Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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hereditary spastic paraplegia 47 |
autosomal recessive spastic paraplegia 47; CPSQ5; ..
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A hereditary spastic paraplegia that has_material_..[+]
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hereditary spastic paraplegia 48 |
autosomal recessive spastic paraplegia 48; autosom..
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A hereditary spastic paraplegia that has_material_..[+]
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hereditary spastic paraplegia 49 |
autosomal recessive spastic paraplegia 49; autosom..
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A hereditary spastic paraplegia that has_material_..[+]
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hereditary spastic paraplegia 50 |
autosomal recessive spastic paraplegia 50; CPSQ3; ..
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A hereditary spastic paraplegia that has_material_..[+]
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hereditary spastic paraplegia 51 |
autosomal dominant spastic paraplegia 51; CPSQ4; s..
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A hereditary spastic paraplegia that has_material_..[+]
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hereditary spastic paraplegia 52 |
autosomal recessive spastic paraplegia 52; CPSQ6; ..
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A hereditary spastic paraplegia that has_material_..[+]
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hereditary spastic paraplegia 53 |
autosomal recessive spastic paraplegia 53; autosom..
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A hereditary spastic paraplegia that has_material_..[+]
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hereditary spastic paraplegia 54 |
autosomal recessive spastic paraplegia 54; autosom..
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A hereditary spastic paraplegia that has_material_..[+]
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hereditary spastic paraplegia 55 |
autosomal recessive spastic paraplegia 55; autosom..
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A hereditary spastic paraplegia that has_material_..[+]
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hereditary spastic paraplegia 56 |
autosomal recessive spastic paraplegia 56; autosom..
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A hereditary spastic paraplegia that has_material_..[+]
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hereditary spastic paraplegia 57 |
autosomal recessive spastic paraplegia 57; autosom..
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A hereditary spastic paraplegia that has_material_..[+]
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hereditary spastic paraplegia 5A |
autosomal recessive spastic paraplegia 5A; autosom..
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A hereditary spastic paraplegia that is characteri..[+]
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hereditary spastic paraplegia 6 |
autosomal dominant familial spastic paraplegia typ..
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A hereditary spastic paraplegia that is usually ch..[+]
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hereditary spastic paraplegia 61 |
autosomal recessive spastic paraplegia 61; autosom..
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A hereditary spastic paraplegia that has_material_..[+]
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hereditary spastic paraplegia 62 |
autosomal recessive spastic paraplegia 62; autosom..
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A hereditary spastic paraplegia that has_material_..[+]
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hereditary spastic paraplegia 63 |
autosomal recessive spastic paraplegia 63; spastic..
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A hereditary spastic paraplegia that has_material_..[+]
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hereditary spastic paraplegia 64 |
autosomal recessive spastic paraplegia 64; autosom..
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A hereditary spastic paraplegia that has_material_..[+]
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hereditary spastic paraplegia 7 |
autosomal recessive spastic paraplegia 7; spastic ..
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A hereditary spastic paraplegia that is characteri..[+]
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hereditary spastic paraplegia 72 |
autosomal spastic paraplegia type 72; SPG72
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A hereditary spastic paraplegia that has_material_..[+]
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hereditary spastic paraplegia 73 |
autosomal dominant spastic paraplegia 73; autosoma..
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A hereditary spastic paraplegia that has_material_..[+]
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hereditary spastic paraplegia 74 |
autosomal recessive spastic paraplegia 74; SPG74
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A hereditary spastic paraplegia that has_material_..[+]
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hereditary spastic paraplegia 75 |
autosomal recessive spastic paraplegia 75; autosom..
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A hereditary spastic paraplegia that has_material_..[+]
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hereditary spastic paraplegia 76 |
autosomal recessive spastic paraplegia 76; SPG76
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A hereditary spastic paraplegia that has_material_..[+]
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hereditary spastic paraplegia 77 |
autosomal recessive spastic paraplegia 77; SPG77
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A hereditary spastic paraplegia that has_material_..[+]
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hereditary spastic paraplegia 8 |
autosomal dominant spastic paraplegia 8; autosomal..
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A hereditary spastic paraplegia that has_material_..[+]
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hereditary spastic paraplegia 9A |
AD-SPG9A; autosomal dominant complex spastic parap..
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A hereditary spastic paraplegia that has_material_..[+]
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hereditary spastic paraplegia 9B |
autosomal recessive complex spastic paraplegia typ..
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A hereditary spastic paraplegia that has_material_..[+]
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holoprosencephaly 2 |
HPE2
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A holoprosencephaly that has_material_basis_in mut..[+]
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holoprosencephaly 9 |
A holoprosencephaly that has_material_basis_in het..[+]
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holoprosencephaly 6 |
HPE6
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A holoprosencephaly that has_material_basis_in var..[+]
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holoprosencephaly 3 |
HPE3; HLP3
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A holoprosencephaly that has_material_basis_in het..[+]
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holoprosencephaly 7 |
HPE7
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A holoprosencephaly that has_material_basis_in het..[+]
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holoprosencephaly 11 |
HPE11
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A holoprosencephaly that has_material_basis_in het..[+]
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holoprosencephaly 5 |
HPE5
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A holoprosencephaly that has_material_basis_in het..[+]
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holoprosencephaly 8 |
HPE8
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A holoprosencephaly that has_material_basis_in var..[+]
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holoprosencephaly 4 |
HPE4
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A holoprosencephaly that has_material_basis_in het..[+]
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holoprosencephaly 1 |
HPE1
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A holoprosencephaly that has_material_basis_in var..[+]
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hereditary spherocytosis type 1 |
HS1; hereditary spherocytosis 1; SPH1
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A hereditary spherocytosis that has_material_basis..[+]
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hereditary spherocytosis type 2 |
HS2; hereditary spherocytosis 2; SPH2
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A hereditary spherocytosis that has_material_basis..[+]
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hereditary spherocytosis type 3 |
HS3; hereditary spherocytosis 3; SPH3
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A hereditary spherocytosis that has_material_basis..[+]
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hereditary spherocytosis type 4 |
HS4; hereditary spherocytosis 4; SPH4
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A hereditary spherocytosis that has_material_basis..[+]
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hereditary spherocytosis type 5 |
HS5; hereditary spherocytosis 5; SPH5
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A hereditary spherocytosis that has_material_basis..[+]
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hemochromatosis type 2A |
HFE2A
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A hemochromatosis type 2 that has_material_basis_i..[+]
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hemochromatosis type 4 |
A hemochromatosis that has_material_basis_in heter..[+]
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hemochromatosis type 1 |
HFE1; symptomatic form of classic hemochromatosis; ..
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A hemochromatosis that has_material_basis_in homoz..[+]
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hemochromatosis type 3 |
A hemochromatosis that has_material_basis_in homoz..[+]
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hemochromatosis type 5 |
HFE5; FTH1-associated iron overload; FTH1-related ..
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A hemochromatosis that has_material_basis_in heter..[+]
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hemochromatosis type 2B |
HFE2B
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A hemochromatosis type 2 that has_material_basis_i..[+]
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hemochromatosis type 2 |
HFE2; JHH; juvenile hemochromatosis
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hypogonadotropic hypogonadism, cardiomyopathy, art..[+]
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hypermethioninemia due to adenosine kinase deficiency |
hypermethioninemia encephalopathy due to ADK defic..
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A hypermethioninemia characterized by autosomal re..[+]
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