N - Health Conditions - Genetics Home Reference - NIH

N - Health Conditions - Genetics Home Reference - NIH

• 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