- 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 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
- 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-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
- 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
- Nephronophthisis familial adult spastic quadriparesis
- 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, 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 deafness optic nerve atrophy, and dementia - See Jensen syndrome
- 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 Daly Magnelli syndrome
- Neuhauser Eichner Opitz syndrome
- Neuhauser syndrome - See Megalocornea-intellectual disability 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 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
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
Suscribirse a:
Enviar comentarios (Atom)
No hay comentarios:
Publicar un comentario