Rare Disease Directory J - L
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- 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
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