Health Conditions - Genetics Home Reference: N

Health Conditions - Genetics Home Reference

Health Conditions

• N-acetylglutamate synthase deficiency
• N-acetylglutamate synthetase deficiency, see N-acetylglutamate synthase deficiency
• N-acetylneuraminic acid storage disease, see sialic acid storage disease
• NADH-CYB5R deficiency, see autosomal recessive congenital methemoglobinemia
• NADH-cytochrome b5 reductase deficiency, see autosomal recessive congenital methemoglobinemia
• 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
• 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
• 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
• 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
• NBIA, PLA2G6-related, see infantile neuroaxonal dystrophy
• NBIA1, see pantothenate kinase-associated neurodegeneration
• NBIA3, see neuroferritinopathy
• NBIA4, see mitochondrial membrane protein-associated neurodegeneration
• NBS, see Nicolaides-Baraitser syndrome
• NCBRS, see Nicolaides-Baraitser syndrome
• NDI, see nephrogenic diabetes insipidus
• 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 Schwartz-Jampel syndrome, see Stüve-Wiedemann syndrome
• nephrogenic diabetes insipidus
• 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
• neuritis with brachial predilection, see hereditary neuralgic amyotrophy
• 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 type 1, see pantothenate kinase-associated neurodegeneration
• neurodegeneration with brain iron accumulation, PLA2G6-related, see infantile neuroaxonal dystrophy
• 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 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 infantile neuronal ceroid lipofuscinosis
• neuronal ceroid lipofuscinosis 10, see CLN10 disease
• neuronal ceroid lipofuscinosis 8, see Northern epilepsy
• neuronal ceroid lipofuscinosis 8, Northern epilepsy variant, see Northern epilepsy
• neuronal ceroid lipofuscinosis due to cathepsin D deficiency, see CLN10 disease
• neuronal ceroid lipofuscinosis, infantile, see infantile neuronal ceroid lipofuscinosis
• neuronal ceroid lipofuscinosis, late-infantile, see late-infantile neuronal ceroid lipofuscinosis
• 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
• 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
• NHD, see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Nicolaides-Baraitser syndrome
• 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
• 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-distal tetrasomy 15q, see isodicentric chromosome 15 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 autosomal recessive hyper-IgE 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
• nonbullous congenital ichthyosiform erythroderma
• nonenteropathic HUS, see atypical hemolytic-uremic syndrome
• 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 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
• Northern epilepsy
• 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