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Disease	Synonyms	Description	Articles	Phenotypes
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. [-]
nemaline myopathy 4	NEM4; nemaline myopathy 4, autosomal dominant; CAP.. [+] nemaline myopathy 4, autosomal dominant; NEM4; CAP myopathy 2 [-]	A nemaline myopathy that has_material_basis_in het..[+] A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13. [-]
nemaline myopathy 11	NEM11; nemaline myopathy 11, autosomal recessive	A nemaline myopathy characterized by onset of slow..[+] A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21. [-]
nemaline myopathy 7	nemaline myopathy 7, autosomal recessive; NEM7	A nemaline myopathy characterized by very early on..[+] A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13. [-]
nemaline myopathy 6	nemaline myopathy 6, autosomal dominant	A nemaline myopathy characterized by autosomal dom..[+] A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22. [-]
nemaline myopathy 5A	NEM5; nemaline myopathy 5, Amish type; Amish nemal.. [+] nemaline myopathy 5, Amish type; NEM5; Amish nemaline myopathy; ANM [-]	A nemaline myopathy that has_material_basis_in aut..[+] A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset. [-]
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. [-]
nephronophthisis 1	NPH1; NPHP1; juvenile nephronophthisis 1	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. [-]
nephronophthisis 2	NPH2; NPHP2; infantile nephronophthisis 2	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31. [-]	2 articles	21 matches
nephronophthisis 3	NPHP3; NPH3	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22. [-]
nephronophthisis 4	NPHP4; juvenile nephronophthisis 4	A nephronophthisis that has_material_basis_in muta..[+] A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31. [-]
nephronophthisis 7	NPHP7	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13. [-]
nephronophthisis-like nephropathy 1	NPHPL1	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2. [-]
nephronophthisis 11	NPHP11	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. [-]
nephronophthisis 12	NPHP12	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24. [-]
nephronophthisis 9	NPHP9	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11. [-]
nephronophthisis 13	NPHP13	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. [-]
nephronophthisis 14	NPHP14	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1. [-]
nephronophthisis 15	NPHP15	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q. [-]
nephronophthisis 16	NPHP16	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22. [-]
nephronophthisis 18	NPHP18	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22. [-]
nephronophthisis 19	NPHP19	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22. [-]
nephronophthisis 20	NPHP20	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15. [-]
neurofibromatosis 1	neurofibromatosis type I; NF1; familial spinal neu.. [+] NF1; neurofibromatosis type I; familial spinal neurofibromatosis; Peripheral Neurofibromatosis; von Recklinghausen Disease; FSNF; Recklinghausen's neurofibromatosis [-]	A neurofibromatosis characterized by multiple cafe..[+] A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone. [-]	1 articles
NARP syndrome	Neuropathy-ataxia-retinitis pigmentosa syndrome; n.. [+] Neuropathy-ataxia-retinitis pigmentosa syndrome; neuropathy, ataxia and retinitis pigmentosa; Neurogenic muscle weakness-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. [-]
Naegeli-Franceschetti-Jadassohn syndrome	NFJ syndrome; Naegeli 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. [-]
neurogenic scapuloperoneal syndrome Kaeser type	Kaeser syndrome; scapuloperoneal syndrome type Kae.. [+] Kaeser syndrome; scapuloperoneal syndrome type Kaeser; Stark-Kaeser syndrome; scapuloperoneal syndrome, neurogenic, Kaeser type [-]	A myopathy characterized by adult onset of foot do..[+] A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35. [-]
neurooculocardiogenitourinary syndrome	NOCGUS	A syndrome characterized by impaired growth and an..[+] A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in the WDR37 gene on chromosome 10p15.3. [-]

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