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
-
L-2-hydroxyglutaric aciduria
-
La Crosse encephalitis
-
Laband syndrome
-
Labrador lung
-
Lachiewicz Sibley syndrome
-
Lacrimo-auriculo-dento-digital syndrome
-
Lactate dehydrogenase A deficiency
-
Lactate dehydrogenase B deficiency
-
Lactate dehydrogenase deficiency
-
Lactate dehydrogenase deficiency type C
-
Lactic acidosis congenital infantile
-
Lafora disease
-
Lagophthalmia cleft lip palate
-
Laing distal myopathy
-
Lambdoid synostosis
-
Lambert Eaton myasthenic syndrome
-
Lambert syndrome
-
Lamellar ichthyosis
-
Landau-Kleffner syndrome
-
Landy-Donnai syndrome
-
Langer mesomelic dysplasia
-
Langer Nishino Yamaguchi syndrome
-
Langerhans cell histiocytosis
-
Langerhans cell sarcoma
-
Laparoschisis
-
Laplane Fontaine Lagardere syndrome
-
Large B cell diffuse lymphoma
-
Large granular lymphocyte leukemia
-
Laron syndrome
-
Larsen syndrome
-
Larsen syndrome, dominant type
-
Larsen syndrome, recessive type
-
Larsen-like syndrome
-
Laryngeal abductor paralysis mental retardation
-
Laryngeal cancer
-
Laryngeal cancer, childhood
-
Laryngeal cleft
-
Laryngeal papillomatosis
-
Laryngocele
-
Laryngomalacia
-
Laryngoonychocutaneous syndrome
-
Larynx atresia
-
Larynx, congenital partial atresia of
-
Lassueur-Graham-Little syndrome
-
Late-onset congenital adrenal hyperplasia
-
Lateral body wall defect
-
Lateral meningocele syndrome
-
Lateral semicircular canal malformation, familial, with external and middle ear abnormalities
-
Laterality defects dominant
-
Lathosterolosis
-
Lathyrism
-
Lattice corneal dystrophy type 1
-
Lattice corneal dystrophy type 3A
-
Laugier-Hunziker syndrome
-
Laurence Prosser Rocker syndrome
-
Laurin-Sandrow syndrome
-
LCAD deficiency
-
LCHAD deficiency
-
Le Marec Bracq Picaud syndrome
-
Leber congenital amaurosis
-
Leber congenital amaurosis 1
-
Leber congenital amaurosis 10
-
Leber congenital amaurosis 11
-
Leber congenital amaurosis 12
-
Leber congenital amaurosis 13
-
Leber congenital amaurosis 14
-
Leber congenital amaurosis 15
-
Leber congenital amaurosis 16
-
Leber congenital amaurosis 2
-
Leber congenital amaurosis 3
-
Leber congenital amaurosis 4
-
Leber congenital amaurosis 5
-
Leber congenital amaurosis 6
-
Leber congenital amaurosis 7
-
Leber congenital amaurosis 8
-
Leber congenital amaurosis 9
-
Leber hereditary optic neuropathy
-
Leber hereditary optic neuropathy with dystonia
-
Leber miliary aneurysm
-
Ledderhose disease
-
Left ventricular noncompaction
-
Left-sided gallbladder
-
Leg absence deformity cataract
-
Legg-Calve-Perthes disease
-
Legionellosis
-
Legius syndrome
-
Leigh syndrome
-
Leigh syndrome, French Canadian type
-
Leiner disease
-
Leiomyoma of vulva and esophagus
-
Leiomyomatosis and renal cell cancer, hereditary
-
Leiomyomatosis familial
-
Leiomyomatosis of esophagus, cataract and hematuria
-
Leiomyomatosis, esophageal and vulval, with nephropathy
-
Leiomyosarcoma
-
Leishmaniasis
-
Leisti Hollister Rimoin syndrome
-
Lelis syndrome
-
Lemierre syndrome
-
Lenegre disease
-
Lentigo maligna melanoma
-
Lenz Majewski hyperostotic dwarfism
-
Lenz microphthalmia syndrome
-
LEOPARD syndrome
-
Leprechaunism
-
Leptospirosis
-
Leri pleonosteosis
-
Leri Weill dyschondrosteosis
-
Lesch Nyhan syndrome
-
Lethal chondrodysplasia Moerman type
-
Lethal chondrodysplasia Seller type
-
Lethal congenital contracture syndrome 1
-
Lethal congenital contracture syndrome 2
-
Lethal short limb skeletal dysplasia Al Gazali type
-
Lethal short-limb dwarfism, McAlister-Crane type
-
Leucine-sensitive hypoglycemia of infancy
-
Leucocyte adhesion defect
-
Leukemia subleukemic
-
Leukemia, B-cell, chronic
-
Leukemia, Myeloid
-
Leukemia, T-cell, chronic
-
Leukocyte adhesion deficiency type 1
-
Leukodystrophy
-
Leukodystrophy reunion type
-
Leukodystrophy with oligodontia
-
Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia
-
Leukodystrophy, hypomyelinating 3
-
Leukodystrophy, pseudometachromatic
-
Leukoencephalopathy palmoplantar keratoderma
-
Leukoencephalopathy with vanishing white matter
-
Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema
-
Leukoencephalopathy, cerebral calcifications, and cysts
-
Leukomalacia
-
Leukomelanoderma mental redardation hypotrichosis
-
Leukonychia totalis
-
Leukoplakia
-
Levator syndrome
-
Levic Stefanovic Nikolic syndrome
-
Levotransposition of the great arteries
-
Levy-Yeboa syndrome
-
Lewy body dementia
-
Leydig cells hypoplasia
-
Lhermitte-Duclos disease
-
Lichen planus follicularis
-
Lichen planus pigmentosus
-
Lichen sclerosus
-
Lichtenstein syndrome
-
Liddle syndrome
-
Li-Fraumeni syndrome
-
Light chain deposition disease
-
Limb deficiencies distal with micrognathia
-
Limb dystonia
-
Limb reduction defect
-
Limb-body wall complex
-
Limb-girdle muscular dystrophy
-
Limb-girdle muscular dystrophy type 2E
-
Limb-girdle muscular dystrophy type 2F
-
Limb-girdle muscular dystrophy type 2H
-
Limb-girdle muscular dystrophy, type 1A
-
Limb-girdle muscular dystrophy, type 1B
-
Limb-girdle muscular dystrophy, type 2A
-
Limb-girdle muscular dystrophy, type 2B
-
Limb-girdle muscular dystrophy, type 2C
-
Limb-girdle muscular dystrophy, type 2D
-
Limb-girdle muscular dystrophy, type 2G
-
Limbic encephalitis
-
Limb-mammary syndrome
-
Limited scleroderma
-
Linear hamartoma syndrome
-
Linear IgA disease
-
Linear nevus sebaceous syndrome
-
Linear porokeratosis
-
Linear scleroderma
-
Lip and oral cavity cancer
-
Lipase deficiency combined
-
Lipidosis with triglycerid storage disease
-
Lipoamide dehydrogenase deficiency
-
Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules
-
Lipodermatosclerosis
-
Lipodystrophy
-
Lipodystrophy, familial partial, type 2
-
Lipogranulomatosis
-
Lipoid proteinosis of Urbach and Wiethe
-
Lipomyelomeningocele
-
Liposarcoma
-
Lissencephaly 1
-
Lissencephaly 2
-
Lissencephaly syndrome type 1
-
Lissencephaly X-linked
-
Lissencephaly, isolated
-
Listeria infection
-
Littoral cell angioma of the spleen
-
Liver cancer
-
Liver failure acute infantile
-
Localized epiphyseal dysplasia
-
Localized hypertrophic neuropathy
-
Localized scleroderma
-
Locked-in syndrome
-
Lockwood Feingold syndrome
-
Loeys-Dietz syndrome
-
Loeys-Dietz syndrome type 1A
-
Loeys-Dietz syndrome type 1B
-
Loeys-Dietz syndrome type 2A
-
Loeys-Dietz syndrome type 2B
-
Logopenic progressive aphasia
-
Loiasis
-
Loin pain hematuria syndrome
-
Long QT syndrome 1
-
Long QT syndrome 10
-
Long QT syndrome 11
-
Long QT syndrome 2
-
Long QT syndrome 3
-
Long QT syndrome 4
-
Long QT syndrome 5
-
Long QT syndrome 6
-
Long QT syndrome 8
-
Long QT syndrome 9
-
Loose anagen hair syndrome
-
Lopes Gorlin syndrome
-
Lowe oculocerebrorenal syndrome
-
Lower mesodermal defects sequence
-
Lowry Maclean syndrome
-
Lowry Wood syndrome
-
Lubani Al Saleh Teebi syndrome
-
Lubinsky syndrome
-
Lubs X-linked mental retardation syndrome
-
Lucey-Driscoll syndrome
-
Lujan Fryns syndrome
-
Lumbar malsegmentation short stature
-
Lung agenesis
-
Lupus nephritis
-
Lutz Richner Landolt syndrome
-
Lymph node neoplasm
-
Lymphangiectasis
-
Lymphangioleiomyomatosis
-
Lymphangioma
-
Lymphangiomatosis
-
Lymphatic filariasis
-
Lymphatic neoplasm
-
Lymphedema and cerebral arteriovenous anomaly
-
Lymphedema, microcephaly and chorioretinopathy syndrome
-
Lymphedema, congenital
-
Lymphedema-distichiasis syndrome
-
Lymphoblastic lymphoma
-
Lymphocytes absent
-
Lymphocytic colitis
-
Lymphocytic hypophysitis
-
Lymphocytic infiltrate of Jessner
-
Lymphocytic vasculitis
-
Lymphogranuloma venereum
-
Lymphoma AIDSrelated
-
Lymphoma, gastric non Hodgkins type
-
Lymphoma, large-cell
-
Lymphoma, large-cell, immunoblastic
-
Lymphoma, small cleaved-cell, diffuse
-
Lymphoma, small cleaved-cell, follicular
-
Lymphomatoid granulomatosis
-
Lymphomatoid papulosis
-
Lymphomatous thyroiditis
-
Lymphosarcoma
-
Lynch syndrome
-
Lysinuric protein intolerance
-
Lysteria monocytoigeneses meningitis