Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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neurodegeneration with brain iron accumulation 2a |
A neurodegeneration with brain iron accumulation t..[+]
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neurodegeneration with brain iron accumulation 2b |
Neurodegeneration With Brain Iron Accumulation, Pl..
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A neurodegeneration with brain iron accumulation t..[+]
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neurodegeneration with brain iron accumulation 3 |
A neurodegeneration with brain iron accumulation t..[+]
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neurodegeneration with brain iron accumulation 4 |
Neurodegeneration with brain iron accumulation typ..
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A neurodegeneration with brain iron accumulation t..[+]
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neurodegeneration with brain iron accumulation 5 |
NBIA5; Beta-Propeller Protein-Associated Neurodege..
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A neurodegeneration with brain iron accumulation t..[+]
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neurodegeneration with brain iron accumulation 6 |
Neurodegeneration with brain iron accumulation due..
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A neurodegeneration with brain iron accumulation t..[+]
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nemaline myopathy 1 |
nemaline myopathy 1, autosomal dominant or recessi..
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A nemaline myopathy characterized by onset typical..[+]
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nemaline myopathy 3 |
nemaline myopathy 3, autosomal dominant or recessi..
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A nemaline myopathy that has_material_basis_in hom..[+]
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nemaline myopathy 2 |
nemaline myopathy 2, autosomal recessive; NEM2
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A nemaline myopathy that has_material_basis_in hom..[+]
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nemaline myopathy 9 |
NEM9
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A nemaline myopathy characterized by onset in earl..[+]
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nemaline myopathy 8 |
nemaline myopathy 8, autosomal recessive; NEM8
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A nemaline myopathy characterized by fetal akinesi..[+]
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nemaline myopathy 10 |
NEM10
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A nemaline myopathy characterized by early-onset g..[+]
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nemaline myopathy 4 |
A nemaline myopathy that has_material_basis_in het..[+]
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nemaline myopathy 11 |
nemaline myopathy 11, autosomal recessive; NEM11
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A nemaline myopathy characterized by onset of slow..[+]
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nemaline myopathy 7 |
nemaline myopathy 7, autosomal recessive; NEM7
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A nemaline myopathy characterized by very early on..[+]
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nemaline myopathy 6 |
nemaline myopathy 6, autosomal dominant
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A nemaline myopathy characterized by autosomal dom..[+]
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nemaline myopathy 5A |
A nemaline myopathy that has_material_basis_in aut..[+]
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Newfoundland cone-rod dystrophy |
NFRCD
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A cone-rod dystrophy that has_material_basis_in ho..[+]
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nephronophthisis 1 |
NPHP1; NPH1; juvenile nephronophthisis 1
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A nephronophthisis that has_material_basis_in homo..[+]
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nephronophthisis 2 |
NPHP2; NPH2; infantile nephronophthisis 2
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A nephronophthisis that has_material_basis_in homo..[+]
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nephronophthisis 3 |
NPHP3; NPH3
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A nephronophthisis that has_material_basis_in homo..[+]
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nephronophthisis 4 |
NPHP4; juvenile nephronophthisis 4
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A nephronophthisis that has_material_basis_in muta..[+]
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nephronophthisis 7 |
NPHP7
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A nephronophthisis that has_material_basis_in homo..[+]
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nephronophthisis-like nephropathy 1 |
NPHPL1
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A nephronophthisis that has_material_basis_in homo..[+]
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nephronophthisis 11 |
NPHP11
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A nephronophthisis that has_material_basis_in homo..[+]
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nephronophthisis 12 |
NPHP12
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A nephronophthisis that has_material_basis_in homo..[+]
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nephronophthisis 9 |
NPHP9
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A nephronophthisis that has_material_basis_in homo..[+]
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nephronophthisis 13 |
NPHP13
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A nephronophthisis that has_material_basis_in homo..[+]
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nephronophthisis 14 |
NPHP14
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A nephronophthisis that has_material_basis_in homo..[+]
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nephronophthisis 15 |
NPHP15
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A nephronophthisis that has_material_basis_in homo..[+]
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nephronophthisis 16 |
NPHP16
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A nephronophthisis that has_material_basis_in homo..[+]
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nephronophthisis 18 |
NPHP18
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A nephronophthisis that has_material_basis_in homo..[+]
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nephronophthisis 19 |
NPHP19
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A nephronophthisis that has_material_basis_in homo..[+]
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nephronophthisis 20 |
NPHP20
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A nephronophthisis that has_material_basis_in homo..[+]
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neurofibromatosis 1 |
A neurofibromatosis characterized by multiple cafe..[+]
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Naegeli-Franceschetti-Jadassohn syndrome |
NFJ syndrome; Naegeli syndrome
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A ectodermal dysplasia characterized by reticulate..[+]
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neurogenic scapuloperoneal syndrome Kaeser type |
Kaeser syndrome; scapuloperoneal syndrome type Kae..
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A myopathy characterized by adult onset of foot do..[+]
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non-syndromic X-linked intellectual disability 104 |
MRX104; X-linked mental retardation 104
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A non-syndromic X-linked intellectual disability c..[+]
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non-syndromic X-linked intellectual disability ARX-related |
ARX-related intellectual disability; MRXARX; X-lin..
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A non-syndromic X-linked intellectual disability c..[+]
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non-syndromic X-linked intellectual disability 20 |
MRX20; X-linked mental retardation 20
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A non-syndromic X-linked intellectual disability t..[+]
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non-syndromic X-linked intellectual disability 45 |
MRX45; X-linked mental retardation 45
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A non-syndromic X-linked intellectual disability c..[+]
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non-syndromic X-linked intellectual disability 84 |
MRX84; X-linked mental retardation 84
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A non-syndromic X-linked intellectual disability c..[+]
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non-syndromic X-linked intellectual disability 81 |
MRX81; X-linked mental retardation 81
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A non-syndromic X-linked intellectual disability c..[+]
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non-syndromic X-linked intellectual disability 9 |
MRX44; MRX9; X-linked mental retardation 44; X-lin..
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A non-syndromic X-linked intellectual disability c..[+]
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non-syndromic X-linked intellectual disability 100 |
MRX100; X-linked mental retardation 100
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A non-syndromic X-linked intellectual disability c..[+]
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non-syndromic X-linked intellectual disability 98 |
MRX98; X-linked mental retardation 98
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A non-syndromic X-linked intellectual disability c..[+]
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non-syndromic X-linked intellectual disability 30 |
MRX30; MRX47; X-linked mental retardation 30; X-li..
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A non-syndromic X-linked intellectual disability c..[+]
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non-syndromic X-linked intellectual disability 88 |
MRX88; X-linked mental retardation 88
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A non-syndromic X-linked intellectual disability c..[+]
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non-syndromic X-linked intellectual disability 41 |
MRX41; MRX48; X-linked mental retardation 41; X-li..
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A non-syndromic X-linked intellectual disability c..[+]
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nuclear type mitochondrial complex I deficiency |
MC1DN
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A mitochondrial complex I deficiency that has_mate..[+]
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