- 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
domingo, 27 de enero de 2019
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
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