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 1/2

• 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