. [+] congenital myasthenic syndrome 1e; congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency; CMS1E; CMS11; CMS Ie [-]	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. [-]
congenital myasthenic syndrome 13	congenital myasthenic syndrome with tubular aggreg.. [+] congenital myasthenic syndrome with tubular aggregates 2; congenital myasthenic syndrome 13 with tubular aggregates; CMSTA2; CMS13 [-]	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. [-]
congenital myasthenic syndrome 4B	congenital myasthenic syndrome 4B fast-channel; CM.. [+] congenital myasthenic syndrome 4B fast-channel; CMS4B [-]	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. [-]
congenital myasthenic syndrome 4A	congenital myasthenic syndrometype Ia1; congenital.. [+] congenital myasthenic syndrometype Ia1; congenital myasthenic syndrome 4A slow-channel; CMS4A; CMS1A1; CMS Ia1 [-]	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. [-]
congenital myasthenic syndrome 4C	congenital myasthenic syndrome type Id; congenital.. [+] congenital myasthenic syndrome type Id; congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency; CMS4C; CMS1D; CMS Id; familial infantile myasthenia 1; FIM1 [-]	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. [-]
congenital myasthenic syndrome 2C	congenital myasthenic syndrome 2C associated with .. [+] congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency; CMS2C [-]	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. [-]
congenital myasthenic syndrome 2A	congenital myasthenic syndrome 2A slow-channel; CM.. [+] congenital myasthenic syndrome 2A slow-channel; CMS2A [-]	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. [-]
congenital myasthenic syndrome 16	congenital myasthenic syndrome acetazolamide-respo.. [+] congenital myasthenic syndrome acetazolamide-responsive; CMS16 [-]	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 [-]
congenital myasthenic syndrome 18	CMS18	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. [-]
congenital hypotrichosis with juvenile macular dystrophy	Hjmd; hypotrichosis with cone-rod dystrophy	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. [-]
congenital stationary night blindness 1G	CSNB1G; congenital stationary night blindness type.. [+] CSNB1G; congenital stationary night blindness type 1G [-]	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. [-]
congenital stationary night blindness autosomal dominant 3	CSNBAD3; Nougaret type congenital stationary night.. [+] CSNBAD3; Nougaret type congenital stationary night blindness [-]	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. [-]
congenital stationary night blindness autosomal dominant 1	CSNBAD1; rhodopsin-related congenital stationary n.. [+] CSNBAD1; rhodopsin-related congenital stationary night blindness [-]	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. [-]
congenital stationary night blindness autosomal dominant 2	CSNBAD2; Rambusch type congenital stationary night.. [+] CSNBAD2; Rambusch type congenital stationary night blindness [-]	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. [-]
congenital stationary night blindness 1F	CSNB1F; congenital stationary night blindness 1F a.. [+] CSNB1F; congenital stationary night blindness 1F autosomal recessive [-]	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. [-]
congenital stationary night blindness 1B	CSNB1B; congenital stationary night blindness 1B a.. [+] CSNB1B; congenital stationary night blindness 1B autosomal recessive; autosomal recessive complete congenital stationary night blindness [-]	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. [-]
congenital stationary night blindness 1H	CSNB1H; congenital stationary night blindness type.. [+] CSNB1H; congenital stationary night blindness type 1H [-]	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. [-]
congenital stationary night blindness 1C	CSNB1C; congenital stationary night blindness 1C a.. [+] CSNB1C; congenital stationary night blindness 1C autosomal recessive [-]	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. [-]
congenital stationary night blindness 1D	CSNB1D; congenital stationary night blindness 1D a.. [+] CSNB1D; congenital stationary night blindness 1D autosomal recessive [-]	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. [-]
congenital stationary night blindness 1E	CSNB1E; congenital stationary night blindness 1E a.. [+] CSNB1E; congenital stationary night blindness 1E autosomal recessive [-]	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. [-]
congenital stationary night blindness 1A	CSNB1A; congenital stationary night blindness with.. [+] CSNB1A; congenital stationary night blindness with myopia; congenital stationary night blindness 1A X-linked; complete CSNB X-linked; hemeralopia-myopia; myopia-night blindness; NBMI [-]	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. [-]
congenital stationary night blindness 2A	congenital stationary night blindness 2A X-linked; .. [+] congenital stationary night blindness 2A X-linked [-]	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. [-]
childhood hypophosphatasia		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. [-]
cone-rod dystrophy 2	cone-rod retinal dystrophy 2; CORD2; CRD2; RCRD2; .. [+] CRD2; CORD2; cone-rod retinal dystrophy 2; RCRD2; retinal cone-rod dystrophy 2 [-]	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. [-]
cone-rod dystrophy 1	CRD1; CORD1	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. [-]
cone-rod dystrophy 5	CORD5	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. [-]
cone-rod dystrophy 6	CORD6; RCD2; retinal cone dystrophy 2	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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