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Disease	Synonyms	Description	Articles
hyperphosphatasia with impaired intellectual development syndrome 6	hyperphosphatasia with mental retardation syndrome.. [+] hyperphosphatasia with mental retardation syndrome 4; HPMRS4; glycosylphosphatidylinositol biosynthesis defect 40; GPIBD40 [-]	A hyperphosphatasia with impaired intellectual dev..[+] A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22. [-]
hereditary spastic paraplegia 70	autosomal recessive spastic paraplegia 70; SPG70	A hereditary spastic paraplegia characterized by i..[+] A hereditary spastic paraplegia characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that has_material_basis_in compound heterozygous mutation in the MARS1 gene on chromosome 12q13.3. [-]
hereditary spastic paraplegia 79A	autosomal dominant spastic paraplegia 79A; SPG79A; .. [+] autosomal dominant spastic paraplegia 79A; SPG79A [-]	A hereditary spastic paraplegia characterized by s..[+] A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13. [-]
hereditary spastic paraplegia 87	autosomal recessive spastic paraplegia 87; SPG87	A hereditary spastic paraplegia characterized by i..[+] A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3. [-]
hereditary spastic paraplegia 88	autosomal dominant spastic paraplegia 88; SPG88	A hereditary spastic paraplegia characterized by i..[+] A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity that has_material_basis_in heterozygous mutation in the KPNA3 gene on chromosome 13q14.2. [-]
hereditary spastic paraplegia 89	autosomal recessive spastic paraplegia 89; SPG89	A hereditary spastic paraplegia characterized by i..[+] A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous mutation in the AMFR gene on chromosome 16q13. [-]
hereditary spastic paraplegia 90A	autosomal dominant spastic paraplegia 90A; SPG90A; .. [+] autosomal dominant spastic paraplegia 90A; SPG90A [-]	A hereditary spastic paraplegia characterized by m..[+] A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in heterozygous mutation in the SPTSSA gene on chromosome 14q13.1. [-]
hereditary spastic paraplegia 90B	autosomal recessive spastic paraplegia 90B; SPG90B.. [+] autosomal recessive spastic paraplegia 90B; SPG90B [-]	A hereditary spastic paraplegia characterized by m..[+] A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1. [-]
hypochondroplasia		An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. [-]
hypochondrogenesis		An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen. [-]
hypophosphatemic nephrolithiasis/osteoporosis 1		A hypophosphatemic nephrolithiasis/osteoporosis th..[+] A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35. [-]
hypophosphatemic nephrolithiasis/osteoporosis 2		A hypophosphatemic nephrolithiasis/osteoporosis th..[+] A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1. [-]
herpes simplex virus keratitis	dendritic keratitis	A keratitis that has_material_basis_in herpes simp..[+] A keratitis that has_material_basis_in herpes simplex type infection. [-]
hepatic veno-occlusive disease	veno-occlusive disease	A hepatic vascular disease that is characterized b..[+] A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver. [-]
haemophilus meningitis		A bacterial meningitis that has_material_basis_in ..[+] A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection. [-]
hypomyelinating leukodystrophy 14		A hypomyelinating leukodystrophy that is character..[+] A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13. [-]
hyperprolinemia		An amno acid metabolic disorder that is characteri..[+] An amno acid metabolic disorder that is characterized by the excess of proline in the blood. [-]
hyperprolinemia type 1	hyperprolinemia type I	A hyperprolinemia that has_material_basis_in homoz..[+] A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11. [-]
hyperprolinemia type 2	hyperprolinemia type II	A hyperprolinemia that has_material_basis_in homoz..[+] A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36. [-]
hyper IgE syndrome	hyper immunoglobulin E syndrome	A hyperimmunoglobulin syndrome that is characteriz..[+] A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs. [-]
hyper IgE recurrent infection syndrome 2		A hyper IgE syndrome that has_material_basis_in ho..[+] A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24. [-]
Heimler syndrome 1	Deafness-enamel hypoplasia-nail defects syndrome; .. [+] Deafness-enamel hypoplasia-nail defects syndrome; peroxisomal biogenesis disorder 1C [-]	A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21. [-]
Heimler syndrome 2	peroxisomal biogenesis disorder 4C	A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21. [-]
hypophosphatemic nephrolithiasis/osteoporosis		A kidney disease that is characterized by formatio..[+] A kidney disease that is characterized by formation of renal calcium\nstones or bone demineralization. [-]
hereditary alpha tryptasemia syndrome		A syndrome that is characterized by high blood try..[+] A syndrome that is characterized by high blood tryptase levels and that has_material_basis_in inherited extra copies of the alpha tryptase gene (TPSAB1), effecting multiple organ systems including skin and connective tissues, the gastrointestinal and cardiovascular systems. [-]
hereditary diffuse gastric cancer		A diffuse gastric cancer that is characterized by ..[+] A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. [-]
human cytomegalovirus infection		A viral infectious disease that has_material_basis..[+] A viral infectious disease that has_material_basis_in Human betaherpesvirus 5. [-]
histone mutated tumor	histone mutated tumour	A high grade glioma that has_material_basis_in mut..[+] A high grade glioma that has_material_basis_in mutations in the genes encoding histones. [-]
histiocytic sarcoma		A histiocytic and dendritic cell cancer that is ch..[+] A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes. [-]
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 B-cell lymphoma that is characterized by the abn..[+] A 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. [-]
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. [-]	2 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. [-]

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