Genetic diseases-N

• N-acetylglutamate synthase deficiency
• N-acetylglutamate synthetase deficiency see N-acetylglutamate synthase deficiency
• N-acetylneuraminic acid storage disease see Sialic acid storage disease
• NADH-coenzyme Q reductase deficiency see Mitochondrial complex I deficiency
• NADH-CYB5R deficiency see Autosomal recessive congenital methemoglobinemia
• NADH-cytochrome b5 reductase deficiency see Autosomal recessive congenital methemoglobinemia
• NADH:Q(1) oxidoreductase deficiency see Mitochondrial complex I deficiency
• Naegeli syndrome see Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis
• Naegeli-Franceschetti-Jadassohn syndrome see Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis
• Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis
• NAFD see Nager syndrome
• NAFLD see Non-alcoholic fatty liver disease
• NAGA deficiency see Schindler disease
• Nager acrofacial dysostosis see Nager syndrome
• Nager acrofacial dysostosis syndrome see Nager syndrome
• Nager syndrome
• NAGS deficiency see N-acetylglutamate synthase deficiency
• NAIC see North American Indian childhood cirrhosis
• NAID see Yao syndrome
• nail disorder, nonsyndromic congenital, 10 see Nonsyndromic congenital nail disorder 10
• Nail-patella syndrome
• Naito-Oyanagi disease see Dentatorubral-pallidoluysian atrophy
• Nakajo syndrome see Nakajo-Nishimura syndrome
• Nakajo-Nishimura syndrome
• NAME - Nevi, atrial myxoma, skin myxoma, ephelides syndrome see Carney complex
• NANA storage disease see Sialic acid storage disease
• Nance-Insley syndrome see Otospondylomegaepiphyseal dysplasia
• Nance-Sweeney chondrodysplasia see Otospondylomegaepiphyseal dysplasia
• NAO syndrome see Multicentric osteolysis, nodulosis, and arthropathy
• NAPB see Hereditary neuralgic amyotrophy
• Narcolepsy
• narcoleptic syndrome see Narcolepsy
• NARP see Neuropathy, ataxia, and retinitis pigmentosa
• NARP syndrome see Neuropathy, ataxia, and retinitis pigmentosa
• NASH see Non-alcoholic fatty liver disease
• Nasu-Hakola disease see Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Navajo familial neurogenic arthropathy see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• Navajo neurohepatopathy see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• Navajo neuropathy see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• NB see Neuroblastoma
• NBCCS see Gorlin syndrome
• NBCIE see Nonbullous congenital ichthyosiform erythroderma
• NBIA, PLA2G6-related see Infantile neuroaxonal dystrophy
• NBIA1 see Pantothenate kinase-associated neurodegeneration
• NBIA3 see Neuroferritinopathy
• NBIA4 see Mitochondrial membrane protein-associated neurodegeneration
• NBIA5 see Beta-propeller protein-associated neurodegeneration
• NBIE see Nonbullous congenital ichthyosiform erythroderma
• NBS see Nicolaides-Baraitser syndrome
• NCBRS see Nicolaides-Baraitser syndrome
• NCIE see Nonbullous congenital ichthyosiform erythroderma
• NDI see Nephrogenic diabetes insipidus
• NDNC10 see Nonsyndromic congenital nail disorder 10
• near-sightedness see Nearsightedness
• nearsighted see Nearsightedness
• Nearsightedness
• NEDBEH see Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
• nemaline body disease see Nemaline myopathy
• Nemaline myopathy
• nemaline myopathy 3 see Actin-accumulation myopathy
• nemaline myopathy with exclusively intranuclear rods see Intranuclear rod myopathy
• nemaline rod disease see Nemaline myopathy
• Nemoto disease see Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
• neonatal hyperinsulinism see Congenital hyperinsulinism
• Neonatal onset multisystem inflammatory disease
• Neonatal osseous dysplasia 1 see Atelosteogenesis type 2
• neonatal progeroid syndrome see Wiedemann-Rautenstrauch syndrome
• neonatal pseudo-hydrocephalic progeroid syndrome see Wiedemann-Rautenstrauch syndrome
• neonatal pseudohydrocephalic progeroid syndrome see Wiedemann-Rautenstrauch syndrome
• neonatal Schwartz-Jampel syndrome see Stüve-Wiedemann syndrome
• nephroblastoma see Wilms tumor
• Nephrogenic diabetes insipidus
• nephrolith see Kidney stones
• nephrolithiasis see Kidney stones
• nephroma see Wilms tumor
• Nephronophthisis
• nephropathy, Wilms tumor, and genital anomalies see Denys-Drash syndrome
• NETH see Netherton syndrome
• Netherton disease see Netherton syndrome
• Netherton syndrome
• Neuralgic Amyotrophy see Hereditary neuralgic amyotrophy
• neuraminidase deficiency with beta-galactosidase deficiency see Galactosialidosis
• neurilemmomatosis see Schwannomatosis
• neurilemmomatosis, congenital cutaneous see Schwannomatosis
• neurinomatosis see Schwannomatosis
• neuritis with brachial predilection see Hereditary neuralgic amyotrophy
• neuroacanthocytosis see Chorea-acanthocytosis
• neuroaxonal dystrophy, Schindler type see Schindler disease
• Neuroblastoma
• neurodegeneration due to cerebral folate transport deficiency see Cerebral folate transport deficiency
• neurodegeneration with brain iron accumulation 3 see Neuroferritinopathy
• neurodegeneration with brain iron accumulation 4 see Mitochondrial membrane protein-associated neurodegeneration
• neurodegeneration with brain iron accumulation 5 see Beta-propeller protein-associated neurodegeneration
• neurodegeneration with brain iron accumulation type 1 see Pantothenate kinase-associated neurodegeneration
• neurodegeneration with brain iron accumulation, PLA2G6-related see Infantile neuroaxonal dystrophy
• Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
• Neuroferritinopathy
• Neurofibromatosis 1 see Neurofibromatosis type 1
• neurofibromatosis 2 see Neurofibromatosis type 2
• Neurofibromatosis type 1
• neurofibromatosis type 1-like syndrome see Legius syndrome
• Neurofibromatosis type 2
• neurofibromatosis type 3 see Schwannomatosis
• neurofibromatosis type II see Neurofibromatosis type 2
• neurogenic muscle weakness, ataxia, and retinitis pigmentosa see Neuropathy, ataxia, and retinitis pigmentosa
• Neurohypophyseal diabetes insipidus
• Neuromyelitis optica
• neuronal axonal dystrophy, Schindler type see Schindler disease
• neuronal ceroid lipofuscinosis 1 see CLN1 disease
• neuronal ceroid lipofuscinosis 10 see CLN10 disease
• neuronal ceroid lipofuscinosis 5 see CLN5 disease
• neuronal ceroid lipofuscinosis 6 see CLN6 disease
• neuronal ceroid lipofuscinosis 8 see CLN8 disease
• neuronal ceroid lipofuscinosis due to cathepsin D deficiency see CLN10 disease
• neuronal ceroid lipofuscinosis, infantile see CLN1 disease
• neuronal ceroid lipofuscinosis, late-infantile see CLN5 disease
• neuronal ceroid lipofuscinosis, late-infantile see CLN2 disease
• neuronal cholesterol lipidosis see Niemann-Pick disease
• neuronal lipidosis see Niemann-Pick disease
• neuropathy, ataxia, and retinitis pigmentos see Neuropathy, ataxia, and retinitis pigmentosa
• Neuropathy, ataxia, and retinitis pigmentosa
• neuroretinoangiomatosis see Sturge-Weber syndrome
• neutral 17-beta-hydroxysteroid oxidoreductase deficiency see 17-beta hydroxysteroid dehydrogenase 3 deficiency
• neutral amino acid transport defect see Hartnup disease
• neutral lipid storage disease with ichthyosis see Chanarin-Dorfman syndrome
• Neutral lipid storage disease with myopathy
• neutral lipid storage disease without ichthyosis see Neutral lipid storage disease with myopathy
• nevoid basal cell carcinoma syndrome see Gorlin syndrome
• nevus of Cannon see White sponge nevus
• NF1 see Neurofibromatosis type 1
• NF2 see Neurofibromatosis type 2
• NFJ syndrome see Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis
• NFJS see Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis
• NFJS/DPR see Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis
• NFLS see Legius syndrome
• NGLY1-CDDG see NGLY1-congenital disorder of deglycosylation
• NGLY1-congenital disorder of deglycosylation
• NHD see Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Nicolaides-Baraitser syndrome
• NIDDM see Type 2 diabetes
• NIDDM with deafness see Maternally inherited diabetes and deafness
• Niemann-Pick disease
• night blindness, congenital stationary, autosomal dominant see Autosomal dominant congenital stationary night blindness
• Niikawa-Kuroki syndrome see Kabuki syndrome
• Nijmegen breakage syndrome
• NK-AML see Cytogenetically normal acute myeloid leukemia
• NKH see Glycine encephalopathy
• NKJO see Nakajo-Nishimura syndrome
• NLSDM see Neutral lipid storage disease with myopathy
• NMAN see Autosomal recessive axonal neuropathy with neuromyotonia
• NNH see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• Noack syndrome see Pfeiffer syndrome
• NOD see Dentatorubral-pallidoluysian atrophy
• NOD2-associated AID see Yao syndrome
• NOD2-associated autoinflammatory disease see Yao syndrome
• nodulosis-arthropathy-osteolysis syndrome see Multicentric osteolysis, nodulosis, and arthropathy
• NOG-related-symphalangism spectrum disorder see Tarsal-carpal coalition syndrome
• NOMID see Neonatal onset multisystem inflammatory disease
• Non-alcoholic fatty liver disease
• non-alcoholic steatohepatitis see Non-alcoholic fatty liver disease
• non-compaction of the left ventricular myocardium see Left ventricular noncompaction
• non-distal tetrasomy 15q see 15q11-q13 duplication syndrome
• non-familial hemiplegic migraine see Sporadic hemiplegic migraine
• non-ketotic hyperglycinemia see Glycine encephalopathy
• non-phenylketonuric hyperphenylalaninemia see Tetrahydrobiopterin deficiency
• non-Shiga-like toxin-associated HUS see Atypical hemolytic-uremic syndrome
• non-skeletal hyper-IgE syndrome see DOCK8 immunodeficiency syndrome
• non-Stx-HUS see Atypical hemolytic-uremic syndrome
• non-syndromic, non-chromosomal holoprosencephaly see Nonsyndromic holoprosencephaly
• non-syndromic, non-chromosomal HPE see Nonsyndromic holoprosencephaly
• Nonaka myopathy see Inclusion body myopathy 2
• nonalcoholic fatty liver disease see Non-alcoholic fatty liver disease
• nonalcoholic steatohepatitis see Non-alcoholic fatty liver disease
• Nonbullous congenital ichthyosiform erythroderma
• nonbullous ichthyosiform erythroderma see Nonbullous congenital ichthyosiform erythroderma
• noncompaction cardiomyopathy see Left ventricular noncompaction
• nonenteropathic HUS see Atypical hemolytic-uremic syndrome
• noninsulin-dependent diabetes mellitus see Type 2 diabetes
• noninsulin-dependent diabetes mellitus with deafness see Maternally inherited diabetes and deafness
• Nonketotic Hyperglycinemia see Glycine encephalopathy
• nonkinesigenic choreoathetosis see Familial paroxysmal nonkinesigenic dyskinesia
• Nonne-Milroy lymphedema see Milroy disease
• nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency see Glucose phosphate isomerase deficiency
• Nonsyndromic aplasia cutis congenita
• Nonsyndromic congenital nail disorder 10
• nonsyndromic deafness see Nonsyndromic hearing loss
• nonsyndromic hearing impairment see Nonsyndromic hearing loss
• Nonsyndromic hearing loss
• nonsyndromic hearing loss and deafness see Nonsyndromic hearing loss
• Nonsyndromic holoprosencephaly
• nonsyndromic HPE see Nonsyndromic holoprosencephaly
• Nonsyndromic paraganglioma
• Noonan syndrome
• Noonan syndrome with multiple lentigines
• Noonan's syndrome see Noonan syndrome
• Noonan-Ehmke syndrome see Noonan syndrome
• noradrenaline deficiency see Dopamine beta-hydroxylase deficiency
• norepinephrine deficiency see Dopamine beta-hydroxylase deficiency
• Norio syndrome see Cohen syndrome
• normal karyotype acute myeloid leukemia see Cytogenetically normal acute myeloid leukemia
• Norman-Roberts syndrome see Lissencephaly with cerebellar hypoplasia
• Norrie disease
• Norrie syndrome see Norrie disease
• Norrie's disease see Norrie disease
• Norrie-Warburg syndrome see Norrie disease
• North American Indian childhood cirrhosis
• Norum disease see Complete LCAT deficiency
• Norum's disease see Complete LCAT deficiency
• notochordal sarcoma see Chordoma
• notochordoma see Chordoma
• NPD see Niemann-Pick disease
• NPH see Nephronophthisis
• NPHP see Nephronophthisis
• NS see Netherton syndrome
• NS see Noonan syndrome
• NSML see Noonan syndrome with multiple lentigines
• nucleoside phosphorylase deficiency see Purine nucleoside phosphorylase deficiency
• NYS1 see X-linked infantile nystagmus