Rare Diseases under letter "L"

L1 syndrome [↗]
L-2-hydroxyglutaricaciduria [↗]
LAAHD [↗]
Laband syndrome [↗]
Lacrimo-auriculo-dento-digital syndrome [↗]
Lacrimo-auriculo-radio-dental syndrome [↗]
Lactate dehydrogenase deficiency [↗]
Lactotroph adenoma [↗]
LAD [↗]
LAD-1 variant [↗]
Ladda-Zonana-Ramer syndrome [↗]
LADD syndrome [↗]
LAD-I [↗]
LAD-II [↗]
LAD-III [↗]
LAEB [↗]
Lafora disease [↗]
Lagophthalmia - cleft lip and palate [↗]
Laing distal myopathy [↗]
Laing early-onset distal myopathy [↗]
LAM [↗]
Lambert-Eaton myasthenic syndrome [↗]
Lambert syndrome [↗]
Lamellar cataract [↗]
Lamellar ichthyosis [↗]
Laminopathy type Decaudain-Vigouroux [↗]
Laminopathy with severe metabolic syndrome and myopathy [↗]
LAMM syndrome [↗]
Landau-Kleffner syndrome [↗]
Landing disease [↗]
Landouzy-Dejerine myopathy [↗]
Lane disease [↗]
Langer-Giedion syndrome [↗]
Langerhans cell granulomatosis [↗]
Langerhans cell granulomatosis in childhood and adulthood [↗]
Langerhans cell granulomatosis specific to adulthood [↗]
Langerhans cell granulomatosis specific to childhood [↗]
Langerhans cell histiocytosis [↗]
Langerhans cell histiocytosis in childhood and adulthood [↗]
Langerhans cell histiocytosis specific to adulthood [↗]
Langerhans cell histiocytosis specific to childhood [↗]
Langerhans cell sarcoma [↗]
Langer mesomelic dysplasia [↗]
Laparoschisis [↗]
Laplane-Fontaine-Lagardere syndrome [↗]
LARD syndrome [↗]
Large congenital melanocytic nevus [↗]
Laron-like syndrome [↗]
Laron syndrome [↗]
Laron syndrome with immunodeficiency [↗]
Laron-type dwarfism [↗]
Larsen-like osseous dysplasia - short stature [↗]
Larsen syndrome [↗]
Laryngeal abductor paralysis [↗]
Laryngeal abductor paralysis - intellectual deficit [↗]
Laryngeal and ocular granulation in Indian children [↗]
Laryngeal cyst [↗]
Laryngeal dyskinesia [↗]
Laryngeal dystonia [↗]
Laryngocele [↗]
Laryngo-onycho-cutaneous syndrome [↗]
Laryngotracheal angioma [↗]
Laryngo-tracheo-esophageal cleft [↗]
Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia [↗]
Laryngo-tracheo-esophageal cleft type 0 [↗]
Laryngo-tracheo-esophageal cleft type 1 [↗]
Laryngo-tracheo-esophageal cleft type 2 [↗]
Laryngo-tracheo-esophageal cleft type 3 [↗]
Laryngo-tracheo-esophageal cleft type 4 [↗]
Laryngo-tracheo-esophageal diastema [↗]
Larynx atresia [↗]
Lassa fever [↗]
Late infantile NCL [↗]
Late infantile neuronal ceroid lipofuscinosis [↗]
Late-infantile or juvenile Krabbe disease [↗]
Late-onset autosomal recessive medullary cystic kidney disease [↗]
Late onset benign childhood occipital epilepsy [↗]
Late-onset citrullinemia type 1 [↗]
Late-onset citrullinemia type I [↗]
Late-onset focal dermal elastosis [↗]
Late-onset infantile spasms [↗]
Late-onset isolated ACTH deficiency [↗]
Late-onset junctional epidermolysis bullosa [↗]
Late-onset localized junctional epidermolysis bullosa - intellectual deficit [↗]
Late-onset multiple carboxylase deficiency [↗]
Late-onset retinal degeneration [↗]
Lateralization defect [↗]
Lateral meningocele syndrome [↗]
Laterofacial microsomia [↗]
Lathosterolosis [↗]
Lattice corneal dystrophy type 1 [↗]
Lattice corneal dystrophy type 3a [↗]
Laubry-Pezzi syndrome [↗]
Launois-Bensaude adenolipomatosis [↗]
Laurence-Moon syndrome [↗]
Laurin-Sandrow syndrome [↗]
Lawrence-Seip syndrome [↗]
Lawrence syndrome [↗]
Laxova-Opitz syndrome [↗]
LBSL [↗]
LBWC syndrome [↗]
LCAD [↗]
LCAT deficiency [↗]
LCDD [↗]
LCHAD deficiency [↗]
L-CMD [↗]
LCMN [↗]
L-CPT1 deficiency [↗]
L-CPTI deficiency [↗]
LDD [↗]
Learman syndrome [↗]
Leber hereditary optic neuropathy [↗]
Leber miliary aneurysm [↗]
Leber optic atrophy [↗]
Leber 'plus' disease [↗]
Lecithin-cholesterol acyltransferase deficiency [↗]
Ledderhose disease [↗]
Left renal vein entrapment syndrome [↗]
Left superior caval vein persisting to left-sided atrium [↗]
Left superior vena cava persisting to left-sided atrium [↗]
Left SVC persisting to left-sided atrium [↗]
Left ventricular hypertrabeculation [↗]
Left ventricular noncompaction [↗]
Left ventricular-to-right atrial communication [↗]
Leg duplication - mirror foot [↗]
Legg-Calve-Perthes disease [↗]
Legionellosis [↗]
Legionnaires' disease [↗]
Legius syndrome [↗]
Lehman syndrome [↗]
Leichtman-Wood-Rohn syndrome [↗]
Leigh disease [↗]
Leigh disease with leukodystrophy [↗]
Leigh disease with myopathy [↗]
Leigh disease with nephrotic syndrome [↗]
Leigh syndrome [↗]
Leigh syndrome, French-Canadian type [↗]
Leigh syndrome, Saguenay-Lac-St. Jean type [↗]
Leigh syndrome with leukodystrophy [↗]
Leigh syndrome with myopathy [↗]
Leigh syndrome with nephrotic syndrome [↗]
Leiner disease [↗]
Leiomyomatosis peritonealis disseminate [↗]
Leiomyosarcoma [↗]
Leiomyosarcoma of the cervix uteri [↗]
Leiomyosarcoma of the corpus uteri [↗]
Leipala-Kaitila syndrome [↗]
Leishmaniasis [↗]
Leisti-Hollister-Rimoin syndrome [↗]
Lelis syndrome [↗]
Le Marec-Bracq-Picaud syndrome [↗]
Le Merrer syndrome [↗]
Lemierre syndrome [↗]
Lennox-Gastaut syndrome [↗]
Lenz-Majewski hyperostotic dwarfism [↗]
Lenz microphthalmia [↗]
LEOPARD syndrome [↗]
Leprechaunism [↗]
Leprosy [↗]
Leptomeningeal melanomatosis [↗]
Leptomyelolipoma [↗]
Leptospirosis [↗]
Leri pleonosteosis [↗]
Léri-Weill dyschondrosteosis [↗]
Léri-Weill syndrome [↗]
Lesch-Nyhan syndrome [↗]
Leshima-Koeda-Inagaki syndrome - intellectual deficit [↗]
Lethal acantholytic epidermolysis bullosa [↗]
Lethal arthrogryposis - anterior horn cell disease [↗]
Lethal ataxia with deafness and optic atrophy [↗]
Lethal bone dysplasia, Holmgren type [↗]
Lethal chondrodysplasia, Moerman type [↗]
Lethal chondrodysplasia, Seller type [↗]
Lethal congenital contracture syndrome type 1 [↗]
Lethal congenital contracture syndrome type 2 [↗]
Lethal congenital contracture syndrome type 3 [↗]
Lethal faciocardiomelic dysplasia [↗]
Lethal hemolytic anemia - genital anomalies [↗]
Lethal idiopathic viral infection [↗]
Lethal infantile mitochondrial disease [↗]
Lethal infantile mitochondrial myopathy [↗]
Lethal Kniest-like dysplasia [↗]
Lethal Larsen-like syndrome [↗]
Lethal multiple pterygium syndrome [↗]
Lethal neonatal chondrodysplasia punctata [↗]
Lethal omphalocele-cleft palate syndrome [↗]
Lethal osteosclerotic bone dysplasia [↗]
Lethal polymalformative syndrome, Boissel type [↗]
Lethal popliteal pterygium syndrome [↗]
Lethal recessive chondrodysplasia [↗]
Lethal restrictive dermopathy [↗]
Lethal variant of Simpson-Golabi-Behmel syndrome [↗]
Letterer-Siwe disease [↗]
Leucinosis [↗]
Leukemic Reticuloendotheliosis [↗]
Leukocyte adhesion deficiency [↗]
Leukocyte adhesion deficiency-1 variant [↗]
Leukocyte adhesion deficiency type I [↗]
Leukocyte adhesion deficiency type II [↗]
Leukocyte adhesion deficiency type III [↗]
Leukodystrophy, Reunion type [↗]
Leukodystrophy - spastic paraplegia - dystonia [↗]
Leukodystrophy with oligodontia [↗]
Leukoencephalopathy - ataxia - hypodontia - hypomyelination [↗]
Leukoencephalopathy - dystonia - motor neuropathy [↗]
Leukoencephalopathy - metaphyseal chondrodysplasia [↗]
Leukoencephalopathy - palmoplantar keratoderma [↗]
Leukoencephalopathy with bilateral anterior temporal lobe cysts [↗]
Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation [↗]
Leukoencephalopathy with vanishing white matter [↗]
Leukomelanoderma - intellectual deficit - hypotrichosis [↗]
Leukonychia totalis [↗]
Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair [↗]
Leukonychia totalis - trichilemmal cysts - ciliary dystrophy [↗]
Leukotriene C4 synthase deficiency [↗]
Levic-Stefanovic-Nikolic syndrome [↗]
Levine-Critchley syndrome [↗]
Lev-Lenegre disease [↗]
Levocardia [↗]
Levocardia-situs inversus [↗]
Levo-transposition of the great arteries [↗]
Levy-Hollister syndrome [↗]
Lewandowsky-Lutz syndrome [↗]
Lewis-Pashayan syndrome [↗]
Lewis-Sumner syndrome [↗]
Lewy body dementia [↗]
Leydig cell hypoplasia [↗]
LGMD1A [↗]
LGMD1B [↗]
LGMD1C [↗]
LGMD1D [↗]
LGMD1E [↗]
LGMD1F [↗]
LGMD1G [↗]
LGMD1H [↗]
LGMD2A [↗]
LGMD2B [↗]
LGMD2C [↗]
LGMD2D [↗]
LGMD2E [↗]
LGMD2F [↗]
LGMD2G [↗]
LGMD2H [↗]
LGMD2I [↗]
LGMD2J [↗]
LGMD2K [↗]
LGMD2L [↗]
LGMD2M [↗]
LGMD2N [↗]
LGMD2O [↗]
LGMD2Q [↗]
LHCDD [↗]
Lhermitte-Duclos disease [↗]
LHON [↗]
LH resistance due to complete LH receptor inactivation [↗]
LH resistance due to LH receptor inactivation [↗]
LH resistance due to partial LH receptor inactivation [↗]
LI [↗]
Lichen amyloidosis [↗]
Lichen follicularis [↗]
Lichenoid melanodermatitis [↗]
Lichen planopilaris [↗]
Lichen plan pigmentosa [↗]
Lichen planus actinus [↗]
Lichen planus follicularis [↗]
Lichen planus pemphigoides [↗]
Lichen planus pigmentosus [↗]
Lichen planus pigmentosus inversus [↗]
Lichen planus subtropicus [↗]
Lichen planus tropicus [↗]
Lichstenstein syndrome [↗]
Liddle syndrome [↗]
Li-Fraumeni syndrome [↗]
LIG4 syndrome [↗]
Ligase 4 syndrome [↗]
Light and heavy chain deposition disease [↗]
Light chain deposition disease [↗]
Ligneous conjunctivitis [↗]
Limb body wall complex [↗]
Limb dystonia [↗]
Limb girdle dystrophy with epidermolysis bullosa simplex [↗]
Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency [↗]
Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency [↗]
Limb girdle muscular dystrophy due to calpain deficiency [↗]
Limb-girdle muscular dystrophy due to calveolin-3 deficiency [↗]
Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency [↗]
Limb-girdle muscular dystrophy due to dysferlin deficiency [↗]
Limb girdle muscular dystrophy due to FKRP deficiency [↗]
Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency [↗]
Limb-girdle muscular dystrophy due to lamin A/C deficiency [↗]
Limb-girdle muscular dystrophy due to myotilin deficiency [↗]
Limb girdle muscular dystrophy due to telethonin deficiency [↗]
Limb-girdle muscular dystrophy due to TRIM32 deficiency [↗]
Limb-girdle muscular dystrophy - intellectual deficit [↗]
Limb-girdle muscular dystrophy with Paget disease of bone [↗]
Limbic encephalitis [↗]
Limbic encephalitis associated with NMDA receptor antibodies [↗]
Limbic encephalitis associated with N-methyl-D-aspartate receptor antibodies [↗]
Limbic encephalitis - neuromyotonia - hyperhidrosis - polyneuropathy [↗]
Limbic encephalitis with caspr2 antibodies [↗]
Limbic encephalitis, with nCMAgs antibodies [↗]
Limbic encephalitis, with novel Cell Membrane Antigens antibodies [↗]
Limbic encephalitis with VGKC antibodies [↗]
Limbic encephalitis with voltage-gated potassium channel antibodies [↗]
Limb-mammary syndrome [↗]
Limb, scalp and skull defects [↗]
Limb transversal defect - cardiac anomaly [↗]
LIMD [↗]
Limit dextrinosis [↗]
Limited cutaneous systemic scleroderma [↗]
Limited cutaneous systemic sclerosis [↗]
Limited systemic sclerosis [↗]
LINCL [↗]
Lindau disease [↗]
Lindsay-Burn syndrome [↗]
Linear and whorled nevoid hypermelanosis [↗]
Linear atrophoderma of Moulin [↗]
Linear focal dermal elastosis [↗]
Linear hamartoma syndrome [↗]
Linear IgA dermatosis [↗]
Linear inflammatory verrucous epidermal nevus [↗]
Linear lichen planus [↗]
Linear LP [↗]
Linear nevus sebaceus syndrome [↗]
Linear verrucous nevus syndrome [↗]
Linitis plastica of the stomach [↗]
Lipedema [↗]
Lipidosis with triglyceride storage disease [↗]
Lipoamide dehydrogenase deficiency [↗]
Lipoatrophic diabetes [↗]
Lipoblastoma [↗]
Lipodystrophy due to peptidic growth factors deficiency [↗]
Lipodystrophy-HIV related [↗]
Lipodystrophy in Human Immunodeficiency Virus-infected patients [↗]
Lipodystrophy - intellectual deficit - deafness [↗]
Lipodystrophy - Rieger anomaly - diabetes [↗]
Lipoid dermatoarthritis [↗]
Lipoid proteinosis [↗]
Lipomatosis dolorosa [↗]
Lipomatous mesenteritis [↗]
Lipomucopolysaccharidosis [↗]
Lipomyelomeningocele [↗]
Lipoprotein lipase deficiency [↗]
Liposarcoma [↗]
Liposclerotic mesenteritis [↗]
Lipoyl-containing pyruvate dehydrogenase complex component X deficiency [↗]
Lip-pit syndrome [↗]
Lisker-Garcia-Ramos syndrome [↗]
Lison syndrome [↗]
Lissencephaly due to 17p13.3 deletion [↗]
Lissencephaly due to LIS1 mutation [↗]
Lissencephaly due to TUBA1A mutation [↗]
Lissencephaly syndrome, Norman-Roberts type [↗]
Lissencephaly type 1 due to doublecortin gene mutation [↗]
Lissencephaly type 3 - familial fetal akinesia sequence [↗]
Lissencephaly type 3 - metacarpal bone dysplasia [↗]
Lissencephaly with cerebellar hypoplasia type A [↗]
Lissencephaly with cerebellar hypoplasia type B [↗]
Lissencephaly with cerebellar hypoplasia type C [↗]
Lissencephaly with cerebellar hypoplasia type D [↗]
Lissencephaly with cerebellar hypoplasia type E [↗]
Lissencephaly with cerebellar hypoplasia type F [↗]
Listeriosis [↗]
Little syndrome [↗]
Liver disease - retinitis pigmentosa - polyneuropathy - epilepsy [↗]
Liver glycogen phosphorylase deficiency [↗]
Liver glycogen synthase deficiency [↗]
Liver phosphorylase deficiency [↗]
LM [↗]
LMNA-related congenital muscular dystrophy [↗]
LMS [↗]
Lobar atrophy of brain [↗]
Lobar holoprosencephaly [↗]
Lobstein disease [↗]
Lobster-claw deformity [↗]
Localised lichen myxedematosus [↗]
Localised lichen myxedematosus with mixed features of different subtypes [↗]
Localised lichen myxedematosus with monoclonal gammopathy or systemic symptoms [↗]
Localized acanthokeratolytic palmoplantar hyperkeratosis [↗]
Localized Castleman disease [↗]
Localized deciduous skin [↗]
Localized epidermolytic palmoplantar hyperkeratosis [↗]
Localized epiphyseal dysplasia [↗]
Localized fibrosing scleroderma [↗]
Localized junctional epidermolysis bullosa, non-Herlitz type [↗]
Localized pagetoid reticulosis [↗]
Localized peeling skin syndrome [↗]
Localized pustular psoriasis [↗]
Localized scleroderma [↗]
Locked-in syndrome [↗]
Loeffler's endocarditis [↗]
Loeys-Dietz syndrome [↗]
Loffredo-Cennamo-Cecio syndrome [↗]
LOGIC syndrome [↗]
Logopenic primary progressive aphasia [↗]
Logopenic progressive aphasia [↗]
Logopenic variant PPA [↗]
Loiasis [↗]
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency [↗]
Long chain Acyl-CoA dehydrogenase deficiency [↗]
Long eyelashes - intellectual deficit [↗]
Longitudinal vaginal septum [↗]
Longman-Tolmie syndrome [↗]
Long QT interval - deafness [↗]
Long QT syndrome - syndactyly [↗]
Long QT syndrome type 8 [↗]
Loose anagen syndrome [↗]
Lopes-Gorlin syndrome [↗]
Lopes-Marques de Faria syndrome [↗]
Lopez-Hernandez syndrome [↗]
LORD [↗]
Loricrin keratoderma [↗]
Lou-Gehrig disease [↗]
Louis-Bar syndrome [↗]
Low birth weight - dwarfism - dysgammaglobulinemia [↗]
Lowe disease [↗]
Lowe-Kohn-Cohen syndrome [↗]
Lowe oculo-cerebro-renal syndrome [↗]
Lower limb deficiency - hypospadias [↗]
Lower lip fistula [↗]
Lower motor neuron syndrome with late-adult onset [↗]
Lowe syndrome [↗]
Low-flow priapism [↗]
Low grade ependymoma [↗]
Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis [↗]
Lown-Ganong-Levine syndrome [↗]
Low phospholipid associated cholelithiasis [↗]
Lowry-MacLean syndrome [↗]
Lowry syndrome [↗]
Lowry-Wood syndrome [↗]
Lowry-Yong syndrome [↗]
LPA [↗]
LPD [↗]
LPI [↗]
LPP [↗]
LPP [↗]
LP pemphigoides [↗]
LP pigmentosa [↗]
LP pigmentosus [↗]
LQT7 [↗]
LQT8 [↗]
LTC4 synthase deficiency [↗]
LTEC0 [↗]
L-transposition of the great arteries [↗]
Lubag [↗]
Lubani-Al Saleh-Teebi syndrome [↗]
Lubinsky syndrome [↗]
Lubs-Arena Syndrome [↗]
Lucey driscoll syndrome [↗]
Lujan-Fryns syndrome [↗]
Lumbar malsegmentation - short stature [↗]
Lumbosacral spina bifida aperta [↗]
Lumbosacral spina bifida cystica [↗]
Lunatomalacia [↗]
Lundberg syndrome [↗]
Lung agenesis - heart defect - thumb anomalies [↗]
Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis [↗]
Lupus erythematosus panniculitis [↗]
Lupus erythematosus profundus [↗]
Lupus erythematosus tumidus [↗]
Luteinizing hormone-releasing hormone deficiency with ataxia [↗]
Lutz-Lewandowsky epidermodysplasia verruciformis [↗]
Lutz-Richner-Landolt syndrome [↗]
Lyell syndrome [↗]
Lyme borreliosis [↗]
Lyme disease [↗]
Lymphangioleiomyomatosis [↗]
Lymphangioma [↗]
Lymphatic filariasis [↗]
Lymphatic malformation [↗]
Lymphedema - atrial septal defects - facial changes [↗]
Lymphedema - cerebral arteriovenous anomaly [↗]
Lymphedema - cleft palate [↗]
Lymphedema - distichiasis [↗]
Lymphedema - hydrocele - cardiac defects [↗]
Lymphedema - hypoparathyroidism [↗]
Lymphedema - lymphangiectasia - intellectual deficit [↗]
Lymphedema praecox [↗]
Lymphedema - ptosis [↗]
Lymphedema tarda [↗]
Lymphedema - yellow nails [↗]
Lymphocyte-depleted classical Hodgkin lymphoma [↗]
Lymphocyte-rich classical Hodgkin lymphoma [↗]
Lymphocytic colitis [↗]
Lymphoid interstitial pneumonia [↗]
Lymphomatoid granulomatosis [↗]
Lymphomatoid papulosis [↗]
Lymphoplasmacytic lymphoma [↗]
Lymphoplasmacytic sclerosing pancreatitis [↗]
Lynch-Lee-Murday syndrome [↗]
Lynch syndrome [↗]
Lyngstadaas syndrome [↗]
Lysine alpha-ketoglutarate reductase deficiency [↗]
Lysinuric protein intolerance [↗]
Lysosomal acid lipase deficiency [↗]
Lysosomal alpha-D-mannosidase deficiency [↗]
Lysosomal glycogen storage disease with normal acid maltase activity [↗]
Lysozyme amyloidosis [↗]
Lytico-bodig disease [↗]