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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Diseases Beginning With N

The purpose of the Rare Diseases and Related Terms list is to distribute information; although the list is updated regularly, it should not be used as a reference or guarantee that a condition is rare. The prevalence of a rare disease is usually an estimate and may change over time. A rare (or orphan) disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States.

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.

Is Rare Condition? Disease Name
* N acetyltransferase 1 deficiency - See N acetyltransferase deficiency
* N acetyltransferase deficiency
* N syndrome
* N5-methylhomocysteine transferase deficiency - See Arakawa's syndrome 2
* Nablus mask-like facial syndrome
* N-acetyl glutamate synthetase deficiency - See N-acetylglutamate synthetase 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-acetylglucosamine 1phosphotransferase deficiency - See I cell disease
* N-acetylglucosamine-6-sulfate sulfatase deficiency - See Mucopolysaccharidosis type IIID
* N-acetylglutamate synthetase deficiency
* N-Acetylneuraminic acid storage disease - 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 Cowchock syndrome
* Naegeli syndrome
* Naegeli-Franceschetti-Jadassohn syndrome - See Naegeli syndrome
* NAG synthetase deficiency - See N-acetylglutamate synthetase 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 synthetase deficiency
* Naguib syndrome - See Naguib-Richieri-Costa syndrome
* Naguib-Richieri-Costa syndrome
* 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
* NAME syndrome - See Carney complex
* NAMSD - See Cowchock syndrome
* NANA storage disease - 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-mental retardation syndrome - See Acrodysostosis
* Nasal polyposis, familial
*   NASH - See Nonalcoholic steatohepatitis
* 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
* NCCAH - See Late-onset congenital adrenal hyperplasia
* NCIE - See Nonbullous congenital ichthyosiform erythroderma
* NCMD - See North Carolina macular dystrophy
* 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
* Necrobiotic xanthogranuloma
* Necrotizing encephalopathy infantile subacute of Leigh - See Leigh syndrome
* Necrotizing enterocolitis
* Necrotizing fasciitis
* Negative rheumatoid factor polyarthritis
* Neisseria meningitidis infection
* Nelson syndrome
* NEM1 - See Nemaline myopathy 1
* NEM2 - See Nemaline myopathy 2
* NEM3 - See Nemaline myopathy 3
* NEM4 - See Nemaline myopathy 4
* NEM5 - See Nemaline myopathy 5
* NEM6 - See Nemaline myopathy 6
* Nemaline body disease - See Nemaline myopathy
* Nemaline myopathy
* Nemaline myopathy 1
* Nemaline myopathy 2
* Nemaline myopathy 3
* Nemaline myopathy 4
* Nemaline myopathy 5
* Nemaline myopathy 6
* Nemaline myopathy caused by mutation in the alpha-actin gene - See Nemaline myopathy 3
* Nemaline myopathy caused by mutation in the nebulin gene - See Nemaline myopathy 2
* Nemaline myopathy caused by mutation in the tropomyosin 2 gene - See Nemaline myopathy 4
* Nemaline myopathy caused by mutation in the tropomyosin 3 gene - See Nemaline myopathy 1
* Nemaline Myopathy, Amish Type - See Nemaline myopathy 5
* Nemaline myopathy, caused by mutation in the troponin t1 gene - See Nemaline myopathy 5
* Nemaline rod disease - See Nemaline myopathy
* Nemaline rod myopathy - See Nemaline myopathy
* Neonatal adrenoleukodystrophy
* Neonatal De Toni-Debre-Fanconi syndrome - See Toni-Debre-Fanconi syndrome
* 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 Ischemic Stroke - See Neonatal stroke
* Neonatal lupus - See Neonatal systemic lupus erythematosus
* Neonatal lupus syndrome - See Neonatal systemic lupus erythematosus
* Neonatal meningitis
* Neonatal Onset Multisystem Inflammatory Disease - See Chronic Infantile Neurological Cutaneous Articular syndrome
* 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 SLE - See Neonatal systemic lupus erythematosus
* Neonatal stroke
* Neonatal systemic lupus erythematosus
* Neonatally lethal short-limb skeletal dysplasia, glasgow type - See Thanatophoric dysplasia Glasgow variant
* 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 Berger disease
* Nephroblastoma - See Wilms' tumor
* Nephroblastomatosis fetal ascites macrosomia and wilms tumor - See Renal hamartomas nephroblastomatosis and fetal gigantism
* Nephrocalcinosis
* Nephrogenic diabetes insipidus
* Nephrogenic Fibrosing Dermopathy - See Nephrogenic Systemic Fibrosis
* Nephrogenic Systemic Fibrosis
* Nephrolithiasis 2 - See Dent disease 1
* Nephrolithiasis, hypercalciuria x-linked - See Dent disease 1
* Nephronophthisis 1
* Nephronophthisis familial adult spastic quadriparesis
* Nephronophthisis familial juvenile - See Nephronophthisis 1
* 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, familial, with gout - See Familial juvenile hyperuricaemic nephropathy
* 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 Microcephaly, hiatal hernia and nephrotic 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 sheath neoplasm
* Nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy - See Groll Hirschowitz syndrome
* Nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor - See Mahvash disease
* Nesidioblastosis of pancreas - See Familial 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 mental retardation syndrome
* Neural crest tumor
* Neural crest-derived tumors - See Neural crest tumor
*   Neural tube defects
* Neuralgic amyotrophy - See Parsonage Turner syndrome
* 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
* Neurilemmomatosis congenital cutaneous - See Schwannomatosis
* Neurilemoma - See Schwannoma
* Neurinoma - 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, infantile
* 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 cerebral folate transport deficiency - See Cerebral folate deficiency
* Neurodegeneration with brain iron accumulation
* Neurodegeneration with brain iron accumulation - See Pantothenate kinase-associated neurodegeneration
* Neuroectodermal endocrine syndrome
* Neuroectodermal tumors primitive - See Embryonal tumor with multilayered rosettes
* Neuroendocrine carcinoma of the cervix
* 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 2
* Neurofibromatosis type 3A
* Neurofibromatosis type 3B
* Neurofibromatosis type 4
* Neurofibromatosis type 4 of Riccardi - See Neurofibromatosis type 4
* Neurofibromatosis type 5
* Neurofibromatosis type 6
* Neurofibromatosis type II - See Neurofibromatosis type 2
* Neurofibromatosis type V - See Neurofibromatosis type 5
* Neurofibromatosis with Noonan phenotype - See Neurofibromatosis-Noonan syndrome
* Neurofibromatosis, atypical - See Neurofibromatosis type 4
* Neurofibromatosis, familial intestinal - See Neurofibromatosis type 3B
* Neurofibromatosis, Type 3, mixed central and peripheral - See Neurofibromatosis type 3A
* Neurofibromatosis, Type 3, Riccardi type - See Neurofibromatosis type 3A
* Neurofibromatosis-Noonan syndrome
* Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome
* Neurofibrosarcoma
* Neurogenic acroosteolysis - See Hereditary sensory and autonomic neuropathy type 2
* Neurogenic diabetes insipidus
* Neurogenic hypertension
* Neurogenic type of AMC - See Arthrogryposis multiplex congenita neurogenic type
* Neurohypophyseal diabetes insipidus - See Neurogenic diabetes insipidus
* Neuroleptic malignant syndrome
* Neurolymphomatosis - See Marek disease
* Neuroma biliary tract
* Neuromyelitis optica - See Devic disease
* Neuromyelitis optica spectrum disorder
* Neuromyotonia - See Isaac's syndrome
* Neuronal ceroid lipofuscinoses
* Neuronal ceroid lipofuscinosis 1 - See Ceroid lipofuscinosis neuronal 1
* Neuronal ceroid lipofuscinosis 10 - See Ceroid lipofuscinosis neuronal 10
* Neuronal ceroid lipofuscinosis 2 - See Ceroid lipofuscinosis neuronal 2
* Neuronal ceroid lipofuscinosis 3 - See Batten disease
* Neuronal ceroid lipofuscinosis 4 - See Adult neuronal ceroid lipofuscinosis
* Neuronal ceroid lipofuscinosis 4B - See Autosomal dominant neuronal ceroid lipofuscinosis 4B
* Neuronal ceroid lipofuscinosis 5 - See Ceroid lipofuscinosis neuronal 5
* Neuronal ceroid lipofuscinosis 6 - See Ceroid lipofuscinosis neuronal 6
* Neuronal ceroid lipofuscinosis 7 - See Ceroid lipofuscinosis neuronal 7
* Neuronal ceroid lipofuscinosis 8 - See Northern Epilepsy
* Neuronal ceroid lipofuscinosis 9 - See Ceroid lipofuscinosis neuronal 9
* Neuronal ceroid lipofuscinosis due to Cathepsin D deficiency - See Ceroid lipofuscinosis neuronal 10
* Neuronal ceroid lipofuscinosis Finnish variant - See Ceroid lipofuscinosis neuronal 5
* Neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant - See Ceroid lipofuscinosis neuronal 6
* 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 Cowchock syndrome
* Neuropathy, congenital hypomyelinating - See Charcot-Marie-Tooth disease type 4E
* 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
* Neuropathy, hereditary motor and sensory, Okinawa type
* Neuropathy, hereditary motor and sensory, Russe type
* 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
* Nevoid basal cell carcinoma syndrome
* Nevoid hypermelanosis, linear and whorled - See Linear and whorled nevoid hypermelanosis
* Nevus mucinosis
* Nevus of Ito
* Nevus sebaceus of Jadassohn - See Linear nevus sebaceous syndrome
* New daily-persistent headache
* New variant of CJD - See Variant Creutzfeldt-Jakob disease
*   New world trypanosomiasis - See Chagas disease
* New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum - See Proud Levine Carpenter syndrome
* New-onset refractory status epilepticus - See Febrile infection-related epilepsy syndrome
* Nezelof syndrome - See Immune defect due to absence of thymus
* NF 3A - See Neurofibromatosis type 3A
* NF 3B - See Neurofibromatosis type 3B
* NF1 - See Neurofibromatosis type 1
* NF2 - See Neurofibromatosis type 2
* NF5 - See Neurofibromatosis type 5
* NF6 - See Neurofibromatosis type 6
* NFD - See Nephrogenic Systemic Fibrosis
* NFDR syndrome - See Neurofaciodigitorenal syndrome
* NFJ syndrome - See Naegeli syndrome
* NFJS - See Naegeli syndrome
* NFNS - See Neurofibromatosis-Noonan syndrome
* NFTC - See Normophosphatemic familial tumoral calcinosis
* 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
* Nicolaides Baraitser syndrome
* Niemann Pick disease type B - See Niemann-Pick disease type B
* Niemann-Pick disease
* Niemann-Pick disease type B
* Niemann-Pick disease type C1
* Niemann-Pick disease type C2
* Niemann-Pick disease type D
* Niemann-Pick disease with cholesterol esterification block - See Niemann-Pick disease type C1
* Niemann-pick disease without sphingomyelinase deficiency - See Niemann-Pick disease type D
* Niemann-Pick disease, chronic neuronopathic form - See Niemann-Pick disease type C1
* Niemann-Pick disease, Nova Scotian type - See Niemann-Pick disease type D
* 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 unusual facies
* 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-cell malignancy - See Polymorphic reticulosis
* NKS - See Kabuki syndrome
* NL/MGCLS - See Noonan-like/multiple giant cell lesion syndrome
* 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
* NMO - See Devic disease
* NMOsd - See Neuromyelitis optica spectrum disorder
* NMSL - See Neuropathy, hereditary motor and sensory, LOM type
* NN - See MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
* NOA syndrome - See Torg Winchester 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 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 Chronic Infantile Neurological Cutaneous Articular syndrome
* Non 24 hour sleep wake disorder
* Non AIDS related Kaposi sarcoma - See Classic Kaposi sarcoma
* Non classic congenital adrenal hyperplasia - See Late-onset congenital adrenal hyperplasia
* 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-A-E hepatitis
* Nonaka myopathy - See Inclusion body myopathy 2
*   Non-alcoholic fatty liver disease - See Nonalcoholic steatohepatitis
*   Nonalcoholic steatohepatitis
*   Non-alcoholic steatohepatitis - See Nonalcoholic steatohepatitis
* Nonautoimmune hyperthyroidism - See Familial hyperthyroidism due to mutations in TSH receptor
* 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-distal tetrasomy 15q - See Isodicentric chromosome 15 syndrome
* Nondystrophic myotonia
* Non-dystrophic myotonic disorders
* 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
* Noninflammatory corneal thining - See Keratoconus
* Noninvoluting congenital hemangioma - See Non-involuting congenital hemangioma
* Non-involuting congenital hemangioma
* Nonketotic hyperglycinemia - See Glycine encephalopathy
* Nonkinesigenic choreoathetosis - See Dystonia 8
* Non-Langerhans cell histiocytosis - See Histiocytosis, Non-Langerhans-Cell
* 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 syndrome - See Milroy disease
* Non-opposable triphalangeal thumb - See Triphalangeal thumb non opposable
* Non-phenylketonuric hyperphenylalaninemia - See Tetrahydrobiopterin deficiency
* Nonphotosensitive trichothiodystrophy - See Trichothiodystrophy nonphotosensitive
* Nonpuerperal galactorrhe amenorrhea - See Ahumada Del Castillo syndrome
* Nonpuerperal galactorrhea - See Forbes Albright 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
* Nonsyndromic hereditary deafness DFNA17 - See Deafness, autosomal dominant nonsyndromic sensorineural 17
* Nonsyndromic hereditary sensorineural hearing loss
* Nonsyndromic microcephaly - See Microcephaly nonsyndromal
* Non-telomeric tetrasomy 15q - See Isodicentric chromosome 15 syndrome
*   Nontropical sprue - See Celiac 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
* Noonan syndrome 2
* Noonan syndrome 3
* Noonan syndrome 4
* Noonan syndrome 5
* Noonan syndrome 6
* Noonan syndrome autosomal recessive - See Noonan syndrome 2
* Noonan-Ehmke syndrome - See Noonan syndrome
* Noonan-like syndrome with loose anagen hair
* Noonan-like/multiple giant cell lesion syndrome
* 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 Febrile infection-related epilepsy syndrome
* North American blastomycosis - See Blastomycosis
* North Carolina macular dystrophy
* Northern Epilepsy
* Norum disease
* 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
*   Notalgia paresthetica
* Nova Scotia (type D) form of Niemann-Pick disease - See Niemann-Pick disease type D
* Nova Scotia Niemann-Pick disease (type D) - See Niemann-Pick disease type D
* Nova syndrome
* Novak syndrome
* NPC1 - See Niemann-Pick disease type C1
* NPC2 - See Niemann-Pick disease type C2
* NPDC syndrome - See Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome
* NPH1 - See Nephronophthisis 1
* NPHL2 - See Dent disease 1
* NPHP1 - See Nephronophthisis 1
* NPHS1 - See Congenital nephrotic syndrome Finnish type
* NPS 1 - See Nail patella syndrome
* NRAS gene related Noonan syndrome - See Noonan syndrome 6
* NRDS - See Respiratory distress syndrome, infant
* NS1 - See Noonan syndrome 1
* NS2 - See Noonan syndrome 2
* NS3 - See Noonan syndrome 3
* NS4 - See Noonan syndrome 4
* NS5 - See Noonan syndrome 5
* NS6 - See Noonan syndrome 6
* 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
* NTE related motor neuron disorder - See Spastic paraplegia 39
* NTEMND - See Spastic paraplegia 39
* NTIA - See Aganglionosis, total intestinal
* Nuchal bleb, familial
*   Numeric sex chromosome variations
*   Nutcracker syndrome - See Renal nutcracker syndrome
* 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