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Disease	Synonyms	Description
hypogonadotropic hypogonadism 17 with or without anosmia		A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes. [-]
hypogonadotropic hypogonadism 16 with or without anosmia		A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes. [-]
hypogonadotropic hypogonadism 22 with or without anosmia		A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31.\n [-]
hypogonadotropic hypogonadism 20 with or without anosmia		A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes. [-]
hypogonadotropic hypogonadism 2 with or without anosmia		A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes. [-]
hypogonadotropic hypogonadism 5 with or without anosmia		A hypogonadotropic hypogonadism that is characteri..[+] A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12. [-]
hypogonadotropic hypogonadism 9 with or without anosmia		A hypogonadotropic hypogonadism that is characteri..[+] A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene. [-]
hypogonadotropic hypogonadism 6 with or without anosmia		A hypogonadotropic hypogonadism that is characteri..[+] A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene. [-]
hypogonadotropic hypogonadism 14 with or without anosmia		A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the WDR11 gene on chromosome 10q26.\n [-]
hypogonadotropic hypogonadism 24 without anosmia	isolated follicle-stimulating hormone deficiency	A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14. [-]
hypogonadotropic hypogonadism 10 with or without anosmia		A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TAC3 gene on chromosome 12q13. [-]
hypogonadotropic hypogonadism 19 with or without anosmia		A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes. [-]
hypogonadotropic hypogonadism 23 with or without anosmia	46,XY disorder of sex development due to LHB defic.. [+] 46,XY disorder of sex development due to LHB deficiency; 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency; 46,XY DSD due to LHB deficiency; 46,XY DSD due to luteinizing hormone subunit beta deficiency; leydig cell hypoplasia due to LHB deficiency; Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency; Pasqualini syndrome; fertile eunuch syndrome [-]	A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. [-]
hypogonadotropic hypogonadism 3 with or without anosmia		A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene. [-]
hypogonadotropic hypogonadism 21 with or without anosmia		A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes. [-]
hypogonadotropic hypogonadism 1 with or without anosmia	dysplasia olfactogenitalis of de morsier	A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene. [-]
Huntington's disease-like 1	Huntington disease-like 1; Huntington-like neurode.. [+] Huntington disease-like 1; Huntington-like neurodegenerative disorder 1; HLN1; HDL1; autosomal dominant Huntington-like neurodegenerative disorder; early-onset prion disease with prominent psychiatric features [-]	A prion disease that is characterized by a phenoco..[+] A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13. [-]
Huntington's disease-like 2	Huntington disease-like 2; HDL2	A neurodegenerative disease characterized by invol..[+] A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24. [-]
hereditary neutrophilia		A leukocyte disease characterized by autosomal dom..[+] A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34. [-]
hemoglobin H disease	haemoglobin H disease, deletional; haemoglobin H d.. [+] haemoglobin H disease, deletional; haemoglobin H disease; hemoglobin H disease, deletional; HBH; alpha thalassemia, hemoglobin H type; alpha thalassemia, haemoglobin H type; alpha-thalassemia intermedia [-]	An alpha thalassemia that has_material_basis_in co..[+] An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other. [-]
hypertrophic cardiomyopathy 1	cardiomyopathy, familial hypertrophic 1; CMH1	A hypertrophic cardiomyopathy that has_material_ba..[+] A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12. [-]
hypertrophic cardiomyopathy 2	cardiomyopathy familial hypertrophic 2; CMH2	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	cardiomyopathy familial hypertrophic 3; CMH3	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	cardiomyopathy, familial hypertrophic, 4; CMH4	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	cardiomyopathy familial hypertrophic 21; CMH21	A familial hypertrophic cardiomyopathy associated ..[+] A familial hypertrophic cardiomyopathy associated that has_material_basis_in region 7p12.1-q21 variation. [-]
hypertrophic cardiomyopathy 6	cardiomyopathy, familial hypertrophic 6; CMH6	A hypertrophic cardiomyopathy that has_material_ba..[+] A 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	cardiomyopathy, familial hypertrophic 7; CMH7	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	cardiomyopathy, familial hypertrophic, 9; CMH9	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	cardiomyopathy, familial hypertrophic, 10; CMH10	A hypertrophic cardiomyopathy that has_material_ba..[+] A hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYL2 gene. [-]
hypertrophic cardiomyopathy 11	cardiomyopathy familial hypertrophic 11; CMH11	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	cardiomyopathy familial hypertrophic 12; CMH12	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	cardiomyopathy familial hypertrophic 13; CMH13	A hypertrophic cardiomyopathy that has_material_ba..[+] A 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	cardiomyopathy familial hypertrophic 15; CMH15	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	cardiomyopathy familial hypertrophic 16; CMH16	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	cardiomyopathy familial hypertrophic 17; CMH17	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	cardiomyopathy familial hypertrophic 18; CMH18	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 19	cardiomyopathy familial hypertrophic 19; CMH19	A hypertrophic cardiomyopathy that has_material_ba..[+] A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the calreticulin gene (CALR3) on chromosome 19p13.11. [-]
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 hypertrophic cardiomyopathy that has_material_ba..[+] A 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 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 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. [-]

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