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
- 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
- NAM, see STAC3 disorder
- 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
- 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 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 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
- 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 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
- 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 CLN2 disease
- Neuronal ceroid lipofuscinosis, late-infantile, see CLN5 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
- 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 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
- 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
- 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 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