Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Diseases Beginning With L

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.

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.
Is Rare Condition? Disease Name
* L-2-hydroxyglutaric acidemia - See L-2-hydroxyglutaric aciduria
* L-2-hydroxyglutaric aciduria
* La Crosse encephalitis
* Laband syndrome
* LABD - See Vocal cord dysfunction familial
* Labile diabetes - See Brittle diabetes
* Labrador lung
* Labyrinthine fistula - See Perilymphatic fistula
* LACH - See Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema
* Lachiewicz Sibley syndrome
* Lack of subcutaneous tissue arthritis skeletal dysplasia - See Lockwood Feingold syndrome
* Lacrimoauriculodento-digital syndrome - See Lacrimo-auriculo-dento-digital syndrome
* Lacrimo-auriculo-dento-digital syndrome
* Lactate dehydrogenase A deficiency
* Lactate dehydrogenase B deficiency
* Lactate dehydrogenase deficiency
* Lactate dehydrogenase deficiency type A - See Lactate dehydrogenase A deficiency
* Lactate dehydrogenase deficiency type B - See Lactate dehydrogenase B deficiency
* Lactate dehydrogenase deficiency type C
* Lactation and squamous metaplasia of lactiferous ducts - See Zuska's disease
* Lacteal cyst - See Galactocele
* Lactic acidemia with pyruvate dehydrogenase phosphatase deficiency - See Pyruvate dehydrogenase phosphatase deficiency
* Lactic acidosis congenital infantile
* Lactiferous fistula - See Zuska's disease
* Lactobezoar
* Lactocele - See Galactocele
* Lactoferrin-deficient neutrophils - See Neutrophil-specific granule deficiency
* LAD - See Leukocyte adhesion deficiency type 1
* LAD - See Linear IgA disease
* LAD 1 - See Leukocyte adhesion deficiency type 1
* LAD2 - See Congenital disorder of glycosylation type 2C
* LADD syndrome - See Lacrimo-auriculo-dento-digital syndrome
* Ladda Zonana Ramer syndrome - See Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
* Lafer Davis syndrome - See Davis Lafer syndrome
* Lafora body disorder - See Lafora disease
* Lafora disease
* Lagophthalmia cleft lip palate
* Lagophthalmia with bilateral cleft lip and palate - See Ectropion inferior cleft lip and or palate
* Laing distal myopathy
* Laing early-onset distal myopathy - See Laing distal myopathy
* LAL deficiency - See Lysosomal acid lipase deficiency
* LAM - See Lymphangioleiomyomatosis
* LAMA2-related muscular dystrophy - See Congenital muscular dystrophy type 1A
* LAMB syndrome - See Carney complex
* Lambdoid synostosis
* Lambert Eaton myasthenic syndrome
* Lambert Eaton syndrome - See Lambert Eaton myasthenic syndrome
* Lambert syndrome
* Lambert type ichthyosis - See Ichthyosis hystrix gravior
* Lambotte syndrome - See Microcephaly, holoprosencephaly, and intrauterine growth retardation
* Lamellar exfoliation of newborn - See Ichthyosis lamellar 1
* Lamellar ichthyosis
* Lamellar ichthyosis, autosomal dominant - See Ichthyosis lamellar, autosomal dominant
* Lamellar ichthyosis, type 1 - See Ichthyosis lamellar 1
* Lamellar ichthyosis, type 2 - See Ichthyosis lamellar 2
* Lamellar ichthyosis, type 3 - See Ichthyosis lamellar 3
* Laminin alpha-2 deficiency - See Congenital muscular dystrophy type 1A
* LAMM syndrome - See Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
* Landau-Kleffner syndrome
* Landouzy-Dejerine muscular dystrophy - See Facioscapulohumeral muscular dystrophy
* Landry-Guillain-Barre-Strohl syndrome - See Guillain-Barre syndrome
* Landry's ascending paralysis - See Guillain-Barre syndrome
* Landy-Donnai syndrome
* Langer Giedion Syndrome - See Trichorhinophalangeal syndrome type 2
* Langer mesomelic dysplasia
* Langer Nishino Yamaguchi syndrome
* Langerhans cell histiocytosis
* Langerhans cell sarcoma
* Langer-Saldino achondrogenesis - See Achondrogenesis type 2
* Laparoschisis
* Laplane Fontaine Lagardere syndrome
* LAPS syndrome - See Myhre syndrome
* Large B cell diffuse lymphoma
* Large cell immunoblastic lymphoma - See Lymphoma, large-cell, immunoblastic
* Large cell lymphoma - See Lymphoma, large-cell
* Large congenital melanocytic nevus - See Giant congenital nevus
* Large granular lymphocyte leukemia
* Large gyri of cerebrum - See Pachygyria
* Large pulp chambers in the molars - See Taurodontism
* Large vestibular aqueduct syndrome - See Enlarged vestibular aqueduct syndrome
* Large-intestinal infection with Balantidium coli - See Balantidiasis
* L-arginine:glycine amidinotransferase deficiency - See AGAT deficiency
* Laron dwarfism - See Laron syndrome
* Laron syndrome
* Laron syndrome due to postreceptor defect - See Growth hormone insensitivity with immunodeficiency
* Laron type pituitary dwarfism I - See Laron syndrome
* Larsen syndrome
* Larsen-like multiple joint dislocation syndrome - See Larsen-like syndrome
* Larsen-like syndrome
* Larsen-like syndrome, lethal type - See Larsen-like syndrome
* Laryngeal abductor paralysis - See Vocal cord dysfunction familial
* Laryngeal abductor paralysis mental retardation
* Laryngeal and pharyngeal hypoplasia with omphalocele - See Shprintzen omphalocele syndrome
* Laryngeal cancer
* Laryngeal cancer, childhood
* Laryngeal carcinoma - See Laryngeal cancer
* Laryngeal cleft
* Laryngeal dyskinesia - See Spasmodic dysphonia
* Laryngeal dystonia - See Spasmodic dysphonia
* Laryngeal papilloma, recurrent - See Recurrent respiratory papillomatosis
* Laryngeal papillomatosis
* Laryngeal web, congenital heart disease and low stature - See Gay Feinmesser Cohen syndrome
* Laryngocele
* Laryngomalacia
* Laryngomalacia congenital - See Laryngomalacia
* Laryngoonychocutaneous syndrome
* Laryngo-onycho-cutaneous syndrome - See Laryngoonychocutaneous syndrome
* Laryngotracheal stenosis, arthropathy, prognathism, and short stature - See Myhre syndrome
* Laryngotracheoesophageal cleft pulmonary hypoplasia - See Novak syndrome
* Larynx atresia
* Larynx, congenital partial atresia of
* Lassueur-Graham-Little syndrome
* Late onset Alzheimer disease - See Alzheimer disease type 2
* Late onset familial Alzheimer disease - See Alzheimer disease type 2
* Late onset scleroatonic familial myopathy (subtype) - See Ullrich congenital muscular dystrophy
* Late onset tylosis (type A) - See Tylosis
* Late-onset biotin-responsive multiple carboxylase deficiency - See Biotinidase deficiency
* Late-onset congenital adrenal hyperplasia
*   Late-onset Fuchs endothelial corneal dystrophy - See Corneal dystrophy Fuchs endothelial 2
* Late-onset group B strep disease in newborns - See Group B strep disease in newborns
* Late-onset multiple carboxylase deficiency - See Biotinidase deficiency
* Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration - See Deafness, autosomal dominant nonsyndromic sensorineural 17
* Lateral body wall defect
* Lateral facial cleft, cleft lip and palate, anophthalmia, microtia, clavicular agenesis and asternia - See Samson Viljoen syndrome
* Lateral femoral cutaneous nerve entrapment - See Meralgia paresthetica
* Lateral medullary syndrome - See Wallenberg syndrome
* Lateral meningocele syndrome
* Lateral semicircular canal malformation, familial, with external and middle ear abnormalities
* Laterality defects dominant
* Laterality, X-linked - See X-linked visceral heterotaxy 1
* Lateralization defect - See Heterotaxy
* Lathosterolosis
* Lathyrism
* Lattice corneal dystrophy type 1
* Lattice corneal dystrophy type 3A
* Lattice corneal dystrophy type II Finnish - See Familial amyloidosis, Finnish type
* Lattice corneal dystrophy type III A - See Lattice corneal dystrophy type 3A
* Lattice corneal dystrophy type3 - See Amyloidosis corneal
* Laugier and Hunziker pigmentation - See Laugier-Hunziker syndrome
* Laugier-Hunziker syndrome
* Launois-Bensaude syndrome - See Madelung disease
* Laurence Moon Bardet Biedl syndrome - See Bardet-Biedl syndrome
* Laurence Moon syndrome - See Bardet-Biedl syndrome
* Laurence Prosser Rocker syndrome
* Laurin Sandrow syndrome - See Laurin-Sandrow syndrome
* Laurin-Sandrow syndrome
* Laxova Brown Hogan syndrome - See Parkinsonism, early onset with mental retardation
* LCA - See Leber congenital amaurosis
* LCA1 - See Leber congenital amaurosis 1
* LCA10 - See Leber congenital amaurosis 10
* LCA11 - See Leber congenital amaurosis 11
* LCA12 - See Leber congenital amaurosis 12
* LCA13 - See Leber congenital amaurosis 13
* LCA14 - See Leber congenital amaurosis 14
* LCA15 - See Leber congenital amaurosis 15
* LCA16 - See Leber congenital amaurosis 16
* LCA2 - See Leber congenital amaurosis 2
* LCA3 - See Leber congenital amaurosis 3
* LCA4 - See Leber congenital amaurosis 4
* LCA5 - See Leber congenital amaurosis 5
* LCA6 - See Leber congenital amaurosis 6
* LCA7 - See Leber congenital amaurosis 7
* LCA8 - See Leber congenital amaurosis 8
* LCA9 - See Leber congenital amaurosis 9
* LCAD deficiency
* LCAT deficiency - See Norum disease
* LCATA deficiency - See Fish-eye disease
* LCC - See Leukoencephalopathy, cerebral calcifications, and cysts
* LCCS - See Lethal congenital contracture syndrome 1
* LCCS2 - See Lethal congenital contracture syndrome 2
* LCD1 - See Lattice corneal dystrophy type 1
* LCH - See Langerhans cell histiocytosis
* LCHAD deficiency
* LCPD - See Legg-Calve-Perthes disease
* L-CPT 1 deficiency - See Carnitine palmitoyl transferase 1 deficiency
* LCS - See Aagenaes syndrome
* LCS1 - See Aagenaes syndrome
* LDH deficiency B - See Lactate dehydrogenase B deficiency
* LDHBD - See Lactate dehydrogenase B deficiency
* LDHCP - See Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules
*   LDL receptor disorder - See Hypercholesterolemia, autosomal dominant
* LDS1A - See Loeys-Dietz syndrome type 1A
* LDS1B - See Loeys-Dietz syndrome type 1B
* LDS2A - See Loeys-Dietz syndrome type 2A
* LDS2B - See Loeys-Dietz syndrome type 2B
* LDS3 - See Loeys-Dietz syndrome type 3
* LDYT - See Leber hereditary optic neuropathy with dystonia
* Le Marec Bracq Picaud syndrome
* Le Merrer syndrome - See 3M syndrome
* Leaky Red cell syndrome - See Red cell phospholipid defect with hemolysis
* Lean spastic dwarfism - See Coffin syndrome 1
* Learman syndrome - See Symphalangism with multiple anomalies of hands and feet
* 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 congenital amaurosis type 1 - See Leber congenital amaurosis 1
* Leber congenital amaurosis type 10 - See Leber congenital amaurosis 10
* Leber congenital amaurosis type 11 - See Leber congenital amaurosis 11
* Leber congenital amaurosis type 12 - See Leber congenital amaurosis 12
* Leber congenital amaurosis type 2 - See Leber congenital amaurosis 2
* Leber congenital amaurosis type 3 - See Leber congenital amaurosis 3
* Leber congenital amaurosis type 4 - See Leber congenital amaurosis 4
* Leber congenital amaurosis type 5 - See Leber congenital amaurosis 5
* Leber congenital amaurosis type 6 - See Leber congenital amaurosis 6
* Leber congenital amaurosis type 9 - See Leber congenital amaurosis 9
* Leber hereditary optic neuropathy
* Leber hereditary optic neuropathy with dystonia
* Leber miliary aneurysm
* Leber optic atrophy - See Leber hereditary optic neuropathy
* Leber optic atrophy and dystonia - See Leber hereditary optic neuropathy with dystonia
* Leber’s disease - See Leber hereditary optic neuropathy
* Leber's amaurosis - See Leber congenital amaurosis
* Leber's congenital tapetoretinal degeneration - See Leber congenital amaurosis
* Leber's congenital tapetoretinal dysplasia - See Leber congenital amaurosis
* Leber's hereditary optic neuropathy with dystonia - See Leber hereditary optic neuropathy with dystonia
* Leber's miliary aneurysm - See Leber miliary aneurysm
* Lecithin cholesterol acyltransferase deficiency - See Norum disease
* Ledderhose disease
* Lederhose disease - See Ledderhose disease
*   Left renal vein entrapment syndrome - See Renal nutcracker syndrome
* Left ventricular hypertrabeculation - See Left ventricular noncompaction
* Left ventricular noncompaction
* Left ventricular transient apical ballooning - See Stress cardiomyopathy
* Left-sided gallbladder
* Leg absence deformity cataract
* Legg-Calve-Perthes disease
* Legg-Calve-Perthes syndrome - See Legg-Calve-Perthes disease
* Legionella infection - See Legionellosis
* Legionellosis
* Legionnaire's disease - See Legionellosis
* Legius syndrome
* Lehman syndrome - See Lateral meningocele syndrome
* Leichtman Wood Rohn syndrome - See Anophthalmia plus syndrome
* Leigh disease, maternally inherited - See Maternally inherited Leigh syndrome
* Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency - See Pyruvate carboxylase deficiency
* Leigh syndrome
* Leigh syndrome due to pyruvate carboxylase deficiency - See Pyruvate carboxylase deficiency
* Leigh syndrome, French Canadian type
* Leigh syndrome, Saguenay Lac saint Jean type - See Leigh syndrome, French Canadian type
* Leigh's disease - See Leigh syndrome
* Leigh's necrotizing encephalopathy - See Leigh syndrome
* Leiner disease
* Leiner-Moussous Desquamative Erythroderma - See Erythroderma desquamativa of Leiner
* Leiomyoma of vulva and esophagus
* Leiomyomatosis familial
* Leiomyomatosis of esophagus, cataract and hematuria
* Leiomyomatosis, esophageal and vulval, with nephropathy
* Leiomyomatosis, esophagogastric and vulvar - See Leiomyoma of vulva and esophagus
* Leiomyosarcoma
* Leipala Kaitila syndrome - See Lumbar malsegmentation short stature
* Leishmaniasis
* Leisti Hollister Rimoin syndrome
* Lelis syndrome
* Lemierre syndrome
* Lemming fever - See Tularemia
* LEMS - See Lambert Eaton myasthenic syndrome
* Lennox-Gastaut syndrome
* Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, Deafnes - See LEOPARD syndrome
* Lentiginosis, perioral - See Peutz Jeghers syndrome
* Lentigo maligna melanoma
* Lenz dysplasia - See Lenz microphthalmia syndrome
* Lenz Majewski hyperostotic dwarfism
* Lenz microphthalmia syndrome
* Lenz-Majewski hyperostotic dysplasia - See Lenz Majewski hyperostotic dwarfism
* Lenz-Majewski syndrome - See Lenz Majewski hyperostotic dwarfism
* LEOPARD syndrome
* Leprechaunism
* Leprosy - See Hansen's disease
* Leptomeningeal angiomatosis - See Sturge-Weber syndrome
* Leptomeningeal capillary - venous angiomatosis - See Angiomatosis, leptomeningeal capillary venous
* Leptospirosis
* Leri pleonosteosis
* Leri type pleonosteosis - See Leri pleonosteosis
* Leri Weill dyschondrosteosis
* Leri's pleonosteosis - See Leri pleonosteosis
* Léri-Weill dyschondrosteosis - See Leri Weill dyschondrosteosis
* Leroy Disease - See I cell disease
* Lesch Nyhan syndrome
* Lesch-Nyhan syndrome - See Lesch Nyhan syndrome
* Lethal acrodysgenital syndrome - See Smith-Lemli-Opitz syndrome
* Lethal ataxia with deafness and optic atrophy - See Arts syndrome
* Lethal ataxia-deafness-optic atrophy - See Arts syndrome
* Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system - See Arthrogryposis multiplex congenita whistling face
* Lethal autosomal recessive syndrome of multiple congenital contractures - See Lethal congenital contracture syndrome 1
* Lethal chondrodysplasia Moerman type
* Lethal chondrodysplasia Seller type
* Lethal congenital contracture syndrome 1
* Lethal congenital contracture syndrome 2
* Lethal congenital erythroderma - See Erythroderma lethal congenital
*   Lethal congenital glycogen storage disease of the heart
* Lethal congenital neutropenia with eosinophilia - See Neutropenia lethal congenital with eosinophilia
* Lethal Kniest-like dysplasia - See Kniest like dysplasia lethal
* Lethal metaphyseal dysplasia - See Spondylometaphyseal dysplasia Sedaghatian type
* Lethal multiple pterygium syndrome - See Multiple pterygium syndrome lethal type
* Lethal neonatal short limb dwarfism - See Lethal short limb skeletal dysplasia Al Gazali type
* Lethal omphalocele-cleft palate syndrome - See Omphalocele cleft palate syndrome lethal
* Lethal osteosclerotic bone dysplasia - See Raine syndrome
* Lethal short limb skeletal dysplasia Al Gazali type
* Lethal short-limb dwarfism, McAlister-Crane type
* Lethal short-limbed platyspondylic dwarfism Torrance type - See Platyspondylic lethal skeletal dysplasia Torrance type
* Letterer-Siwe disease (formerly) - See Langerhans cell histiocytosis
* Leucine-sensitive hypoglycemia of infancy
* Leucocyte adhesion defect
* Leukemia acute myelogenous - See Acute myeloid leukemia, adult
* Leukemia subleukemic
* Leukemia, B cell prolymphocytic - See B cell prolymphocytic leukemia
* Leukemia, B-cell, chronic
* Leukemia, chronic myeloid - See Chronic myeloid leukemia
* Leukemia, juvenile myelomonocytic - See Juvenile myelomonocytic leukemia
* Leukemia, lymphocytic, chronic - See Chronic lymphocytic leukemia
* Leukemia, Myeloid
* Leukemia, myelomonocytic, chronic - See Chronic myelomonocytic leukemia
* Leukemia, plasma cell - See Plasma cell leukemia
* Leukemia, T-cell, chronic
* Leukemic reticuloendotheliosis - See Hairy cell leukemia
* Leukocyte adhesion deficiency type 1
* Leukocyte adhesion deficiency type 2 - See Congenital disorder of glycosylation type 2C
* Leukocytoclastic angiitis - See Hypersensitivity vasculitis
* Leukoderma acquisitum centrifugum of Sutton - See Halo nevi
* Leukodystrophy
* Leukodystrophy metachromatic - See Metachromatic leukodystrophy
* Leukodystrophy reunion type
* Leukodystrophy with oligodontia
* Leukodystrophy, demyelinating, adult-onset, autosomal dominant - See Pelizaeus-Merzbacher disease, late-onset type
* Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia
* Leukodystrophy, hypomyelinating 3
* Leukodystrophy, hypomyelinating, 5 - See Hypomyelination and congenital cataract
* Leukodystrophy, hypomyelinating, 6 - See Hypomyelination with atrophy of basal ganglia and cerebellum
* Leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum - See Hypomyelination with atrophy of basal ganglia and cerebellum
* Leukodystrophy, pseudometachromatic
* Leukoencephalopathy palmoplantar keratoderma
* Leukoencephalopathy with swelling and cysts - See Megalencephalic leukoencephalopathy with subcortical cysts
* Leukoencephalopathy with vanishing white matter
* Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema
* Leukoencephalopathy, cerebral calcifications, and cysts
* Leukoencephalopathy, diffuse hereditary, with spheroids - See Hereditary diffuse leukoencephalopathy with spheroids
* Leukoencephalopathy, progressive multifocal - See Progressive multifocal leukoencephalopathy
* Leukokeratosis, hereditary mucosal - See White sponge nevus of cannon
* Leukomalacia
* Leukomelanoderma mental redardation hypotrichosis
* Leukonychia totalis
* Leukonychia totalis multiple sebaceous cysts renal calculi - See Gorlin Bushkell Jensen syndrome
* Leukopenia benign familial - See Neutropenia chronic familial
* Leukoplakia
* Levator ani spasm syndrome - See Levator syndrome
* Levator ani syndrome - See Levator syndrome
* Levator syndrome
* Levic Stefanovic Nikolic syndrome
* Levin syndrome 1 - See Cranioectodermal dysplasia
* Levin syndrome 2 - See Osteogenesis imperfecta Levin type
* Levotransposition of the great arteries
* Levy Hollister syndrome - See Lacrimo-auriculo-dento-digital syndrome
* Levy Yeboa syndrome - See Levy-Yeboa syndrome
* Levy-Yeboa syndrome
* Lewandowsky-Lutz syndrome - See Epidermodysplasia verruciformis
* Lewy body dementia
* Lewy body disease - See Lewy body dementia
* Leyden-Moebius muscular dystrophy - See Limb-girdle muscular dystrophy, type 2A
* Leydig cells hypoplasia
* LFA 1 immunodeficiency - See Leukocyte adhesion deficiency type 1
* LFS1 - See Li-Fraumeni syndrome
* LGL leukemia - See Large granular lymphocyte leukemia
* LGMD- autosomal recessive - See Limb-girdle muscular dystrophy
* LGMD1 - See Limb-girdle muscular dystrophy, type 1A
* LGMD1A - See Limb-girdle muscular dystrophy, type 1A
* LGMD1B - See Limb-girdle muscular dystrophy, type 1B
* LGMD2 - See Limb-girdle muscular dystrophy, type 2A
* LGMD2A - See Limb-girdle muscular dystrophy, type 2A
* LGMD2B - See Limb-girdle muscular dystrophy, type 2B
* LGMD2C - See Limb-girdle muscular dystrophy, type 2C
* LGMD2D - See Limb-girdle muscular dystrophy, type 2D
* LGMD2E - See Limb-girdle muscular dystrophy type 2E
* LGMD2F - See Limb-girdle muscular dystrophy type 2F
* LGMD2G - See Limb-girdle muscular dystrophy, type 2G
* LGMD2H - See Limb-girdle muscular dystrophy type 2H
* LGMD3 - See Limb-girdle muscular dystrophy, type 2B
* LGS - See Trichorhinophalangeal syndrome type 2
* LGV - See Lymphogranuloma venereum
* LH - See Lymphocytic hypophysitis
* Lhermitte-Duclos disease
* LHON - See Leber hereditary optic neuropathy
* LHON and dystonia - See Leber hereditary optic neuropathy with dystonia
* LHRH deficiency and ataxia - See Cerebellar ataxia and hypogonadotropic hypogonadism
* LHS - See Laugier-Hunziker syndrome
* LI1 - See Ichthyosis lamellar 1
* LI2 - See Ichthyosis lamellar 2
* Lichen amyloidosis familial - See Amyloidosis primary cutaneous
* Lichen myxedematosus - See Papular mucinosis
* Lichen myxoedematosus - See Papular mucinosis
* Lichen planopilaris - See Lichen planus follicularis
* Lichen planus follicularis
* Lichen planus pigmentosa - See Lichen planus pigmentosus
* Lichen planus pigmentosus
* Lichen planus pigmentosus inversus - See Lichen planus pigmentosus
* Lichen sclerosis - See Lichen sclerosus
* Lichen sclerosis et atrophicus - See Lichen sclerosus
* Lichen sclerosus
* Lichen sclerosus et atrophicus - See Lichen sclerosus
* Lichtenstein syndrome
* Liddle syndrome
* Liddle's syndrome - See Liddle syndrome
* Li-Fraumeni syndrome
* Light chain amyloidosis - See AL amyloidosis
* Light chain deposition disease
* Light-chain deposition disease - See Light chain deposition disease
* Limb body wall complex - See Limb-body wall complex
* Limb deficiencies distal with micrognathia
* Limb deficiency-heart malformation syndrome - See Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
* Limb dystonia
* Limb girdle muscular dystrophy - See Limb-girdle muscular dystrophy
* Limb reduction defect
* Limb scalp and skull defects - See Adams Oliver syndrome
* Limb uterus syndrome - See Hypomelia mullerian duct anomalies
* Limb-body wall complex
* Limb-girdle muscular dystrophy
* Limb-girdle muscular dystrophy autosomal recessive - See Limb-girdle muscular dystrophy
* Limb-girdle muscular dystrophy type 2 - See Limb-girdle muscular dystrophy, type 2A
* Limb-girdle muscular dystrophy type 2E
* Limb-girdle muscular dystrophy type 2F
* Limb-girdle muscular dystrophy type 2H
* Limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency - See Limb-girdle muscular dystrophy, type 2C
* Limb-girdle muscular dystrophy with Paget disease of bone - See Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
* 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
* Limit dextrinosis - See Glycogen storage disease type 3
* Limited cutaneous systemic scleroderma - See Limited scleroderma
* Limited scleroderma
* Linear and whorled hypermelanosis - See Linear and whorled nevoid hypermelanosis
* Linear and whorled nevoid hypermelanosis
* Linear hamartoma syndrome
* Linear IgA bullous dermatosis - See Linear IgA disease
* Linear IgA dermatosis - See Linear IgA disease
* Linear IgA disease
* Linear immunoglobulin A (IgA) dermatosis - See Linear IgA disease
* Linear lichen planus
* Linear LP - See Linear lichen planus
* Linear nevus sebaceous syndrome
* Linear porokeratosis
* Linear scleroderma
* Linear skin atrophy, scarring alopecia, anonychia, and tongue lesion - See Sequeiros Sack syndrome
* Linear verrucose epidermal nevus - See Inflammatory linear verrucous epidermal nevus
* Lingua villosa - See Hairy tongue
*   Linguofacial dyskinesia - See Tardive dyskinesia
* Lip and oral cavity cancer
* Lip pit syndrome - See Van der Woude syndrome
* Lip pseudocleft-hemangiomatous branchial cyst syndrome - See Branchiooculofacial syndrome
* Lipase D deficiency - See Hyperlipoproteinemia type 1
* Lipase deficiency combined
*   Lipedema
* Lipid transport defect of intestine - See Chylomicron retention disease
* Lipidosis with triglycerid storage disease
* Lipid-storage myopathy secondary to short chain acyl CoA dehydrogenase deficiency - See Short chain acyl CoA dehydrogenase deficiency
* Lipoamide dehydrogenase deficiency
* Lipoatrophic diabetes - See Lipodystrophy, familial partial, type 2
* Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules
* Lipoblastoma
* Lipodermatosclerosis
* Lipodystophy partial progressive - See Barraquer-Simons syndrome
* Lipodystrophy
* Lipodystrophy cephalothoracic type - See Barraquer-Simons syndrome
* Lipodystrophy partial acquired - See Barraquer-Simons syndrome
* Lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy - See Congenital generalized lipodystrophy type 4
* Lipodystrophy, congenital generalized, type 4 - See Congenital generalized lipodystrophy type 4
* Lipodystrophy, familial partial, Dunnigan type - See Lipodystrophy, familial partial, type 2
* Lipodystrophy, familial partial, type 2
* Lipodystrophy, familial, of limbs and lower trunk - See Lipodystrophy, familial partial, type 2
* Lipodystrophy, reverse partial - See Lipodystrophy, familial partial, type 2
* Lipodystrophy, type A, associated with mandibuloacral dysplasia - See Mandibuloacral dysplasia with type A lipodystrophy
* Lipodystrophy, type B, associated with mandibuloacral dysplasia - See Mandibuloacral dysplasia with type B lipodystrophy
* Lipofuscin storage disease - See Ceroid storage disease
* Lipogranulomatosis
* Lipoid CAH - See Congenital lipoid adrenal hyperplasia
* Lipoid congenital adrenal hyperplasia - See Congenital lipoid adrenal hyperplasia
* Lipoid granulomatosis - See Erdheim-Chester disease
* Lipoid proteinosis of Urbach and Wiethe
* Lipomatosis of pancreas, congenital - See Shwachman-Diamond syndrome
* Lipomatous medulloblastoma (formerly) - See Cerebellar liponeurocytoma
* Lipomucopolysaccharidosis - See Sialidosis, type II
* Lipomyelomeningocele
* Lipoprotein lipase deficiency - See Hyperlipoproteinemia type 1
* Lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency - See Lipase deficiency combined
* Lipoproteinosis - See Lipoid proteinosis of Urbach and Wiethe
* Liposarcoma
* Liposclerotic mesenteritis - See Sclerosing mesenteritis
* LIS1 - See Lissencephaly 1
* LIS2 - See Lissencephaly 2
* Lisker Garcia Ramos syndrome - See Motor neuropathy peripheral with dysautonomia
* Lison syndrome - See Spastic paraplegia 23
* Lissencephaly 1
* Lissencephaly 2
* Lissencephaly and agenesis of corpus callosum - See Lissencephaly X-linked
* Lissencephaly classic - See Lissencephaly 1
* Lissencephaly sequence isolated - See Lissencephaly 1
* Lissencephaly syndrome Norman-Roberts type - See Lissencephaly 2
* Lissencephaly syndrome type 1
* Lissencephaly X-linked
* Lissencephaly, isolated
* Listeria infection
* LISX - See Lissencephaly X-linked
* Littoral cell angioma - See Littoral cell angioma of the spleen
* Littoral cell angioma of the spleen
* Livedo reticularis and cerebrovascular accidents - See Sneddon syndrome
* Liver cancer
* Liver cancer adult - See Liver cancer
* Liver cell carcinoma adult - See Liver cancer
* Liver failure acute infantile
* Liver glycogen synthase deficiency - See Glycogen storage disease type 0
* LKS - See Landau-Kleffner syndrome
* LLP - See Linear lichen planus
* L-lysine NAD-oxido-reductase deficiency - See Hyperlysinemia
* LMBBS - See Bardet-Biedl syndrome
* LMM - See Lentigo maligna melanoma
* LMPS - See Multiple pterygium syndrome lethal type
* LMS - See Lateral meningocele syndrome
* LMS - See Limb-mammary syndrome
* LNS - See Lesch Nyhan syndrome
* Loa loa filariasis - See Loiasis
* Lobar atrophy of the brain - See Pick's disease
* Lobo disease - See Paracoccidioidomycosis
*   Lobular capillary hemangioma - See Pyogenic granuloma
* LOCAH - See Late-onset congenital adrenal hyperplasia
* Local hypoplastic amelogenesis imperfecta - See Amelogenesis imperfecta local hypoplastic
* Localized cicatricial pemphigoid - See Brunsting-Perry syndrome
* Localized epiphyseal dysplasia
* Localized hypertrophic neuropathy
* Localized lichen myxedematosus - See Papular mucinosis
* Localized lipodystrophy - See Atypical lipodystrophy
* Localized pigmented villonodular synovitis - See Pigmented villonodular synovitis
* Localized scleroderma
* Locked in syndrome - See Locked-in syndrome
* Locked-in syndrome
* Lockjaw - See Tetanus
* Lockwood Feingold syndrome
* LOCS - See Laryngoonychocutaneous syndrome
* Loeffler syndrome - See Pneumonia, eosinophilic
* Loeys-Dietz aortic aneurysm syndrome - See Loeys-Dietz syndrome
* Loeys-Dietz syndrome
* Loeys-Dietz syndrome type 1A
* Loeys-Dietz syndrome type 1B
* Loeys-Dietz syndrome type 2A
* Loeys-Dietz syndrome type 2B
* Loeys-Dietz syndrome type 3
* Loeys-Dietz syndrome with osteoarthritis - See Loeys-Dietz syndrome type 3
* Loeys-Dietz syndrome, type 1c (formerly) - See Loeys-Dietz syndrome type 3
* Loeys-Dietz syndrome, type 3 - See Loeys-Dietz syndrome type 3
* LOFAD - See Alzheimer disease type 2
* Logic syndrome - See Laryngoonychocutaneous syndrome
* Logopenic primary progressive aphasia - See Logopenic progressive aphasia
* Logopenic progressive aphasia
* Logopenic variant PPA - See Logopenic progressive aphasia
* Loiasis
* Loin pain hematuria syndrome
* Loken-Senior syndrome - See Senior Loken Syndrome
* Long bone deficiencies associated with cleft lip-palate - See Roberts syndrome
* Long columella with cleft lip/palate and eye, heart and intestinal anomalies - See Kapur Toriello syndrome
* Long eyelashes - See Trichomegaly, cataract, and hereditary spherocytosis
* Long eyelashes, cataract, and hereditary spherocytosis - See Trichomegaly, cataract, and hereditary spherocytosis
*   Long QT 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 - See Andersen-Tawil syndrome
* Long QT syndrome 8
* Long QT syndrome 9
* Long QT syndrome with syndactyly - See Long QT syndrome 8
* Long-chain 3-hydroxy acyl CoA dehydrogenase deficiency - See LCHAD deficiency
* Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency - See LCHAD deficiency
* Long-chain 3-OH acyl-CoA dehydrogenase deficiency - See LCHAD deficiency
* Long-chain acyl-CoA dehydrogenase deficiency - See LCAD deficiency
* Long-thumb brachydactyly syndrome - See Brachydactyly long thumb type
* Loose anagen hair syndrome
* Loose anagen syndrome - See Loose anagen hair syndrome
* Lopes Gorlin syndrome
*   Loss of all scalp hair - See Alopecia totalis
* Lota - See Pinta
* Lou Gehrig disease - See Amyotrophic lateral sclerosis
* Louis-Bar syndrome - See Ataxia telangiectasia
* Low tolerance to sound - See Hyperacusis
* Low-birth-weight dwarfism with skeletal dysplasia - See Microcephalic osteodysplastic primordial dwarfism type 1
* Low-density beta lipoprotein deficiency - See Abetalipoproteinemia
* Lowe Kohn Cohen syndrome - See Deafness nephritis anorectal malformation
* Lowe oculocerebrorenal syndrome
* Lowe syndrome - See Lowe oculocerebrorenal syndrome
* Lower brachial plexus palsy - See Klumpke paralysis
* Lower limb partial duplication renal agenesis - See Billet Bear syndrome
* Lower mesodermal defects - See Lower mesodermal defects sequence
* Lower mesodermal defects sequence
* Low-grade diffuse astrocytoma - See Diffuse astrocytoma
* Lowry Maclean syndrome
* Lowry Wood syndrome
* LP pigmentosa - See Lichen planus pigmentosus
* LP pigmentosus - See Lichen planus pigmentosus
* LPA - See Logopenic progressive aphasia
* LPHAS - See Ulna and fibula absence of with severe limb deficiency
* LPHS - See Loin pain hematuria syndrome
* LPI - See Lysinuric protein intolerance
* LPL and HL deficiency - See Lipase deficiency combined
* LPL and HTGL deficiency - See Lipase deficiency combined
* LPL deficiency - See Familial hyperlipo-proteinemia type 1
* LPL deficiency - See Hyperlipoproteinemia type 1
* LPS - See Van der Woude syndrome
* LQT1 - See Long QT syndrome 1
* LQT10 - See Long QT syndrome 10
* LQT11 - See Long QT syndrome 11
* LQT2 - See Long QT syndrome 2
* LQT3 - See Long QT syndrome 3
* LQT4 - See Long QT syndrome 4
* LQT5 - See Long QT syndrome 5
* LQT6 - See Long QT syndrome 6
* LQT7 - See Andersen-Tawil syndrome
* LQT8 - See Long QT syndrome 8
* LQT9 - See Long QT syndrome 9
* LRCC - See Hereditary leiomyomatosis and renal cell cancer
* LRS - See Larsen syndrome
* LS - See Leigh syndrome
* LSFC - See Leigh syndrome, French Canadian type
* L-tryptophan induced EMS - See Eosinophilia-myalgia syndrome
* Lubag - See Dystonia 3, torsion, X-linked
* Lubani Al Saleh Teebi syndrome
* Lubinsky syndrome
* Lubs X-linked mental retardation syndrome
* Lucey-Driscoll syndrome
* Lujan Fryns syndrome
* Lumbar malsegmentation short stature
* Lundberg syndrome - See Polyneuropathy mental retardation acromicria premature menopause
* Lung adenocarcinoma - See Adenocarcinoma of lung
* Lung agenesis
* Lung agenesis heart defect thumb anomalies - See Manouvrier syndrome
* Lung nocardiosis - See Nocardiosis
*   Lupus
* Lupus anticoagulant, familial - See Antiphospholipid syndrome
*   Lupus erythematosus - See Lupus
* Lupus erythematosus, cutaneous - See Cutaneous lupus erythematosus
* Lupus nephritis
* Luteinizing hormone releasing hormone, deficiency of with ataxia - See Cerebellar ataxia and hypogonadotropic hypogonadism
* Luteinizing hormone-releasing hormone deficiency with ataxia - See Cerebellar ataxia and hypogonadotropic hypogonadism
* Lutz Richner Landolt syndrome
* Lutz-Lewandowsky epidermodysplasia verruciformis - See Epidermodysplasia verruciformis
* Lutz-Splendore-Almeida disease - See Paracoccidioidomycosis
* LVM - See Megalencephalic leukoencephalopathy with subcortical cysts
* LVNC - See Left ventricular noncompaction
* LWD - See Leri Weill dyschondrosteosis
* LWNH - See Linear and whorled nevoid hypermelanosis
* LWS - See Lowry Wood syndrome
* L-Xylulose reductase deficiency - See Pentosuria
* L-Xylulosuria - See Pentosuria
* LYH - See Lymphocytic hypophysitis
* Lymph node neoplasm
* Lymphangiectasia - See Lymphangiectasis
* Lymphangiectasia pulmonary congenital - See Congenital pulmonary lymphangiectasia
* Lymphangiectasies and lymphedema Hennekam type - See Hennekam syndrome
* Lymphangiectasis
* Lymphangioleiomyomatosis
* Lymphangioma
* Lymphangiomas - See Lymphangioma
* Lymphangiomatosis
* Lymphangiomatosis pulmonary - See Congenital pulmonary lymphangiectasia
* Lymphangio-myomatosis - See Lymphangioleiomyomatosis
* Lymphangiosarcoma following mastectomy - See Stewart Treves syndrome
* Lymphatic filariasis
* Lymphatic neoplasm
* Lymphedema and cerebral arteriovenous anomaly
* Lymphedema cholestasis syndrome - See Aagenaes syndrome
* Lymphedema hereditary type 2 - See Hereditary lymphedema type II
* Lymphedema hypoparathyroidism syndrome - See Dahlberg Borer Newcomer syndrome
* Lymphedema praecox - See Hereditary lymphedema type II
* Lymphedema with distichiasis - See Lymphedema-distichiasis syndrome
* Lymphedema with yellow nails - See Yellow nail syndrome
* Lymphedema, microcephaly and chorioretinopathy syndrome
* Lymphedema, atrial septal defect, and characteristic facial changes - See Irons Bhan syndrome
* Lymphedema, congenital
* Lymphedema, hereditary, II - See Hereditary lymphedema type II
* Lymphedema, late-onset - See Hereditary lymphedema type II
* Lymphedema-distichiasis syndrome
* Lymphoblastic lymphoma
* Lymphocyte function-associated antigen 1 immunodeficiency - See Leukocyte adhesion deficiency type 1
* Lymphocytes absent
* Lymphocytic hypophysitis
* Lymphocytic infiltrate of Jessner
* Lymphocytic mastitis - See Diabetic mastopathy
* Lymphocytic mastopathy - See Diabetic mastopathy
* Lymphocytic vasculitis
* Lymphogranuloma venereum
* Lymphogranulomatosis X - See Angioimmunoblastic T-cell lymphoma
* Lymphoma of the orbit - See Orbital lymphoma
* Lymphoma AIDSrelated
* Lymphoma, B-Cell - See B-cell lymphomas
* Lymphoma, follicular - See Follicular lymphoma
* Lymphoma, gastric non Hodgkins type
* Lymphoma, Hodgkin's - See Hodgkin lymphoma
* Lymphoma, large-cell
* Lymphoma, large-cell, immunoblastic
* Lymphoma, Lymphoblastic - See Lymphoblastic lymphoma
* Lymphoma, mantle cell - See Mantle cell lymphoma
* Lymphoma, small cleaved-cell, diffuse
* Lymphoma, small cleaved-cell, follicular
* Lymphomatoid granulomatosis
* Lymphomatoid papulosis
* Lymphomatous thyroiditis
* Lymphoplasmacytic lymphoma - See Waldenstrom macroglobulinemia
* Lymphoplasmocytic sclerosing pancreatitis - See Autoimmune pancreatitis
* Lymphoproliferative disease, X-linked - See X-linked lymphoproliferative syndrome
* Lymphoproliferative syndrome X-linked 1 - See X-linked lymphoproliferative syndrome 1
* Lymphoproliferative syndrome, X-linked, 1 - See X-linked lymphoproliferative syndrome 1
* Lymphoproliferative syndrome, X-linked, 2 - See X-linked lymphoproliferative syndrome 2
* Lymphosarcoma
* Lynch Lee Murday syndrome - See Caudal appendage deafness
* Lynch syndrome
* Lynch syndrome 1 - See Lynch syndrome
* Lynch syndrome 2 - See Lynch syndrome
* Lyngstadaas syndrome - See Steroid dehydrogenase deficiency dental anomalies
* LyP - See Lymphomatoid papulosis
* Lysine alpha-ketoglutarate reductase deficiency - See Hyperlysinemia
* Lysine intolerance - See Hyperlysinemia
* Lysine intolerance - See Hyperlysinemia
* Lysinuric protein intolerance
* Lysosomal acid lipase deficiency
* Lysosomal alpha-D-mannosidase deficiency - See Alpha-mannosidosis type 1
* Lysosomal beta-mannosidase deficiency - See Mannosidosis, beta A, lysosomal
* Lysosomal cystine transport protein, defect of - See Nephropathic cystinosis
* Lysosomal glycogen storage disease without acid maltase deficiency (formerly) - See Danon disease
* Lysosomal protective protein deficiency of - See Galactosialidosis
* Lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues - See Fucosidosis
* Lyssa - See Rabies
* Lysteria monocytoigeneses meningitis