Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Niemann-Pick disease type C1 |
NPC1
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A Niemann-Pick disease that has_material_basis_in ..[+]
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Niemann-Pick disease type C2 |
NPC2
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A Niemann-Pick disease that has_material_basis_in ..[+]
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neurodevelopmental disorder with speech impairment and dysmorphic facies |
NEDSID
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A autosomal dominant intellectual developmental di..[+]
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neuronal intestinal dysplasia |
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n_a
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neural tube defect |
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n_a
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Neu-Laxova syndrome 2 |
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A serine deficiency that is characterized by multi..[+]
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Neu-Laxova syndrome 1 |
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n_a
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nonsyndromic congenital nail disorder 1 |
twenty-nail dystrophy
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n_a
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nonsyndromic congenital nail disorder 2 |
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n_a
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nonsyndromic congenital nail disorder 3 |
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A nonsyndromic congenital nail disorder that is ch..[+]
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nonsyndromic congenital nail disorder 4 |
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n_a
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nonsyndromic congenital nail disorder 5 |
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A nonsyndromic congenital nail disorder that is ch..[+]
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nonsyndromic congenital nail disorder 6 |
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n_a
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nonsyndromic congenital nail disorder 7 |
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n_a
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nonsyndromic congenital nail disorder 8 |
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n_a
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nonsyndromic congenital nail disorder 9 |
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n_a
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normophosphatemic familial tumoral calcinosis |
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A calcinosis that is characterized by massive peri..[+]
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nonmucinous bronchioloalveolar adenocarcinoma |
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A bronchiolo-alveolar adenocarcinoma that is chara..[+]
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nonalcoholic fatty liver disease |
non-alcoholic fatty liver disease
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A fatty liver disease characterized by the storing..[+]
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nephrotic syndrome type 13 |
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A familial nephrotic syndrome characterized by ear..[+]
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nephrotic syndrome type 4 |
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A familial nephrotic syndrome that has_material_ba..[+]
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nephrotic syndrome type 7 |
nephrotic syndrome type 7 with membranoptoliferati..
[+]
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A familial nephrotic syndrome characterized by ons..[+]
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non-alcoholic fatty liver |
NAFL
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A nonalcoholic fatty liver disease that is charact..[+]
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Noonan syndrome with multiple lentigines 2 |
LEOPARD syndrome 2
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A Noonan syndrome with multiple lentigines that ha..[+]
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nanophthalmos |
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A microphthalmia that is characterized by a small ..[+]
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neuronal intestinal dysplasia type A |
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An intestinal pseudo-obstruction that is character..[+]
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neuronal intestinal dysplasia type B |
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An intestinal pseudo-obstruction that is affects t..[+]
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Noonan syndrome-like disorder with loose anagen hair 1 |
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A Noonan-like syndrome with loose anagen hair that..[+]
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nonobstructive coronary artery disease |
non-CAD
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A coronary artery disease that is characterized by..[+]
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non-severe COVID-19 |
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A COVID-19 that is characterized by the absence of..[+]
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N1 diffuse large B-cell lymphoma |
N1 DLBCL
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A diffuse large B-cell lymphoma that is categorize..[+]
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neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies |
autosomal recessive mental retardation 36
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An autosomal recessive intellectual developmental ..[+]
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Nestor-Guillermo progeria syndrome |
Progeria syndrome, childhood-onset, with osteolysi..
[+]
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A progeroid syndrome that is characterized by lipo..[+]
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Nasu-Hakola disease |
NHD; PLO-SL; PLOSL; polycystic lipomembranous oste..
[+]
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A syndrome that is characterized by progressive pr..[+]
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neurogenic arthrogryposis multiplex congenita |
AMC neurogenic type; AMCN; arthrogryposis multiple..
[+]
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A nervous system disease characterized by congenit..[+]
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neuronal ceroid lipofuscinosis 4 |
A neuronal ceroid lipofuscinosis that is character..[+]
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neuronal ceroid lipofuscinosis 1 |
neuronal ceroid lipofuscinosis 1 variable age of o..
[+]
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A neuronal ceroid lipofuscinosis that is character..[+]
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neuronal ceroid lipofuscinosis 7 |
CLN7
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A neuronal ceroid lipofuscinosis that is character..[+]
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neuronal ceroid lipofuscinosis 8 |
CLN8
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A neuronal ceroid lipofuscinosis that is character..[+]
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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 6 |
neuronal ceroid lipofuscinosis 6 variable age of o..
[+]
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A neuronal ceroid lipofuscinosis that is character..[+]
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neuronal ceroid lipofuscinosis 4A |
autosomal recessive neuronal ceroid lipofuscinosis..
[+]
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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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