Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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hypomyelinating leukodystrophy 26 |
HLD26
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A hypomyelinating leukodystrophy characterized by ..[+]
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hypomyelinating leukodystrophy 17 |
HLD17
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A hypomyelinating leukodystrophy characterized by ..[+]
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hypomyelinating leukodystrophy 16 |
HLD16
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A hypomyelinating leukodystrophy characterized by ..[+]
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hypomyelinating leukodystrophy 24 |
HLD24
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A hypomyelinating leukodystrophy characterized by ..[+]
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hypomyelinating leukodystrophy 21 |
HLD21
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A hypomyelinating leukodystrophy characterized by ..[+]
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Hengel-Maroofian-Schols syndrome |
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A syndrome characterized by infant or early childh..[+]
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hyperphosphatasia with impaired intellectual development syndrome |
hyperphosphatasia with mental retardation syndrome..
[+]
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An autosomal recessive intellectual developmental ..[+]
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hyperphosphatasia with impaired intellectual development syndrome 5 |
hyperphosphatasia with mental retardation syndrome..
[+]
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A hyperphosphatasia with impaired intellectual dev..[+]
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hyperphosphatasia with impaired intellectual development syndrome 1 |
hyperphosphatasia with mental retardation syndrome..
[+]
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A hyperphosphatasia with impaired intellectual dev..[+]
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hyperphosphatasia with impaired intellectual development syndrome 2 |
hyperphosphatasia with mental retardation syndrome..
[+]
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A hyperphosphatasia with impaired intellectual dev..[+]
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hyperphosphatasia with impaired intellectual development syndrome 3 |
hyperphosphatasia with mental retardation syndrome..
[+]
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A hyperphosphatasia with impaired intellectual dev..[+]
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hyperphosphatasia with impaired intellectual development syndrome 4 |
hyperphosphatasia with mental retardation syndrome..
[+]
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A hyperphosphatasia with impaired intellectual dev..[+]
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hyperphosphatasia with impaired intellectual development syndrome 6 |
hyperphosphatasia with mental retardation syndrome..
[+]
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A hyperphosphatasia with impaired intellectual dev..[+]
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hereditary spastic paraplegia 70 |
autosomal recessive spastic paraplegia 70; SPG70
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A hereditary spastic paraplegia characterized by i..[+]
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hereditary spastic paraplegia 79A |
autosomal dominant spastic paraplegia 79A; SPG79A; ..
[+]
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A hereditary spastic paraplegia characterized by s..[+]
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hereditary spastic paraplegia 87 |
autosomal recessive spastic paraplegia 87; SPG87
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A hereditary spastic paraplegia characterized by i..[+]
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hereditary spastic paraplegia 88 |
autosomal dominant spastic paraplegia 88; SPG88
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A hereditary spastic paraplegia characterized by i..[+]
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hereditary spastic paraplegia 89 |
autosomal recessive spastic paraplegia 89; SPG89
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A hereditary spastic paraplegia characterized by i..[+]
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hereditary spastic paraplegia 90A |
autosomal dominant spastic paraplegia 90A; SPG90A; ..
[+]
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A hereditary spastic paraplegia characterized by m..[+]
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hereditary spastic paraplegia 90B |
autosomal recessive spastic paraplegia 90B; SPG90B..
[+]
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A hereditary spastic paraplegia characterized by m..[+]
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Halperin-Birk syndrome |
HLBKS; NEDSOSB; NEURODEVELOPMENTAL DISORDER WITH S..
[+]
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A syndrome characterized by structural brain defec..[+]
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hypochondroplasia |
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An osteochondrodysplasia that has_material_basis_i..[+]
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hypochondrogenesis |
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An osteochondrodysplasia that has_material_basis_i..[+]
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hypophosphatemic nephrolithiasis/osteoporosis 1 |
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A hypophosphatemic nephrolithiasis/osteoporosis th..[+]
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hypophosphatemic nephrolithiasis/osteoporosis 2 |
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A hypophosphatemic nephrolithiasis/osteoporosis th..[+]
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herpes simplex virus keratitis |
dendritic keratitis
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A keratitis that has_material_basis_in herpes simp..[+]
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hepatic veno-occlusive disease |
veno-occlusive disease
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A hepatic vascular disease that is characterized b..[+]
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haemophilus meningitis |
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A bacterial meningitis that has_material_basis_in ..[+]
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hypomyelinating leukodystrophy 14 |
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A hypomyelinating leukodystrophy that is character..[+]
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hypermanganesemia with dystonia |
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A metal metabolism disorder that is characterized ..[+]
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hypermanganesemia with dystonia 1 |
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A hypermanganesemia with dystonia that is characte..[+]
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hypermanganesemia with dystonia 2 |
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A hypermanganesemia with dystonia that is characte..[+]
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hyperprolinemia |
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An amno acid metabolic disorder that is characteri..[+]
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hyperprolinemia type 1 |
hyperprolinemia type I
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A hyperprolinemia that has_material_basis_in homoz..[+]
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hyperprolinemia type 2 |
hyperprolinemia type II
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A hyperprolinemia that has_material_basis_in homoz..[+]
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hyper IgM syndrome |
A hyperimmunoglobin syndrome that is characterized..[+]
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hyper IgE syndrome |
hyper immunoglobulin E syndrome
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A hyperimmunoglobulin syndrome that is characteriz..[+]
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hyperekplexia 4 |
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A hyperekplexia that is characterized by extreme h..[+]
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hypotrichosis 14 |
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A hypotrichosis that is characterized by sparse to..[+]
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hyper IgE recurrent infection syndrome 2 |
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A hyper IgE syndrome that has_material_basis_in ho..[+]
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hyper IgE recurrent infection syndrome 3 |
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A hyper IgE syndrome that has_material_basis_in ho..[+]
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hyper IgE recurrent infection syndrome 4 |
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A hyper IgE syndrome that has_material_basis_in ho..[+]
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Heimler syndrome 1 |
Deafness-enamel hypoplasia-nail defects syndrome; ..
[+]
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A peroxisomal biogenesis disorder that is characte..[+]
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Heimler syndrome 2 |
peroxisomal biogenesis disorder 4C
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A peroxisomal biogenesis disorder that is characte..[+]
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hypophosphatemic nephrolithiasis/osteoporosis |
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A kidney disease that is characterized by formatio..[+]
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hereditary alpha tryptasemia syndrome |
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A syndrome that is characterized by high blood try..[+]
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hereditary diffuse gastric cancer |
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A diffuse gastric cancer that is characterized by ..[+]
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human cytomegalovirus infection |
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A viral infectious disease that has_material_basis..[+]
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histone mutated tumor |
histone mutated tumour
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A high grade glioma that has_material_basis_in mut..[+]
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histiocytic sarcoma |
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A histiocytic and dendritic cell cancer that is ch..[+]
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