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Disease	Synonyms	Description
neuroschistosomiasis		A schistosomiasis that involves parasitic infectio..[+] A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure. [-]
nutmeg liver	chronic passive congestion of liver; chronic passi.. [+] chronic passive congestion of liver; chronic passive congestion of liver (disorder) [-]	n_a
neurofibroma of spinal cord		n_a
necrotizing ulcerative gingivitis	(Vincent's angina) or (trench mouth); acute necrot.. [+] (Vincent's angina) or (trench mouth); acute necrotising ulcerative gingivitis; acute necrotising ulcerative gingivitis [Ambiguous]; acute necrotising ulcerative gingivostomatitis; acute necrotising ulcerative gingivostomatitis [Ambiguous]; acute necrotizing ulcerative gingivitis; acute necrotizing ulcerative gingivostomatitis (disorder); acute ulceromembranous gingivitis; Angina - Vincents; ANUG; early acute necrotising gingivitis; Trench mouth; Vincent angina; Vincent's Angina; Vincent's angina; Vincent's angina - pharyngitis (disorder); Vincent's angina NOS; Vincent's disease; Vincent's infection, any site [-]	n_a
nuclear senile cataract	Senile nuclear cataract; Senile nuclear sclerosis; .. [+] Senile nuclear cataract; Senile nuclear sclerosis [-]	n_a
neonatal myasthenia gravis	Neonatal myasthenia gravis (disorder); Neonatal my.. [+] Neonatal myasthenia gravis (disorder); Neonatal myasthenia gravis; Neonatal Myasthenia Gravis [-]	n_a
neurogenic arthropathy	Neuropathic arthropathy (& Charcot's); Arthropathy.. [+] Neuropathic arthropathy (& Charcot's); Arthropathy associated with neurological disorder; Charcot's arthropathy; Charcot's joint [-]	n_a
norwegian scabies	Crusted scabies	A scabies that involves infestation of human itch ..[+] A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching. [-]
neuroleptic malignant syndrome		A nervous system disease that is characterized by ..[+] A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers. [-]
neuronal ceroid lipofuscinosis	hereditary ceroid lipofuscinosis	n_a
Niemann-Pick disease	Niemann-Pick disease, subacute juvenile form; Niem.. [+] Niemann-Pick disease, subacute juvenile form; Niemann-Pick disease with cholesterol esterification block; Niemann-Pick disease type C; Niemann-Pick disease type B; Niemann-Pick disease type A; lipoid histiocytosis (classical phosphatide); sphingomyelin lipidosis; Sphingomyelinase Deficiency Disease; Type A Niemann-Pick Disease [-]	A sphingoliidosis characterized by the accumulatio..[+] A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. [-]
nickel allergic asthma	allergic asthma to Ni	An allergic asthma that has_allergic_trigger nicke..[+] An allergic asthma that has_allergic_trigger nickel atom. [-]
nephropathia epidemica		A hemorrhagic fever with renal syndrome that resul..[+] A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Orthohantavirus puumalaense, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure. [-]
nonpapillary renal cell carcinoma		A hereditary renal cell carcinoma that has_materia..[+] A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences. [-]
nonepidermolytic palmoplantar keratoderma	diffuse nonepidermolytic palmomplantar keratoderma.. [+] diffuse nonepidermolytic palmomplantar keratoderma; Thost-Unna Syndrome; tylosis; Unna-Thost Syndrome [-]	A palmoplantar keratosis characterized by a well-d..[+] A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. [-]
Netherton syndrome		n_a
nonphotosensitive trichothiodystrophy 4	AMISH BRITTLE HAIR BRAIN SYNDROME; BIDS SYNDROME; .. [+] AMISH BRITTLE HAIR BRAIN SYNDROME; BIDS SYNDROME; HAIR-BRAIN SYNDROME; BIDS syndrome; TTD4 [-]	A syndrome that is characterized by brittle hair, ..[+] A syndrome that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene. [-]
nonsyndromic deafness	nonsyndromic hereditary hearing loss; nonsyndromic.. [+] nonsyndromic hereditary hearing loss; nonsyndromic hearing loss [-]	An auditory system disease that is associated with..[+] An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms. [-]
neonatal period electroclinical syndrome		An electroclinical syndrome with onset in the neon..[+] An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. [-]
neutral lipid storage disease	Chanarin-Dorfman syndrome	A lipid storage disease that is characterized by a..[+] A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. [-]
nicotine dependence	tobacco use disorder	n_a
neuroacanthocytosis		A neurodegenerative disease that is characterized ..[+] A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. [-]
N syndrome	NSX	n_a
non-syndromic X-linked intellectual disability	non-specific X-linked mental retardation	A non-syndromic intellectual disability characteri..[+] A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. [-]
non-arteritic anterior ischemic optic neuropathy	nonarteritic anterior ischaemic optic neuropathy; .. [+] nonarteritic anterior ischaemic optic neuropathy; non-arteritic anterior ischaemic optic neuropathy; nonarteritic anterior ischemic optic neuropathy [-]	An anterior ischemic optic neuropathy that is char..[+] An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease. [-]
non-syndromic intellectual disability		An intellectual disability that is characterized b..[+] An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms. [-]
nonprogressive cerebellar ataxia with mental retardation		An autosomal dominant cerebellar ataxia that is ch..[+] An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene. [-]
nosophobia		A specific phobia that involves an irrational fear..[+] A specific phobia that involves an irrational fear of contracting a disease. [-]
non-Hodgkin lymphoma		A lymphoma that is characterized as any kind of ly..[+] A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. [-]
nonbacterial thrombotic endocarditis	non-bacterial thrombotic endocarditis; marantic en.. [+] non-bacterial thrombotic endocarditis; marantic endocarditis [-]	An endocarditis that results from the deposition o..[+] An endocarditis that results from the deposition of small sterile vegetations on valve leaflets. [-]
nervous system benign neoplasm		An organ system benign neoplasm that is located_in..[+] An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system. [-]
Native American myopathy	Bailey-Bloch congenital myopathy; congenital myopa.. [+] Bailey-Bloch congenital myopathy; congenital myopathy 13 [-]	A congenital myopathy that is characterized by con..[+] A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13. [-]
NUT midline carcinoma	nuclear protein in testis midline carcinoma	A carcinoma that is characterized by a BRD4-NUT tr..[+] A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum. [-]
Noonan syndrome 1	NS1	A Noonan syndrome that has_material_basis_in the P..[+] A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24. [-]
Noonan syndrome 2	NS2	A Noonan syndrome characterized by hypertrophic ob..[+] A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in an autosomal recessive inheritance. [-]
Noonan syndrome 3	NS3	A Noonan syndrome that has_material_basis_in heter..[+] A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene. [-]
Noonan syndrome 4	NS4	A Noonan syndrome that has_material_basis_in heter..[+] A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22. [-]
Noonan syndrome 5	NS5	A Noonan syndrome that has_material_basis_in mutat..[+] A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene. [-]
Noonan syndrome 6	NS6	A Noonan syndrome that has_material_basis in hete..[+] A Noonan syndrome that has_material_basis in heterozygous mutation in the NRAS gene on chromosome 1p13. [-]
Noonan syndrome 7	NS7	A Noonan syndrome that has_material_basis in heter..[+] A Noonan syndrome that has_material_basis in heterozygous mutation in the BRAF gene. [-]
Noonan syndrome 8	NS8	A Noonan syndrome that has_material_basis_in aused..[+] A Noonan syndrome that has_material_basis_in aused by heterozygous mutation in the RIT1 gene on chromosome 1q22. [-]
Noonan syndrome 9	NS9	A Noonan syndrome that has_material_basis_in heter..[+] A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21. [-]
Noonan syndrome 10	NS10	A Noonan syndrome that has_material_basis_in heter..[+] A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11. [-]
Nance-Horan syndrome		An X-linked disease that has_material_basis_in mut..[+] An X-linked disease that has_material_basis_in mutation in the NHS gene on chromosome Xp22. It is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies. [-]
neonatal diabetes mellitus with congenital hypothyroidism	NDH syndrome	A neonatal diabetes mellitus characterized by intr..[+] A neonatal diabetes mellitus characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life; it has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24. [-]
NGLY1-deficiency	NGLY1-CDDG; congenital disorder of deglycosylation.. [+] NGLY1-CDDG; congenital disorder of deglycosylation; congenital disorder of glycosylation type Iv; deficiency of N-glycanase 1 [-]	A carbohydrate metabolic disorder that has_materia..[+] A carbohydrate metabolic disorder that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24. It is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production. [-]
Norrie disease	Norrie-Warburg disease; atrophia bulborum heredita.. [+] Norrie-Warburg disease; atrophia bulborum hereditaria; Episkopi blindness [-]	A X-linked disease characterized by X-linked reces..[+] A X-linked disease characterized by X-linked recessive inheritance of degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients that has_material_basis_in mutation in the NDP gene on chromosome Xp11. [-]
Norman-Roberts syndrome	lissencephaly 2; lissencephaly syndrome, Norman-Ro.. [+] lissencephaly 2; lissencephaly syndrome, Norman-Roberts type [-]	A lissencephaly that has_material_basis_in homozyg..[+] A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22. [-]
Niemann-Pick disease type A		A Niemann-Pick disease characterized by onset in i..[+] A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4. [-]
Niemann-Pick disease type B		A Niemann-Pick disease characterized by visceral i..[+] A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. [-]

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