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Disease	Synonyms	Description
hot water epilepsy	bathing epilepsy; water immersion epilepsy	A reflex epilepsy that is characterized by seizure..[+] A reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head. [-]
hypogonadotropic hypogonadism	congenital idiopathic hypogonadotropic hypogonadis.. [+] congenital idiopathic hypogonadotropic hypogonadism; isolated congenital gonadotropin deficiency [-]	A hypogonadism characterized by a impaired signall..[+] A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone. [-]
hypogonadotropic hypogonadism 11 with or without anosmia		A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TACR3 gene on chromosome 4q24. [-]
hypogonadotropic hypogonadism 12 with or without anosmia	familial hypogonadotrophic eunuchoidism; familial .. [+] familial hypogonadotrophic eunuchoidism; familial idiopathic gonadotrpin deficiency [-]	A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21. [-]
hypogonadotropic hypogonadism 13 with or without anosmia		A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32. [-]
hypogonadotropic hypogonadism 8 with or without anosmia		A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes. [-]
hypogonadotropic hypogonadism 15 with or without anosmia		A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes. [-]
hypogonadotropic hypogonadism 18 with or without anosmia		A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes. [-]
hypogonadotropic hypogonadism 4 with or without anosmia		A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene. [-]
hypogonadotropic hypogonadism 7 with or without anosmia		A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. [-]
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 characterised 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. [-]
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; fertile eunuch syndrome; leydig cell hypoplasia due to LHB deficiency; Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency; Pasqualini 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 disease-like 1	Huntington-like neurodegenerative disorder 1; HLN1.. [+] Huntington-like neurodegenerative disorder 1; HLN1; HDL1; autosomal dominant Huntington-like neurodegenerative disorder; early-onset prion disease with prominent psychiatric features [-]	A prion disease characterized by a phenocopy of Hu..[+] A prion disease characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has material_basis_in the presence of 8 extra octapeptide repeats in the PRNP gene on chromosome 20p13. [-]
Huntington disease-like 2	HDL2	A neurodegenerative disease characterized by autos..[+] A neurodegenerative disease characterized by autosomal dominant inheritance of a 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 that has material_basis_in a heterozygous expansion of a CAG/CTG repeat in the JPH3 gene 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 CSF3R gene on chromosome 1p34. [-]
hemoglobin H disease	HBH; hemoglobin H disease, deletional; alpha thala.. [+] hemoglobin H disease, deletional; HBH; alpha thalassemia, hemoglobin 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	hypertrophic cardiomyopathy 19; cardiomyopathy, fa.. [+] hypertrophic cardiomyopathy 19; cardiomyopathy, familial hypertrophic 1; CMH1 [-]	A familial hypertrophic cardiomyopathy that has_ma..[+] A familial 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 hypertrophic cardiomyopathy associated that has_..[+] A hypertrophic cardiomyopathy associated that has_material_basis_in region 7p12.1-q21 variation. [-]
hypertrophic cardiomyopathy 6	cardiomyopathy, familial hypertrophic 6; CMH6	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	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 hypertrophic mid-left ventricular c.. [+] cardiomyopathy hypertrophic mid-left ventricular chamber type 1; cardiomyopathy, familial hypertrophic, 8 [-]	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 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 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 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	cardiomyopathy familial hypertrophic 14; CMH14	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 20	cardiomyopathy familial hypertrophic 20; CMH20	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	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. [-]

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