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Disease	Synonyms	Description	Articles
nephrotic syndrome type 11		A familial nephrotic syndrome characterized by ons..[+] A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15. [-]
nephrotic syndrome type 10		A familial nephrotic syndrome characterized by ear..[+] A familial nephrotic syndrome characterized by early childhood onset that has_material_basis_in homozygous or compound heterozygous mutation in the EMP2 gene on chromosome 16p13. [-]
nephrotic syndrome type 12		A familial nephrotic syndrome characterized by ear..[+] A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13. [-]
nephrotic syndrome type 7	nephrotic syndrome type 7 with membranoptoliferati.. [+] nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis; Ig-mediated membranoproliferative glomerulonephritis; Ig-mediated MPGN; immunoglobulin-mediated membranoproliferative glomerulonephritis; Immunoglobulin-mediated MPGN [-]	A familial nephrotic syndrome characterized by ons..[+] A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22. [-]
nephrotic syndrome type 8		A familial nephrotic syndrome characterized by neo..[+] A familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGDIA gene on chromosome 17q25. [-]
nephrotic syndrome type 1	Finnish congenital nephrosis	A familial nephrotic syndrome characterized by pre..[+] A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13. [-]
nephrotic syndrome type 9		A familial nephrotic syndrome characterized by ste..[+] A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13. [-]
nephrotic syndrome type 17		A familial nephrotic syndrome that has_material_ba..[+] A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25. [-]
nephrotic syndrome type 18		A familial nephrotic syndrome that has_material_ba..[+] A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42. [-]
nephrotic syndrome type 19		A familial nephrotic syndrome that has_material_ba..[+] A familial nephrotic syndrome that has_material_basis_in compound heterozygous mutation in the NUP160 gene on chromosome 11p11. [-]
non-alcoholic fatty liver	nonalcoholic fatty liver; NAFL	A metabolic dysfunction-associated steatotic liver..[+] A metabolic dysfunction-associated steatotic liver disease characterized by the absence of inflammation and hepatocyte injury in the form of hepatocyte ballooning. [-]
Noonan syndrome with multiple lentigines 1	LEOPARD syndrome 1	A Noonan syndrome with multiple lentigines that ha..[+] A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24. [-]
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. [-]
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. [-]
nephroma	benign nephroma	A kidney benign neoplasm that is located_in the ki..[+] A kidney benign neoplasm that is located_in the kidney cortex. [-]
nanophthalmos		A microphthalmia that is characterized by a small ..[+] A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. [-]
nonsyndromic aplasia cutis congenita	nonsyndromic aplasia cutis congenita	A skin disease characterized by localized areas of..[+] A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11. [-]
neuronal intestinal dysplasia type A		An intestinal pseudo-obstruction that is character..[+] An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine. [-]
neuronal intestinal dysplasia type B		An intestinal pseudo-obstruction that is affects t..[+] An intestinal pseudo-obstruction that is affects the parasympathetic submucous plexus. [-]
nonsyndromic congenital nail disorder		A nail disease that is characterized by underdevel..[+] A nail disease that is characterized by underdevelopment of nails. [-]
Noonan syndrome-like disorder with loose anagen hair		A RASopathy that is characterized by macrocephaly,..[+] A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay. [-]
Noonan syndrome-like disorder with loose anagen hair 1		A Noonan-like syndrome with loose anagen hair that..[+] A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25. [-]
Noonan syndrome-like disorder with loose anagen hair 2		A Noonan syndrome-like disorder with loose anagen ..[+] A Noonan syndrome-like disorder with loose anagen hair that has_material_basis_in heterozygous mutation in the PPP1CB gene on chromosome 2p23. [-]
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. [-]
nasal type extranodal NK/T-cell lymphoma		A mature T-cell and NK-cell lymphoma that is chara..[+] A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells. [-]
non-severe COVID-19		A COVID-19 that is characterized by the absence of..[+] A COVID-19 that is characterized by the absence of any criteria for severe or critical COVID-19. [-]
nephrogenic diabetes insipidus type 2	autosomal nephrogenic diabetes insipidus-2	A nephrogenic diabetes insipidus that is character..[+] A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding the aquaporin-2 water channel (AQP2), which maps to chromosome 12q13. [-]
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. [-]
neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies	autosomal recessive mental retardation 36	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13. [-]	1 articles
nonautoimmune hyperthyroidism	Congenital nonautoimmune hyperthyroidism	A hyperthyroidism that is characterized by passive..[+] A hyperthyroidism that is characterized by passive transfer of maternal autoantibodies and that has_material_basis_in heterozygous mutation in the thyroid-stimulating hormone receptor gene (TSHR) on chromosome 14q31. [-]
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	NEDMCR syndrome	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13. [-]
neurodevelopmental disorder with eye movement abnormalities and ataxia	NEDEMA	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties. [-]
neuronal intranuclear inclusion disease		A neurodegenerative disease that is characterized ..[+] A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (CGG) in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. [-]
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss	NEDGTH	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that is characterized by poor growth, spastic tetraplegia, and hearing loss and that has_material_basis_in homozygous mutation in the PSMC1 gene on chromosome 14q32. [-]
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	NEDAMSS	A neurodegenerative disease that is characterized ..[+] A neurodegenerative disease that is characterized by neurodevelopmental regression that became apparent between 2 and 10 years of age after normal early development in most patients, although a few had mild early delays and that has_material_basis_in heterozygous mutation in the IRF2BPL gene on chromosome 14q24. [-]
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. [-]
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset		A neurodegenerative disease that is characterized ..[+] A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35. [-]
nemaline myopathy 5B		A nemaline myopathy that has_material_basis_in aut..[+] A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset. [-]
nemaline myopathy 5C		A nemaline myopathy that has_material_basis_in aut..[+] A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13. [-]
neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36. [-]	1 articles
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome	PHRINL syndrome	A syndrome that is characterized in infants showin..[+] A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33. [-]
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. [-]
neurodevelopmental disorder with poor growth and behavioral abnormalities		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD and that has_material_basis_in homozygous or compound heterozygous mutation in the ATP9A gene on chromosome 20q13. [-]
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. [-]
neurogenic-type arthrogryposis multiplex congenita-2	AMC neurogenic type; AMCN; arthrogryposis multiple.. [+] AMC neurogenic type; AMCN; arthrogryposis multiplex congenita neurogenic type; AMC2; arthrogryposis multiplex congenita 2, neurogenic type [-]	An arthrogryposis multiplex congenita that is char..[+] An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35. [-]
neuronal ceroid lipofuscinosis 4	neuronal ceroid lipofuscinosis 4 Parry type; neuro.. [+] neuronal ceroid lipofuscinosis 4 Parry type; neuronal ceroid lipofuscinosis 4B; autosomal dominant neuronal ceroid lipofuscinosis 4B; CLN4B disease [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13. [-]
neuronal ceroid lipofuscinosis 1	neuronal ceroid lipofuscinosis 1 variable age of o.. [+] neuronal ceroid lipofuscinosis 1 variable age of onset; CLN1 [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34. [-]
neuronal ceroid lipofuscinosis 7	CLN7	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28. [-]
neuronal ceroid lipofuscinosis 8	CLN8	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23. [-]

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