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Disease Synonyms Description Articles Phenotypes
Munchausen by proxy
A factitious disorder that involves a care giver's..[+]
Murray Valley encephalitis
Australian encephalitis; Australian X disease;
A viral infectious disease that results_in inflamm..[+]
Mycobacterium avium complex disease
Infection due to Mycobacterium intracellulare; Inf.. [+]
A primary bacterial infectious disease that result..[+]
Mycoplasma pneumoniae pneumonia
cold agglutinin positive pneumonia; Mycoplasmal pn.. [+]
A bacterial pneumonia that is caused by the bacter..[+]
N syndrome
NSX;
A syndrome that is characterized by intellectual d..[+]
N,N'-diethylthiourea allergic contact dermatitis
neoprene allergy;
An allergic contact dermatitis that has_allergic_t..[+]
N,N'-diphenylthiourea allergic contact dermatitis
neoprene allergy;
An allergic contact dermatitis that has_allergic_t..[+]
N-acetylglutamate synthase deficiency
hyperammonemia due to N-acetylglutamate synthase d.. [+]
A urea cycle disorder characterized by accumulatio..[+]
N1 diffuse large B-cell lymphoma
N1 DLBCL;
A diffuse large B-cell lymphoma that is categorize..[+]
NARP syndrome
Neurogenic muscle weakness-ataxia-retinitis pigmen.. [+]
A mitochondrial metabolism disease characterized b..[+]
NESCAV syndrome
MRD9; autosomal dominant intellectual disability 9.. [+]
An autosomal dominant intellectual developmental d..[+]
NFIA-related disorder
1p31p32 microdeletion syndrome; brain malformation.. [+]
A syndrome that has_material_basis_in heterozygous..[+]
NK cell deficiency
A primary immunodeficiency disease that results fr..[+]
NUT midline carcinoma
nuclear protein in testis midline carcinoma;
A carcinoma that is characterized by a BRD4-NUT tr..[+]
Naegeli-Franceschetti-Jadassohn syndrome
Naegeli syndrome; NFJ syndrome;
A ectodermal dysplasia characterized by reticulate..[+]
Nagashima-type palmoplantar keratosis
NPPK; palmoplantar keratoderma nagashima type; PPK.. [+]
A nonepidermolytic palmoplantar keratoderma charac..[+]
Nager acrofacial dysostosis
acrofacial dysostosis 1, Nager type; Nager syndrom.. [+]
An acrofacial dysostosis characterized by underdev..[+]
5 articles
Nance-Horan syndrome
A syndrome that has_material_basis_in mutation in ..[+]
Nasu-Hakola disease
NHD; polycystic lipomembranous osteodysplasia with.. [+]
A syndrome that is characterized by progressive pr..[+]
Native American myopathy
Bailey-Bloch congenital myopathy; congenital myopa.. [+]
A congenital myopathy that is characterized by con..[+]
Naxos disease
A nonepidermolytic palmoplantar keratoderma that i..[+]
Nelson syndrome
Nelson's syndrome;
n_a
Nestor-Guillermo progeria syndrome
Progeria syndrome, childhood-onset, with osteolysi.. [+]
A progeroid syndrome that is characterized by lipo..[+]
Netherton syndrome
A skin disease that is characterized by chronic sk..[+]
Neu-Laxova syndrome 1
A serine deficiency that is characterized by multi..[+]
Neu-Laxova syndrome 2
A serine deficiency that is characterized by multi..[+]
Newcastle disease
Newcastle's disease; Pseudo-fowlpest;
A viral infectious disease that results_in infecti..[+]
Newfoundland cone-rod dystrophy
NFRCD;
A cone-rod dystrophy that has_material_basis_in ho..[+]
Nezelof syndrome
Nezelof's syndrome; Nezelof's syndrome (disorder);.. [+]
A T cell deficiency that results from the disfunct..[+]
Nicolaides-Baraitser syndrome
Intellectual disability-sparse hair-brachydactyly .. [+]
A syndrome that is characterized by severely impai..[+]
Niemann-Pick disease
lipoid histiocytosis (classical phosphatide); Niem.. [+]
A sphingoliidosis characterized by the accumulatio..[+]
Niemann-Pick disease type A
A Niemann-Pick disease characterized by onset in i..[+]
Niemann-Pick disease type B
A Niemann-Pick disease characterized by visceral i..[+]
Niemann-Pick disease type C1
NPC1;
A Niemann-Pick disease that has_material_basis_in ..[+]
Niemann-Pick disease type C2
NPC2;
A Niemann-Pick disease that has_material_basis_in ..[+]
Nijmegen breakage syndrome
Berlin breakage syndrome; Microcephaly, normal int.. [+]
A syndrome characterized by chromosomal instabilit..[+]
1 articles
Nipah virus encephalitis
A viral infectious disease that results_in inflamm..[+]
Noonan syndrome
Turner's phenotype, karyotype normal (disorder); T.. [+]
A RASopathy that is characterized by mildly unusua..[+]
4 articles 24 matches
Noonan syndrome 1
NS1;
A Noonan syndrome that has_material_basis_in the P..[+]
Noonan syndrome 10
NS10;
A Noonan syndrome that has_material_basis_in heter..[+]
Noonan syndrome 11
NS11;
A Noonan syndrome characterized by clinical charac..[+]
Noonan syndrome 12
NS12;
A Noonan syndrome characterized by macrocephaly, f..[+]
Noonan syndrome 13
NS13;
A Noonan syndrome characterized by developmental d..[+]
Noonan syndrome 2
NS2;
A Noonan syndrome characterized by hypertrophic ob..[+]
Noonan syndrome 3
NS3;
A Noonan syndrome that has_material_basis_in heter..[+]
Noonan syndrome 4
NS4;
A Noonan syndrome that has_material_basis_in heter..[+]
Noonan syndrome 5
NS5;
A Noonan syndrome that has_material_basis_in mutat..[+]
Noonan syndrome 6
NS6;
A Noonan syndrome that has_material_basis_in heter..[+]
Noonan syndrome 7
NS7;
A Noonan syndrome that has_material_basis_in heter..[+]
Noonan syndrome 8
NS8;
A Noonan syndrome that has_material_basis_in cause..[+]

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