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Disease	Synonyms	Description
hypertrophic cardiomyopathy 9	cardiomyopathy, familial hypertrophic, 9; CMH9	A familial hypertrophic cardiomyopathy that has_ma..[+] A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. [-]
hypertrophic cardiomyopathy 10	cardiomyopathy, familial hypertrophic, 10; CMH10	A familial hypertrophic cardiomyopathy that has_ma..[+] A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYL2 gene. [-]
hypertrophic cardiomyopathy 11	cardiomyopathy familial hypertrophic 11; CMH11	A familial hypertrophic cardiomyopathy that has_ma..[+] A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14. [-]
hypertrophic cardiomyopathy 12	cardiomyopathy familial hypertrophic 12; CMH12	A familial hypertrophic cardiomyopathy that has_ma..[+] A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the CSRP3 gene on chromosome 11p15. [-]
hypertrophic cardiomyopathy 13	cardiomyopathy familial hypertrophic 13; CMH13	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 familial hypertrophic cardiomyopathy that has_ma..[+] A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene. [-]
hypertrophic cardiomyopathy 15	cardiomyopathy familial hypertrophic 15; CMH15	A familial hypertrophic cardiomyopathy that has_ma..[+] A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the vinculin gene (VCL) on chromosome 10q22. [-]
hypertrophic cardiomyopathy 16	cardiomyopathy familial hypertrophic 16; CMH16	A familial hypertrophic cardiomyopathy that has_ma..[+] A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYOZ2 gene on chromosome 4q26. [-]
hypertrophic cardiomyopathy 17	cardiomyopathy familial hypertrophic 17; CMH17	A familial hypertrophic cardiomyopathy that has_ma..[+] A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12. [-]
hypertrophic cardiomyopathy 18	cardiomyopathy familial hypertrophic 18; CMH18	A familial hypertrophic cardiomyopathy that has_ma..[+] A familial 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 familial hypertrophic cardiomyopathy that has_ma..[+] A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the NEXN gene on chromosome 1p31.1. [-]
hypertrophic cardiomyopathy 26	cardiomyopathy familial hypertrophic 26; CMH26	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	cardiomyopathy familial hypertrophic 25; CMH25	A familial hypertrophic cardiomyopathy that has_ma..[+] A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TCAP gene on chromosome 17q12. [-]
hypotrichosis 1	Hhs; Hts; Hypt1; hereditary generalized hypotricho.. [+] Hypt1; Hts; Hhs; hereditary generalized hypotrichosis simplex [-]	A hypotrichosis that has_material_basis_in a autos..[+] A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the APCDD1 gene on chromosome 18p11.22. [-]
hypotrichosis 2	hypotrichosis simplex of the scalp 1; Hypt2; Htss1.. [+] Hypt2; hypotrichosis simplex of the scalp 1; Htss1; Spanish type hypotrichosis [-]	A hypotrichosis that has_material_basis_in a autos..[+] A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the CDSN gene on chromosome 6p21.33. [-]
hypotrichosis 3	Hypt3; hypotrichosis simplex of the scalp 2; Htss2.. [+] hypotrichosis simplex of the scalp 2; Hypt3; Htss2 [-]	A hypotrichosis that has_material_basis_in a autos..[+] A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT74 gene on chromosome 12q13.13. [-]
hypotrichosis 4	Hypotrichosis, Marie Unna Type, 1; Hypt4; Marie Un.. [+] Hypt4; Hypotrichosis, Marie Unna Type, 1; Marie Unna Hereditary Hypotrichosis 1; Muhh1 [-]	A hypotrichosis that has_material_basis_in a autos..[+] A hypotrichosis that has_material_basis_in a autosomal dominant mutation of HR on chromosome 8p21.3. [-]
hypotrichosis 5	Hypt5; Muhh2; Marie Unna Hereditary Hypotrichosis .. [+] Hypt5; Muhh2; Marie Unna Hereditary Hypotrichosis 2 [-]	A hypotrichosis that has_material_basis_in a mutat..[+] A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3. [-]
hypotrichosis 6	Hypotrichosis, Localized, Autosomal Recessive 1; H.. [+] Hypotrichosis, Localized, Autosomal Recessive 1; Hypt6; autosomal recessive localized hypotrichosis; Lah1; Monilethrix-like hypotrichosis [-]	A hypotrichosis that has_material_basis_in a autos..[+] A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1. [-]
hypotrichosis 7	Hypt7; hypotrichosis, localized, autosomal recessi.. [+] Hypt7; hypotrichosis, localized, autosomal recessive 2; Lah2; total Mari type hypotrichosis, [-]	A hypotrichosis that has_material_basis_in a autos..[+] A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the LIPH gene on chromosome 3q27.2. [-]
hypotrichosis 8	hypotrichosis, localized, autosomal recessive 3; H.. [+] hypotrichosis, localized, autosomal recessive 3; Hypt8; Lah3 [-]	A hypotrichosis has_material_basis_in a autosomal ..[+] A hypotrichosis has_material_basis_in a autosomal recessive mutation of the LPAR6 gene on chromosome 13q14.2. [-]
hypotrichosis 9	Hypt9	A hypotrichosis that has_material_basis_in an auto..[+] A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 10q11.23-q22.3. [-]
hypotrichosis 10	Hypt10	A hypotrichosis that has_material_basis_in an auto..[+] A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 7p22.3-p21.3. [-]
hypotrichosis 11	Hypt11	A hypotrichosis that has_material_basis_in a autos..[+] A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the SNRPE gene on chromosome 1q32.1. [-]
hypotrichosis 12	Hypt12	A hypotrichosis that has_material_basis_in a autos..[+] A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the RPL21 gene on chromosome 13q12.2. [-]
hypotrichosis 13	Hypt13; hypotrichosis with woolly hair	A hypotrichosis that has_material_basis_in a autos..[+] A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT71 gene on chromosome 12q13.13. [-]
hereditary spastic paraplegia 10	SPG10; autosomal dominant spastic paraplegia 10; a.. [+] SPG10; autosomal dominant spastic paraplegia 10; autosomal dominant spastic paraplegia type 10 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13. [-]
hereditary spastic paraplegia 11	HSP-TCC; autosomal recessive spastic paraplegia ty.. [+] HSP-TCC; autosomal recessive spastic paraplegia type 11; autosomal recessive spastic paraplegia 11; autosomal recessive spastic paraplegia complicated with thin corpus callosum; autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum; Nakamura-Osame syndrome; spastic paraplegia-intellectual disability-thin corpus callosum syndrome; SPG11 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. [-]
hereditary spastic paraplegia 12	SPG12; autosomal dominant spastic paraplegia 12; a.. [+] SPG12; autosomal dominant spastic paraplegia 12; autosomal dominant spastic paraplegia type 12 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13. [-]
hereditary spastic paraplegia 13	SPG13; autosomal dominant spastic paraplegia 13	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 gene on chromosome 2q33. [-]
hereditary spastic paraplegia 14	SPG14; autosomal recessive spastic paraplegia 14; .. [+] SPG14; autosomal recessive spastic paraplegia 14; autosomal recessive spastic paraplegia type 14 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28. [-]
hereditary spastic paraplegia 15	hereditary spastic paraparesis type 15; autosomal .. [+] hereditary spastic paraparesis type 15; autosomal recessive spastic paraplegia 15; autosomal recessive spastic paraplegia type 15; Kjellin syndrome; spastic paraplegia and retinal degeneration; spastic paraplegia-retinal degeneration syndrome; SPG15 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1. [-]
hereditary spastic paraplegia 16	SPG16; X-linked spastic paraplegia type 16; X-link.. [+] SPG16; X-linked spastic paraplegia type 16; X-linked spastic paraplegia 16 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq11.2. [-]
hereditary spastic paraplegia 17	distal hereditary motor neuropathy type 5B; autoso.. [+] distal hereditary motor neuropathy type 5B; autosomal dominant spastic paraplegia 17; autosomal dominant spastic paraplegia type 17; dHMN5B; Silver spastic paraplegia syndrome; Silver syndrome; spastic paraplegia with amyotrophy of hands and feet; spastic paraplegia-amyotrophy of hands and feet; SPG17 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12. [-]
hereditary spastic paraplegia 18	autosomal recessive spastic paraplegia 18; autosom.. [+] autosomal recessive spastic paraplegia 18; autosomal recessive spastic paraplegia type 18; IDMDC; intellectual disability, motor dysfunction and joint contractures; SPG18 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11. [-]
hereditary spastic paraplegia 19	autosomal dominant spastic paraplegia 19; autosoma.. [+] autosomal dominant spastic paraplegia 19; autosomal dominant spastic paraplegia type 19; SPG19 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 9q. [-]
hereditary spastic paraplegia 2	spastic paraplegia type 2; SPG2; X-linked spastic .. [+] spastic paraplegia type 2; SPG2; X-linked spastic paraplegia 2 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2. [-]
hereditary spastic paraplegia 23	spastic paraplegia 23; Lison syndrome; Spastic par.. [+] spastic paraplegia 23; Lison syndrome; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; spastic paraplegia with pigmentary abnormalities; SPG23 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32. [-]
hereditary spastic paraplegia 24	SPG24; autosomal recessive spastic paraplegia 24; .. [+] SPG24; autosomal recessive spastic paraplegia 24; autosomal recessive spastic paraplegia type 24 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 13q14. [-]
hereditary spastic paraplegia 25	SPG25; autosomal recessive spastic paraplegia 25; .. [+] SPG25; autosomal recessive spastic paraplegia 25; autosomal recessive spastic paraplegia type 25 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 6q23-q24.1. [-]
hereditary spastic paraplegia 26	autosomal recessive spastic paraplegia 26; autosom.. [+] autosomal recessive spastic paraplegia 26; autosomal recessive spastic paraplegia type 26; GM2 synthase deficiency; SPG26 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13. [-]
hereditary spastic paraplegia 27	autosomal recessive spastic paraplegia 27; autosom.. [+] autosomal recessive spastic paraplegia 27; autosomal recessive spastic paraplegia type 27; SPG27 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 10q22.1-q24.1. [-]
hereditary spastic paraplegia 28	autosomal recessive spastic paraplegia 28; SPG28; .. [+] autosomal recessive spastic paraplegia 28; SPG28; autosomal recessive spastic paraplegia type 28 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22. [-]
hereditary spastic paraplegia 29	autosomal dominant spastic paraplegia 29; SPG29	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1p31.1-p21.1. [-]
hereditary spastic paraplegia 30	autosomal recessive spastic paraplegia 30; SPG30; .. [+] autosomal recessive spastic paraplegia 30; SPG30; autosomal spastic paraplegia type 30; autosomal dominant spastic paraplegia 30 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37. [-]
hereditary spastic paraplegia 31	autosomal dominant spastic paraplegia 31; autosoma.. [+] autosomal dominant spastic paraplegia 31; autosomal dominant spastic paraplegia type 31; SPG31 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11. [-]
hereditary spastic paraplegia 32	autosomal recessive spastic paraplegia type 32; SP.. [+] autosomal recessive spastic paraplegia type 32; SPG32; autosomal recessive spastic paraplegia 32 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 14q12-q21. [-]
hereditary spastic paraplegia 33	SPG33; autosomal dominant spastic paraplegia 33	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE27 gene on chromosome 10q24. [-]
hereditary spastic paraplegia 34	SPG34; X-linked spastic paraplegia 34; X-linked sp.. [+] SPG34; X-linked spastic paraplegia 34; X-linked spastic paraplegia type 34 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq24-q25. [-]
hereditary spastic paraplegia 35	autosomal recessive spastic paraplegia 35; autosom.. [+] autosomal recessive spastic paraplegia 35; autosomal recessive spastic paraplegia type 35; FAHN; fatty acid hydroxylase-associated neurodegeneration; leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia; SPG35 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1. [-]

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