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Disease Synonyms Description Articles Phenotypes
Muenke Syndrome
FGFR3-related craniosynostosis;
A craniosyntosis characterized by autosomal domina..[+]
Muir-Torre syndrome
n_a
Mulchandani-Bhoj-Conlin syndrome
maternal uniparental disomy of chromosome 20; mate.. [+]
A syndrome characterized by prenatal growth restri..[+]
Mullegama-Klein-Martinez syndrome
MKMS; NEDXCF; X-linked neurodevelopmental disorder.. [+]
A syndromic X-linked intellectual disability chara..[+]
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..[+]
N syndrome
NSX;
n_a
N1 diffuse large B-cell lymphoma
N1 DLBCL;
A diffuse large B-cell lymphoma that is categorize..[+]
NGLY1-deficiency
congenital disorder of deglycosylation; congenital.. [+]
A carbohydrate metabolic disorder that has_materia..[+]
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..[+]
Nager acrofacial dysostosis
acrofacial dysostosis 1, Nager type; AFD; Nager sy.. [+]
An acrofacial dysostosis characterized by underdev..[+]
Nance-Horan syndrome
An X-linked disease that has_material_basis_in mut..[+]
Nasu-Hakola disease
NHD; PLO-SL; PLOSL; polycystic lipomembranous oste.. [+]
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..[+]
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
n_a
Neu-Laxova syndrome 1
n_a
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);.. [+]
n_a
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.. [+]
n_a
Noonan syndrome
Turner's phenotype, karyotype normal (disorder); T.. [+]
A RASopathy that is characterized by mildly unusua..[+]
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 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 hete..[+]
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 aused..[+]
Noonan syndrome 9
NS9;
A Noonan syndrome that has_material_basis_in heter..[+]
Noonan syndrome with multiple lentigines 2
LEOPARD syndrome 2;
A Noonan syndrome with multiple lentigines that ha..[+]
Noonan syndrome-like disorder with loose anagen hair 1
A Noonan-like syndrome with loose anagen hair that..[+]
Norman-Roberts syndrome
lissencephaly 2; lissencephaly syndrome, Norman-Ro.. [+]
A lissencephaly that has_material_basis_in homozyg..[+]
Norrie disease
atrophia bulborum hereditaria; Episkopi blindness;.. [+]
A X-linked disease characterized by X-linked reces..[+]
Norum disease
lecithin acyltransferase deficiency; LECITHIN:CHOL.. [+]
n_a
O'nyong'nyong fever
A viral infectious disease that results_in infecti..[+]
Ogden syndrome
N-alpha-acetyltransferase; N-terminal acetyltransf.. [+]
An X-linked disease resulting from a deficiency in..[+]
Oguchi disease-1
congenital stationary night blindness Oguchi type .. [+]
A hereditary night blindness characterized by cong..[+]

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