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

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





Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.



N 2/2

• Neuroepithelial cysts of third ventricle - See Colloid cysts of third ventricle
• Neuroepithelioma
• Neurofaciodigitorenal syndrome
• Neuroferritinopathy
• Neurofibroma
• Neurofibromatosis
• Neurofibromatosis central type - See Neurofibromatosis type 2
• Neurofibromatosis type 1
• Neurofibromatosis type 1 like syndrome - See Legius syndrome
• Neurofibromatosis type 1 microdeletion syndrome - See Chromosome 17q11.2 deletion syndrome
• Neurofibromatosis type 2
• Neurofibromatosis type 3 - See Schwannomatosis
• Neurofibromatosis type 6 - See Autosomal dominant café au lait spots
• Neurofibromatosis type II - See Neurofibromatosis type 2
• Neurofibromatosis with Noonan phenotype - See Neurofibromatosis-Noonan syndrome
• Neurofibromatosis-Noonan syndrome
• Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome - See Duodenal carcinoid syndrome
• Neurofibrosarcoma - See Malignant peripheral nerve sheath tumor
• Neurofibrosarcoma
• Neurogenic acroosteolysis - See Hereditary sensory and autonomic neuropathy type 2
• Neurogenic diabetes insipidus - See Central diabetes insipidus
• Neurogenic hypertension
• Neurogenic Orthostatic Hypotension - See Primary orthostatic hypotension
• Neurogenic sarcoma - See Malignant peripheral nerve sheath tumor
• Neurogenic type of AMC - See Arthrogryposis multiplex congenita neurogenic type
• Neurohypophyseal diabetes insipidus - See Central diabetes insipidus
• Neurolemmoma - See Schwannoma
• Neuroleptic malignant syndrome
• Neurolymphomatosis - See Marek disease
• Neuroma biliary tract
• Neuromyelitis optica
• Neuromyelitis optica spectrum disorder
• Neuromyotonia - See Isaacs' syndrome
• Neuronal ceroid lipofuscinosis
• Neuronal ceroid lipofuscinosis 1 - See Ceroid lipofuscinosis neuronal 1
• Neuronal ceroid lipofuscinosis 10
• Neuronal ceroid lipofuscinosis 2
• Neuronal ceroid lipofuscinosis 3
• Neuronal ceroid lipofuscinosis 4 - See Adult neuronal ceroid lipofuscinosis
• Neuronal ceroid lipofuscinosis 4B - See Autosomal dominant neuronal ceroid lipofuscinosis 4B
• Neuronal ceroid lipofuscinosis 5
• Neuronal ceroid lipofuscinosis 6
• Neuronal ceroid lipofuscinosis 7
• Neuronal ceroid lipofuscinosis 8 - See Northern epilepsy
• Neuronal ceroid lipofuscinosis 9
• Neuronal ceroid lipofuscinosis due to Cathepsin D deficiency - See Neuronal ceroid lipofuscinosis 10
• Neuronal ceroid lipofuscinosis Finnish variant - See Neuronal ceroid lipofuscinosis 5
• Neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant - See Neuronal ceroid lipofuscinosis 6
• Neuronal ceroid lipofuscinosis, Northern epilepsy variant - See Northern epilepsy
• Neuronal degeneration of childhood with liver disease, progressive - See Alpers syndrome
• Neuronal interstitial dysplasia
• Neuronal intranuclear hyaline inclusion disease - See Neuronal intranuclear inclusion disease
• Neuronal intranuclear inclusion disease
• Neuronopathy, distal hereditary motor, type VI - See Spinal muscular atrophy with respiratory distress 1
• Neuronopathy, severe infantile axonal, with respiratory failure - See Spinal muscular atrophy with respiratory distress 1
• Neuropathy amyloid - See Amyloid neuropathy
• Neuropathy ataxia retinitis pigmentosa syndrome
• Neuropathy hereditary sensory and autonomic type 1 - See Hereditary sensory neuropathy type 1
• Neuropathy hereditary sensory radicular, autosomal dominant - See Hereditary sensory neuropathy type 1
• Neuropathy of the posterior tibial nerve and its branches - See Tarsal tunnel syndrome
• Neuropathy sensory spastic paraplegia
• Neuropathy, axonal motor-sensory with deafness and mental retardation - See Charcot-Marie-Tooth disease
• Neuropathy, congenital hypomyelinating - See Charcot-Marie-Tooth disease
• Neuropathy, congenital sensory - See Hereditary sensory and autonomic neuropathy type 2
• Neuropathy, congenital sensory, with anhidrosis - See Congenital insensitivity to pain with anhidrosis
• Neuropathy, congenital, with arthrogryposis multiplex
• Neuropathy, distal hereditary motor, Jerash type
• Neuropathy, giant axonal - See Giant axonal neuropathy
• NEUROPATHY, HEREDITARY MOTOR AND SENSORY, LOM TYPE - See Charcot-Marie-Tooth disease
• Neuropathy, hereditary motor and sensory, Okinawa type
• Neuropathy, hereditary motor and sensory, Russe type
• Neuropathy, hereditary sensory and autonomic, type V - See Hereditary sensory and autonomic neuropathy type V
• Neuropathy, hereditary sensory and autonomic, type VII - See Hereditary sensory and autonomic neuropathy type 7
• Neuropathy, progressive sensory, of children - See Hereditary sensory and autonomic neuropathy type 2
• Neurosensory nonsyndromic dominant deafness 1 - See Deafness, autosomal dominant nonsyndromic sensorineural 3
• Neurosyphilis
• Neurotoxicity syndromes
• Neurovisceral storage disease with vertical supranuclear ophthalmoplegia - See Niemann-Pick disease type C1
• Neutral 17 beta hydroxysteroid oxidoreductase deficiency - See 17-beta hydroxysteroid dehydrogenase 3 deficiency
• Neutral lipid storage disease with ichthyotic - See Chanarin-Dorfman syndrome
• Neutral lipid storage disease with myopathy
• Neutral lipid storage disease without ichthyosis - See Neutral lipid storage disease with myopathy
• Neutropenia chronic familial
• Neutropenia cyclic - See Cyclic neutropenia
• Neutropenia immunoglobulin deficiency peculiar facies and bony anomalies - See Lichtenstein syndrome
• Neutropenia lethal congenital with eosinophilia
• Neutropenia monocytopenia deafness
• Neutrophil lactoferrin deficiency - See Neutrophil-specific granule deficiency
• Neutrophilic dermatosis, acute febrile - See Acute febrile neutrophilic dermatosis
• Neutrophil-specific granule deficiency
• Nevi flammei, familial multiple
• Nevi of Ito - See Nevus of Ito
• Nevo syndrome - See Kyphoscoliotic Ehlers-Danlos syndrome
• Nevoid basal cell carcinoma syndrome
• Nevoid hypermelanosis, linear and whorled - See Linear and whorled nevoid hypermelanosis
• Nevus comedonicus
• Nevus comedonicus syndrome
• Nevus mucinosis
• Nevus of Ito
• Nevus sebaceus of Jadassohn - See Linear nevus sebaceous syndrome
• New daily-persistent headache
• New onset refractory status epilepticus - See New-onset refractory status epilepticus
• New variant of CJD - See Variant Creutzfeldt-Jakob disease
• New world trypanosomiasis - See Chagas disease - not a rare disease
• New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum - See Proud syndrome
• New-onset refractory status epilepticus
• Nezelof syndrome - See Immune defect due to absence of thymus
• NF1 - See Neurofibromatosis type 1
• NF1 microdeletion syndrome - See Chromosome 17q11.2 deletion syndrome
• NF2 - See Neurofibromatosis type 2
• NF3 - See Schwannomatosis
• NF6 - See Autosomal dominant café au lait spots
• NFD - See Nephrogenic Systemic Fibrosis
• NFDR syndrome - See Neurofaciodigitorenal syndrome
• NFJ syndrome - See Naegeli syndrome
• NFJS - See Naegeli syndrome
• NF-kappa B Essential Modulator Deficiency
• NFNS - See Neurofibromatosis-Noonan syndrome
• NFTC - See Normophosphatemic familial tumoral calcinosis
• NGLY1 deficiency - See Deficiency of N-glycanase 1
• NGPS - See Nestor-guillermo progeria syndrome
• Nguyen syndrome
• NH - See Neonatal hemochromatosis
• NHBP - See X-linked periventricular heterotopia
• NHC - See Neonatal hemochromatosis
• NHD - See Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• NICCD - See Neonatal intrahepatic cholestasis caused by citrin deficiency
• NICH - See Non-involuting congenital hemangioma
• NI-CINA - See Idiopathic neutropenia - not a rare disease
• Nicolaides-Baraitser syndrome
• Niemann Pick disease type B - See Niemann-Pick disease type B
• Niemann-Pick disease
• Niemann-Pick disease type A
• Niemann-Pick disease type B
• Niemann-Pick disease type C1
• Niemann-Pick disease type C2
• Niemann-Pick disease with cholesterol esterification block - See Niemann-Pick disease type C1
• Niemann-Pick disease, chronic neuronopathic form - See Niemann-Pick disease type C1
• Niemann-Pick disease, subacute juvenile form - See Niemann-Pick disease type C1
• Niemann-Pick disease, type C - See Niemann-Pick disease type C1
• Nievergelt syndrome
• Night Blindness - See Keratomalacia
• Night blindness-skeletal anomalies-dysmorphism syndrome
• Nightcliff gardener's disease - See Melioidosis
• Nigrospinodentatal degeneration - See Spinocerebellar ataxia 3
• NIID - See Neuronal intranuclear inclusion disease
• Niikawa-Kuroki syndrome - See Kabuki syndrome
• Nijmegen breakage syndrome
• Nipah virus encephalitis
• NIS - See Neonatal stroke
• NISCH syndrome - See Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
• Njovera - See Bejel
• NK/T-cell lymphoma - See Extranodal nasal NK/T cell lymphoma
• NK-cell malignancy - See Polymorphic reticulosis
• NKS - See Kabuki syndrome
• NKTCL - See Extranodal nasal NK/T cell lymphoma
• N-Laurylsphingosine deacylase deficiency - See Farber's disease
• NLCA - See Amyloidosis nodular localized cutaneous
• NLS - See Neu Laxova syndrome
• NLSDI - See Chanarin-Dorfman syndrome
• NLSDM - See Neutral lipid storage disease with myopathy
• NM - See Nemaline myopathy
• NMAN - See Autosomal recessive axonal neuropathy with neuromyotonia
• NMO - See Neuromyelitis optica
• NMO spectrum disorder - See Neuromyelitis optica
• NMOsd - See Neuromyelitis optica spectrum disorder
• NMSL - See Charcot-Marie-Tooth disease
• NN - See MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• NOA syndrome - See Torg Winchester syndrome
• Noack syndrome - See Pfeiffer syndrome
• Noble Bass Sherman syndrome
• Nocardia infection - See Nocardiosis
• Nocardiosis
• Nocturnal facio-mandibular myoclonus - See Faciomandibular myoclonus, nocturnal
• NOD - See Dentatorubral-pallidoluysian atrophy
• Nodding disease - See Nodding syndrome
• Nodding syndrome
• Nodose hair - See Monilethrix
• Nodular erythema digital changes - See Nakajo syndrome
• Nodular heterotopia bilateral periventricular - See X-linked periventricular heterotopia
• Nodular melanoma
• Nodular nonsuppurative panniculitis
• Nodular primary adrenocortical dysplasia - See Cushing's syndrome
• Nodular prurigo - See Prurigo nodularis
• Nodular regenerative hyperplasia
• Nodular regenerative hyperplasia of the liver - See Nodular regenerative hyperplasia
• Nodulosis arthropathy osteolysis syndrome - See Torg Winchester syndrome
• Noma
• Noma neonatorum - See Noma
• NOMID - See Neonatal Onset Multisystem Inflammatory disease
• Non 24 hour sleep wake disorder
• Non AIDS related Kaposi sarcoma - See Kaposi sarcoma
• Non classic congenital adrenal hyperplasia - See Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - not a rare disease
• Non erupted teeth with maxillary hypoplasia and genu valgum - See Stoelinga de Koomen Davis syndrome
• Non functioning pancreatic endocrine tumor
• Non ketotic hyperglycinemia syndrome - See D-glycericacidemia
• Non-acquired isolated growth hormone deficiency - See Isolated growth hormone deficiency type 1A
• Non-acquired isolated growth hormone deficiency - See Isolated growth hormone deficiency
• Non-A-E hepatitis
• Nonaka myopathy - See Inclusion body myopathy 2
• Non-alcoholic fatty liver disease - See Nonalcoholic steatohepatitis - not a rare disease
• Nonalcoholic steatohepatitis - not a rare disease
• Non-alcoholic steatohepatitis - See Nonalcoholic steatohepatitis - not a rare disease
• Non-amyloid fibrillary glomerulonephritis - See Fibrillary glomerulonephritis
• Non-amyloid fibrillary glomerulopathy - See Fibrillary glomerulonephritis
• Nonautoimmune hyperthyroidism - See Familial hyperthyroidism due to mutations in TSH receptor
• Nonbullous congenital ichthyosiform erythroderma
• Non-bullous congenital ichthyosiform erythroderma - See Nonbullous congenital ichthyosiform erythroderma
• Non-cardiogenic pulmonary edema - See Acute respiratory distress syndrome
• Non-cirrhotic nodular transformation - See Nodular regenerative hyperplasia
• Non-cirrhotic nodulation - See Nodular regenerative hyperplasia
• Non-cirrhotic portal hypertension - See Nodular regenerative hyperplasia
• Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - not a rare disease
• Non-deforming osteogenesis imperfecta - See Osteogenesis imperfecta type I
• Non-distal tetrasomy 15q - See Isodicentric chromosome 15 syndrome
• Nondystrophic myotonia
• Non-dystrophic myotonic disorders
• Non-epileptic attack disorder (NEAD) - See Dissociative seizures
• Non-fluent primary progressive aphasia - See Progressive non-fluent aphasia
• Non-fluent variant PPA - See Progressive non-fluent aphasia
• Non-functioning endocrine pancreatic tumors - See Non functioning pancreatic endocrine tumor
• Non-functioning EPTs - See Non functioning pancreatic endocrine tumor
• Non-Hodgkin lymphoma, childhood
• Non-Hodgkin lymphoma, during pregnancy
• Non-Hodgkins gastric Lymphoma - See Lymphoma, gastric non Hodgkins type
• Nonimmune chronic idiopathic neutropenia of adults - See Idiopathic neutropenia - not a rare disease
• Noninflammatory corneal thining - See Keratoconus
• Noninvoluting congenital hemangioma - See Non-involuting congenital hemangioma
• Non-involuting congenital hemangioma
• Nonketotic hyperglycinemia - See Glycine encephalopathy
• Non-ketotic hyperglycinemia - See Glycine encephalopathy
• Non-Langerhans-Cell Histiocytosis
• Non-lissencephalic cortical dysplasia
• Nonmedullary thyroid carcinoma, papillary - See Papillary thyroid carcinoma
• Nonmedullary thyroid carcinoma, with or without cell oxyphilia
• Nonmucinous adenocarcinoma - See Adenocarcinoma of the appendix
• Nonne’s syndrome - See Milroy disease
• Nonne-Milroy disease - See Milroy disease
• Nonne-Milroy lymphedema - See Milroy disease
• Nonne-Milroy syndrome - See Milroy disease
• Non-opposable triphalangeal thumb - See Triphalangeal thumb non opposable
• Non-phenylketonuric hyperphenylalaninemia - See Tetrahydrobiopterin deficiency
• Nonpuerperal galactorrhe amenorrhea - See Ahumada Del Castillo syndrome
• Nonseminomatous germ cell tumor
• Non-seminomatous germ-cell tumors - See Nonseminomatous germ cell tumor
• Non-small cell lung cancer, childhood
• Nonspecific inflammation of the cavernous sinus or superior orbital fissure - See Tolosa Hunt syndrome
• Nonspecific mental retardation associated with retinitis pigmentosa - See Aldred syndrome
• Nonspherocytic hemolytic anemia due to hexokinase deficiency
• Nonsyndromal microcephaly - See Microcephaly nonsyndromal
• Nonsyndromal microcephaly autosomal recessive with normal intelligence - See Nijmegen breakage syndrome
• Non-syndromic biliary atresia - See Biliary atresia
• Nonsyndromic congenital nail disorder, 4 - See Anonychia congenita
• Nonsyndromic hereditary deafness DFNA17 - See Deafness, autosomal dominant nonsyndromic sensorineural 17
• Nonsyndromic hereditary sensorineural hearing loss
• Nonsyndromic microcephaly - See Microcephaly nonsyndromal
• Non-syndromic polydactyly - See Polydactyly
• Non-syndromic syndactyly - See Syndactyly - not a rare disease
• Non-telomeric tetrasomy 15q - See Isodicentric chromosome 15 syndrome
• Nontropical sprue - See Celiac disease - not a rare disease
• Nontuberculous mycobacterial lung disease
• Non-tuberculous mycobacterial lung disease - See Nontuberculous mycobacterial lung disease
• Nonvenereal syphilis - See Bejel
• Noonan like contracture myopathy hyperpyrexia - See Kousseff Nichols syndrome
• Noonan neurofibromatosis syndrome - See Neurofibromatosis-Noonan syndrome
• Noonan syndrome
• Noonan syndrome 1 - See Noonan syndrome
• Noonan syndrome 2 - See Noonan syndrome
• Noonan syndrome 3 - See Noonan syndrome
• Noonan syndrome 4 - See Noonan syndrome
• Noonan syndrome 5 - See Noonan syndrome
• Noonan syndrome 6 - See Noonan syndrome
• Noonan syndrome autosomal recessive - See Noonan syndrome
• Noonan syndrome with multiple lentigines - See LEOPARD syndrome
• Noonan-Ehmke syndrome - See Noonan syndrome
• Noonan-like syndrome with loose anagen hair
• Nora lesion - See Bizzare parosteal osteochondromatous proliferation
• Nora’s Lesion - See Bizzare parosteal osteochondromatous proliferation
• Noradrenaline deficiency - See Dopamine beta hydroxylase deficiency
• Norepinephrine deficiency - See Dopamine beta hydroxylase deficiency
• Norman Roberts lissencephaly syndrome - See Lissencephaly 2
• Normokalemic periodic paralysis
• Normokalemic PP - See Normokalemic periodic paralysis
• NormoKPP - See Normokalemic periodic paralysis
• Normophosphatemic familial tumoral calcinosis
• Norrie disease
• Norrie syndrome - See Norrie disease
• Norrie-Warburg syndrome - See Norrie disease
• NORSE - See New-onset refractory status epilepticus
• North American blastomycosis - See Blastomycosis
• North Carolina macular dystrophy
• North Sea progressive myoclonus epilepsy - See GOSR2-related progressive myoclonus ataxia
• Northern epilepsy
• Norum disease - See Familial LCAT deficiency
• Norwegian infantile onset ataxia - See Spinocerebellar ataxia autosomal recessive 6
• Norwegian scabies - See Crusted scabies
• Nose agenesia - See Arrhinia
• Nose, anomalous shape of - See Potato nose
• Nose, median cleft of - See Bifid nose
• Nosocomial Kikuchi's disease - See Kikuchi disease
• Not otherwise specified 3-MGA-uria type
• Notalgia paresthetica - not a rare disease
• Novak syndrome
• NPC1 - See Niemann-Pick disease type C1
• NPC2 - See Niemann-Pick disease type C2
• NPDC syndrome - See Duodenal carcinoid syndrome
• NPHP3-related Meckel-like syndrome - See Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
• NPHS1 - See Congenital nephrotic syndrome Finnish type
• NPS 1 - See Nail-patella syndrome
• NRAS gene related Noonan syndrome - See Noonan syndrome
• NRDS - See Respiratory distress syndrome, infant
• NS2 - See Noonan syndrome
• NS3 - See Noonan syndrome
• NS4 - See Noonan syndrome
• NS5 - See Noonan syndrome
• NS6 - See Noonan syndrome
• NSF - See Nephrogenic Systemic Fibrosis
• NSGCT - See Nonseminomatous germ cell tumor
• NSRD1 - See Deafness, autosomal dominant nonsyndromic sensorineural 3
• NSX - See N syndrome
• NTDs - See Neural tube defects - not a rare disease
• NTE related motor neuron disorder - See Spastic paraplegia 39
• NTEMND - See Spastic paraplegia 39
• NTIA - See Aganglionosis, total intestinal
• Nuchal bleb, familial - See Fetal cystic hygroma
• Nuclear gene-encoded Leigh syndrome
• Numeric sex chromosome variations - not a rare disease
• Nutcracker syndrome - See Renal nutcracker syndrome
• Nutritional cerebellar degeneration - See Subacute cerebellar degeneration
• Nutritional rickets - See Rickets
• Nv-CJD - See Variant Creutzfeldt-Jakob disease
• NXG - See Necrobiotic xanthogranuloma
• NYS1 - See Nystagmus 1, congenital, X- linked
• NYS2 - See Nystagmus 2, congenital, autosomal dominant
• NYS3 - See Nystagmus 3, congenital, autosomal dominant
• NYS4 - See Nystagmus 4, congenital, autosomal dominant
• Nystagmus 1, congenital, X- linked
• Nystagmus 2, congenital, autosomal dominant
• Nystagmus 3, congenital, autosomal dominant
• Nystagmus 4, congenital, autosomal dominant
• Nystagmus congenital, motor 2 - See Nystagmus 2, congenital, autosomal dominant
• Nystagmus, congenital motor, 1 - See Nystagmus 1, congenital, X- linked
• Nystagmus, congenital motor, autosomal recessive
• Nystagmus, hereditary vertical
• Nystagmus, macrostoma, low set ears and brachydactyly - See Maumenee syndrome
• Nystagmus, myoclonic
• Nystagmus-associated episodic ataxia - See Episodic ataxia with nystagmus