Health Conditions
Explore the signs and symptoms, frequency, genetic cause, and inheritance pattern of various conditions, diseases, and syndromes.
- 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
- 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
- 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
- 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
- neurilemmomatosis, see schwannomatosis
- neurilemmomatosis, congenital cutaneous, see schwannomatosis
- neurinomatosis, see schwannomatosis
- 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 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
- 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-alcoholic fatty liver disease
- non-alcoholic steatohepatitis, see non-alcoholic fatty liver 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
- nonalcoholic fatty liver disease, see non-alcoholic fatty liver disease
- nonalcoholic steatohepatitis, see non-alcoholic fatty liver disease
- 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
- 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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