Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Munchausen by proxy |
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A factitious disorder that involves a care giver's..[+]
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Murray Valley encephalitis |
Australian encephalitis; Australian X disease;
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A viral infectious disease that results_in inflamm..[+]
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Mycobacterium avium complex disease |
Infection due to Mycobacterium intracellulare; Inf..
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A primary bacterial infectious disease that result..[+]
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Mycoplasma pneumoniae pneumonia |
cold agglutinin positive pneumonia; Mycoplasmal pn..
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A bacterial pneumonia that is caused by the bacter..[+]
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N syndrome |
NSX;
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A syndrome that is characterized by intellectual d..[+]
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N,N'-diethylthiourea allergic contact dermatitis |
neoprene allergy;
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An allergic contact dermatitis that has_allergic_t..[+]
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N,N'-diphenylthiourea allergic contact dermatitis |
neoprene allergy;
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An allergic contact dermatitis that has_allergic_t..[+]
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N-acetylglutamate synthase deficiency |
hyperammonemia due to N-acetylglutamate synthase d..
[+]
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A urea cycle disorder characterized by accumulatio..[+]
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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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NARP syndrome |
Neurogenic muscle weakness-ataxia-retinitis pigmen..
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A mitochondrial metabolism disease characterized b..[+]
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NESCAV syndrome |
MRD9; autosomal dominant intellectual disability 9..
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An autosomal dominant intellectual developmental d..[+]
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NFIA-related disorder |
1p31p32 microdeletion syndrome; brain malformation..
[+]
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A syndrome that has_material_basis_in heterozygous..[+]
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NK cell deficiency |
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A primary immunodeficiency disease that results fr..[+]
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NUT midline carcinoma |
nuclear protein in testis midline carcinoma;
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A carcinoma that is characterized by a BRD4-NUT tr..[+]
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Naegeli-Franceschetti-Jadassohn syndrome |
Naegeli syndrome; NFJ syndrome;
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A ectodermal dysplasia characterized by reticulate..[+]
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Nagashima-type palmoplantar keratosis |
NPPK; palmoplantar keratoderma nagashima type; PPK..
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A nonepidermolytic palmoplantar keratoderma charac..[+]
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Nager acrofacial dysostosis |
acrofacial dysostosis 1, Nager type; Nager syndrom..
[+]
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An acrofacial dysostosis characterized by underdev..[+]
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5 articles | |
Nance-Horan syndrome |
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A syndrome that has_material_basis_in mutation in ..[+]
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Nasu-Hakola disease |
NHD; polycystic lipomembranous osteodysplasia with..
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A syndrome that is characterized by progressive pr..[+]
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Native American myopathy |
Bailey-Bloch congenital myopathy; congenital myopa..
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A congenital myopathy that is characterized by con..[+]
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Naxos disease |
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A nonepidermolytic palmoplantar keratoderma that i..[+]
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Nelson syndrome |
Nelson's syndrome;
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n_a
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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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Netherton syndrome |
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A skin disease that is characterized by chronic sk..[+]
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Neu-Laxova syndrome 1 |
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A serine deficiency that is characterized by multi..[+]
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Neu-Laxova syndrome 2 |
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A serine deficiency that is characterized by multi..[+]
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Newcastle disease |
Newcastle's disease; Pseudo-fowlpest;
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A viral infectious disease that results_in infecti..[+]
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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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Nezelof syndrome |
Nezelof's syndrome; Nezelof's syndrome (disorder);..
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A T cell deficiency that results from the disfunct..[+]
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Nicolaides-Baraitser syndrome |
Intellectual disability-sparse hair-brachydactyly ..
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A syndrome that is characterized by severely impai..[+]
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Niemann-Pick disease |
lipoid histiocytosis (classical phosphatide); Niem..
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A sphingoliidosis characterized by the accumulatio..[+]
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Niemann-Pick disease type A |
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A Niemann-Pick disease characterized by onset in i..[+]
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Niemann-Pick disease type B |
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A Niemann-Pick disease characterized by visceral i..[+]
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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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Nijmegen breakage syndrome |
Berlin breakage syndrome; Microcephaly, normal int..
[+]
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A syndrome characterized by chromosomal instabilit..[+]
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1 articles | |
Nipah virus encephalitis |
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A viral infectious disease that results_in inflamm..[+]
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Noonan syndrome |
Turner's phenotype, karyotype normal (disorder); T..
[+]
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A RASopathy that is characterized by mildly unusua..[+]
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4 articles | 24 matches |
Noonan syndrome 1 |
NS1;
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A Noonan syndrome that has_material_basis_in the P..[+]
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Noonan syndrome 10 |
NS10;
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A Noonan syndrome that has_material_basis_in heter..[+]
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Noonan syndrome 11 |
NS11;
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A Noonan syndrome characterized by clinical charac..[+]
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Noonan syndrome 12 |
NS12;
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A Noonan syndrome characterized by macrocephaly, f..[+]
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Noonan syndrome 13 |
NS13;
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A Noonan syndrome characterized by developmental d..[+]
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Noonan syndrome 2 |
NS2;
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A Noonan syndrome characterized by hypertrophic ob..[+]
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Noonan syndrome 3 |
NS3;
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A Noonan syndrome that has_material_basis_in heter..[+]
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Noonan syndrome 4 |
NS4;
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A Noonan syndrome that has_material_basis_in heter..[+]
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Noonan syndrome 5 |
NS5;
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A Noonan syndrome that has_material_basis_in mutat..[+]
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Noonan syndrome 6 |
NS6;
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A Noonan syndrome that has_material_basis_in heter..[+]
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Noonan syndrome 7 |
NS7;
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A Noonan syndrome that has_material_basis_in heter..[+]
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Noonan syndrome 8 |
NS8;
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A Noonan syndrome that has_material_basis_in cause..[+]
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