Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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hypomyelinating leukodystrophy 13 |
HLD13
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A hypomyelinating leukodystrophy characterized by ..[+]
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hypomyelinating leukodystrophy 12 |
HLD12
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A hypomyelinating leukodystrophy characterized by ..[+]
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hypomyelinating leukodystrophy 8 |
HLD8
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A hypomyelinating leukodystrophy characterized by ..[+]
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hypomyelinating leukodystrophy 6 |
hypomyelination with atrophy of basal ganglia and ..
[+]
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A hypomyelinating leukodystrophy characterized by ..[+]
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hereditary neuropathy with liability to pressure palsies |
A neuropathy characterized by autosomal dominant i..[+]
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hypotonia-cystinuria syndrome |
cystinuria with mitochondrial disease
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A syndrome that has_material_basis_in homozygous d..[+]
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hypoparathyroidism-deafness-renal disease syndrome |
hypoparathyroidism, sensorineural deafness, and re..
[+]
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A characterized by autosomal dominant inheritance ..[+]
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Helsmoortel-Van Der Aa Syndrome |
HVDAS; autosomal dominant mental retardation 28; M..
[+]
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An autosomal dominant non-syndromic intellectual d..[+]
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hereditary sensory and autonomic neuropathy type 5 |
A hereditary sensory neuropathy characterized by i..[+]
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hereditary sensory neuropathy type 4 |
hereditary sensory neuropathy type IV; insensitivi..
[+]
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A hereditary sensory neuropathy characterized by i..[+]
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hereditary sensory neuropathy type 2C |
HSN2C; hereditary sensory neuropathy type IIC
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A hereditary sensory and autonomic neuropathy type..[+]
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hereditary sensory neuropathy type 1B |
A hereditary sensory neuropathy characterized by a..[+]
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hereditary sensory and autonomic neuropathy type 7 |
A hereditary sensory neuropathy characterized by i..[+]
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hereditary sensory and autonomic neuropathy type 2B |
A hereditary sensory and autonomic neuropathy type..[+]
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hereditary sensory and autonomic neuropathy type 6 |
A hereditary sensory neuropathy characterized by n..[+]
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hereditary sensory and autonomic neuropathy type 1A |
A hereditary sensory and autonomic neuropathy type..[+]
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hereditary sensory and autonomic neuropathy type 8 |
A hereditary sensory neuropathy characterized by c..[+]
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hereditary sensory neuropathy type 1F |
HSN1F; hereditary sensory neuropathy type IF
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A hereditary sensory and autonomic neuropathy type..[+]
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hereditary sensory and autonomic neuropathy type 2A |
A hereditary sensory and autonomic neuropathy type..[+]
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hereditary sensory neuropathy type ID |
HSN1D
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A hereditary sensory and autonomic neuropathy type..[+]
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hereditary sensory and autonomic neuropathy type 1C |
A hereditary sensory and autonomic neuropathy type..[+]
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hereditary sensory neuropathy type 1E |
HSN1E; hereditary sensory neuropathy type IE
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A hereditary sensory neuropathy characterized by a..[+]
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hereditary sensory neuropathy X-linked |
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A hereditary sensory neuropathy characterized by X..[+]
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hereditary sensory and autonomic neuropathy type 2 |
A hereditary sensory neuropathy characterized by p..[+]
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hereditary sensory and autonomic neuropathy type 1 |
A hereditary sensory neuropathy characterized by s..[+]
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hereditary lymphedema IC |
LMPH1C
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A hereditary lymphedema characterized by autosomal..[+]
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hereditary lymphedema IA |
LMPH1A
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A hereditary lymphedema characterized by autosomal..[+]
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hereditary nonpolyposis colorectal cancer type 5 |
HNPCC5
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A Lynch syndrome that has_material_basis_in hetero..[+]
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hereditary nonpolyposis colorectal cancer type 7 |
HNPCC7
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A Lynch syndrome that has_material_basis_in mutati..[+]
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hypoplastic right heart syndrome |
Right hypoplastic heart syndrome
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A congenital heart disease characterized by underd..[+]
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hypomyelinating leukodystrophy 15 |
HLD15
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A hypomyelinating leukodystrophy characterized by ..[+]
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hypomyelinating leukodystrophy 22 |
HLD22
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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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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 6 |
hyperphosphatasia with mental retardation syndrome..
[+]
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A hyperphosphatasia with impaired intellectual dev..[+]
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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 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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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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n_a
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herpes simplex virus keratitis |
dendritic keratitis
|
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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hypermanganesemia with dystonia 1 |
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A hypermanganesemia with dystonia that is characte..[+]
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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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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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Heimler syndrome 1 |
Deafness-enamel hypoplasia-nail defects syndrome; ..
[+]
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A peroxisomal biogenesis disorder that is characte..[+]
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