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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L-2-hydroxyglutaric aciduria
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Laband syndrome
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Labrador lung
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Labyrinthitis syndrome
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Lachiewicz Sibley syndrome
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Lacrimoauriculodentodigital syndrome
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Lactate dehydrogenase deficiency
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Lactate dehydrogenase deficiency type A
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Lactate dehydrogenase deficiency type B
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Lactate dehydrogenase deficiency type C
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Lactic acidosis congenital infantile
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Ladda Zonana Ramer syndrome
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Lafora disease
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Lagophthalmia cleft lip palate
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Lambdoid synostosis
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Lambert Eaton Myasthenic syndrome
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Lambert syndrome
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Lamellar ichthyosis
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Lamellar ichthyosis, autosomal dominant form
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Lamellar ichthyosis, type 2
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Lamellar ichthyosis, type 3
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Lamellar recessive ichthyosis
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Landau-Kleffner syndrome
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Landouzy-Dejerine muscular dystrophy
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Landy Donnai syndrome
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Langer mesomelic dysplasia
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Langer Nishino Yamaguchi syndrome
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Langerhans cell histiocytosis
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Langerhans cell sarcoma
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Laparoschisis
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Laplane Fontaine Lagardere syndrome
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Large B cell diffuse lymphoma
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Large granular lymphocyte leukemia
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Laron syndrome type 1
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Laron syndrome type 2
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Larsen like osseous dysplasia dwarfism
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Larsen like syndrome, lethal type
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Larsen syndrome
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Larsen syndrome craniosynostosis
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Larsen syndrome, dominant type
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Larsen syndrome, recessive type
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Laryngeal abductor paralysis mental retardation
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Laryngeal cancer
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Laryngeal cancer, childhood
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Laryngeal cleft
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Laryngeal papillomatosis
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Laryngeal web congenital heart disease short stature
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Laryngocele
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Laryngomalacia
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Laryngomalacia dominant congenital
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Larynx atresia
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Lassueur-Graham-Little syndrome
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Late onset dominant cone dystrophy
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Late-onset congenital adrenal hyperplasia
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Lateral body wall defect
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Lateral meningocele syndrome
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Lateral semicircular canal malformation, familial, with external and middle ear abnormalities
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Laterality defects dominant
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Lathosterolosis
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Lathyrism
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Lattice corneal dystrophy type 1
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Lattice corneal dystrophy type 3A
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Laugier-Hunziker syndrome
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Launois-Bensaude adenolipomatosis
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Laurence Prosser Rocker syndrome
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Laurin-Sandrow syndrome
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LBWD syndrome
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LCAD deficiency
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LCHAD deficiency
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Le Marec Bracq Picaud syndrome
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Leao Ribeiro Da Silva syndrome
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Learman syndrome
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Leber congenital amaurosis
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Leber congenital amaurosis type 1
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Leber congenital amaurosis type 10
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Leber congenital amaurosis type 11
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Leber congenital amaurosis type 12
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Leber congenital amaurosis type 2
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Leber congenital amaurosis type 3
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Leber congenital amaurosis type 4
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Leber congenital amaurosis type 5
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Leber congenital amaurosis type 6
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Leber congenital amaurosis type 9
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Leber miliary aneurysm
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Leber optic atrophy
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Ledderhose disease
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Left ventricle-aorta tunnel
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Left-sided gallbladder
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Leg absence deformity cataract
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Legg-Calvé-Perthes syndrome
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Legionellosis
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Legionnaire's disease
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Lehman syndrome
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Leichtman Wood Rohn syndrome
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Leifer Lai Buyse syndrome
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Leigh syndrome
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Leigh syndrome , French Canadian type
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Leiner disease
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Leiomyoma of vulva and esophagus
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Leiomyomatosis and renal cell cancer, hereditary
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Leiomyomatosis familial
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Leiomyomatosis of esophagus, cataract and hematuria
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Leiomyomatosis, esophageal and vulval, with nephropathy
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Leiomyosarcoma
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Leipala Kaitila syndrome
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Leishmaniasis
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Leisti Hollister Rimoin syndrome
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Lelis syndrome
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Lemierre syndrome
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Lenegre disease
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Lentiginosis in context of NF
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Lentigo maligna melanoma
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Lenz Majewski hyperostotic dwarfism
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LEOPARD syndrome, 1
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LEOPARD syndrome, 2
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Leprechaunism
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Leprosy
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Leptomeningeal capillary - venous angiomatosis
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Leptospirosis
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Leri pleonosteosis
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Leri-Weil syndrome
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Lesch Nyhan syndrome
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Lethal chondrodysplasia Moerman type
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Lethal chondrodysplasia Seller type
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Lethal congenital contracture syndrome 1
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Lethal congenital contracture syndrome 2
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Leucocyte adhesion defect
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Leukemia subleukemic
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Leukemia, B-cell, chronic
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Leukemia, mast-cell
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Leukemia, Myeloid
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Leukemia, T-cell, chronic
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Leukocyte adhesion deficiency type 1
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Leukodystrophy
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Leukodystrophy reunion type
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Leukodystrophy with oligodontia
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Leukodystrophy, psuedometachromatic
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Leukoencephalopathy palmoplantar keratoderma
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Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema
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Leukomalacia
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Leukomelanoderma mental redardation hypotrichosis
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Leukonychia totalis
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Leukoplakia
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Levator syndrome
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Levic Stefanovic Nikolic syndrome
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Levine Crichley syndrome
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Levotransposition of the great arteries
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Lewandowski Kikolich syndrome
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Lewis Pashayan syndrome
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Lewy body dementia
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Leydig cells hypoplasia
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Lhermitte-Duclos disease
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Li Fraumeni syndrome
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Lichen planus follicularis
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Lichen sclerosis et atrophicus
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Lichtenstein syndrome
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Light chain disease
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Limb deficiencies distal with micrognathia
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Limb dystonia
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Limb reduction defect
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Limb scalp and skull defects
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Limb transversal defect cardiac anomaly
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Limb-body wall complex
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Limb-girdle muscular dystrophy
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Limb-girdle muscular dystrophy autosomal dominant
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Limb-girdle muscular dystrophy with delta-sarcoglyan deficiency
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Limb-girdle muscular dystrophy, type 1A
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Limb-girdle muscular dystrophy, type 1B
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Limb-girdle muscular dystrophy, type 2A
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Limb-girdle muscular dystrophy, type 2B
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Limb-girdle muscular dystrophy, type 2C
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Limb-girdle muscular dystrophy, type 2D
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Limb-girdle muscular dystrophy, type 2E
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Limb-girdle muscular dystrophy, type 2F
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Limb-girdle muscular dystrophy, type 2G
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Limb-girdle muscular dystrophy, type 2H
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Limbic encephalitis
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Limb-mammary syndrome
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Limited systemic sclerosis
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Lindsay Burn syndrome
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Lindstrom syndrome
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Linear hamartoma syndrome
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Linear nevus sebaceous syndrome
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Linear porokeratosis
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Linear scleroderma (subtype)
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Lip and oral cavity cancer
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Lip lit syndrome
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Lipase deficiency combined
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Lipid storage myopathy
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Lipidosis with triglycerid storage disease
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Lipoamide dehydrogenase deficiency
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Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules
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Lipodermatosclerosis
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Lipodystrophy
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Lipodystrophy, familial partial, type 2
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Lipogranulomatosis
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Lipoid congenital adrenal hyperplasia
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Lipoid proteinosis of Urbach and Wiethe
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Lipomatosis central non-encapsulated
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Lipomatosis familial benign cervical
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Lipomatous hemangiopericytoma
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Lipomyelomeningocele
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Lipoprotein disorder
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Liposarcoma
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Lissencephaly
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Lissencephaly immunodeficiency
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Lissencephaly syndrome type 1
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Lissencephaly syndrome type 2
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Lissencephaly, isolated
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Listeria infection
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Listeriosis
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Littoral cell angioma of the spleen
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Liver cancer
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Lobar atrophy of brain
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Lobstein disease
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Localized epiphyseal dysplasia
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Localized scleroderma
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Locked-in syndrome
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Lockwood Feingold syndrome
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Loeys-Dietz syndrome
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Loffredo Cennamo Cecio syndrome
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Logic syndrome
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Loiasis
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Loin pain hematuria syndrome
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Long QT syndrome 1
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Long QT syndrome 10
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Long QT syndrome 11
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Long QT syndrome 2
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Long QT syndrome 3
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Long QT syndrome 4
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Long QT syndrome 5
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Long QT syndrome 6
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Long QT syndrome 7
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Long QT syndrome 8
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Long QT syndrome 9
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Loose anagen hair syndrome
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Lopes Gorlin syndrome
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Lopes Marques de Faria syndrome
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Lopez Hernandez syndrome
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Low birth weight dwarfism dysgammaglobulinemia
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Lowe Kohn Cohen syndrome
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Lowe oculocerebrorenal syndrome
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Lower limb anomaly ureteral obstruction
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Lower limb deficiency hypospadias
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Lower mesodermal defects
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Lowry Maclean syndrome
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Lowry syndrome
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Lowry Wood syndrome
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Lowry Yong syndrome
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Lubani Al Saleh Teebi syndrome
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Lubinsky syndrome
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Lubs X-linked mental retardation syndrome
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Lucey Driscoll syndrome
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Lucky Gelehrter syndrome
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Lúes Congénita
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Lujan Fryns syndrome
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Lumbar malsegmentation short stature
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Lundberg syndrome
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Lung agenesis
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Lung herniation congenital defect of sternem
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Lurie Kletsky syndrome
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Luteinizing hormone releasing hormone, deficiency of with ataxia
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Lutz Richner Landolt syndrome
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Lutz-Lewandowsky epidermodysplasia verruciformis
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Lymph node neoplasm
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Lymphadenopathy, angioimmunoblastic with dysproteinemia
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Lymphangiectasia, pulmonary, congenital
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Lymphangiectasis
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Lymphangioleiomyomatosis
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Lymphangioma
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Lymphangiomatosis, pulmonary
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Lymphatic filariasis
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Lymphatic neoplasm
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Lymphedema distichiasis syndrome
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Lymphedema hereditary type 1
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Lymphedema hereditary type 2
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Lymphedema ptosis
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Lymphedema, microcephaly and chorioretinopathy syndrome
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Lymphedema, congenital
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Lymphoblastic lymphoma
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Lymphocytes absent
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Lymphocytic colitis
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Lymphocytic hypophysitis
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Lymphocytic infiltrate of Jessner
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Lymphocytic vasculitis
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Lymphogranuloma venereum (LGV) (caused by Chlamydia trachomatis)
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Lymphoid hamartoma
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Lymphoma AIDSrelated
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Lymphoma, gastric non Hodgkins type
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Lymphoma, large-cell
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Lymphoma, large-cell, immunoblastic
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Lymphoma, small cleaved-cell, diffuse
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Lymphoma, small cleaved-cell, follicular
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Lymphomatoid granulomatosis
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Lymphomatoid papulosis
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Lymphomatous thyroiditis
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Lymphosarcoma
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Lynch cancer family syndrome 2
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Lynch Lee Murday syndrome
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Lysine alpha-ketoglutarate reductase deficiency
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Lysinuric protein intolerance
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Lysteria monocytoigeneses meningitis
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