This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/diseases.asp .

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

  • Labrador lung
  • Labyrinthitis syndrome
  • Lachanophobia
  • Lachiewicz Sibley syndrome
  • Lacrimo-auriculo-dento-digital syndrome
  • Lactate dehydrogenase deficiency type A
  • Lactate dehydrogenase deficiency type B
  • Lactate dehydrogenase deficiency type C
  • Lactate dehydrogenase deficiency
  • Lactic acidosis congenital infantile
  • Ladda Zonana Ramer syndrome
  • Lafora disease
  • Lagophthalmia cleft lip palate
  • Lambdoid synostosis familial
  • Lambert syndrome
  • Lambert-Eaton Myasthenic Syndrome (Lambert-Eaton paraneoplastic cerebellar degeneration)
  • Lambert-Eaton syndrome
  • Lamellar ichthyosis
  • Lamellar recessive ichthyosis
  • Landau-Kleffner syndrome
  • Landouzy-Dejerine muscular dystrophy
  • Landy Donnai syndrome
  • Langdon Down
  • Langer Nishino Yamaguchi syndrome
  • Langer-Giedion syndrome
  • Langerhans cell granulomatosis
  • Langerhans cell histiocytosis
  • Laparoschisis
  • Laplane Fontaine Lagardere syndrome
  • Large B cell diffuse lymphoma
  • Laron-type dwarfism
  • Larsen like osseous dysplasia dwarfism
  • Larsen like syndrome lethal type
  • Larsen syndrome craniosynostosis
  • Larsen syndrome, dominant type
  • Larsen syndrome, recessive type
  • Larsen syndrome
  • Laryngeal abductor paralysis mental retardation
  • Laryngeal carcinoma
  • Laryngeal cleft
  • Laryngeal neoplasm
  • Laryngeal papillomatosis
  • Laryngeal web congenital heart disease short stature
  • Laryngocele
  • Laryngomalacia dominant congenital
  • Laryngomalacia
  • Larynx atresia
  • Lassueur-Graham-Little syndrome
  • Late onset dominant cone dystrophy
  • Lateral body wall defect
  • Laterality defects dominant
  • Lattice corneal dystrophy type 2
  • Launois-Bensaude adenolipomatosis
  • Laurence Prosser Rocker syndrome
  • Laurence-Moon-Bardet-Biedl syndrome
  • Laurin Sandrow syndrome
  • Laxova Brown Hogan syndrome
  • LBWC - amniotic bands
  • LBWD syndrome
  • LCHAD deficiency
  • Leao Ribeiro Da Silva syndrome
  • Learman syndrome
  • Leber miliary aneurysm
  • Leber optic atrophy
  • Leber's Disease
  • Lecithin cholesterol acyltransferase deficiency
  • Ledderhose disease
  • Lee Root Fenske syndrome
  • Left ventricle-aorta tunnel
  • Leg absence deformity cataract
  • Legg-Calvé-Perthes syndrome
  • Legionellosis
  • Legionnaire's disease
  • Lehman syndrome
  • Leichtman Wood Rohn syndrome
  • Leifer Lai Buyse syndrome
  • Leigh disease
  • Leigh syndrome , French canadian type
  • Leiner disease
  • Leiomyoma
  • Leiomyomatosis familial
  • Leiomyomatosis of oesophagus cataract hematuria
  • Leiomyosarcoma
  • Leipala Kaitila syndrome
  • Leishmaniasis
  • Leisti Hollister Rimoin syndrome
  • Lemierre's syndrome
  • Lennox-Gastaut syndrome
  • Lentiginosis in context of NF
  • Lenz Majewski hyperostotic dwarfism
  • Lenz microphthalmia syndrome
  • Leprechaunism
  • Leprophobia
  • 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
  • Letterer-Siwe disease
  • Leucinosis
  • Leukemia subleukemic
  • Leukemia, B-Cell, chronic
  • Leukemia, Myeloid
  • Leukemia, T-Cell, chronic
  • Leukemia
  • Leukocyte adhesion deficiency syndrome
  • Leukocyte adhesion deficiency type 2
  • Leukocytoclastic angiitis
  • Leukodystrophy reunion type
  • Leukodystrophy, globoid cell
  • Leukodystrophy, metachromatic
  • Leukodystrophy, psuedometachromatic
  • Leukodystrophy, Sudanophilic
  • Leukodystrophy
  • Leukoencephalopathy palmoplantar keratoderma
  • Leukomalacia
  • Leukomelanoderma mental redardation hypotrichosis
  • Leukophobia
  • Leukoplakia
  • Levator syndrome
  • Levic Stefanovic Nikolic syndrome
  • Levine Crichley syndrome
  • Lewandowski Kikolich syndrome
  • Lewis Pashayan syndrome
  • Leydig cells hypoplasia
  • LGCR
  • LGS
  • Lhermitte-Duclos disease
  • Lichen myxedematosus
  • Lichen planus follicularis
  • Lichen planus
  • Lichen sclerosis et atrophicus
  • Lichstenstein syndrome
  • Lida Kannari syndrome
  • Liddle syndrome
  • Li-Fraumeni syndrome
  • Light chain disease
  • Ligyrophobia
  • 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
  • Limnophobia
  • Lindsay Burn syndrome
  • Lindstrom syndrome
  • Linear hamartoma syndrome
  • Linear nevus syndrome
  • Linonophobia
  • Lip lit syndrome
  • Lipid storage myopathy
  • Lipidosis with triglycerid storage disease
  • Lipoamide dehydrogenase deficiency
  • Lipodystrophy Rieger anomaly diabetes
  • Lipodystrophy
  • Lipogranulomatosis
  • Lipoid congenital adrenal hyperplasia
  • Lipoid proteinosis of Urbach and Wiethe
  • Lipomatosis central non-encapsulated
  • Lipomatosis familial benign cervical
  • Lipomucopolysaccharidosis
  • Lipoprotein disorder
  • Liposarcoma
  • Lisker Garcia Ramos syndrome
  • Lison Kornbrut Feinstein syndrome
  • Lissencephaly immunodeficiency
  • Lissencephaly syndrome type 1
  • Lissencephaly syndrome type 2
  • Lissencephaly, isolated
  • Lissencephaly
  • Listeria infection
  • Listeriosis
  • Liticaphobia
  • Liver cirrhosis
  • Liver neoplasms
  • Lobar atrophy of brain
  • Lobster hand
  • Lobstein disease
  • Localized epiphyseal dysplasia
  • Locked-In syndrome
  • Lockwood Feingold syndrome
  • Loffredo Cennamo Cecio syndrome
  • Logic syndrome
  • Loiasis
  • Loin pain hematuria syndrome
  • Long QT syndrome type 1
  • Long QT syndrome type 2
  • Long QT syndrome type 3
  • Long QT Syndrome
  • Loose anagen hair syndrome
  • Loose anagene syndrome
  • Lopes Gorlin syndrome
  • Lopes Marques de Faria syndrome
  • Lopez Hernandez syndrome
  • Lou Gehrig's disease
  • Louis Bar syndrome
  • Low birth weight dwarfism dysgammaglobulinemia
  • Lowe Kohn Cohen syndrome
  • Lowe oculocerebrorenal syndrome
  • Lowe syndrome
  • Lower limb anomaly ureteral obstruction
  • Lower limb deficiency hypospadias
  • Lower mesodermal defects
  • Lowry Maclean syndrome
  • Lowry syndrome
  • Lowry Wood syndrome
  • Lowry Yong syndrome
  • LSA
  • L-transposition and ccTGA
  • Lubani Al Saleh Teebi syndrome
  • Lubinsky syndrome
  • Lucey Driscoll syndrome
  • Lucky Gelehrter syndrome
  • Lúes Congénita
  • Luiphobia
  • Lujan-Fryns syndrome
  • Lumbar malsegmentation short stature
  • Lundberg syndrome
  • Lung agenesis heart defect thumb anomalies
  • Lung cancer
  • Lung herniation congenital defect of sternem
  • Lung neoplasm
  • Lupus anticoagulant, familial
  • Lupus erythematosus
  • Lurie Kletsky syndrome
  • Luteinizing hormone releasing hormone, deficiency of with ataxia
  • Lutz Richner Landolt syndrome
  • Lutz-Lewandowsky epidermodysplasia verruciformis
  • Lyell's syndrome
  • Lygophobia
  • Lyme Disease
  • Lymph node neoplasm
  • Lymphadenopathy, angioimmunoblastic with dysproteinemia
  • Lymphangiectasies lymphoedema type Hennekam type
  • Lymphangiectasis
  • Lymphangioleiomyomatosis
  • Lymphangiomatosis, pulmonary
  • Lymphangiomyomatosis
  • Lymphatic filariasis
  • Lymphatic neoplasm
  • Lymphedema distichiasis
  • Lymphedema hereditary type 1
  • Lymphedema hereditary type 2
  • Lymphedema ptosis
  • Lymphedema, congenital
  • Lymphedema
  • Lymphedema-Distichiasis syndrome
  • Lymphoblastic lymphoma
  • Lymphocytes reduced or absent
  • Lymphocytic colitis
  • Lymphocytic infiltrate of Jessner
  • Lymphocytic vasculitis
  • Lymphoid hamartoma
  • Lymphoma, AIDS-related
  • Lymphoma, gastric non Hodgkins type
  • Lymphoma, large-cell, immunoblastic
  • Lymphoma, large-cell
  • Lymphoma, small cleaved-cell, diffuse
  • Lymphoma, small cleaved-cell, follicular
  • Lymphoma
  • Lymphomatoid granulomatosis
  • Lymphomatoid papulosis (LyP)
  • Lymphomatous thyroiditis
  • Lymphosarcoma
  • Lynch Lee Murday syndrome
  • Lynch-Bushby syndrome
  • Lyngstadaas syndrome
  • LyP (lymphomatoid papulosis)
  • Lysine alpha-ketoglutarate reductase deficiency
  • Lysinuric protein intolerance
  • Lysosomal alpha-D-mannosidase deficiency
  • Lysosomal beta-mannosidase deficiency
  • Lysosomal disorders
  • Lysosomal glycogen storage disease with normal acid maltase activity