Rare Disease Directory J - L
- Jacobsen syndrome
- Jadassohn Lewandowsky syndrome
- Jaffer Beighton syndrome
- Jamaican vomiting sickness
- Jankovic Rivera syndrome
- Jansen type metaphyseal chondrodysplasia
- Japanese encephalitis
- Jarcho-Levin syndrome
- Jejunal atresia
- Jejunal atresia with renal adysplasia
- Jensen syndrome
- Jequier Kozlowski skeletal dysplasia
- Jervell and Lange-Nielsen syndrome 2
- Jervell Lange-Nielsen syndrome
- Jeune syndrome
- Jeune syndrome situs inversus
- Job syndrome
- Johanson Blizzard syndrome
- Johnson Hall Krous syndrome
- Johnson Munson syndrome
- Johnson neuroectodermal syndrome
- Johnston Aarons Schelley syndrome
- Joint laxity, familial
- Jones Hersh Yusk syndrome
- Jones syndrome
- Jorgenson Lenz syndrome
- Joubert syndrome 1
- Joubert syndrome 2
- Joubert syndrome 3
- Joubert syndrome 4
- Joubert syndrome 5
- Joubert syndrome 6
- Juberg Hayward syndrome
- Juberg Marsidi syndrome
- Judge Misch Wright syndrome
- Jumping Frenchmen of Maine
- Jung Wolff Back Stahl syndrome
- Juvenile dermatomyositis
- Juvenile gout
- Juvenile hyaline fibromatosis
- Juvenile macular degeneration and hypotrichosis
- Juvenile myelomonocytic leukemia
- Juvenile myoclonic epilepsy
- Juvenile nephronophthisis
- Juvenile neuronal ceroid lipofuscinosis
- Juvenile osteoporosis
- Juvenile Paget disease
- Juvenile pilocytic astrocytoma
- Juvenile polyposis syndrome
- Juvenile Scleroderma
- Juvenile temporal arteritis
- Juvenile-onset dystonia
- Kaler Garrity Stern syndrome
- Kallikrein hypertension
- Kallmann syndrome 2
- Kallmann syndrome, type 1, X-linked
- Kallmann syndrome, type 3, recessive
- Kantaputra Gorlin syndrome
- Kanzaki disease
- Kaolin pneumoconiosis
- Kaplan Plauchu Fitch syndrome
- Kaplowitz Bodurtha syndrome
- Kaposiform Hemangioendothelioma
- Kapur Toriello syndrome
- Karandikar Maria Kamble syndrome
- Kartagener syndrome
- Kashani Strom Utley syndrome
- Kasznica Carlson Coppedge syndrome
- Katsantoni Papadakou Lagoyanni syndrome
- Kaufman oculocerebrofacial syndrome
- Kawasaki syndrome
- KBG syndrome
- Kearns Sayre syndrome
- Kennedy disease
- Kennerknecht Sorgo Oberhoffer syndrome
- Kennerknecht Vogel syndrome
- Kenny Caffey syndrome
- Kenny-Caffey syndrome, Type 1
- Keratitis, hereditary
- Keratoacanthoma
- Keratoacanthoma familial
- Keratoconjunctivitis sicca
- Keratoconus
- Keratoconus posticus circumscriptus
- Keratoderma palmoplantar deafness
- Keratoderma palmoplantar spastic paralysis
- Keratoderma palmoplantaris transgrediens
- Keratolytic winter erythema
- Keratomalacia
- Keratosis focal palmoplantar gingival
- Keratosis follicularis dwarfism cerebral atrophy
- Keratosis follicularis spinulosa decalvans
- Keratosis palmoplantar periodontopathy
- Keratosis palmoplantaris adenocarcinoma of the colon
- Keratosis palmoplantaris papulosa
- Keratosis palmoplantaris striata 1
- Keratosis palmoplantaris striata 3
- Keratosis palmoplantaris with esophageal cancer
- Keratosis, seborrheic
- Kerion celsi
- Kernicterus
- Keshan disease
- Keutel syndrome
- KID syndrome
- Kidney cancer
- Kidney cancer, childhood
- Kienbock's disease
- Kifafa seizure disorder
- Kikuchi disease
- Kimura disease
- King Denborough syndrome
- Klatskin tumor
- Klebsiella
- Kleeblattschaedel syndrome
- Kleine Levin Syndrome
- Kleiner Holmes syndrome
- Klinefelter syndrome
- Klinefelter syndrome, variants
- Klippel Feil syndrome dominant type
- Klippel Feil syndrome recessive type
- Klippel Trenaunay syndrome
- Klumpke paralysis
- Kluver Bucy syndrome
- Kniest dysplasia
- Kniest like dysplasia lethal
- Knobloch syndrome
- Knuckle pads, leuconychia and sensorineural deafness
- Kocher-Debre-Semelaigne syndrome
- Kohler disease
- Kohlschutter Tonz syndrome
- Konigsmark Knox Hussels syndrome
- Koone Rizzo Elias syndrome
- Kosztolanyi syndrome
- Kotzot-Richter syndrome
- Kousseff Nichols syndrome
- Kowarski syndrome
- Kozlowski Brown Hardwick syndrome
- Kozlowski Celermajer Tink syndrome
- Kozlowski Ouvrier syndrome
- Kozlowski Rafinski Klicharska syndrome
- Kozlowski Tsuruta Taki syndrome
- Kozlowski Warren Fisher syndrome
- Kozlowski-Krajewska syndrome
- Krabbe disease, atypical, due to Saposin A deficiency
- Krabbe leukodystrophy
- Krasnow Qazi syndrome
- Krauss Herman Holmes syndrome
- Krieble Bixler syndrome
- Krukenberg carcinoma
- Kurczynski Casperson syndrome
- Kuru
- Kuskokwim disease
- Kuster Majewski Hammerstein syndrome
- Kuster syndrome
- Kyasanur Forest disease
- Kyphomelic dysplasia
- Kyphosis brachyphalangy optic atrophy
- Kyrle disease
- Laband syndrome
- Labrador lung
- Labyrinthitis syndrome
- Lachiewicz Sibley syndrome
- Lacrimoauriculodentodigital syndrome
- Lactate dehydrogenase deficiency
- Lactate dehydrogenase deficiency type A
- Lactate dehydrogenase deficiency type B
- Lactate dehydrogenase deficiency type C
- Lactic acidosis congenital infantile
- Ladda Zonana Ramer syndrome
- Lafora disease
- Lagophthalmia cleft lip palate
- Lambdoid synostosis
- Lambert Eaton Myasthenic syndrome
- Lambert syndrome
- Lamellar ichthyosis
- Lamellar ichthyosis, autosomal dominant form
- Lamellar ichthyosis, type 2
- Lamellar ichthyosis, type 3
- Lamellar recessive ichthyosis
- Landau-Kleffner syndrome
- Landouzy-Dejerine muscular dystrophy
- Landy Donnai syndrome
- Langer mesomelic dysplasia
- Langer Nishino Yamaguchi syndrome
- Langerhans cell histiocytosis
- Laparoschisis
- Laplane Fontaine Lagardere syndrome
- Large B cell diffuse lymphoma
- Large granular lymphocyte leukemia
- Laron syndrome type 2
- Laron-type dwarfism
- Larsen like osseous dysplasia dwarfism
- Larsen like syndrome, lethal type
- Larsen syndrome
- Larsen syndrome craniosynostosis
- Larsen syndrome, dominant type
- Larsen syndrome, recessive type
- Laryngeal abductor paralysis mental retardation
- Laryngeal cancer, childhood
- Laryngeal carcinoma
- Laryngeal cleft
- Laryngeal papillomatosis
- Laryngeal web congenital heart disease short stature
- Laryngocele
- Laryngomalacia
- Laryngomalacia dominant congenital
- Larynx atresia
- Lassueur-Graham-Little syndrome
- Late onset dominant cone dystrophy
- 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
- Launois-Bensaude adenolipomatosis
- Laurence Prosser Rocker syndrome
- Laurin-Sandrow syndrome
- LBWD syndrome
- LCAD deficiency
- LCHAD deficiency
- Le Marec Bracq Picaud syndrome
- Leao Ribeiro Da Silva syndrome
- Learman syndrome
- Leber congenital amaurosis type 1
- Leber congenital amaurosis type 3
- Leber congenital amaurosis type 4
- Leber congenital amaurosis type 9
- Leber miliary aneurysm
- Leber optic atrophy
- Ledderhose disease
- Left ventricle-aorta tunnel
- Left-sided gallbladder
- Leg absence deformity cataract
- Legg-Calvé-Perthes syndrome
- Legionellosis
- Legionnaire's disease
- Lehman syndrome
- Leichtman Wood Rohn syndrome
- Leifer Lai Buyse 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
- Leipala Kaitila syndrome
- Leishmaniasis
- Leisti Hollister Rimoin syndrome
- Lelis syndrome
- Lemierre syndrome
- Lenegre disease
- Lentiginosis in context of NF
- Lentigo maligna melanoma
- Lenz Majewski hyperostotic dwarfism
- LEOPARD syndrome, 1
- LEOPARD syndrome, 2
- Leprechaunism
- Leprosy
- Leptomeningeal capillary - venous angiomatosis
- Leptospirosis
- Leri pleonosteosis
- Leri-Weil syndrome
- Lesch Nyhan syndrome
- Lethal chondrodysplasia Moerman type
- Lethal chondrodysplasia Seller type
- Lethal congenital contracture syndrome 1
- Lethal congenital contracture syndrome 2
- Letterer-Siwe disease
- Leucocyte adhesion defect
- Leukemia subleukemic
- Leukemia, B-cell, chronic
- Leukemia, mast-cell
- Leukemia, Myeloid
- Leukemia, T-cell, chronic
- Leukocyte adhesion deficiency type 1
- Leukodystrophy
- Leukodystrophy reunion type
- Leukodystrophy with oligodontia
- Leukodystrophy, psuedometachromatic
- Leukoencephalopathy palmoplantar keratoderma
- Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema
- Leukomalacia
- Leukomelanoderma mental redardation hypotrichosis
- Leukonychia totalis
- Leukoplakia
- Levator syndrome
- Levic Stefanovic Nikolic syndrome
- Levine Crichley syndrome
- Levotransposition of the great arteries
- Lewandowski Kikolich syndrome
- Lewis Pashayan syndrome
- Lewy body dementia
- Leydig cells hypoplasia
- Lhermitte-Duclos disease
- Li Fraumeni syndrome
- Lichen planus follicularis
- Lichen sclerosis et atrophicus
- Lichtenstein syndrome
- Light chain disease
- Limb deficiencies distal micrognathia
- Limb dystonia
- Limb reduction defect
- Limb scalp and skull defects
- Limb transversal defect cardiac anomaly
- Limb-body wall complex
- Limb-girdle muscular dystrophy
- Limb-girdle muscular dystrophy autosomal dominant
- Limb-girdle muscular dystrophy with delta-sarcoglyan deficiency
- 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 2E
- Limb-girdle muscular dystrophy, type 2F
- Limb-girdle muscular dystrophy, type 2G
- Limb-girdle muscular dystrophy, type 2H
- Limbic encephalitis
- Limb-mammary syndrome
- Limited systemic sclerosis
- Lindsay Burn syndrome
- Lindstrom syndrome
- Linear hamartoma syndrome
- Linear nevus sebaceous syndrome
- Linear porokeratosis
- Linear scleroderma (subtype)
- Lip and oral cavity cancer
- Lip lit syndrome
- Lipase deficiency combined
- Lipid storage myopathy
- 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 congenital adrenal hyperplasia
- Lipoid proteinosis of Urbach and Wiethe
- Lipomatosis central non-encapsulated
- Lipomatosis familial benign cervical
- Lipomatous hemangiopericytoma
- Lipomyelomeningocele
- Lipoprotein disorder
- Liposarcoma
- Lissencephaly
- Lissencephaly immunodeficiency
- Lissencephaly syndrome type 1
- Lissencephaly syndrome type 2
- Lissencephaly, isolated
- Listeria infection
- Listeriosis
- Littoral cell angioma of the spleen
- Liver neoplasms
- Lobar atrophy of brain
- Lobstein disease
- Localized epiphyseal dysplasia
- Localized scleroderma
- Locked-in syndrome
- Lockwood Feingold syndrome
- Loeys-Dietz syndrome
- Loffredo Cennamo Cecio syndrome
- Logic syndrome
- 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 7
- Long QT syndrome 8
- Long QT syndrome 9
- Loose anagen hair syndrome
- Lopes Gorlin syndrome
- Lopes Marques de Faria syndrome
- Lopez Hernandez syndrome
- Lou Gehrig's disease
- Low birth weight dwarfism dysgammaglobulinemia
- Lowe Kohn Cohen syndrome
- Lowe oculocerebrorenal syndrome
- Lower limb anomaly ureteral obstruction
- Lower limb deficiency hypospadias
- Lower mesodermal defects
- Lowry Maclean syndrome
- Lowry syndrome
- Lowry Wood syndrome
- Lowry Yong syndrome
- Lubani Al Saleh Teebi syndrome
- Lubinsky syndrome
- Lubs X-linked mental retardation syndrome
- Lucey Driscoll syndrome
- Lucky Gelehrter syndrome
- Lúes Congénita
- Lujan Fryns syndrome
- Lumbar malsegmentation short stature
- Lundberg syndrome
- Lung agenesis
- Lung herniation congenital defect of sternem
- Lurie Kletsky syndrome
- Luteinizing hormone releasing hormone, deficiency of with ataxia
- Lutz Richner Landolt syndrome
- Lutz-Lewandowsky epidermodysplasia verruciformis
- Lymph node neoplasm
- Lymphadenopathy, angioimmunoblastic with dysproteinemia
- Lymphangiectasia, pulmonary, congenital
- Lymphangiectasis
- Lymphangioleiomyomatosis
- Lymphangioma
- Lymphangiomatosis, pulmonary
- Lymphatic filariasis
- Lymphatic neoplasm
- Lymphedema distichiasis syndrome
- Lymphedema hereditary type 1
- Lymphedema hereditary type 2
- Lymphedema ptosis
- Lymphedema, microcephaly and chorioretinopathy syndrome
- Lymphedema, congenital
- Lymphoblastic lymphoma
- Lymphocytes absent
- Lymphocytic colitis
- Lymphocytic hypophysitis
- Lymphocytic infiltrate of Jessner
- Lymphocytic vasculitis
- Lymphogranuloma venereum (LGV) (caused by Chlamydia trachomatis)
- Lymphoid hamartoma
- 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 cancer family syndrome 2
- Lynch Lee Murday syndrome
- Lysine alpha-ketoglutarate reductase deficiency
- Lysinuric protein intolerance
- Lysteria monocytoigeneses meningitis
UA Chapters
Colgate Univ.
Ependymoma
Princeton Univ.
Aplastic Anemia
Univ. of Arizona
Cysitc Fibrosis
Ohio St. Univ.
CMT
Fordham Univ.
Extrarenal Rhabdoid Tumor
Syracuse Univ.
Anaplastic Astrocytoma
U of Notre Dame
Osteosarcoma
Saint Francis U
Apraxia
Boston College
Duchenne muscular dystrophy
N. Carolina St. U
Leukemia
Penn St. Univ.
Kidney Cancer
Northwestern U
Niemann-Pick Type C
Univ. of Nebraska
Pediatric Brain Cancer
U of Wisconsin–Madison
Leigh's Disease
Univ. of Illinois
Acoustic Neuroma
Univ. of Maryland
Cystic Fibrosis
Coastal Carolina U
TBD
Show Your Support...
Shop the UA Store
T-shirts, Sweatshirts, Polo shirts and more...
Join the Team
Help us by joining the fight against rare diseases. Become a member now and start enjoying the benefits today.
Uplifting Athletes News
Uplifting Athletes Blog
PhRMA interview with Scott Shirley
May 22, 2013
The Pharmaceutical Research and Manufacturers of America (PhRMA) represents innovative biopharmaceutical research and di…
President Barack Obama welcomes Hoffman family and 2012 Uplifting Athletes Rare Disease Champion Rex Burkhead to White House
April 29, 2013
Jack Hoffman touched a lot of hearts with his inspirational 69-yard touchdown run during the Nebraska football spring ga…
2013 NFL Draft Recap
April 27, 2013
Penn State University, Ohio State University, Northwestern University, North Carolina State University, Colgate University, University of Maryland, Boston College, University of Nebraska
2013 NFL Draft RECAP: Very proud to say that the 2012 Rare Disease Champion and eight other Uplifting Athletes were s…