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Disease	Synonyms	Description
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 NPC1 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 NPC2 on chromosome 14q24.3. [-]
neurodevelopmental disorder with speech impairment and dysmorphic facies	NEDSID	A autosomal dominant intellectual developmental di..[+] A autosomal dominant intellectual developmental disorder characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11. [-]
neuronal intestinal dysplasia		n_a
neural tube defect		n_a
Neu-Laxova syndrome 2		A serine deficiency that is characterized by multi..[+] A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine. [-]
Neu-Laxova syndrome 1		n_a
nonsyndromic congenital nail disorder 1	twenty-nail dystrophy	n_a
nonsyndromic congenital nail disorder 2		n_a
nonsyndromic congenital nail disorder 3		A nonsyndromic congenital nail disorder that is ch..[+] A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails. [-]
nonsyndromic congenital nail disorder 4		n_a
nonsyndromic congenital nail disorder 5		A nonsyndromic congenital nail disorder that is ch..[+] A nonsyndromic congenital nail disorder that is characterized by a decreased growth rate, thick and hard nails, and a straight or concave proximal edge of detachment. [-]
nonsyndromic congenital nail disorder 6		n_a
nonsyndromic congenital nail disorder 7		n_a
nonsyndromic congenital nail disorder 8		n_a
nonsyndromic congenital nail disorder 9		n_a
normophosphatemic familial tumoral calcinosis		A calcinosis that is characterized by massive peri..[+] A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors. [-]
nonmucinous bronchioloalveolar adenocarcinoma		A bronchiolo-alveolar adenocarcinoma that is chara..[+] A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation. [-]
nonalcoholic fatty liver disease	non-alcoholic fatty liver disease	A fatty liver disease characterized by the storing..[+] A fatty liver disease characterized by the storing of excess fat in liver cells which is is not caused by heavy alcohol use. [-]
nephrotic syndrome type 13		A familial nephrotic syndrome characterized by ear..[+] A familial nephrotic syndrome characterized by early onset of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis that has_material_basis_in homozygous mutation in the NUP205 gene on chromosome 7q33. [-]
nephrotic syndrome type 4		A familial nephrotic syndrome that has_material_ba..[+] A familial nephrotic syndrome that has_material_basis_in heterozygous mutation in the WT1 gene on chromosome 11p13. [-]
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. [-]
non-alcoholic fatty liver	NAFL	A nonalcoholic fatty liver disease that is charact..[+] A nonalcoholic fatty liver disease that is characterized by the presence of at least 5% of hepatic steatosis with no evidence of hepatocellular injury in the form of hepatocyte ballooning. [-]
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. [-]
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. [-]
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. [-]
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. [-]
nonobstructive coronary artery disease	non-CAD	A coronary artery disease that is characterized by..[+] A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent. [-]
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. [-]
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. [-]
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. [-]
Nasu-Hakola disease	NHD; PLO-SL; PLOSL; polycystic lipomembranous oste.. [+] NHD; PLO-SL; PLOSL; polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; presenile dementia with bone cysts; progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease [-]	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 arthrogryposis multiplex congenita	AMC neurogenic type; AMCN; arthrogryposis multiple.. [+] AMC neurogenic type; AMCN; arthrogryposis multiplex congenita neurogenic type [-]	A nervous system disease characterized by congenit..[+] A nervous system disease characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor nueron depletion that has_material_basis_in variation in the chromosome region 5q35. [-]
neuronal ceroid lipofuscinosis 4	neuronal ceroid lipofuscinosis 4B; neuronal ceroid.. [+] neuronal ceroid lipofuscinosis 4B; neuronal ceroid lipofuscinosis 4 Parry type; 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. [-]
neuronal ceroid lipofuscinosis 8 northern epilepsy variant	northern epilepsy variant, neuronal ceroid lipofus.. [+] northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant; EPMR; progressive epilepsy with mental retardation, northern epilepsy; progressive epilepsy-intellectual disability syndrome, Finnish type [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23. [-]
neuronal ceroid lipofuscinosis 10	neuronal ceroid lipofuscinosis due to cathepsin D .. [+] neuronal ceroid lipofuscinosis due to cathepsin D deficiency; neuronal ceroid lipofuscinosis cathepsin D-deficient; Cathepsin D deficiency; CLN10 [-]	A neuronal ceroid lipofuscinosis that has_material..[+] A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15. [-]
neuronal ceroid lipofuscinosis 2	neuronal ceroid lipofuscinosis 2 variable age at o.. [+] neuronal ceroid lipofuscinosis 2 variable age at onset; CLN2 [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15. [-]
neuronal ceroid lipofuscinosis 13	neuronal ceroid lipofuscinosis 13 Kufs type; CLN13.. [+] neuronal ceroid lipofuscinosis 13 Kufs type; CLN13 [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13. [-]
neuronal ceroid lipofuscinosis 5	neuronal ceroid lipofuscinosis 5 variable age of o.. [+] neuronal ceroid lipofuscinosis 5 variable age of onset; CLN5 [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22. [-]
neuronal ceroid lipofuscinosis 6	neuronal ceroid lipofuscinosis 6 variable age of o.. [+] neuronal ceroid lipofuscinosis 6 variable age of onset; CLN6 [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23. [-]
neuronal ceroid lipofuscinosis 4A	autosomal recessive neuronal ceroid lipofuscinosis.. [+] autosomal recessive neuronal ceroid lipofuscinosis 4A; CLN4A [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive dementia, seizures, and progressive visual failure and lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23. [-]
neuronal ceroid lipofuscinosis 3	CLN3; Batten disease; juvenile neuronal ceroid lip.. [+] CLN3; Batten disease; juvenile neuronal ceroid lipofuscinosis [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11. [-]
neuronal ceroid lipofuscinosis 11	CLN11	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q. [-]
neuronal ceroid lipofuscinosis 9	CLN9	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seziures. [-]
neurodegeneration with brain iron accumulation	NBIA	A neurodegenerative disease characterized by progr..[+] A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. [-]

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