Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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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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neurofibromatosis-Noonan syndrome |
A RASopathy characterized by neurofibromatosis and..[+]
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nonphotosensitive trichothiodystrophy |
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A trichothiodystrophy characterized by absence of ..[+]
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nonphotosensitive trichothiodystrophy 5 |
TTD5
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A nonphotosensitive trichothiodystrophy characteri..[+]
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nonphotosensitive trichothiodystrophy 7 |
TTD7
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A nonphotosensitive trichothiodystrophy characteri..[+]
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nonphotosensitive trichothiodystrophy 6 |
TTD6
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A nonphotosensitive trichothiodystrophy that has_m..[+]
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non-syndromic X-linked intellectual disability 2 |
MRX2; X-linked mental retardation 2; X-linked men..
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A non-syndromic X-linked intellectual disability c..[+]
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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 19 |
MRX19; X-linked mental retardation 19
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A non-syndromic X-linked intellectual disability c..[+]
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non-syndromic X-linked intellectual disability 103 |
MRX103; X-linked mental retardation 103
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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 21 |
MRX21; MRX34; X-linked mental retardation 21; X-li..
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A non-syndromic X-linked intellectual disability c..[+]
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non-syndromic X-linked intellectual disability 58 |
MRX58; X-linked mental retardation 58
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A non-syndromic X-linked intellectual disability c..[+]
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non-syndromic X-linked intellectual disability 99 |
MRX99; X-linked mental retardation 99
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A non-syndromic X-linked intellectual disability c..[+]
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non-syndromic X-linked intellectual disability 14 |
MRX14; X-linked mental retardation 14
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A non-syndromic X-linked intellectual disability c..[+]
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non-syndromic X-linked intellectual disability 50 |
MRX50; X-linked mental retardation 50
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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 92 |
MRX92; X-linked mental retardation 92
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A non-syndromic X-linked intellectual disability c..[+]
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non-syndromic X-linked intellectual disability 9 |
MRX44; X-linked mental retardation 44; X-linked me..
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A non-syndromic X-linked intellectual disability c..[+]
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non-syndromic X-linked intellectual disability 105 |
MRX105; X-linked mental retardation 105
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A non-syndromic X-linked intellectual disability c..[+]
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