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
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Contributors: Prab R. Tumpati, MD