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Disease	Synonyms	Description
hypomyelinating leukodystrophy 26	HLD26	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by severe psychomotor delay, predominantly involving motor and expressive language development, cerebral and cerebellar atrophy, and corpus callosum hypoplasia that has_material_basis_in homozygous mutation in the SLC35B2 gene on chromosome 6p21. [-]
hypomyelinating leukodystrophy 17	HLD17	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by onset in early infancy of microcephaly and lack of overall development that has_material_basis_in homozygous mutation in the AIMP2 gene on chromosome 7p22. [-]
hypomyelinating leukodystrophy 16	HLD16	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21. [-]
hypomyelinating leukodystrophy 24	HLD24	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by global developmental delay and neurologic deterioration that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34. [-]
hypomyelinating leukodystrophy 21	HLD21	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life that has_material_basis_in homozygous mutation in the POLR3K gene on chromosome 16p13. [-]
Hengel-Maroofian-Schols syndrome		A syndrome characterized by infant or early childh..[+] A syndrome characterized by infant or early childhood onset, impaired intellectual development with poor or absent speech, pyramidal signs, microcephaly, short stature, and dysmorphic facial features has_material_basis_in homozygous or compound heterozygous mutation in the BCAS3 gene on chromosome 17q23. [-]
hyperphosphatasia with impaired intellectual development syndrome	hyperphosphatasia with mental retardation syndrome.. [+] hyperphosphatasia with mental retardation syndrome; HPMRS; Mabry disease; Mabry syndrome [-]	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed. [-]
hyperphosphatasia with impaired intellectual development syndrome 5	hyperphosphatasia with mental retardation syndrome.. [+] hyperphosphatasia with mental retardation syndrome 5; HPMRS5; glycosylphosphatidylinositol biosynthesis defect 11; GPIBD11 [-]	A hyperphosphatasia with impaired intellectual dev..[+] A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGW gene on chromosome 17q12. [-]
hyperphosphatasia with impaired intellectual development syndrome 1	hyperphosphatasia with mental retardation syndrome.. [+] hyperphosphatasia with mental retardation syndrome 1; HPMRS1; glycosylphosphatidylinositol biosynthesis defect 2; GPIBD2 [-]	A hyperphosphatasia with impaired intellectual dev..[+] A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36. [-]
hyperphosphatasia with impaired intellectual development syndrome 2	hyperphosphatasia with mental retardation syndrome.. [+] hyperphosphatasia with mental retardation syndrome 2; HPMRS2; glycosylphosphatidylinositol biosynthesis defect 6; GPIBD6 [-]	A hyperphosphatasia with impaired intellectual dev..[+] A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13. [-]
hyperphosphatasia with impaired intellectual development syndrome 3	hyperphosphatasia with mental retardation syndrome.. [+] hyperphosphatasia with mental retardation syndrome 3; HPMRS3; glycosylphosphatidylinositol biosynthesis defect 8; GPIBD8 [-]	A hyperphosphatasia with impaired intellectual dev..[+] A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP2 gene on chromosome 11p15. [-]
hyperphosphatasia with impaired intellectual development syndrome 4	hyperphosphatasia with mental retardation syndrome.. [+] hyperphosphatasia with mental retardation syndrome 6; HPMRS6; glycosylphosphatidylinositol biosynthesis defect 62; GPIBD62 [-]	A hyperphosphatasia with impaired intellectual dev..[+] A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP3 gene on chromosome 17q12. [-]
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. [-]
Halperin-Birk syndrome	HLBKS; NEDSOSB; NEURODEVELOPMENTAL DISORDER WITH S.. [+] HLBKS; NEDSOSB; NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES [-]	A syndrome characterized by structural brain defec..[+] A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.22. [-]
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. [-]
hypermanganesemia with dystonia		A metal metabolism disorder that is characterized ..[+] A metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese. [-]
hypermanganesemia with dystonia 1		A hypermanganesemia with dystonia that is characte..[+] A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41. [-]
hypermanganesemia with dystonia 2		A hypermanganesemia with dystonia that is characte..[+] A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21. [-]
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 IgM syndrome	HIGM; hyperimmunoglobulin M syndrome; immunodefici.. [+] hyperimmunoglobulin M syndrome; HIGM; immunodeficiency with hyper-IgM [-]	A hyperimmunoglobin syndrome that is characterized..[+] A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM. [-]
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. [-]
hyperekplexia 4		A hyperekplexia that is characterized by extreme h..[+] A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appeareance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23. [-]
hypotrichosis 14		A hypotrichosis that is characterized by sparse to..[+] A hypotrichosis that is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair and that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22. [-]
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. [-]
hyper IgE recurrent infection syndrome 3		A hyper IgE syndrome that has_material_basis_in ho..[+] A hyper IgE syndrome that has_material_basis_in homozygous mutation in the ZNF341 gene on chromosome 20q11. [-]
hyper IgE recurrent infection syndrome 4		A hyper IgE syndrome that has_material_basis_in ho..[+] A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6ST gene on chromosome 5q11. [-]
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. [-]

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