N | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

• 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 3 - See N-acetyl-alpha-D-galactosaminidase deficiency type III
• 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
• 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 - See Congenital 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
• 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 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 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 syndrome - See Megalocornea-intellectual disability syndrome
• Neuhauser-Eichner-Opitz syndrome - See Encephalopathy recurrent of childhood
• Neu-Laxova syndrome - See Neu Laxova 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 Multiple 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, 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
• 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 Multiple 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
• 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 Multicentric osteolysis, nodulosis and arthropathy
• 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 combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome - See Pituitary hormone deficiency, combined 3
• Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome - SeePituitary hormone deficiency, combined 3
• 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-Herlitz JEB - See Epidermolysis bullosa
• Non-Hodgkin lymphoma, during pregnancy
• Non-Hodgkins gastric Lymphoma - See Gastric Non-Hodgkin Lymphoma
• 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
• Non-Rhabdomyosarcoma soft tissue sarcoma - See Soft tissue sarcoma
• 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
• 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
• 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
• Nuchal lymphangioma - See Hygroma cervical
• 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, myoclonic
• Nystagmus-associated episodic ataxia - See Episodic ataxia with nystagmus