Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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neuronal ceroid lipofuscinosis 8 northern epilepsy variant |
northern epilepsy variant, neuronal ceroid lipofus..
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A neuronal ceroid lipofuscinosis that is character..[+]
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neuronal ceroid lipofuscinosis 10 |
neuronal ceroid lipofuscinosis due to cathepsin D ..
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A neuronal ceroid lipofuscinosis that has_material..[+]
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neuronal ceroid lipofuscinosis 2 |
neuronal ceroid lipofuscinosis 2 variable age at o..
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A neuronal ceroid lipofuscinosis that is character..[+]
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neuronal ceroid lipofuscinosis 13 |
neuronal ceroid lipofuscinosis 13 Kufs type; CLN13..
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A neuronal ceroid lipofuscinosis that is character..[+]
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neuronal ceroid lipofuscinosis 5 |
neuronal ceroid lipofuscinosis 5 variable age of o..
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A neuronal ceroid lipofuscinosis that is character..[+]
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neuronal ceroid lipofuscinosis 6A |
A neuronal ceroid lipofuscinosis that is character..[+]
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neuronal ceroid lipofuscinosis 6B |
neuronal ceroid lipofuscinosis 4A; autosomal reces..
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A neuronal ceroid lipofuscinosis that is character..[+]
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neuronal ceroid lipofuscinosis 3 |
CLN3; Batten disease; juvenile neuronal ceroid lip..
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A neuronal ceroid lipofuscinosis that is character..[+]
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neuronal ceroid lipofuscinosis 11 |
CLN11
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A neuronal ceroid lipofuscinosis that is character..[+]
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neuronal ceroid lipofuscinosis 9 |
CLN9
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A neuronal ceroid lipofuscinosis that is character..[+]
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neurodegeneration with brain iron accumulation |
NBIA
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A neurodegenerative disease characterized by progr..[+]
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1 articles | |
neurodegeneration with brain iron accumulation 2a |
A neurodegeneration with brain iron accumulation t..[+]
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neurodegeneration with brain iron accumulation 2b |
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 |
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; congenital myopathy 10
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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 |
NEM11; nemaline myopathy 11, autosomal recessive
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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 |
NPH1; NPHP1; juvenile nephronophthisis 1
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A nephronophthisis that has_material_basis_in homo..[+]
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nephronophthisis 2 |
NPH2; NPHP2; infantile nephronophthisis 2
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A nephronophthisis that has_material_basis_in homo..[+]
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2 articles | 21 matches |
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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1 articles | ||
NARP syndrome |
A mitochondrial metabolism disease characterized b..[+]
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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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neurooculocardiogenitourinary syndrome |
NOCGUS
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A syndrome characterized by impaired growth and an..[+]
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