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Disease	Synonyms	Description	Articles	Phenotypes
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. [-]	1 articles	9 matches
cataract 30	CTRCT30; cataract Coppock-like; cataract 30 pulver.. [+] cataract Coppock-like; CTRCT30; 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	CTPP2; CTRCT16; 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. [-]	2 articles
cataract 37	CCA5; congenital cataract cerulean type 5; CTRCT37.. [+] congenital cataract cerulean type 5; CCA5; CTRCT37 [-]	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	CTRCT14; CZP3; CAE3; zonular pulverulent cataract .. [+] CAE3; CZP3; CTRCT14; 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. [-]	2 articles
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	CCA4; congenital cataract Cerulean type 4; CTRCT21.. [+] congenital cataract Cerulean type 4; CCA4; CTRCT21; 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 24; anteri.. [+] CTRCT24; CTAA2; anterior polar cataract 24; anterior polar cataract 2 [-]	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. [-]	1 articles
cataract 7	CTRCT7; congenital Cerulean type cataract 1; Cerul.. [+] congenital Cerulean type cataract 1; CTRCT7; 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	CATCN1; CTRCT35; cataract 35, congenital nuclear; .. [+] cataract 35, congenital nuclear; CTRCT35; CATCN1; 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. [-]	1 articles	7 matches
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	CPP3; CTRCT31; CTPP3; 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	CTRCT9; CATC1; cataract 9 multiple types with or w.. [+] CATC1; CTRCT9; 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	CTRCT3; CCA2; congenital Cerulean type cataract 2; .. [+] congenital Cerulean type cataract 2; CCA2; CTRCT3; 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	CTRCT40; cataract 40 with or without microcornea; .. [+] cataract 40 with or without microcornea; CTRCT40; cataract 40 X-linked [-]	A cataract that has_material_basis_in mutation in ..[+] A cataract that has_material_basis_in mutation in the NHS gene on chromosome Xp22. [-]
congenital muscular dystrophy 1B	congenital muscular dystrophy type 1B; CMD1B; MDC1.. [+] CMD1B; congenital muscular dystrophy type 1B; 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 due to integrin alpha-7 deficiency	congenital muscular dystrophy with ITGA7 deficienc.. [+] congenital muscular dystrophy with ITGA7 deficiency; congenital myopathy due to integrin alpha-7 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 Engel type; congeni.. [+] congenital myasthenic syndrome Engel type; congenital myasthenic syndrome type Ic; 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	congenital muscular dystrophy merosin-positive; co.. [+] congenital muscular dystrophy merosin-positive; congenital myasthenic syndrome type Ib; CMS1B; CMS10; CMS Ib; LGM; familial limb-girdle myasthenia [-]	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. [-]
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	CMS9; congenital myasthenic syndrome 9, associated.. [+] CMS9; congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency [-]	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 myasthenic syndrome 6, presynaptic; CMS.. [+] 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 [-]	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. [-]

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