Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.

• N-acetylglutamate synthase deficiency
• N-acetylglutamate synthetase deficiency, see N-acetylglutamate synthase deficiency
• 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
• NAM, see STAC3 disorder
• NAME - Nevi, atrial myxoma, skin myxoma, ephelides syndrome, see Carney complex
• 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
• Native American myopathy, see STAC3 disorder
• 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 Arginine vasopressin resistance
• NDNC10, see Nonsyndromic congenital nail disorder 10
• Near-sightedness, see Nearsightedness
• Nearsighted, see Nearsightedness
• Nearsightedness
• NEDAUS, see CUL3-related neurodevelopmental disorder
• 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 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
• Neoplasm of the bladder, see Bladder cancer
• Neoplasm of the urinary bladder, see Bladder cancer
• Nephroblastoma, see Wilms tumor
• Nephrogenic diabetes insipidus, see Arginine vasopressin resistance
• 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
• Neurodevelopmental disorder with or without autism or seizures, see CUL3-related neurodevelopmental disorder
• 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 2 merlin, see 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, see Arginine vasopressin deficiency
• 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 Nonketotic hyperglycinemia
• NKJO, see Nakajo-Nishimura syndrome
• NLRP3-associated autoinflammatory disease, see Cryopyrin-associated periodic syndromes
• NLSDI, see Chanarin-Dorfman 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
• 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 Nonketotic hyperglycinemia
• 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 distal myopathy , see GNE myopathy
• Nonaka myopathy, see GNE myopathy
• 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
• 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 46,XX testicular disorder/difference of sex development, see 46,XX testicular difference of sex development
• 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
• 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 Noonan syndrome
• NS, see Netherton syndrome
• NSML, see Noonan syndrome with multiple lentigines
• Nucleoside phosphorylase deficiency, see Purine nucleoside phosphorylase deficiency
• NYS1, see X-linked infantile nystagmus