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Disease	Synonyms	Description	Articles
congenital myasthenic syndrome 11	congenital myasthenic syndrome 1e; CMS1E; congenit.. [+] CMS1E; congenital myasthenic syndrome 1e; congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency; 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 Acetylcholine Receptor (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; CMS13; congenital myasthenic syndrome 13 with tubular aggregates; CMSTA2 [-]	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; CMS4A; con.. [+] CMS4A; congenital myasthenic syndrometype Ia1; congenital myasthenic syndrome 4A slow-channel; 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	CMS1D; congenital myasthenic syndrome type Id; con.. [+] congenital myasthenic syndrome type Id; CMS1D; congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency; CMS4C; 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 compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. [-]
congenital myasthenic syndrome 2A	CMS2A; congenital myasthenic syndrome 2A slow-chan.. [+] CMS2A; congenital myasthenic syndrome 2A slow-channel [-]	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	hypotrichosis with cone-rod dystrophy; Hjmd	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	congenital stationary night blindness type 1G; CSN.. [+] congenital stationary night blindness type 1G; CSNB1G [-]	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	congenital stationary night blindness 1D autosomal.. [+] congenital stationary night blindness 1D autosomal recessive; CSNB1D [-]	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; complete CSNB X-linked; congenital station.. [+] complete CSNB X-linked; CSNB1A; congenital stationary night blindness with myopia; congenital stationary night blindness 1A X-linked; myopia-night blindness; NBMI; hemeralopia-myopia [-]	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 the ALPL gene on chromosome 1p36.12. [-]
cone-rod dystrophy 2	cone-rod retinal dystrophy 2; CRD2; CORD2; RCRD2; .. [+] CORD2; CRD2; 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. [-]
cone-rod dystrophy 7	CORD7	A cone-rod dystrophy that has_material_basis_in va..[+] A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 6q13. [-]
cone-rod dystrophy 3	CORD3	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22. [-]	1 articles
cone-rod dystrophy 8	CORD8	A cone-rod dystrophy that has_material_basis_in va..[+] A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24. [-]
cone-rod dystrophy 13	CORD13	A cone-rod dystrophy that has_material_basis_in mu..[+] A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2. [-]
cone-rod dystrophy 10	CORD10	A cone-rod dystrophy that has_material_basis_in co..[+] A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22. [-]
cone-rod dystrophy 11	CORD11	A cone-rod dystrophy that has_material_basis_in he..[+] A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13. [-]
cone-rod dystrophy 12	CORD12	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15. [-]
cone-rod dystrophy 9	CORD9	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11. [-]
cone-rod dystrophy 15	CORD15	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23. [-]
cone-rod dystrophy 16	CORD16; retinal dystrophy with early macular invol.. [+] CORD16; retinal dystrophy with early macular involvement [-]	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22. [-]
cone-rod dystrophy 17	CORD17	A cone-rod dystrophy that has_material_basis_in va..[+] A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26. [-]
cone-rod dystrophy 18	CORD18	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15. [-]
cone-rod dystrophy 19	CORD19	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24. [-]
cone-rod dystrophy 20	CORD20	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21. [-]
CADASIL 1	autosomal dominant cerebral arteriopathy with subc.. [+] autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1 [-]	A CADASIL characterized by migraine, strokes, and ..[+] A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. [-]
CADASIL 2	autosomal dominant cerebral arteriopathy with subc.. [+] autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 [-]	A CADASIL characterized by stroke, transient ische..[+] A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26. [-]
congenital bile acid synthesis defect 5	CBAS5	A congenital bile acid synthesis defect characteri..[+] A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21. [-]
congenital bile acid synthesis defect 6	CBAS6	A congenital bile acid synthesis defect characteri..[+] A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14. [-]
congenital bile acid synthesis defect 4	CBAS4; intrahepatic cholestasis with defective con.. [+] CBAS4; intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid; trihydroxycoprostanic acid in bile [-]	A congenital bile acid synthesis defect characteri..[+] A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13. [-]
congenital bile acid synthesis defect 2	cholestasis with delta(4)-3-oxosteroid 5-beta-redu.. [+] cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; CBAS2 [-]	A congenital bile acid synthesis defect characteri..[+] A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33. [-]
congenital bile acid synthesis defect 3	CBAS3; oxysterol 7-alpha-hydroxylase deficiency	A congenital bile acid synthesis defect characteri..[+] A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12. [-]
congenital bile acid synthesis defect 1	CBAS1	A congenital bile acid synthesis defect characteri..[+] A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p. [-]
congenital generalized lipodystrophy type 1	CGL1; Berardinelli-Seip Congenital Lipodystrophy, .. [+] CGL1; Berardinelli-Seip Congenital Lipodystrophy, Type 1; Brunzell syndrome AGPAT2-related; BSCL1 [-]	A congenital generalized lipodystrophy that has_ma..[+] A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3. [-]

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