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Disease	Synonyms	Description	Articles
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. [-]
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. [-]
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. [-]
neuronal ceroid lipofuscinosis 8 northern epilepsy variant	northern epilepsy variant, neuronal ceroid lipofus.. [+] northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant; progressive epilepsy with mental retardation, northern epilepsy; EPMR; 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; CLN10; Cathepsin D deficiency [-]	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 6A	neuronal ceroid lipofuscinosis 6; neuronal ceroid .. [+] neuronal ceroid lipofuscinosis 6; neuronal ceroid lipofuscinosis 6 variable age of onset; CLN6 [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23. [-]
neuronal ceroid lipofuscinosis 6B	neuronal ceroid lipofuscinosis 4A; autosomal reces.. [+] neuronal ceroid lipofuscinosis 4A; 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 myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging 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. [-]	1 articles
neurodegeneration with brain iron accumulation 2a	NBIA2a; Neurodegeneration, Pla2g6-Associated; INAD.. [+] Neurodegeneration, Pla2g6-Associated; NBIA2a; INAD1; Infantile Neuroaxonal Dystrophy 1; Seitelberger Disease [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life. [-]
neurodegeneration with brain iron accumulation 2b	Neuroaxonal Dystrophy, Atypical; Neurodegeneration.. [+] Neuroaxonal Dystrophy, Atypical; Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related; NBIA2b [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1. [-]
neurodegeneration with brain iron accumulation 3	Neuroferritinopathy; NBIA3; Neuroferritinopathy; A.. [+] Neuroferritinopathy; NBIA3; Neuroferritinopathy; Adult basal ganglia disease; Ferritin-related neurodegeneration; Hereditary ferritinopathy; Basal Ganglia Disease, Adult-Onset [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33. [-]
neurodegeneration with brain iron accumulation 4	Neurodegeneration with brain iron accumulation typ.. [+] Neurodegeneration with brain iron accumulation type 4; Neurodegeneration with brain iron accumulation due to C19orf12 mutation; NBIA4; NBIA due to C19orf12 mutation; Mitochondrial Protein-Associated Neurodegeneration; MPAN [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12. [-]
neurodegeneration with brain iron accumulation 5	NBIA5; Beta-Propeller Protein-Associated Neurodege.. [+] NBIA5; Beta-Propeller Protein-Associated Neurodegeneration; BPAN; SENDA; Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23. [-]
neurodegeneration with brain iron accumulation 6	Neurodegeneration with brain iron accumulation due.. [+] Neurodegeneration with brain iron accumulation due to COASY mutation; NBIA6; CoPAN [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2. [-]
nemaline myopathy 1	nemaline myopathy 1, autosomal dominant or recessi.. [+] nemaline myopathy 1, autosomal dominant or recessive; NEM1; congenital myopathy 4B [-]	A nemaline myopathy characterized by onset typical..[+] A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21. [-]
nemaline myopathy 3	nemaline myopathy 3, autosomal dominant or recessi.. [+] nemaline myopathy 3, autosomal dominant or recessive; NEM3; congenital myopathy 2A [-]	A nemaline myopathy that has_material_basis_in hom..[+] A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42. [-]
nemaline myopathy 2	NEM2; nemaline myopathy 2, autosomal recessive; co.. [+] nemaline myopathy 2, autosomal recessive; NEM2; congenital myopathy 2 [-]	A nemaline myopathy that has_material_basis_in hom..[+] A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. [-]
nemaline myopathy 9	NEM9	A nemaline myopathy characterized by onset in earl..[+] A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31. [-]
nemaline myopathy 8	nemaline myopathy 8, autosomal recessive; NEM8	A nemaline myopathy characterized by fetal akinesi..[+] A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22. [-]
nemaline myopathy 10	NEM10; congenital myopathy 10	A nemaline myopathy characterized by early-onset g..[+] A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14. [-]

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