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Disease	Synonyms	Description	Articles
hereditary angioedema type I		A hereditrary angioedema that has_material_basis_i..[+] A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q. [-]
hereditary angioedema type III		A hereditary angioedema that is characterized clin..[+] A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35. [-]
high-grade B-cell lymphoma double-hit/triple-hit	High Grade B-Cell Lymphoma with MYC and BCL2 or BC.. [+] High Grade B-Cell Lymphoma with MYC and BCL2 or BCL6 Rearrangements; HGBL-DH/TH [-]	A large B-cell lymphoma that is characterized by t..[+] A large B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes. [-]
hepatosplenic T-cell lymphoma		A mature T-cell and NK-cell lymphoma that is chara..[+] A mature T-cell and NK-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. [-]
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. [-]
hot water epilepsy 1	Hot Water Epilepsy, 1	A hot water epilepsy that has_material_basis_in a ..[+] A hot water epilepsy that has_material_basis_in a susceptibility locus for hot water epilepsy (HWE1) mapped to chromosome 10q21.3-q22.3. [-]
hot water epilepsy 2	Hot Water Epilepsy, 2	A hot water epilepsy that has_material_basis_in li..[+] A hot water epilepsy that has_material_basis_in linkage to chromosome 4q24-q28. [-]
HMG-CoA synthase 2 deficiency	3-hydroxy-3-methylglutaryl-CoA synthase-2 deficien.. [+] 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency [-]	An amino acid metabolic disorder that is character..[+] An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12. [-]
hypotonia, ataxia, and delayed development syndrome		A syndrome that is characterized by congenital hyp..[+] A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26. [-]
high-grade astrocytoma with piloid features		An anaplastic astrocytoma that is characterized by..[+] An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa. [-]
Harel-Yoon syndrome	Ocular anomalies-axonal neuropathy-developmental d.. [+] Ocular anomalies-axonal neuropathy-developmental delay syndrome [-]	A syndrome that is characterized by delayed psycho..[+] A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36. [-]
holoprosencephaly 12	holoprosencephaly-12 with or without pancreatic ag.. [+] holoprosencephaly-12 with or without pancreatic agenesis [-]	A holoprosencephaly that is characterized by abnor..[+] A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. [-]
hyperimmunoglobulinemia D periodic fever syndrome	HYPER-IgD SYNDROME	A hyperimmunoglobulin syndrome that is characteriz..[+] A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24. [-]
hypogonadotropic hypogonadism	hypogonadotropism; congenital idiopathic hypogonad.. [+] hypogonadotropism; 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. [-]	3 articles
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 idiopathic gonadotrpin deficiency; famili.. [+] familial idiopathic gonadotrpin deficiency; familial hypogonadotrophic eunuchoidism [-]	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. [-]
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. [-]
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	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 familial hypertrophic cardiomyopathy that has_ma..[+] A familial 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 familial hypertrophic cardiomyopathy that has_ma..[+] A familial 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 familial hypertrophic cardiomyopathy that has_ma..[+] A familial 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 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 familial hypertrophic cardiomyopathy that has_ma..[+] A familial 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 familial hypertrophic cardiomyopathy that has_ma..[+] A familial hypertrophic cardiomyopathy that has_material_basis_in homozygous or heterozygous mutation in the MYL3 gene. [-]

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