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Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.
- N acetyltransferase 1 deficiency - See N acetyltransferase deficiency
- N acetyltransferase deficiency
- N syndrome
- Nablus mask-like facial syndrome
- N-acetyl glutamate synthetase deficiency - See N-acetylglutamate synthase deficiency
- N-acetyl-alpha-D-galactosaminidase deficiency type III
- N-acetyl-alpha-d-glucosaminidase deficiency - See Mucopolysaccharidosis type IIIB
- N-acetylgalactosamine-4-sulfatase deficiency - See Mucopolysaccharidosis type VI
- N-acetylgalactosamine-6-sulfate sulfatase deficiency - See Mucopolysaccharidosis type IVA
- N-acetylglucosamine 1phosphotransferase deficiency - See I cell disease
- N-acetylglucosamine-6-sulfate sulfatase deficiency - See Mucopolysaccharidosis type IIID
- N-acetylglucosaminyltransferase 2 deficiency - See MGAT2-CDG (CDG-IIa)
- N-acetylglutamate synthase deficiency
- N-Acetylneuraminic acid storage disease (former) - See Free sialic acid storage disease
- NADH coenzyme Q reductase deficiency - See Mitochondrial complex I deficiency
- NADH cytochrome B5 reductase deficiency
- NADH diaphorase deficiency - See NADH cytochrome B5 reductase deficiency
- NADH methemoglobin reductase deficiency - See NADH cytochrome B5 reductase deficiency
- NADH:Q(1) Oxidoreductase deficiency - See Mitochondrial complex I deficiency
- NADH-dependent methemoglobin reductase deficiency - See NADH cytochrome B5 reductase deficiency
- NADMR - See Charcot-Marie-Tooth disease
- Naegeli syndrome
- Naegeli-Franceschetti-Jadassohn syndrome - See Naegeli syndrome
- NAG synthetase deficiency - See N-acetylglutamate synthase deficiency
- NAGA deficiency type 2 - See Kanzaki disease
- NAGA deficiency, type 1 - See Schindler disease type 1
- Nager acrofacial dysostosis
- Nager acrofacial dysostosis syndrome - See Nager acrofacial dysostosis
- Nager syndrome - See Nager acrofacial dysostosis
- NAGS deficiency - See N-acetylglutamate synthase deficiency
- Naguib syndrome - See Naguib-Richieri-Costa syndrome
- Naguib-Richieri-Costa syndrome
- Nail disorder, nonsyndromic congenital 1 - See Twenty-nail dystrophy
- Nail disorder, nonsyndromic congenital, 3 - See Leukonychia totalis
- Nail dysplasia, isolated congenital
- Nail patella like renal disease - See Salcedo syndrome
- Nail-patella syndrome
- NAIT - See Fetal and neonatal alloimmune thrombocytopenia
- Naito Oyanagi disease - See Dentatorubral-pallidoluysian atrophy
- Najjar syndrome - See Dilated cardiomyopathy with hypergonadotropic hypogonadism
- Nakajo Nishimura syndrome
- Nakajo syndrome
- Nakamura Osame syndrome - See Spastic paraplegia 11
- NALD - See Neonatal adrenoleukodystrophy
- NAM - See Necrotizing autoimmune myopathy
- NAME syndrome - See Carney complex
- NAMSD - See Charcot-Marie-Tooth disease
- NANA storage disease (former) - See Free sialic acid storage disease
- Nance deafness - See Deafness, X-linked 2
- Nance Sweeney chondrodysplasia - See OSMED Syndrome
- Nance-Horan syndrome
- Nance-Insley syndrome - See OSMED Syndrome
- Nanocephalic dwarfism - See Seckel syndrome
- Narcolepsy
- Narcolepsy-cataplexy syndrome - See Narcolepsy
- Narcoleptic syndrome - See Narcolepsy
- NARP - See Neuropathy ataxia retinitis pigmentosa syndrome
- NARP syndrome - See Neuropathy ataxia retinitis pigmentosa syndrome
- Narrow oral fissure short stature cone shaped epiphyses
- Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness - See Johanson-Blizzard syndrome
- Nasal cavity cancer, childhood
- Nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome - See Acrodysostosis
- Nasal polyposis, familial
- Nasal T/natural killer-cell lymphoma - See Extranodal nasal NK/T cell lymphoma
- NASH - See Nonalcoholic steatohepatitis - not a rare disease
- Nasodigitoacoustic syndrome
- Nasopalpebral lipoma coloboma syndrome
- Nasopharyngeal Cancer - See Nasopharyngeal carcinoma
- Nasopharyngeal cancer, childhood
- Nasopharyngeal carcinoma
- Nasu-Hakola disease - See Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
- NAT1 deficiency - See N acetyltransferase deficiency
- Natal teeth and steatocystoma multiplex - See Steatocystoma multiplex with natal teeth
- Natal teeth, intestinal pseudoobstruction and patent ductus
- Nathalie syndrome
- Native American myopathy
- Navajo brainstem syndrome - See Athabaskan brainstem dysgenesis
- Navajo neurohepatopathy - See MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
- Navajo neuropathy - See MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
- Navicular Osteochondrosis - See Kohler disease
- Naxos disease
- NB - See Neuroblastoma
- NBCIE - See Nonbullous congenital ichthyosiform erythroderma
- NBIA - See Neurodegeneration with brain iron accumulation
- NBIA - See Pantothenate kinase-associated neurodegeneration
- NBIA due to C19orf12 mutation - See Mitochondrial Membrane Protein-Associated Neurodegeneration
- NBIA/DYT/PARK-PLA2G6
- NBIA2B - See Infantile neuroaxonal dystrophy
- NBIA4 - See Mitochondrial Membrane Protein-Associated Neurodegeneration
- NBIA5 - See Beta-Propeller Protein-Associated Neurodegeneration
- NBIA6 - See COASY Protein-Associated Neurodegeneration
- NCBRS - See Nicolaides-Baraitser syndrome
- NCCAH - See Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - not a rare disease
- NCIE - See Nonbullous congenital ichthyosiform erythroderma
- NCL - See Neuronal ceroid lipofuscinosis
- NCL, Northern epilepsy variant - See Northern epilepsy
- NCMD - See North Carolina macular dystrophy
- NDHMSD - See GRIN1-associated disorders
- NDHMSR - See GRIN1-associated disorders
- NDM - See Nondystrophic myotonia
- NDNC3 - See Leukonychia totalis
- NDP - See Norrie disease
- NDPH - See New daily-persistent headache
- Near-total intestinal aganglionosis - See Aganglionosis, total intestinal
- NEC - See Necrotizing enterocolitis
- Necrobacillosis - See Lemierre syndrome
- Necrobiosis lipoidica
- Necrobiosis lipoidica diabeticorum (formerly) - See Necrobiosis lipoidica
- Necrobiotic xanthogranuloma
- Necrotizing autoimmune myopathy
- Necrotizing encephalopathy infantile subacute of Leigh - See Leigh syndrome
- Necrotizing enterocolitis
- Necrotizing fasciitis
- NEDAMSS - See IRF2BPL-related disorders
- NEDMIAL - See Neurodevelopmental disorder with severe motor impairment and absent language
- Negative rheumatoid factor polyarthritis
- Neisseria meningitidis infection
- Nelson syndrome
- NEM5 - See Amish Nemaline Myopathy
- Nemaline body disease - See Nemaline myopathy
- Nemaline myopathy
- Nemaline myopathy 5, Amish type - See Amish Nemaline Myopathy
- Nemaline Myopathy, Amish Type - See Amish Nemaline Myopathy
- Nemaline myopathy, caused by mutation in the troponin t1 gene - See Amish Nemaline Myopathy
- Nemaline rod disease - See Nemaline myopathy
- Nemaline rod myopathy - See Nemaline myopathy
- NEMO deficiency syndrome - See NF-kappa B Essential Modulator Deficiency
- Neonatal adrenoleukodystrophy
- Neonatal death immune deficiency - See Woods Black Norbury syndrome
- Neonatal hemochromatosis
- Neonatal hepatitis (formerly) - See Neonatal hemochromatosis
- Neonatal herpes
- Neonatal herpes simplex virus infection - See Neonatal herpes
- Neonatal HIV - See Congenital human immunodeficiency virus
- Neonatal HSV infection - See Neonatal herpes
- Neonatal human immunodeficiency virus - See Congenital human immunodeficiency virus
- Neonatal hypothyroidism
- Neonatal ichthyosis-sclerosing cholangitis syndrome - See Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
- Neonatal intrahepatic cholestasis caused by citrin deficiency
- Neonatal iodine exposure - See Iodine antenatal exposure
- Neonatal Ischemic Stroke - See Neonatal stroke
- Neonatal lupus - See Neonatal systemic lupus erythematosus
- Neonatal lupus syndrome - See Neonatal systemic lupus erythematosus
- Neonatal meningitis
- Neonatal multiple carboxylase deficiency - See Holocarboxylase synthetase deficiency
- Neonatal Onset Multisystem Inflammatory disease
- Neonatal osseous dysplasia 1 - See Atelosteogenesis type 2
- Neonatal ovarian cyst
- Neonatal progeroid syndrome
- Neonatal respiratory distress syndrome - See Respiratory distress syndrome, infant
- Neonatal Schwartz-Jampel syndrome type 2 - See Stuve-Wiedemann syndrome
- Neonatal severe hyperparathyroidism
- Neonatal SLE - See Neonatal systemic lupus erythematosus
- Neonatal stroke
- Neonatal systemic lupus erythematosus
- Neonatal-onset citrullinemia type 2 - See Neonatal intrahepatic cholestasis caused by citrin deficiency
- Neonatal-onset citrullinemia type II - See Neonatal intrahepatic cholestasis caused by citrin deficiency
- Nephritis, IGA type - See IgA nephropathy
- Nephroblastoma - See Wilms' tumor
- Nephroblastomatosis fetal ascites macrosomia and wilms tumor - See Perlman syndrome
- Nephrocalcinosis
- Nephrogenic diabetes insipidus
- Nephrogenic Fibrosing Dermopathy - See Nephrogenic Systemic Fibrosis
- Nephrogenic Systemic Fibrosis
- Nephronophthisis
- Nephronophthisis familial adult spastic quadriparesis
- Nephropathia epidemica - See Balkan endemic nephropathy
- Nephropathic cystinosis
- Nephropathy - deafness - hyperparathyroidism - See Nephropathy, deafness, and hyperparathyroidism
- Nephropathy and deafness - See Autosomal recessive Alport syndrome
- Nephropathy associated with male pseudohermaphroditism and Wilms' tumor - See Denys-Drash syndrome
- Nephropathy familial with hyperuricemia
- Nephropathy from BK virus - See BK-virus nephropathy
- Nephropathy, deafness, and hyperparathyroidism
- Nephropathy, wilms tumor, and genital anomalies - See Denys-Drash syndrome
- Nephrosclerosis
- Nephrosis 1, congenital, Finnish type - See Congenital nephrotic syndrome Finnish type
- Nephrosis deafness urinary tract digital malformation
- Nephrosis neuronal dysmigration syndrome - See Galloway-Mowat syndrome
- Nephrosis with deafness and urinary tract and digital malformations - See Nephrosis deafness urinary tract digital malformation
- Nephrosis, congenital - See Congenital nephrotic syndrome Finnish type
- Nephrosis, nerve deafness, and hypoparathyroidism - See Barakat syndrome
- Nephrotic syndrome ocular anomalies
- Nephrotic syndrome, early onset with diffuse mesangial sclerosis - See Diffuse mesangial sclerosis
- Nephrotic syndrome, idiopathic, steroid-resistant
- Nephrotic syndrome, steroid-resistant, autosomal recessive - See Nephrotic syndrome, idiopathic, steroid-resistant
- Nerve deafness optic nerve atrophy, and dementia - See Jensen syndrome
- Nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy - See Groll Hirschowitz syndrome
- Nervus intermedius neuralgia - See Herpes zoster oticus
- Nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor - See Mahvash disease
- Nesidioblastosis of pancreas - See Congenital hyperinsulinism
- Nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor - See Mahvash disease
- Nestor-guillermo progeria syndrome
- NETH - See Netherton syndrome
- Netherton disease - See Netherton syndrome
- Netherton syndrome
- Nettleship-Falls type ocular albinism - See Ocular albinism type 1
- NEU 1 deficiency - See Sialidosis, type II
- Neu Laxova syndrome
- NEUG deficiency - See Sialidosis, type II
- Neuhauser Daly Magnelli syndrome
- Neuhauser Eichner Opitz syndrome
- Neuhauser syndrome - See Megalocornea-intellectual disability syndrome
- Neural crest tumor
- Neural crest-derived tumors - See Neural crest tumor
- Neural tube defects - not a rare disease
- Neuraminidase 1 deficiency - See Sialidosis, type II
- Neuraminidase deficiency - See Sialidosis, type II
- Neuraminidase deficiency with beta-galactosidase deficiency - See Galactosialidosis
- Neuraminidase/beta-galactosidase expression - See Galactosialidosis
- Neurilemmoma - See Schwannoma
- Neurilemmomatosis congenital cutaneous - See Schwannomatosis
- Neurilemoma - See Schwannoma
- Neurinoma of the acoustic nerve - See Acoustic neuroma
- Neuritis with brachial predilection - See Hereditary neuralgic amyotrophy
- Neuroacanthocytosis
- Neuroacanthocytosis syndrome - See Neuroacanthocytosis
- Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene - See Hunter Carpenter Macdonald syndrome
- Neuroaxonal dystrophy renal tubular acidosis
- NEUROAXONAL DYSTROPHY, ATYPICAL - See Infantile neuroaxonal dystrophy
- Neuroaxonal dystrophy, infantile - See Infantile neuroaxonal dystrophy
- Neuroaxonal dystrophy, late infantile - See Pantothenate kinase-associated neurodegeneration
- Neuroaxonal dystrophy, Schindler type - See Schindler disease type 1
- Neuroaxonal leukodystrophy - See Hereditary diffuse leukoencephalopathy with spheroids
- Neuroblastoma
- Neuroblastoma with Hirschsprung disease - See Hirschsprung disease ganglioneuroblastoma
- Neurocutaneous melanosis
- Neurocutaneous melanosis syndrome - See Neurocutaneous melanosis
- Neurocysticercosis - See Cysticercosis
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency - See HIBCH deficiency
- Neurodegeneration due to cerebral folate transport deficiency - See Cerebral folate deficiency
- Neurodegeneration with brain iron accululation 5 - See Beta-Propeller Protein-Associated Neurodegeneration
- Neurodegeneration with brain iron accumulation - See Pantothenate kinase-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- Neurodegeneration with brain iron accumulation 2B - See Infantile neuroaxonal dystrophy
- 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 6 - See COASY Protein-Associated Neurodegeneration
- Neurodegeneration with brain iron accumulation due to C19orf12 mutation - See Mitochondrial Membrane Protein-Associated Neurodegeneration
- Neurodegeneration with brain iron accumulation due to COASY mutation - See COASY Protein-Associated Neurodegeneration
- Neurodegeneration with brain iron accumulation type 4 - See Mitochondrial Membrane Protein-Associated Neurodegeneration
- Neurodegeneration with brain iron accumulation type 5 - See Beta-Propeller Protein-Associated Neurodegeneration
- NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED - See Infantile neuroaxonal dystrophy
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant - See GRIN1-associated disorders
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive - See GRIN1-associated disorders
- Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures - See IRF2BPL-related disorders
- Neurodevelopmental disorder with severe motor impairment and absent language
- Neuroectodermal endocrine syndrome
- Neuroectodermal tumors primitive - See Embryonal tumor with multilayered rosettes
- Neuroendocrine carcinoma of the cervix
- Neuroendocrine neoplasia - See Neuroendocrine tumor
- Neuroendocrine neoplasm - See Neuroendocrine tumor
- Neuroendocrine tumor
- Neuroendocrine tumor of pancreas - See Pancreatic neuroendocrine tumor
- Neuroepithelial cysts of third ventricle - See Colloid cysts of third ventricle
- Neuroepithelioma
- Neurofaciodigitorenal syndrome
- Neuroferritinopathy
- Neurofibroma
- Neurofibromatosis
- Neurofibromatosis central type - See Neurofibromatosis type 2
- Neurofibromatosis type 1
- Neurofibromatosis type 1 like syndrome - See Legius syndrome
- Neurofibromatosis type 1 microdeletion syndrome - See Chromosome 17q11.2 deletion syndrome
- Neurofibromatosis type 2
- Neurofibromatosis type 3 - See Schwannomatosis
- Neurofibromatosis type 6 - See Autosomal dominant café au lait spots
- Neurofibromatosis type II - See Neurofibromatosis type 2
- Neurofibromatosis with Noonan phenotype - See Neurofibromatosis-Noonan syndrome
- Neurofibromatosis-Noonan syndrome
- Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome - See Duodenal carcinoid syndrome
- Neurofibrosarcoma - See Malignant peripheral nerve sheath tumor
- Neurofibrosarcoma
- Neurogenic acroosteolysis - See Hereditary sensory and autonomic neuropathy type 2
- Neurogenic diabetes insipidus - See Central diabetes insipidus
- Neurogenic hypertension
- Neurogenic Orthostatic Hypotension - See Primary orthostatic hypotension
- Neurogenic sarcoma - See Malignant peripheral nerve sheath tumor
- Neurogenic type of AMC - See Arthrogryposis multiplex congenita neurogenic type
- Neurohypophyseal diabetes insipidus - See Central diabetes insipidus
- Neurolemmoma - See Schwannoma
- Neuroleptic malignant syndrome
- Neurolymphomatosis - See Marek disease
- Neuroma biliary tract
- Neuromyelitis optica
- Neuromyelitis optica spectrum disorder
- Neuromyotonia - See Isaacs' syndrome
- Neuronal ceroid lipofuscinosis
- Neuronal ceroid lipofuscinosis 1 - See Ceroid lipofuscinosis neuronal 1
- Neuronal ceroid lipofuscinosis 10
- Neuronal ceroid lipofuscinosis 2
- Neuronal ceroid lipofuscinosis 3
- Neuronal ceroid lipofuscinosis 4 - See Adult neuronal ceroid lipofuscinosis
- Neuronal ceroid lipofuscinosis 4B - See Autosomal dominant neuronal ceroid lipofuscinosis 4B
- Neuronal ceroid lipofuscinosis 5
- Neuronal ceroid lipofuscinosis 6
- Neuronal ceroid lipofuscinosis 7
- Neuronal ceroid lipofuscinosis 8 - See Northern epilepsy
- Neuronal ceroid lipofuscinosis 9
- Neuronal ceroid lipofuscinosis due to Cathepsin D deficiency - See Neuronal ceroid lipofuscinosis 10
- Neuronal ceroid lipofuscinosis Finnish variant - See Neuronal ceroid lipofuscinosis 5
- Neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant - See Neuronal ceroid lipofuscinosis 6
- Neuronal ceroid lipofuscinosis, Northern epilepsy variant - See Northern epilepsy
- Neuronal degeneration of childhood with liver disease, progressive - See Alpers syndrome
- Neuronal interstitial dysplasia
- Neuronal intranuclear hyaline inclusion disease - See Neuronal intranuclear inclusion disease
- Neuronal intranuclear inclusion disease
- Neuronopathy, distal hereditary motor, type VI - See Spinal muscular atrophy with respiratory distress 1
- Neuronopathy, severe infantile axonal, with respiratory failure - See Spinal muscular atrophy with respiratory distress 1
- Neuropathy amyloid - See Amyloid neuropathy
- Neuropathy ataxia retinitis pigmentosa syndrome
- Neuropathy hereditary sensory and autonomic type 1 - See Hereditary sensory neuropathy type 1
- Neuropathy hereditary sensory radicular, autosomal dominant - See Hereditary sensory neuropathy type 1
- Neuropathy of the posterior tibial nerve and its branches - See Tarsal tunnel syndrome
- Neuropathy sensory spastic paraplegia
- Neuropathy, axonal motor-sensory with deafness and mental retardation - See Charcot-Marie-Tooth disease
- Neuropathy, congenital hypomyelinating - See Charcot-Marie-Tooth disease
- Neuropathy, congenital sensory - See Hereditary sensory and autonomic neuropathy type 2
- Neuropathy, congenital sensory, with anhidrosis - See Congenital insensitivity to pain with anhidrosis
- Neuropathy, congenital, with arthrogryposis multiplex
- Neuropathy, distal hereditary motor, Jerash type
- Neuropathy, giant axonal - See Giant axonal neuropathy
- NEUROPATHY, HEREDITARY MOTOR AND SENSORY, LOM TYPE - See Charcot-Marie-Tooth disease
- Neuropathy, hereditary motor and sensory, Okinawa type
- Neuropathy, hereditary motor and sensory, Russe type
- Neuropathy, hereditary sensory and autonomic, type V - See Hereditary sensory and autonomic neuropathy type V
- Neuropathy, hereditary sensory and autonomic, type VII - See Hereditary sensory and autonomic neuropathy type 7
- Neuropathy, progressive sensory, of children - See Hereditary sensory and autonomic neuropathy type 2
- Neurosensory nonsyndromic dominant deafness 1 - See Deafness, autosomal dominant nonsyndromic sensorineural 3
- Neurosyphilis
- Neurotoxicity syndromes
- Neurovisceral storage disease with vertical supranuclear ophthalmoplegia - See Niemann-Pick disease type C1
- Neutral 17 beta hydroxysteroid oxidoreductase deficiency - See 17-beta hydroxysteroid dehydrogenase 3 deficiency
- Neutral lipid storage disease with ichthyotic - See Chanarin-Dorfman syndrome
- Neutral lipid storage disease with myopathy
- Neutral lipid storage disease without ichthyosis - See Neutral lipid storage disease with myopathy
- Neutropenia chronic familial
- Neutropenia cyclic - See Cyclic neutropenia
- Neutropenia immunoglobulin deficiency peculiar facies and bony anomalies - See Lichtenstein syndrome
- Neutropenia lethal congenital with eosinophilia
- Neutropenia monocytopenia deafness
- Neutrophil lactoferrin deficiency - See Neutrophil-specific granule deficiency
- Neutrophilic dermatosis, acute febrile - See Acute febrile neutrophilic dermatosis
- Neutrophil-specific granule deficiency
- Nevi flammei, familial multiple
- Nevi of Ito - See Nevus of Ito
- Nevo syndrome - See Kyphoscoliotic Ehlers-Danlos syndrome
- Nevoid basal cell carcinoma syndrome
- Nevoid hypermelanosis, linear and whorled - See Linear and whorled nevoid hypermelanosis
- Nevus comedonicus
- Nevus comedonicus syndrome
- Nevus mucinosis
- Nevus of Ito
- Nevus sebaceus of Jadassohn - See Linear nevus sebaceous syndrome
- New daily-persistent headache
- New onset refractory status epilepticus - See New-onset refractory status epilepticus
- New variant of CJD - See Variant Creutzfeldt-Jakob disease
- New world trypanosomiasis - See Chagas disease - not a rare disease
- New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum - See Proud syndrome
- New-onset refractory status epilepticus
- Nezelof syndrome - See Immune defect due to absence of thymus
- NF1 - See Neurofibromatosis type 1
- NF1 microdeletion syndrome - See Chromosome 17q11.2 deletion syndrome
- NF2 - See Neurofibromatosis type 2
- NF3 - See Schwannomatosis
- NF6 - See Autosomal dominant café au lait spots
- NFD - See Nephrogenic Systemic Fibrosis
- NFDR syndrome - See Neurofaciodigitorenal syndrome
- NFJ syndrome - See Naegeli syndrome
- NFJS - See Naegeli syndrome
- NF-kappa B Essential Modulator Deficiency
- NFNS - See Neurofibromatosis-Noonan syndrome
- NFTC - See Normophosphatemic familial tumoral calcinosis
- NGLY1 deficiency - See Deficiency of N-glycanase 1
- NGPS - See Nestor-guillermo progeria syndrome
- Nguyen syndrome
- NH - See Neonatal hemochromatosis
- NHBP - See X-linked periventricular heterotopia
- NHC - See Neonatal hemochromatosis
- NHD - See Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
- NICCD - See Neonatal intrahepatic cholestasis caused by citrin deficiency
- NICH - See Non-involuting congenital hemangioma
- NI-CINA - See Idiopathic neutropenia - not a rare disease
- Nicolaides-Baraitser syndrome
- Niemann Pick disease type B - See Niemann-Pick disease type B
- Niemann-Pick disease
- Niemann-Pick disease type A
- Niemann-Pick disease type B
- Niemann-Pick disease type C1
- Niemann-Pick disease type C2
- Niemann-Pick disease with cholesterol esterification block - See Niemann-Pick disease type C1
- Niemann-Pick disease, chronic neuronopathic form - See Niemann-Pick disease type C1
- Niemann-Pick disease, subacute juvenile form - See Niemann-Pick disease type C1
- Niemann-Pick disease, type C - See Niemann-Pick disease type C1
- Nievergelt syndrome
- Night Blindness - See Keratomalacia
- Night blindness-skeletal anomalies-dysmorphism syndrome
- Nightcliff gardener's disease - See Melioidosis
- Nigrospinodentatal degeneration - See Spinocerebellar ataxia 3
- NIID - See Neuronal intranuclear inclusion disease
- Niikawa-Kuroki syndrome - See Kabuki syndrome
- Nijmegen breakage syndrome
- Nipah virus encephalitis
- NIS - See Neonatal stroke
- NISCH syndrome - See Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
- Njovera - See Bejel
- NK/T-cell lymphoma - See Extranodal nasal NK/T cell lymphoma
- NK-cell malignancy - See Polymorphic reticulosis
- NKS - See Kabuki syndrome
- NKTCL - See Extranodal nasal NK/T cell lymphoma
- N-Laurylsphingosine deacylase deficiency - See Farber's disease
- NLCA - See Amyloidosis nodular localized cutaneous
- NLS - See Neu Laxova syndrome
- NLSDI - See Chanarin-Dorfman syndrome
- NLSDM - See Neutral lipid storage disease with myopathy
- NM - See Nemaline myopathy
- NMAN - See Autosomal recessive axonal neuropathy with neuromyotonia
- NMO - See Neuromyelitis optica
- NMO spectrum disorder - See Neuromyelitis optica
- NMOsd - See Neuromyelitis optica spectrum disorder
- NMSL - See Charcot-Marie-Tooth disease
- NN - See MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
- NOA syndrome - See Torg Winchester syndrome
- Noack syndrome - See Pfeiffer syndrome
- Noble Bass Sherman syndrome
- Nocardia infection - See Nocardiosis
- Nocardiosis
- Nocturnal facio-mandibular myoclonus - See Faciomandibular myoclonus, nocturnal
- NOD - See Dentatorubral-pallidoluysian atrophy
- Nodding disease - See Nodding syndrome
- Nodding syndrome
- Nodose hair - See Monilethrix
- Nodular erythema digital changes - See Nakajo syndrome
- Nodular heterotopia bilateral periventricular - See X-linked periventricular heterotopia
- Nodular melanoma
- Nodular nonsuppurative panniculitis
- Nodular primary adrenocortical dysplasia - See Cushing's syndrome
- Nodular prurigo - See Prurigo nodularis
- Nodular regenerative hyperplasia
- Nodular regenerative hyperplasia of the liver - See Nodular regenerative hyperplasia
- Nodulosis arthropathy osteolysis syndrome - See Torg Winchester syndrome
- Noma
- Noma neonatorum - See Noma
- NOMID - See Neonatal Onset Multisystem Inflammatory disease
- Non 24 hour sleep wake disorder
- Non AIDS related Kaposi sarcoma - See Kaposi sarcoma
- Non classic congenital adrenal hyperplasia - See Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - not a rare disease
- Non erupted teeth with maxillary hypoplasia and genu valgum - See Stoelinga de Koomen Davis syndrome
- Non functioning pancreatic endocrine tumor
- Non ketotic hyperglycinemia syndrome - See D-glycericacidemia
- Non-acquired isolated growth hormone deficiency - See Isolated growth hormone deficiency type 1A
- Non-acquired isolated growth hormone deficiency - See Isolated growth hormone deficiency
- Non-A-E hepatitis
- Nonaka myopathy - See Inclusion body myopathy 2
- Non-alcoholic fatty liver disease - See Nonalcoholic steatohepatitis - not a rare disease
- Nonalcoholic steatohepatitis - not a rare disease
- Non-alcoholic steatohepatitis - See Nonalcoholic steatohepatitis - not a rare disease
- Non-amyloid fibrillary glomerulonephritis - See Fibrillary glomerulonephritis
- Non-amyloid fibrillary glomerulopathy - See Fibrillary glomerulonephritis
- Nonautoimmune hyperthyroidism - See Familial hyperthyroidism due to mutations in TSH receptor
- Nonbullous congenital ichthyosiform erythroderma
- Non-bullous congenital ichthyosiform erythroderma - See Nonbullous congenital ichthyosiform erythroderma
- Non-cardiogenic pulmonary edema - See Acute respiratory distress syndrome
- Non-cirrhotic nodular transformation - See Nodular regenerative hyperplasia
- Non-cirrhotic nodulation - See Nodular regenerative hyperplasia
- Non-cirrhotic portal hypertension - See Nodular regenerative hyperplasia
- Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - not a rare disease
- Non-deforming osteogenesis imperfecta - See Osteogenesis imperfecta type I
- Non-distal tetrasomy 15q - See Isodicentric chromosome 15 syndrome
- Nondystrophic myotonia
- Non-dystrophic myotonic disorders
- Non-epileptic attack disorder (NEAD) - See Dissociative seizures
- Non-fluent primary progressive aphasia - See Progressive non-fluent aphasia
- Non-fluent variant PPA - See Progressive non-fluent aphasia
- Non-functioning endocrine pancreatic tumors - See Non functioning pancreatic endocrine tumor
- Non-functioning EPTs - See Non functioning pancreatic endocrine tumor
- Non-Hodgkin lymphoma, childhood
- Non-Hodgkin lymphoma, during pregnancy
- Non-Hodgkins gastric Lymphoma - See Lymphoma, gastric non Hodgkins type
- Nonimmune chronic idiopathic neutropenia of adults - See Idiopathic neutropenia - not a rare disease
- Noninflammatory corneal thining - See Keratoconus
- Noninvoluting congenital hemangioma - See Non-involuting congenital hemangioma
- Non-involuting congenital hemangioma
- Nonketotic hyperglycinemia - See Glycine encephalopathy
- Non-ketotic hyperglycinemia - See Glycine encephalopathy
- Non-Langerhans-Cell Histiocytosis
- Non-lissencephalic cortical dysplasia
- Nonmedullary thyroid carcinoma, papillary - See Papillary thyroid carcinoma
- Nonmedullary thyroid carcinoma, with or without cell oxyphilia
- Nonmucinous adenocarcinoma - See Adenocarcinoma of the appendix
- Nonne’s syndrome - See Milroy disease
- Nonne-Milroy disease - See Milroy disease
- Nonne-Milroy lymphedema - See Milroy disease
- Nonne-Milroy syndrome - See Milroy disease
- Non-opposable triphalangeal thumb - See Triphalangeal thumb non opposable
- Non-phenylketonuric hyperphenylalaninemia - See Tetrahydrobiopterin deficiency
- Nonpuerperal galactorrhe amenorrhea - See Ahumada Del Castillo syndrome
- Nonseminomatous germ cell tumor
- Non-seminomatous germ-cell tumors - See Nonseminomatous germ cell tumor
- Non-small cell lung cancer, childhood
- Nonspecific inflammation of the cavernous sinus or superior orbital fissure - See Tolosa Hunt syndrome
- Nonspecific mental retardation associated with retinitis pigmentosa - See Aldred syndrome
- Nonspherocytic hemolytic anemia due to hexokinase deficiency
- Nonsyndromal microcephaly - See Microcephaly nonsyndromal
- Nonsyndromal microcephaly autosomal recessive with normal intelligence - See Nijmegen breakage syndrome
- Non-syndromic biliary atresia - See Biliary atresia
- Nonsyndromic congenital nail disorder, 4 - See Anonychia congenita
- Nonsyndromic hereditary deafness DFNA17 - See Deafness, autosomal dominant nonsyndromic sensorineural 17
- Nonsyndromic hereditary sensorineural hearing loss
- Nonsyndromic microcephaly - See Microcephaly nonsyndromal
- Non-syndromic polydactyly - See Polydactyly
- Non-syndromic syndactyly - See Syndactyly - not a rare disease
- Non-telomeric tetrasomy 15q - See Isodicentric chromosome 15 syndrome
- Nontropical sprue - See Celiac disease - not a rare disease
- Nontuberculous mycobacterial lung disease
- Non-tuberculous mycobacterial lung disease - See Nontuberculous mycobacterial lung disease
- Nonvenereal syphilis - See Bejel
- Noonan like contracture myopathy hyperpyrexia - See Kousseff Nichols syndrome
- Noonan neurofibromatosis syndrome - See Neurofibromatosis-Noonan syndrome
- Noonan syndrome
- Noonan syndrome 1 - See Noonan syndrome
- Noonan syndrome 2 - See Noonan syndrome
- Noonan syndrome 3 - See Noonan syndrome
- Noonan syndrome 4 - See Noonan syndrome
- Noonan syndrome 5 - See Noonan syndrome
- Noonan syndrome 6 - See Noonan syndrome
- Noonan syndrome autosomal recessive - See Noonan syndrome
- Noonan syndrome with multiple lentigines - See LEOPARD syndrome
- Noonan-Ehmke syndrome - See Noonan syndrome
- Noonan-like syndrome with loose anagen hair
- Nora lesion - See Bizzare parosteal osteochondromatous proliferation
- Nora’s Lesion - See Bizzare parosteal osteochondromatous proliferation
- Noradrenaline deficiency - See Dopamine beta hydroxylase deficiency
- Norepinephrine deficiency - See Dopamine beta hydroxylase deficiency
- Norman Roberts lissencephaly syndrome - See Lissencephaly 2
- Normokalemic periodic paralysis
- Normokalemic PP - See Normokalemic periodic paralysis
- NormoKPP - See Normokalemic periodic paralysis
- Normophosphatemic familial tumoral calcinosis
- Norrie disease
- Norrie syndrome - See Norrie disease
- Norrie-Warburg syndrome - See Norrie disease
- NORSE - See New-onset refractory status epilepticus
- North American blastomycosis - See Blastomycosis
- North Carolina macular dystrophy
- North Sea progressive myoclonus epilepsy - See GOSR2-related progressive myoclonus ataxia
- Northern epilepsy
- Norum disease - See Familial LCAT deficiency
- Norwegian infantile onset ataxia - See Spinocerebellar ataxia autosomal recessive 6
- Norwegian scabies - See Crusted scabies
- Nose agenesia - See Arrhinia
- Nose, anomalous shape of - See Potato nose
- Nose, median cleft of - See Bifid nose
- Nosocomial Kikuchi's disease - See Kikuchi disease
- Not otherwise specified 3-MGA-uria type
- Notalgia paresthetica - not a rare disease
- Novak syndrome
- NPC1 - See Niemann-Pick disease type C1
- NPC2 - See Niemann-Pick disease type C2
- NPDC syndrome - See Duodenal carcinoid syndrome
- NPHP3-related Meckel-like syndrome - See Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
- NPHS1 - See Congenital nephrotic syndrome Finnish type
- NPS 1 - See Nail-patella syndrome
- NRAS gene related Noonan syndrome - See Noonan syndrome
- NRDS - See Respiratory distress syndrome, infant
- NS2 - See Noonan syndrome
- NS3 - See Noonan syndrome
- NS4 - See Noonan syndrome
- NS5 - See Noonan syndrome
- NS6 - See Noonan syndrome
- NSF - See Nephrogenic Systemic Fibrosis
- NSGCT - See Nonseminomatous germ cell tumor
- NSRD1 - See Deafness, autosomal dominant nonsyndromic sensorineural 3
- NSX - See N syndrome
- NTDs - See Neural tube defects - not a rare disease
- NTE related motor neuron disorder - See Spastic paraplegia 39
- NTEMND - See Spastic paraplegia 39
- NTIA - See Aganglionosis, total intestinal
- Nuchal bleb, familial - See Fetal cystic hygroma
- Nuclear gene-encoded Leigh syndrome
- Numeric sex chromosome variations - not a rare disease
- Nutcracker syndrome - See Renal nutcracker syndrome
- Nutritional cerebellar degeneration - See Subacute cerebellar degeneration
- Nutritional rickets - See Rickets
- Nv-CJD - See Variant Creutzfeldt-Jakob disease
- NXG - See Necrobiotic xanthogranuloma
- NYS1 - See Nystagmus 1, congenital, X- linked
- NYS2 - See Nystagmus 2, congenital, autosomal dominant
- NYS3 - See Nystagmus 3, congenital, autosomal dominant
- NYS4 - See Nystagmus 4, congenital, autosomal dominant
- Nystagmus 1, congenital, X- linked
- Nystagmus 2, congenital, autosomal dominant
- Nystagmus 3, congenital, autosomal dominant
- Nystagmus 4, congenital, autosomal dominant
- Nystagmus congenital, motor 2 - See Nystagmus 2, congenital, autosomal dominant
- Nystagmus, congenital motor, 1 - See Nystagmus 1, congenital, X- linked
- Nystagmus, congenital motor, autosomal recessive
- Nystagmus, hereditary vertical
- Nystagmus, macrostoma, low set ears and brachydactyly - See Maumenee syndrome
- Nystagmus, myoclonic
- Nystagmus-associated episodic ataxia - See Episodic ataxia with nystagmus
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