Rare Diseases and Related Terms
Rare diseases terms are either (1) terms for which information requests have
been made to the Office of Rare Diseases Research, the Genetic and Rare Diseases
Information Center, or the National Human Genome Research Institute; or (2)
diseases that have been suggested as being rare. 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.
Certain diseases with 200,000 or more affected individuals may be included in
this list if certain subpopulations of people who have the disease are equal to
the prevalence standard for rare diseases. We welcome suggestions for additions
to or deletions from the list. Your recommendations may be sent via e-mail to
ord@od.nih.gov
Browse by Condition
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N acetyltransferase deficiency
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N syndrome
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Nablus mask-like facial syndrome
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N-acetyl glucosamine 6-sulfate sulfatase deficiency
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N-acetyl glutamate synthetase deficiency
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N-acetyl-alpha-D-galactosaminidase
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NADH cytochrome B5 reductase deficiency
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Naegeli syndrome
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Naguib-Richieri-Costa syndrome
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Nail dysplasia, isolated congenital
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Nail Patella syndrome
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Nakajo syndrome
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Nakamura Osame syndrome
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Nance-Horan syndrome
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Nanism due to growth hormone combined deficiency
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Narrow oral fissure short stature cone shaped epiphyses
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Nasal cavity cancer, childhood
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Nasal polyposis, familial
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Nasodigitoacoustic syndrome
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Nasopalpebral lipoma coloboma syndrome
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Nasopharyngeal cancer, childhood
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Nasopharyngeal carcinoma
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Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia
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Natal teeth, intestinal pseudoobstruction and patent ductus
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Nathalie syndrome
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Native American myopathy
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Navajo neurohepatopathy
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Navajo poikiloderma
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Naxos disease
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Necrotizing enterocolitis
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Necrotizing fasciitis
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Negative rheumatoid factor polyarthritis
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Neisseria meningitidis
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Nelson syndrome
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Nemaline myopathy 1
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Nemaline myopathy 2
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Nemaline myopathy 3
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Nemaline myopathy 4
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Nemaline myopathy 5
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Nemaline myopathy 6
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NEMO mutation with immunodeficiency
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Neonatal hemochromatosis
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Neonatal herpes
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Neonatal meningitis
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Neonatal ovarian cyst
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Neonatal progeroid syndrome
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Neonatal stroke
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Neonatal Systemic lupus erythematosus
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Neonatal-onset citrullinemia type 2
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Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
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Nephrocalcinosis
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Nephrogenic diabetes insipidus
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Nephrogenic Systemic Fibrosis
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Nephronophthisis familial adult spastic quadriparesis
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Nephropathic cystinosis
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Nephropathy deafness hyperparathyroidism
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Nephropathy familial with hyperuricemia
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Nephrosclerosis
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Nephrosis deafness urinary tract digital malformation
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Nephrotic syndrome ocular anomalies
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Nephrotic syndrome, idiopathic, steroid-resistant
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Nerve sheath neoplasm
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Nesidioblastosis, alpha cell hyperplasia, microglucagonoma and nonfunctioning islet cell tumor
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Netherton syndrome
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Neu Laxova syndrome
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Neuhauser Daly Magnelli syndrome
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Neuhauser Eichner Opitz syndrome
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Neural crest tumor
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Neural tube defect, folate-sensitive
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Neural tube defects X-linked
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Neuraminidase deficiency with beta-galactosidase deficiency
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Neuritis with brachial predilection
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Neuroaxonal dystrophy renal tubular acidosis
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Neuroaxonal dystrophy, infantile
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Neuroblastoma
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Neurocutaneous melanosis
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Neuroectodermal endocrine syndrome
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Neuroendocrine carcinoma of the cervix
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Neuroepithelioma
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Neurofaciodigitorenal syndrome
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Neurofibroma
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Neurofibromatosis type 1
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Neurofibromatosis type 2
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Neurofibromatosis type 3A
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Neurofibromatosis type 3B
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Neurofibromatosis type 4
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Neurofibromatosis type 5
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Neurofibromatosis type 6
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Neurofibromatosis-Noonan syndrome
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Neurofibrosarcoma
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Neurogenic hypertension
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Neuroleptic malignant syndrome
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Neuroma biliary tract
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Neuronal interstitial dysplasia
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Neuronal intestinal pseudoobstruction
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Neuronal intranuclear hyaline inclusion disease
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Neuronal intranuclear inclusion disease
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Neuropathy ataxia and retinis pigmentosa
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Neuropathy hereditary sensory and autonomic type 1
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Neuropathy motor sensory type 2 deafness mental retardation
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Neuropathy sensory spastic paraplegia
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Neuropathy, congenital, with arthrogryposis multiplex
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Neuropathy, distal hereditary motor, Jerash type
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Neuropathy, hereditary motor and sensory, LOM type
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Neuropathy, hereditary motor and sensory, Okinawa type
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Neuropathy, hereditary motor and sensory, Russe type
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Neurosarcoidosis
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Neurosyphilis
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Neurotoxicity syndromes
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Neutral lipid storage disease with myopathy
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Neutropenia intermittent
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Neutropenia monocytopenia deafness
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Neutropenia, severe chronic
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Neutrophilic dermatosis, acute febrile
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Nevi flammei, familial multiple
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Nevo syndrome
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Nevoid basal cell carcinoma syndrome
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Nevus of ota retinitis pigmentosa
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Nevus sebaceus of Jadassohn
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Nguyen syndrome
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Nicolaides Baraitser syndrome
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Niemann-Pick Disease
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Niemann-Pick disease type D
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Niemann-Pick disease, type C1
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Niemann-Pick disease, type C2
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Nievergelt syndrome
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Night blindness skeletal anomalies unusual facies
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Night blindness, congenital stationary
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Nijmegen Breakage Syndrome
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Nipah virus encephalitis
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Nivelon Nivelon Mabille syndrome
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Noble Bass Sherman syndrome
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Nocardiosis
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Nodular melanoma
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Noma
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Non functioning pancreatic endocrine tumor
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Non-alcoholic steatohepatitis (NASH)
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Nondystrophic myotonia
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Non-dystrophic Myotonic Disorders
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Non-Hodgkin lymphoma, childhood
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Non-Hodgkin's lymphoma, during pregnancy
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Noninsulin-dependent diabetes mellitus with deafness
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Nonkeratan-sulfate-excreting Morquio syndrome
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Non-lissencephalic cortical dysplasia
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Nonmedullary thyroid carcinoma, with or without cell oxyphilia
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Nonne-Milroy disease
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Nonseminomatous germ cell tumor
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Non-small cell lung cancer
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Non-small cell lung cancer, childhood
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Nonsyndromic hereditary sensorineural hearing loss
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Noonan like syndrome
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Noonan syndrome
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Noonan syndrome 3
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Norman Roberts lissencephaly syndrome
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Normokalemic periodic paralysis
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Norrie disease
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Norum disease
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Nose polyposis, familial
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Notalgia paresthetica
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Nova syndrome
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Novak syndrome
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Nuchal bleb, familial
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Nystagmus 1, congenital, X- linked
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Nystagmus 2, congenital, autosomal dominant
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Nystagmus 3, congenital, autosomal dominant
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Nystagmus 4, congenital, autosomal dominant
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Nystagmus, congenital motor, autosomal recessive
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Nystagmus, hereditary vertical
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Nystagmus, myoclonic
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