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Disease	Synonyms	Description
hypertrophic cardiomyopathy 2	CMH2; cardiomyopathy familial hypertrophic 2	A hypertrophic cardiomyopathy that has_material_ba..[+] A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2). [-]
hypertrophic cardiomyopathy 3	CMH3; cardiomyopathy familial hypertrophic 3	A hypertrophic cardiomyopathy that has_material_ba..[+] A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22. [-]
hypertrophic cardiomyopathy 4	CMH4; cardiomyopathy, familial hypertrophic, 4	A hypertrophic cardiomyopathy that has_material_ba..[+] A hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11. [-]
hypertrophic cardiomyopathy 21	CMH21; cardiomyopathy familial hypertrophic 21	A hypertrophic cardiomyopathy associated that has_..[+] A hypertrophic cardiomyopathy associated that has_material_basis_in region 7p12.1-q21 variation. [-]
hypertrophic cardiomyopathy 6	CMH6; cardiomyopathy, familial hypertrophic 6	A familial hypertrophic cardiomyopathy that has_ma..[+] A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2). [-]
hypertrophic cardiomyopathy 7	CMH7; cardiomyopathy, familial hypertrophic 7	A hypertrophic cardiomyopathy that has_material_ba..[+] A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4. [-]
hypertrophic cardiomyopathy 8	cardiomyopathy, familial hypertrophic, 8; cardiomy.. [+] cardiomyopathy, familial hypertrophic, 8; cardiomyopathy hypertrophic mid-left ventricular chamber type 1 [-]	A hypertrophic cardiomyopathy that has_material_ba..[+] A hypertrophic cardiomyopathy that has_material_basis_in homozygous or heterozygous mutation in the MYL3 gene. [-]
hypertrophic cardiomyopathy 9	CMH9; cardiomyopathy, familial hypertrophic, 9	A hypertrophic cardiomyopathy that has_material_ba..[+] A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. [-]
hypertrophic cardiomyopathy 10	CMH10; cardiomyopathy, familial hypertrophic, 10	A familial hypertrophic cardiomyopathy that has_ma..[+] A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYL2 gene. [-]
hypertrophic cardiomyopathy 11	CMH11; cardiomyopathy familial hypertrophic 11	A hypertrophic cardiomyopathy that has_material_ba..[+] A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14. [-]
hypertrophic cardiomyopathy 12	CMH12; cardiomyopathy familial hypertrophic 12	A hypertrophic cardiomyopathy that has_material_ba..[+] A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the CSRP3 gene on chromosome 11p15. [-]
hypertrophic cardiomyopathy 13	CMH13; cardiomyopathy familial hypertrophic 13	A familial hypertrophic cardiomyopathy that has_ma..[+] A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNC1 gene on chromosome 3p21. [-]
hypertrophic cardiomyopathy 14	CMH14; cardiomyopathy familial hypertrophic 14	A hypertrophic cardiomyopathy that has_material_ba..[+] A hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene. [-]
hypertrophic cardiomyopathy 15	CMH15; cardiomyopathy familial hypertrophic 15	A hypertrophic cardiomyopathy that has_material_ba..[+] A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the vinculin gene (VCL) on chromosome 10q22. [-]
hypertrophic cardiomyopathy 16	CMH16; cardiomyopathy familial hypertrophic 16	A hypertrophic cardiomyopathy that has_material_ba..[+] A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYOZ2 gene on chromosome 4q26. [-]
hypertrophic cardiomyopathy 17	CMH17; cardiomyopathy familial hypertrophic 17	A hypertrophic cardiomyopathy that has_material_ba..[+] A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12. [-]
hypertrophic cardiomyopathy 18	CMH18; cardiomyopathy familial hypertrophic 18	A hypertrophic cardiomyopathy that has_material_ba..[+] A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1. [-]
hypertrophic cardiomyopathy 20	CMH20; cardiomyopathy familial hypertrophic 20	A hypertrophic cardiomyopathy that hhas_material_b..[+] A hypertrophic cardiomyopathy that hhas_material_basis_in heterozygous mutation in the NEXN gene on chromosome 1p31.1. [-]
hypertrophic cardiomyopathy 26	CMH26; cardiomyopathy familial hypertrophic 26	A familial hypertrophic cardiomyopathy that has_ma..[+] A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32. [-]
hypertrophic cardiomyopathy 25	CMH25; cardiomyopathy familial hypertrophic 25	A hypertrophic cardiomyopathy that has_material_ba..[+] A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TCAP gene on chromosome 17q12. [-]
osteogenesis imperfecta type 16	chromosome 11p11.2 deletion syndrome 91.3-KB; OI16.. [+] chromosome 11p11.2 deletion syndrome 91.3-KB; OI16; osteogenesis imperfecta type XVI [-]	An osteogenesis imperfecta that has_material_basis..[+] An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11. [-]
dilated cardiomyopathy 1C	CMDC1; dilated cardiomyopathy 1C with or without l.. [+] CMDC1; dilated cardiomyopathy 1C with or without left ventricular noncompaction [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2. [-]
dilated cardiomyopathy 1CC	CMD1CC	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the NEXN gene on chromosome 1p31.1. [-]
dilated cardiomyopathy 1A	CDCD1; CMD1A; dilated cardiomyopathy with conducti.. [+] CMD1A; CDCD1; dilated cardiomyopathy with conduction defect 1; familial dilated cardiomyopathy with conduction defect due to LMNA mutation [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. [-]
dilated cardiomyopathy 1D	CMD1D	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the TNNT2 gene on chromosome 1q32. [-]
dilated cardiomyopathy 1V	CMD1V	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN2 gene on chromosome 1q31-q42. [-]
dilated cardiomyopathy 1AA	CMD1AA; dilated cardiomyopathy 1AA with or without.. [+] CMD1AA; dilated cardiomyopathy 1AA with or without left ventricular noncompaction [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43. [-]
dilated cardiomyopathy 1H	CMD1H; dilated cardiomyopathy with conduction defe.. [+] CMD1H; dilated cardiomyopathy with conduction defect [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22. [-]
dilated cardiomyopathy 1G	CMD1G	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31. [-]
dilated cardiomyopathy 1I	CMD1I	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the DES gene on chromosome 2q35. [-]
dilated cardiomyopathy 1NN	CMD1NN	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the RAF1 gene on chromosome 3p25. [-]
dilated cardiomyopathy 1E	CDCD2; CMD1E; dilated cardiomyopathy with conducti.. [+] CMD1E; CDCD2; dilated cardiomyopathy with conduction defect 2; dilated cardiomyopathy with conduction disorder and arrhythmia [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the SCN5A gene on chromosome 3p22.2. [-]
dilated cardiomyopathy 1Z	CMD1Z	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the TNNC1 gene on chromosome 3p. [-]
dilated cardiomyopathy 1GG	CMD1GG	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33. [-]
dilated cardiomyopathy 1L	CMD1L	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutations in the SGCD gene on chromosome 5q33.2-q33.3. [-]
dilated cardiomyopathy 1K	CMD1K	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 6q12-q16. [-]
dilated cardiomyopathy 1JJ	CMD1JJ	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the LAMA4 gene on chromosome 6q21. [-]
dilated cardiomyopathy 1P	CMD1P	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the PLN gene on chromosome 6q22. [-]
dilated cardiomyopathy 1J	CMD1J; autosomal dominant dilated cardiomyopathy w.. [+] CMD1J; autosomal dominant dilated cardiomyopathy with sensorineural hearing loss; neurosensory deafness with dilated cardiomyopathy; neurosensory hearing loss with dilated cardiomyopathy; sensorineural deafness with dilated cardiomyopathy; sensorineural hearing loss with dilated cardiomyopathy [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2. [-]
dilated cardiomyopathy 2B	CMD2B	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the GATAD1 gene on chromosome 7q21. [-]
dilated cardiomyopathy 1Q	CMD1Q	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 7q22.3-q31.1. [-]
dilated cardiomyopathy 1B	CMD1B	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13. [-]
dilated cardiomyopathy 1X	CMD1X; dilated cardiomyopathy with mild or no prox.. [+] CMD1X; dilated cardiomyopathy with mild or no proximal muscle weakness [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31. [-]
dilated cardiomyopathy 1KK	CMD1KK	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the MYPN gene on chromosome 10q21. [-]
dilated cardiomyopathy 1W	CMD1W	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the VCL gene on chromosome 10q22.2. [-]
dilated cardiomyopathy 1DD	CMD1DD	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25. [-]
dilated cardiomyopathy 1HH	CMD1HH	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11. [-]
dilated cardiomyopathy 1M	CMD1M	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15. [-]
dilated cardiomyopathy 1II	CMD1II	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23. [-]
dilated cardiomyopathy 1O	CMD1O; dilated cardiomyopathy with ventricular tac.. [+] CMD1O; dilated cardiomyopathy with ventricular tachycardia [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1. [-]

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