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Disease	Synonyms	Description
hypertrophic cardiomyopathy 25	cardiomyopathy familial hypertrophic 25; CMH25	A hypertrophic cardiomyopathy that has_material_ba..[+] A 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 CDSN on chromosome 6p21.33. [-]
hypotrichosis 3	hypotrichosis simplex of the scalp 2; Hypt3; Htss2.. [+] Hypt3; hypotrichosis simplex of the scalp 2; 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; Marie Unna Hereditary Hypotrichosis 2; Muhh.. [+] Hypt5; Marie Unna Hereditary Hypotrichosis 2; Muhh2 [-]	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	Hypt6; Hypotrichosis, Localized, Autosomal Recessi.. [+] Hypt6; Hypotrichosis, Localized, Autosomal Recessive 1; 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 DSG4 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	Hypt8; hypotrichosis, localized, autosomal recessi.. [+] Hypt8; hypotrichosis, localized, autosomal recessive 3; Lah3 [-]	A hypotrichosis has_material_basis_in a autosomal ..[+] A hypotrichosis has_material_basis_in a autosomal recessive mutation of LPAR6 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 SNRPE 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 RPL21 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 KRT71 on chromosome 12q13.13. [-]
hereditary spastic paraplegia 10	autosomal dominant spastic paraplegia 10; autosoma.. [+] autosomal dominant spastic paraplegia 10; autosomal dominant spastic paraplegia type 10; SPG10 [-]	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 11.. [+] HSP-TCC; autosomal recessive spastic paraplegia 11; autosomal recessive spastic paraplegia complicated with thin corpus callosum; autosomal recessive spastic paraplegia type 11; 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	autosomal dominant spastic paraplegia 12; autosoma.. [+] autosomal dominant spastic paraplegia 12; autosomal dominant spastic paraplegia type 12; SPG12 [-]	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	autosomal dominant spastic paraplegia 13; SPG13	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	autosomal recessive spastic paraplegia 14; autosom.. [+] autosomal recessive spastic paraplegia 14; autosomal recessive spastic paraplegia type 14; SPG14 [-]	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 16; X-linked sp.. [+] SPG16; X-linked spastic paraplegia 16; X-linked spastic paraplegia type 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	autosomal dominant spastic paraplegia 17; autosoma.. [+] autosomal dominant spastic paraplegia 17; autosomal dominant spastic paraplegia type 17; dHMN5B; distal hereditary motor neuropathy type 5B; 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	Lison syndrome; Spastic paraparesis-vitiligo-prema.. [+] Lison syndrome; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; spastic paraplegia 23; 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	autosomal recessive spastic paraplegia 24; autosom.. [+] autosomal recessive spastic paraplegia 24; autosomal recessive spastic paraplegia type 24; SPG24 [-]	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	autosomal recessive spastic paraplegia 25; autosom.. [+] autosomal recessive spastic paraplegia 25; autosomal recessive spastic paraplegia type 25; SPG25 [-]	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; autosom.. [+] autosomal recessive spastic paraplegia 28; autosomal recessive spastic paraplegia type 28; SPG28 [-]	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; autosom.. [+] autosomal recessive spastic paraplegia 30; autosomal spastic paraplegia type 30; SPG30; 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 32; autosom.. [+] autosomal recessive spastic paraplegia 32; autosomal recessive spastic paraplegia type 32; SPG32 [-]	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	autosomal dominant spastic paraplegia 33; SPG33	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. [-]
hereditary spastic paraplegia 36	autosomal dominant spastic paraplegia 36; autosoma.. [+] autosomal dominant spastic paraplegia 36; autosomal dominant spastic paraplegia type 36; SPG36 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 12q23-q24. [-]
hereditary spastic paraplegia 37	autosomal dominant spastic paraplegia 37; autosoma.. [+] autosomal dominant spastic paraplegia 37; autosomal dominant spastic paraplegia type 37; SPG37 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 8p21.1-q13.3. [-]
hereditary spastic paraplegia 38	autosomal dominant spastic paraplegia 38; autosoma.. [+] autosomal dominant spastic paraplegia 38; autosomal dominant spastic paraplegia type 38; SPG38 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15. [-]
hereditary spastic paraplegia 39	autosomal recessive spastic paraplegia 39; autosom.. [+] autosomal recessive spastic paraplegia 39; autosomal recessive spastic paraplegia type 39; NTE-related motor neuron disorder; NTEMND; spastic paraplegia due to neuropathy target esterase mutation; spastic paraplegia due to NTE mutation; SPG39 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13. [-]
hereditary spastic paraplegia 3A	autosomal dominant familial spastic paraplegia 1; .. [+] autosomal dominant familial spastic paraplegia 1; autosomal dominant spastic paraplegia 3; autosomal dominant spastic paraplegia type 3; FSP1; SPG3A; strumpell disease [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22. [-]
hereditary spastic paraplegia 4	autosomal dominant spastic paraplegia 4; autosomal.. [+] autosomal dominant spastic paraplegia 4; autosomal dominant spastic paraplegia type 4; SPG4 [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22. [-]
hereditary spastic paraplegia 41	autosomal dominant spastic paraplegia 41; autosoma.. [+] autosomal dominant spastic paraplegia 41; autosomal dominant spastic paraplegia type 41; SPG41 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 11p14.1-p11.2. [-]
hereditary spastic paraplegia 42	autosomal dominant spastic paraplegia 42; autosoma.. [+] autosomal dominant spastic paraplegia 42; autosomal dominant spastic paraplegia type 42; SPG42 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31. [-]
hereditary spastic paraplegia 43	autosomal recessive spastic paraplegia 43; autosom.. [+] autosomal recessive spastic paraplegia 43; autosomal recessive spastic paraplegia type 43; SPG43 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12. [-]
hereditary spastic paraplegia 44	autosomal recessive spastic paraplegia 44; SPG44	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. [-]
hereditary spastic paraplegia 45	autosomal recessive spastic paraplegia 45; autosom.. [+] autosomal recessive spastic paraplegia 45; autosomal recessive spastic paraplegia type 45; autosomal recessive spastic paraplegia type 65; SPG45; SPG65 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24. [-]
hereditary spastic paraplegia 46	autosomal recessive spastic paraplegia 46; autosom.. [+] autosomal recessive spastic paraplegia 46; autosomal recessive spastic paraplegia type 46; SPG46 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p. [-]

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