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
The Genetic and Rare Diseases Information Center has posted questions from the
public for the terms in bold. Click on the term to view the list of
questions in the "Questions & Answers" section.
Browse by Condition
-
N acetyltransferase deficiency
-
N syndrome
-
Nablus mask-like facial syndrome
-
N-acetyl-alpha-D-galactosaminidase deficiency type III
-
N-acetylglutamate synthetase deficiency
-
NADH cytochrome B5 reductase deficiency
-
Naegeli syndrome
-
Nager acrofacial dysostosis
-
Naguib-Richieri-Costa syndrome
-
Nail dysplasia, isolated congenital
-
Nail patella syndrome
-
Nakajo Nishimura syndrome
-
Nakajo syndrome
-
Nance-Horan syndrome
-
Narcolepsy
-
Narrow oral fissure short stature cone shaped epiphyses
-
Nasal cavity cancer, childhood
-
Nasal polyposis, familial
-
Nasodigitoacoustic syndrome
-
Nasopalpebral lipoma coloboma syndrome
-
Nasopharyngeal cancer, childhood
-
Nasopharyngeal carcinoma
-
Natal teeth, intestinal pseudoobstruction and patent ductus
-
Nathalie syndrome
-
Native American myopathy
-
Naxos disease
-
Necrobiotic xanthogranuloma
-
Necrotizing enterocolitis
-
Necrotizing fasciitis
-
Negative rheumatoid factor polyarthritis
-
Neisseria meningitidis infection
-
Nelson syndrome
-
Nemaline myopathy 1
-
Nemaline myopathy 2
-
Nemaline myopathy 3
-
Nemaline myopathy 4
-
Nemaline myopathy 5
-
Nemaline myopathy 6
-
Neonatal adrenoleukodystrophy
-
Neonatal hemochromatosis
-
Neonatal herpes
-
Neonatal hypothyroidism
-
Neonatal intrahepatic cholestasis caused by citrin deficiency
-
Neonatal meningitis
-
Neonatal ovarian cyst
-
Neonatal progeroid syndrome
-
Neonatal stroke
-
Neonatal systemic lupus erythematosus
-
Nephrocalcinosis
-
Nephrogenic diabetes insipidus
-
Nephrogenic Systemic Fibrosis
-
Nephronophthisis 1
-
Nephronophthisis familial adult spastic quadriparesis
-
Nephropathic cystinosis
-
Nephropathy familial with hyperuricemia
-
Nephropathy, deafness, and hyperparathyroidism
-
Nephrosclerosis
-
Nephrosis deafness urinary tract digital malformation
-
Nephrotic syndrome ocular anomalies
-
Nephrotic syndrome, idiopathic, steroid-resistant
-
Nerve sheath neoplasm
-
Netherton syndrome
-
Neu Laxova syndrome
-
Neuhauser Daly Magnelli syndrome
-
Neuhauser Eichner Opitz syndrome
-
Neural crest tumor
-
Neuroacanthocytosis
-
Neuroaxonal dystrophy renal tubular acidosis
-
Neuroaxonal dystrophy, infantile
-
Neuroblastoma
-
Neurocutaneous melanosis
-
Neuroectodermal endocrine syndrome
-
Neuroendocrine carcinoma of the cervix
-
Neuroepithelioma
-
Neurofaciodigitorenal syndrome
-
Neuroferritinopathy
-
Neurofibroma
-
Neurofibromatosis
-
Neurofibromatosis type 1
-
Neurofibromatosis type 2
-
Neurofibromatosis type 3A
-
Neurofibromatosis type 3B
-
Neurofibromatosis type 4
-
Neurofibromatosis type 5
-
Neurofibromatosis type 6
-
Neurofibromatosis-Noonan syndrome
-
Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome
-
Neurofibrosarcoma
-
Neurogenic diabetes insipidus
-
Neurogenic hypertension
-
Neuroleptic malignant syndrome
-
Neuroma biliary tract
-
Neuromyelitis optica spectrum disorder
-
Neuronal ceroid lipofuscinoses
-
Neuronal interstitial dysplasia
-
Neuronal intranuclear inclusion disease
-
Neuropathy ataxia retinitis pigmentosa syndrome
-
Neuropathy hereditary sensory and autonomic type 1
-
Neuropathy sensory spastic paraplegia
-
Neuropathy, congenital, with arthrogryposis multiplex
-
Neuropathy, distal hereditary motor, Jerash type
-
Neuropathy, hereditary motor and sensory, LOM type
-
Neuropathy, hereditary motor and sensory, Okinawa type
-
Neuropathy, hereditary motor and sensory, Russe type
-
Neurosyphilis
-
Neurotoxicity syndromes
-
Neutral lipid storage disease with myopathy
-
Neutropenia chronic familial
-
Neutropenia lethal congenital with eosinophilia
-
Neutropenia monocytopenia deafness
-
Neutrophil-specific granule deficiency
-
Nevi flammei, familial multiple
-
Nevo syndrome
-
Nevoid basal cell carcinoma syndrome
-
Nevus of Ito
-
New daily-persistent headache
-
Nguyen syndrome
-
Nicolaides Baraitser syndrome
-
Niemann-Pick disease
-
Niemann-Pick disease type B
-
Niemann-Pick disease type C1
-
Niemann-Pick disease type C2
-
Niemann-Pick disease type D
-
Nievergelt syndrome
-
Night blindness skeletal anomalies unusual facies
-
Nijmegen breakage syndrome
-
Nipah virus encephalitis
-
Noble Bass Sherman syndrome
-
Nocardiosis
-
Nodular melanoma
-
Nodular nonsuppurative panniculitis
-
Nodular regenerative hyperplasia
-
Noma
-
Non 24 hour sleep wake disorder
-
Non functioning pancreatic endocrine tumor
-
Non-A-E hepatitis
-
Nonalcoholic steatohepatitis
-
Nonbullous congenital ichthyosiform erythroderma
-
Nondystrophic myotonia
-
Non-dystrophic myotonic disorders
-
Non-Hodgkin lymphoma, childhood
-
Non-Hodgkin lymphoma, during pregnancy
-
Non-involuting congenital hemangioma
-
Non-lissencephalic cortical dysplasia
-
Nonmedullary thyroid carcinoma, with or without cell oxyphilia
-
Nonseminomatous germ cell tumor
-
Non-small cell lung cancer, childhood
-
Nonspherocytic hemolytic anemia due to hexokinase deficiency
-
Nonsyndromic hereditary sensorineural hearing loss
-
Noonan syndrome
-
Noonan syndrome 1
-
Noonan syndrome 2
-
Noonan syndrome 3
-
Noonan syndrome 4
-
Noonan syndrome 5
-
Noonan syndrome 6
-
Noonan-like syndrome with loose anagen hair
-
Noonan-like/multiple giant cell lesion syndrome
-
Normokalemic periodic paralysis
-
Normophosphatemic familial tumoral calcinosis
-
Norrie disease
-
North Carolina macular dystrophy
-
Norum disease
-
Notalgia paresthetica
-
Nova syndrome
-
Novak syndrome
-
Nuchal bleb, familial
-
Nystagmus 1, congenital, X- linked
-
Nystagmus 2, congenital, autosomal dominant
-
Nystagmus 3, congenital, autosomal dominant
-
Nystagmus 4, congenital, autosomal dominant
-
Nystagmus, congenital motor, autosomal recessive
-
Nystagmus, hereditary vertical
-
Nystagmus, myoclonic