List of rare diseases-N
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NIH genetic and rare disease info[edit source]
List of rare diseases-N is a rare disease.
- N acetyltransferase 1 deficiency
- N acetyltransferase deficiency
- N syndrome
- Nablus mask-like facial syndrome
- N-acetyl glutamate synthetase deficiency
- N-acetyl-alpha-D-galactosaminidase deficiency type III
- N-acetyl-alpha-d-glucosaminidase deficiency
- N-acetylgalactosamine-4-sulfatase deficiency
- N-acetylgalactosamine-6-sulfate sulfatase deficiency
- N-acetylglucosamine 1phosphotransferase deficiency
- N-acetylglucosamine-6-sulfate sulfatase deficiency
- N-acetylglucosaminyltransferase 2 deficiency
- N-acetylglutamate synthase deficiency
- N-Acetylneuraminic acid storage disease (former)
- NADH coenzyme Q reductase deficiency
- NADH cytochrome B5 reductase deficiency
- NADH diaphorase deficiency
- NADH methemoglobin reductase deficiency
- NADH:Q(1) Oxidoreductase deficiency
- NADH-dependent methemoglobin reductase deficiency
- NADMR
- Naegeli syndrome
- Naegeli-Franceschetti-Jadassohn syndrome
- NAG synthetase deficiency
- NAGA deficiency type 2
- NAGA deficiency type 3
- NAGA deficiency, type 1
- Nager acrofacial dysostosis
- Nager acrofacial dysostosis syndrome
- Nager syndrome
- NAGS deficiency
- Naguib syndrome
- Naguib-Richieri-Costa syndrome
- Nail disorder, nonsyndromic congenital 1
- Nail disorder, nonsyndromic congenital, 3
- Nail dysplasia, isolated congenital
- Nail patella like renal disease
- Nail-patella syndrome
- NAIT
- Naito Oyanagi disease
- Najjar syndrome
- Nakajo Nishimura syndrome
- Nakajo syndrome
- Nakamura Osame syndrome
- NALD
- NAM
- NAME syndrome
- NAMSD
- NANA storage disease (former)
- Nance deafness
- Nance Sweeney chondrodysplasia
- Nance-Horan syndrome
- Nance-Insley syndrome
- Nanocephalic dwarfism
- Narcolepsy
- Narcolepsy-cataplexy syndrome
- Narcoleptic syndrome
- NARP
- NARP syndrome
- Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness
- Nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome
- Nasal polyposis, familial
- Nasal T/natural killer-cell lymphoma
- NASH- not a rare disease.
- Nasodigitoacoustic syndrome
- Nasopalpebral lipoma coloboma syndrome
- Nasopharyngeal Cancer
- Nasopharyngeal carcinoma
- Nasu-Hakola disease
- NAT1 deficiency
- Natal teeth and steatocystoma multiplex
- Natal teeth, intestinal pseudoobstruction and patent ductus
- Nathalie syndrome
- Native American myopathy
- Navajo brainstem syndrome
- Navajo neurohepatopathy
- Navajo neuropathy
- Navicular Osteochondrosis
- Naxos disease
- NB
- NBCIE
- NBIA
- NBIA
- NBIA due to C19orf12 mutation
- NBIA/DYT/PARK-PLA2G6
- NBIA2B
- NBIA4
- NBIA5
- NBIA6
- NCBRS
- NCCAH- not a rare disease.
- NCIE
- NCL
- NCL, Northern epilepsy variant
- NCMD
- NDHMSD
- NDHMSR
- NDM
- NDNC3
- NDP
- NDPH
- Near-total intestinal aganglionosis
- NEC
- Necrobacillosis
- Necrobiosis lipoidica
- Necrobiosis lipoidica diabeticorum (formerly)
- Necrobiotic xanthogranuloma
- Necrotizing autoimmune myopathy
- Necrotizing encephalopathy infantile subacute of Leigh
- Necrotizing enterocolitis
- Necrotizing fasciitis
- NEDAMSS
- NEDMIAL
- Negative rheumatoid factor polyarthritis
- Neisseria meningitidis infection
- Nelson syndrome
- NEM5
- Nemaline body disease
- Nemaline myopathy
- Nemaline myopathy 5, Amish type
- Nemaline Myopathy, Amish Type
- Nemaline myopathy, caused by mutation in the troponin t1 gene
- Nemaline rod disease
- Nemaline rod myopathy
- NEMO deficiency syndrome
- Neonatal adrenoleukodystrophy
- Neonatal death immune deficiency
- Neonatal hemochromatosis
- Neonatal hepatitis (formerly)
- Neonatal herpes
- Neonatal herpes simplex virus infection
- Neonatal HIV
- Neonatal HSV infection
- Neonatal human immunodeficiency virus
- Neonatal hypothyroidism
- Neonatal ichthyosis-sclerosing cholangitis syndrome
- Neonatal intrahepatic cholestasis caused by citrin deficiency
- Neonatal iodine exposure
- Neonatal Ischemic Stroke
- Neonatal lupus
- Neonatal lupus syndrome
- Neonatal meningitis
- Neonatal multiple carboxylase deficiency
- Neonatal Onset Multisystem Inflammatory disease
- Neonatal osseous dysplasia 1
- Neonatal ovarian cyst
- Neonatal progeroid syndrome
- Neonatal respiratory distress syndrome
- Neonatal Schwartz-Jampel syndrome type 2
- Neonatal severe hyperparathyroidism
- Neonatal SLE
- Neonatal stroke
- Neonatal systemic lupus erythematosus
- Neonatal-onset citrullinemia type 2
- Neonatal-onset citrullinemia type II
- Nephritis, IGA type
- Nephroblastoma
- Nephroblastomatosis fetal ascites macrosomia and wilms tumor
- Nephrocalcinosis
- Nephrogenic diabetes insipidus
- Nephrogenic Fibrosing Dermopathy
- Nephrogenic Systemic Fibrosis
- Nephronophthisis
- Nephropathia epidemica
- Nephropathic cystinosis
- Nephropathy - deafness - hyperparathyroidism
- Nephropathy and deafness
- Nephropathy associated with male pseudohermaphroditism and Wilms' tumor
- Nephropathy from BK virus
- Nephropathy, deafness, and hyperparathyroidism
- Nephropathy, wilms tumor, and genital anomalies
- Nephrosclerosis
- Nephrosis 1, congenital, Finnish type
- Nephrosis deafness urinary tract digital malformation
- Nephrosis neuronal dysmigration syndrome
- Nephrosis with deafness and urinary tract and digital malformations
- Nephrosis, congenital
- Nephrosis, nerve deafness, and hypoparathyroidism
- Nephrotic syndrome ocular anomalies
- Nephrotic syndrome, early onset with diffuse mesangial sclerosis
- Nephrotic syndrome, idiopathic, steroid-resistant
- Nephrotic syndrome, steroid-resistant, autosomal recessive
- Nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy
- Nervus intermedius neuralgia
- Nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor
- Nesidioblastosis of pancreas
- Nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor
- Nestor-guillermo progeria syndrome
- NETH
- Netherton disease
- Netherton syndrome
- Nettleship-Falls type ocular albinism
- NEU 1 deficiency
- Neu Laxova syndrome
- NEUG deficiency
- Neuhauser syndrome
- Neuhauser-Eichner-Opitz syndrome
- Neu-Laxova syndrome
- Neural crest tumor
- Neural crest-derived tumors
- Neural tube defects- not a rare disease.
- Neuraminidase 1 deficiency
- Neuraminidase deficiency
- Neuraminidase deficiency with beta-galactosidase deficiency
- Neuraminidase/beta-galactosidase expression
- Neurilemmoma
- Neurilemmomatosis congenital cutaneous
- Neurilemoma
- Neurinoma of the acoustic nerve
- Neuritis with brachial predilection
- Neuroacanthocytosis
- Neuroacanthocytosis syndrome
- Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene
- Neuroaxonal dystrophy renal tubular acidosis
- NEUROAXONAL DYSTROPHY, ATYPICAL
- Neuroaxonal dystrophy, infantile
- Neuroaxonal dystrophy, late infantile
- Neuroaxonal dystrophy, Schindler type
- Neuroaxonal leukodystrophy
- Neuroblastoma
- Neuroblastoma with Hirschsprung disease
- Neurocutaneous melanosis
- Neurocutaneous melanosis syndrome
- Neurocysticercosis
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- Neurodegeneration due to cerebral folate transport deficiency
- Neurodegeneration with brain iron accululation 5
- Neurodegeneration with brain iron accumulation
- Neurodegeneration with brain iron accumulation
- Neurodegeneration with brain iron accumulation 2B
- Neurodegeneration with brain iron accumulation 4
- NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
- Neurodegeneration with brain iron accumulation 6
- Neurodegeneration with brain iron accumulation due to C19orf12 mutation
- Neurodegeneration with brain iron accumulation due to COASY mutation
- Neurodegeneration with brain iron accumulation type 4
- Neurodegeneration with brain iron accumulation type 5
- NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
- Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
- Neurodevelopmental disorder with severe motor impairment and absent language
- Neuroectodermal endocrine syndrome
- Neuroectodermal tumors primitive
- Neuroendocrine carcinoma of the cervix
- Neuroendocrine neoplasia
- Neuroendocrine neoplasm
- Neuroendocrine tumor
- Neuroendocrine tumor of pancreas
- Neuroepithelial cysts of third ventricle
- Neuroepithelioma
- Neurofaciodigitorenal syndrome
- Neuroferritinopathy
- Neurofibroma
- Neurofibromatosis
- Neurofibromatosis central type
- Neurofibromatosis type 1
- Neurofibromatosis type 1 like syndrome
- Neurofibromatosis type 1 microdeletion syndrome
- Neurofibromatosis type 2
- Neurofibromatosis type 3
- Neurofibromatosis type 6
- Neurofibromatosis type II
- Neurofibromatosis with Noonan phenotype
- Neurofibromatosis-Noonan syndrome
- Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome
- Neurofibrosarcoma
- Neurofibrosarcoma
- Neurogenic acroosteolysis
- Neurogenic diabetes insipidus
- Neurogenic Orthostatic Hypotension
- Neurogenic sarcoma
- Neurogenic type of AMC
- Neurohypophyseal diabetes insipidus
- Neurolemmoma
- Neuroleptic malignant syndrome
- Neurolymphomatosis
- Neuroma biliary tract
- Neuromyelitis optica
- Neuromyelitis optica spectrum disorder
- Neuromyotonia
- Neuronal ceroid lipofuscinosis
- Neuronal ceroid lipofuscinosis 1
- Neuronal ceroid lipofuscinosis 10
- Neuronal ceroid lipofuscinosis 2
- Neuronal ceroid lipofuscinosis 3
- Neuronal ceroid lipofuscinosis 4
- Neuronal ceroid lipofuscinosis 4B
- Neuronal ceroid lipofuscinosis 5
- Neuronal ceroid lipofuscinosis 6
- Neuronal ceroid lipofuscinosis 7
- Neuronal ceroid lipofuscinosis 8
- Neuronal ceroid lipofuscinosis 9
- Neuronal ceroid lipofuscinosis due to Cathepsin D deficiency
- Neuronal ceroid lipofuscinosis Finnish variant
- Neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant
- Neuronal ceroid lipofuscinosis, Northern epilepsy variant
- Neuronal degeneration of childhood with liver disease, progressive
- Neuronal interstitial dysplasia
- Neuronal intranuclear hyaline inclusion disease
- Neuronal intranuclear inclusion disease
- Neuronopathy, distal hereditary motor, type VI
- Neuronopathy, severe infantile axonal, with respiratory failure
- Neuropathy amyloid
- Neuropathy ataxia retinitis pigmentosa syndrome
- Neuropathy hereditary sensory and autonomic type 1
- Neuropathy hereditary sensory radicular, autosomal dominant
- Neuropathy of the posterior tibial nerve and its branches
- Neuropathy, axonal motor-sensory with deafness and mental retardation
- Neuropathy, congenital hypomyelinating
- Neuropathy, congenital sensory
- Neuropathy, congenital sensory, with anhidrosis
- Neuropathy, congenital, with arthrogryposis multiplex
- Neuropathy, distal hereditary motor, Jerash type
- Neuropathy, giant axonal
- NEUROPATHY, HEREDITARY MOTOR AND SENSORY, LOM TYPE
- Neuropathy, hereditary motor and sensory, Okinawa type
- Neuropathy, hereditary motor and sensory, Russe type
- Neuropathy, hereditary sensory and autonomic, type V
- Neuropathy, hereditary sensory and autonomic, type VII
- Neuropathy, progressive sensory, of children
- Neurosensory nonsyndromic dominant deafness 1
- Neurosyphilis
- Neurotoxicity syndromes
- Neurovisceral storage disease with vertical supranuclear ophthalmoplegia
- Neutral 17 beta hydroxysteroid oxidoreductase deficiency
- Neutral lipid storage disease with ichthyotic
- Neutral lipid storage disease with myopathy
- Neutral lipid storage disease without ichthyosis
- Neutropenia chronic familial
- Neutropenia cyclic
- Neutropenia immunoglobulin deficiency peculiar facies and bony anomalies
- Neutropenia lethal congenital with eosinophilia
- Neutrophil lactoferrin deficiency
- Neutrophilic dermatosis, acute febrile
- Neutrophil-specific granule deficiency
- Nevi flammei, familial multiple
- Nevi of Ito
- Nevo syndrome
- Nevoid basal cell carcinoma syndrome
- Nevoid hypermelanosis, linear and whorled
- Nevus comedonicus
- Nevus comedonicus syndrome
- Nevus mucinosis
- Nevus of Ito
- Nevus sebaceus of Jadassohn
- New daily-persistent headache
- New onset refractory status epilepticus
- New variant of CJD
- New world trypanosomiasis- not a rare disease.
- New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum
- New-onset refractory status epilepticus
- Nezelof syndrome
- NF1
- NF1 microdeletion syndrome
- NF2
- NF3
- NF6
- NFD
- NFDR syndrome
- NFJ syndrome
- NFJS
- NF-kappa B Essential Modulator Deficiency
- NFNS
- NFTC
- NGLY1 deficiency
- NGPS
- Nguyen syndrome
- NH
- NHBP
- NHC
- NHD
- NICCD
- NICH
- NI-CINA- not a rare disease.
- Nicolaides-Baraitser syndrome
- 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
- Niemann-Pick disease, chronic neuronopathic form
- Niemann-Pick disease, subacute juvenile form
- Niemann-Pick disease, type C
- Nievergelt syndrome
- Night Blindness
- Night blindness-skeletal anomalies-dysmorphism syndrome
- Nightcliff gardener's disease
- Nigrospinodentatal degeneration
- NIID
- Niikawa-Kuroki syndrome
- Nijmegen breakage syndrome
- Nipah virus encephalitis
- NIS
- NISCH syndrome
- Njovera
- NK/T-cell lymphoma
- NK-cell malignancy
- NKS
- NKTCL
- N-Laurylsphingosine deacylase deficiency
- NLCA
- NLS
- NLSDI
- NLSDM
- NM
- NMAN
- NMO
- NMO spectrum disorder
- NMOsd
- NMSL
- NN
- Noack syndrome
- Noble Bass Sherman syndrome
- Nocardia infection
- Nocardiosis
- Nocturnal facio-mandibular myoclonus
- NOD
- Nodding disease
- Nodding syndrome
- Nodose hair
- Nodular erythema digital changes
- Nodular heterotopia bilateral periventricular
- Nodular melanoma
- Nodular nonsuppurative panniculitis
- Nodular primary adrenocortical dysplasia
- Nodular prurigo
- Nodular regenerative hyperplasia
- Nodular regenerative hyperplasia of the liver
- Nodulosis-Arthropathy-Osteolysis Syndrome,
- Noma
- Noma neonatorum
- NOMID
- Non 24 hour sleep wake disorder
- Non AIDS related Kaposi sarcoma
- Non classic congenital adrenal hyperplasia- not a rare disease.
- Non erupted teeth with maxillary hypoplasia and genu valgum
- Non functioning pancreatic endocrine tumor
- Non ketotic hyperglycinemia syndrome
- Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome
- Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
- Non-acquired isolated growth hormone deficiency
- Non-acquired isolated growth hormone deficiency
- Non-A-E hepatitis
- Nonaka myopathy
- Non-alcoholic fatty liver disease- not a rare disease.
- Nonalcoholic steatohepatitis- not a rare disease.
- Non-alcoholic steatohepatitis- not a rare disease.
- Non-amyloid fibrillary glomerulonephritis
- Non-amyloid fibrillary glomerulopathy
- Nonautoimmune hyperthyroidism
- Nonbullous congenital ichthyosiform erythroderma
- Non-bullous congenital ichthyosiform erythroderma
- Non-cardiogenic pulmonary edema
- Non-cirrhotic nodular transformation
- Non-cirrhotic nodulation
- Non-cirrhotic portal hypertension
- Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency- not a rare disease.
- Non-deforming osteogenesis imperfecta
- Non-distal tetrasomy 15q
- Nondystrophic myotonia
- Non-dystrophic myotonic disorders
- Non-epileptic attack disorder (NEAD)
- Non-fluent primary progressive aphasia
- Non-fluent variant PPA
- Non-functioning endocrine pancreatic tumors
- Non-functioning EPTs
- Non-Herlitz JEB
- Non-Hodgkins gastric Lymphoma
- Nonimmune chronic idiopathic neutropenia of adults- not a rare disease.
- Noninflammatory corneal thining
- Noninvoluting congenital hemangioma
- Non-involuting congenital hemangioma
- Nonketotic hyperglycinemia
- Non-ketotic hyperglycinemia
- Non-Langerhans-Cell Histiocytosis
- Non-lissencephalic cortical dysplasia
- Nonmedullary thyroid carcinoma, papillary
- Nonmedullary thyroid carcinoma, with or without cell oxyphilia
- Nonmucinous adenocarcinoma
- Nonne’s syndrome
- Nonne-Milroy disease
- Nonne-Milroy lymphedema
- Nonne-Milroy syndrome
- Non-opposable triphalangeal thumb
- Non-phenylketonuric hyperphenylalaninemia
- Nonpuerperal galactorrhe amenorrhea
- Non-Rhabdomyosarcoma soft tissue sarcoma
- Nonseminomatous germ cell tumor
- Non-seminomatous germ-cell tumors
- Nonspecific inflammation of the cavernous sinus or superior orbital fissure
- Nonspecific mental retardation associated with retinitis pigmentosa
- Nonspherocytic hemolytic anemia due to hexokinase deficiency
- Nonsyndromal microcephaly
- Nonsyndromal microcephaly autosomal recessive with normal intelligence
- Non-syndromic biliary atresia
- Nonsyndromic congenital nail disorder, 4
- Nonsyndromic hereditary deafness DFNA17
- Nonsyndromic hereditary sensorineural hearing loss
- Nonsyndromic microcephaly
- Non-syndromic polydactyly
- Non-syndromic syndactyly- not a rare disease.
- Non-telomeric tetrasomy 15q
- Nontropical sprue- not a rare disease.
- Nontuberculous mycobacterial lung disease
- Non-tuberculous mycobacterial lung disease
- Nonvenereal syphilis
- Noonan like contracture myopathy hyperpyrexia
- Noonan neurofibromatosis syndrome
- Noonan syndrome
- Noonan syndrome 1
- Noonan syndrome 2
- Noonan syndrome 3
- Noonan syndrome 4
- Noonan syndrome 5
- Noonan syndrome 6
- Noonan syndrome autosomal recessive
- Noonan syndrome with multiple lentigines
- Noonan-Ehmke syndrome
- Noonan-like syndrome with loose anagen hair
- Nora lesion
- Nora’s Lesion
- Noradrenaline deficiency
- Norepinephrine deficiency
- Norman Roberts lissencephaly syndrome
- Normophosphatemic familial tumoral calcinosis
- Norrie disease
- Norrie syndrome
- Norrie-Warburg syndrome
- NORSE
- North American blastomycosis
- North Carolina macular dystrophy
- North Sea progressive myoclonus epilepsy
- Northern epilepsy
- Norum disease
- Norwegian infantile onset ataxia
- Norwegian scabies
- Nose agenesia
- Nose, anomalous shape of
- Nose, median cleft of
- Nosocomial Kikuchi's disease
- Not otherwise specified 3-MGA-uria type
- Notalgia paresthetica- not a rare disease.
- NPC1
- NPC2
- NPDC syndrome
- NPHP3-related Meckel-like syndrome
- NPHS1
- NPS 1
- NRAS gene related Noonan syndrome
- NRDS
- NS2
- NS3
- NS4
- NS5
- NS6
- NSF
- NSGCT
- NSRD1
- NSX
- NTDs- not a rare disease.
- NTE related motor neuron disorder
- NTEMND
- NTIA
- Nuchal bleb, familial
- Nuchal lymphangioma
- Nuclear gene-encoded Leigh syndrome
- Numeric sex chromosome variations- not a rare disease.
- Nutcracker syndrome
- Nutritional cerebellar degeneration
- Nutritional rickets
- Nv-CJD
- NXG
- NYS1
- NYS2
- NYS3
- NYS4
- Nystagmus 1, congenital, X- linked
- Nystagmus 2, congenital, autosomal dominant
- Nystagmus 3, congenital, autosomal dominant
- Nystagmus 4, congenital, autosomal dominant
- Nystagmus congenital, motor 2
- Nystagmus, congenital motor, 1
- Nystagmus, congenital motor, autosomal recessive
- Nystagmus, hereditary vertical
- Nystagmus, myoclonic
- Nystagmus-associated episodic ataxia
NIH genetic and rare disease info[edit source]
List of rare diseases-N is a rare disease.
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