List of rare diseases-N

NIH genetic and rare disease info

• NIH info on List of rare diseases-N

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

• NIH info on List of rare diseases-N

List of rare diseases-N is a rare disease.