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Disease	Synonyms	Description	Articles	Phenotypes
Mycobacterium avium complex disease	Infection due to Mycobacterium intracellulare; Inf.. [+] Infection due to Mycobacterium intracellulare; Infection due to Mycobacterium intracellulare (disorder); MAC disease; Mycobacterium avium Complex; Mycobacterium Avium Infection; [-]	A primary bacterial infectious disease that result..[+] A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons. [-]
Mycoplasma pneumoniae pneumonia	cold agglutinin positive pneumonia; Mycoplasmal pn.. [+] cold agglutinin positive pneumonia; Mycoplasmal pneumonia; Pneumonia due to Eaton's agent; Pneumonia due to Mycoplasma pneumoniae; Pneumonia due to Mycoplasma pneumoniae (disorder); Mycoplasma pneumonia; [-]	A bacterial pneumonia that is caused by the bacter..[+] A bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat. [-]
N syndrome	NSX;	A syndrome that is characterized by intellectual d..[+] A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity. [-]
N-acetylglutamate synthase deficiency	hyperammonemia due to N-acetylglutamate synthase d.. [+] hyperammonemia due to N-acetylglutamate synthase deficiency; N-acetyl glutamate synthetase deficiency; N-acetylglutamate synthetase deficiency; NAG synthetase deficiency; NAGS deficiency; [-]	A urea cycle disorder characterized by accumulatio..[+] A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31. [-]
N1 diffuse large B-cell lymphoma	N1 DLBCL;	A diffuse large B-cell lymphoma that is categorize..[+] A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features. [-]
NARP syndrome	Neurogenic muscle weakness-ataxia-retinitis pigmen.. [+] Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; neuropathy, ataxia and retinitis pigmentosa; Neuropathy-ataxia-retinitis pigmentosa syndrome; [-]	A mitochondrial metabolism disease characterized b..[+] A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. [-]
NESCAV syndrome	MRD9; autosomal dominant intellectual disability 9.. [+] MRD9; autosomal dominant intellectual disability 9; autosomal dominant mental retardation 9; autosomal dominant non-syndromic intellectual disability 9; NESCAVS; neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment; [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3. [-]
NFIA-related disorder	1p31p32 microdeletion syndrome; brain malformation.. [+] 1p31p32 microdeletion syndrome; brain malformations with or without urinary tract defects; chromosome 1p32-p31 deletion syndrome; [-]	A syndrome that has_material_basis_in heterozygous..[+] A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia. [-]
NGLY1-deficiency	congenital disorder of deglycosylation; congenital.. [+] congenital disorder of deglycosylation; congenital disorder of glycosylation type Iv; NGLY1-CDDG; deficiency of N-glycanase 1; [-]	A carbohydrate metabolic disorder that is characte..[+] A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24. [-]
NK cell deficiency		A primary immunodeficiency disease that results fr..[+] A primary immunodeficiency disease that results from defeciency in the number or function of CD56+CD3− NK cell in peripheral blood. [-]
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. [-]
Naegeli-Franceschetti-Jadassohn syndrome	Naegeli syndrome; NFJ syndrome;	A ectodermal dysplasia characterized by reticulate..[+] A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. [-]
Nager acrofacial dysostosis	acrofacial dysostosis 1, Nager type; Nager syndrom.. [+] acrofacial dysostosis 1, Nager type; Nager syndrome; preaxial acrofacial dysostosis; preaxial manibulofacial dysostosis; AFD; [-]	An acrofacial dysostosis characterized by underdev..[+] An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children. [-]	5 articles
Nance-Horan syndrome		A syndrome that has_material_basis_in mutation in ..[+] A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies. [-]
Nasu-Hakola disease	NHD; polycystic lipomembranous osteodysplasia with.. [+] NHD; polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease ; presenile dementia with bone cysts; PLO-SL; PLOSL; [-]	A syndrome that is characterized by progressive pr..[+] A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21. [-]
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. [-]
Naxos disease		A nonepidermolytic palmoplantar keratoderma that i..[+] A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21. [-]
Nelson syndrome	Nelson's syndrome;	n_a
Nestor-Guillermo progeria syndrome	Progeria syndrome, childhood-onset, with osteolysi.. [+] Progeria syndrome, childhood-onset, with osteolysis; [-]	A progeroid syndrome that is characterized by lipo..[+] A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age. [-]
Netherton syndrome		A skin disease that is characterized by chronic sk..[+] A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin. [-]
Neu-Laxova syndrome 1		n_a
Neu-Laxova syndrome 2		n_a
Newcastle disease	Newcastle's disease; Pseudo-fowlpest;	A viral infectious disease that results_in infecti..[+] A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Avian orthoavulavirus 1, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds. [-]
Newfoundland cone-rod dystrophy	NFRCD;	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26. [-]
Nezelof syndrome	Nezelof's syndrome; Nezelof's syndrome (disorder);.. [+] Nezelof's syndrome; Nezelof's syndrome (disorder); T-lymphocyte deficiency; thymic dysplasia with normal immunoglobulins; thymic aplasia; TIDTA; T-cell immunodeficiency with thymic aplasia; [-]	A T cell deficiency that results from the disfunct..[+] A T cell deficiency that results from the disfunction or underdevelopment of the thymus. [-]
Nicolaides-Baraitser syndrome	Intellectual disability-sparse hair-brachydactyly .. [+] Intellectual disability-sparse hair-brachydactyly syndrome; SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; [-]	A syndrome that is characterized by severely impai..[+] A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. [-]
Niemann-Pick disease	lipoid histiocytosis (classical phosphatide); Niem.. [+] lipoid histiocytosis (classical phosphatide); Niemann-Pick disease type A; Niemann-Pick disease type B; Niemann-Pick disease type C; Niemann-Pick disease with cholesterol esterification block; Niemann-Pick disease, subacute juvenile form; sphingomyelin lipidosis; Sphingomyelinase Deficiency Disease; Type A Niemann-Pick Disease; lipoid histiocytosis; [-]	A sphingoliidosis characterized by the accumulatio..[+] A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. [-]
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 the SMPD1 gene 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. [-]
Niemann-Pick disease type C1	NPC1;	A Niemann-Pick disease that has_material_basis_in ..[+] A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2. [-]
Niemann-Pick disease type C2	NPC2;	A Niemann-Pick disease that has_material_basis_in ..[+] A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3. [-]
Nijmegen breakage syndrome	Berlin breakage syndrome; Microcephaly, normal int.. [+] Berlin breakage syndrome; Microcephaly, normal intelligence and immunodeficiency (disorder); Seemanova syndrome; immunodeficiency-microcephaly-chromosomal instability syndrome; Microcephaly, normal intelligence and immunodeficiency; microcephaly-immunodeficiency-lymphoreticuloma syndrome; NBS; Seemanova syndrome II; ataxia-telangiectasia variant; Seemanova syndrome type 2; [-]	A syndrome characterized by chromosomal instabilit..[+] A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3. [-]	1 articles
Nipah virus encephalitis		A viral infectious disease that results_in inflamm..[+] A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus, which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma. [-]
Noonan syndrome	Turner's phenotype, karyotype normal (disorder); T.. [+] Turner's phenotype, karyotype normal (disorder); Turner's phenotype, karyotype normal; [-]	A RASopathy that is characterized by mildly unusua..[+] A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. [-]	3 articles	24 matches
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 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. [-]
Noonan syndrome 11	NS11;	A Noonan syndrome characterized by clinical charac..[+] A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in the MRAS gene on chromosome 3q22.3. [-]
Noonan syndrome 12	NS12;	A Noonan syndrome characterized by macrocephaly, f..[+] A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in the RRAS2 gene on chromosome 11p15.2. [-]
Noonan syndrome 13	NS13;	A Noonan syndrome characterized by developmental d..[+] A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase. [-]
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 heter..[+] 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 cause..[+] A Noonan syndrome that has_material_basis_in caused 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 with multiple lentigines	Generalized lentiginosis (disorder); Gorlin syndro.. [+] Generalized lentiginosis (disorder); Gorlin syndrome II; Lentiginosis profusa syndrome; LEOPARD syndrome; Moynahan syndrome; Cardiocutaneous syndrome; Multiple lentigines syndrome (disorder); Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome; Noonan syndrome with multiple lentigines; Generalized lentiginosis; Progressive cardiomyopathic lentiginosis; Multiple lentigines syndrome; [-]	A RASopathy that is characterized by autosomal dom..[+] A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature. [-]	1 articles
Noonan syndrome with multiple lentigines 2	LEOPARD syndrome 2;	A Noonan syndrome with multiple lentigines that ha..[+] A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the RAF1 gene on chromosome 3p25. [-]
Noonan syndrome with multiple lentigines 3	LEOPARD syndrome 3;	A Noonan syndrome with multiple lentigines that ha..[+] A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34. [-]

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