L | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

• L1 syndrome
• L1CAM syndrome - See L1 syndrome
• 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
• 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
• 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
• Lactotroph adenoma - See Prolactinoma
• LAD - See Linear IgA disease
• LAD - See Leukocyte adhesion deficiency type 1
• LAD 1 - See Leukocyte adhesion deficiency type 1
• LAD2 - See SLC35C1-CDG (CDG-IIc)
• LADD syndrome - See Lacrimo-auriculo-dento-digital syndrome
• Ladda Zonana Ramer syndrome - See Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
• LAD-I - See Leukocyte adhesion deficiency type 1
• Lafora body disorder - See Lafora disease
• Lafora disease
• 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
• LAM M2 - See Acute myeloblastic leukemia with maturation
• 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
• 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
• Laparoschisis - See Gastroschisis
• LAPS syndrome - See Myhre syndrome
• 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
• 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 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 - See Epidermolysis bullosa
• Laryngo-onycho-cutaneous syndrome - See Epidermolysis bullosa
• Laryngotracheal cleft - See Laryngeal cleft
• Laryngotracheal stenosis, arthropathy, prognathism, and short stature - See Myhre syndrome
• Laryngotracheoesophageal cleft - See Laryngeal cleft
• Laryngo-tracheo-esophageal cleft - See Laryngeal cleft
• Laryngo-tracheo-esophageal diastema - See Laryngeal cleft
• Larynx atresia
• Larynx, congenital partial atresia of
• LATAIE disease - See LRBA deficiency
• Late hereditary endothelial dystrophy - See Fuchs endothelial corneal dystrophy - not a rare disease
• Late onset Alzheimer disease - See Late-Onset Familial Alzheimer Disease
• Late onset familial Alzheimer disease - See Late-Onset Familial Alzheimer Disease
• Late onset scleroatonic familial myopathy (subtype) - See Ullrich congenital muscular dystrophy
• Late-onset biotin-responsive multiple carboxylase deficiency - See Biotinidase deficiency
• Late-onset distal myopathy, Markesbery-Griggs type
• Late-Onset Familial Alzheimer Disease
• Late-onset group B strep disease in newborns - See Group B strep disease in newborns
• Late-onset junctional epidermolysis bullosa - See Junctional epidermolysis bullosa
• Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
• 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
• Late-onset retinal degeneration
• 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 Multiple symmetric lipomatosis
• Laurence-Moon syndrome
• Laurin Sandrow syndrome - See Laurin-Sandrow syndrome
• Laurin-Sandrow syndrome
• Lawrence syndrome - See Acquired generalized lipodystrophy
• Lawrence-Seip syndrome - See Acquired generalized lipodystrophy
• Laxova Brown Hogan syndrome - See Early-onset parkinsonism-intellectual disability syndrome
• Laxova-Opitz syndrome - See Early-onset parkinsonism-intellectual disability syndrome
• LBSL - See Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
• LC - See Laryngeal cleft
• LCA - See Leber congenital amaurosis
• LCA1 - See Leber congenital amaurosis
• LCA10 - See Leber congenital amaurosis
• LCA11 - See Leber congenital amaurosis
• LCA12 - See Leber congenital amaurosis
• LCA13 - See Leber congenital amaurosis
• LCA14 - See Leber congenital amaurosis
• LCA15 - See Leber congenital amaurosis
• LCA16 - See Leber congenital amaurosis
• LCA2 - See Leber congenital amaurosis
• LCA3 - See Leber congenital amaurosis
• LCA4 - See Leber congenital amaurosis
• LCA5 - See Leber congenital amaurosis
• LCA6 - See Leber congenital amaurosis
• LCA7 - See Leber congenital amaurosis
• LCA8 - See Leber congenital amaurosis
• LCA9 - See Leber congenital amaurosis
• LCAD deficiency
• LCATA deficiency - See Fish-eye disease
• LCC - See Leukoencephalopathy, cerebral calcifications, and cysts
• LCCS - See Lethal congenital contracture syndrome
• LCCS11 - See Lethal congenital contracture syndrome 11
• LCCS2 - See Lethal congenital contracture syndrome 2
• LCCS3 - See Lethal congenital contracture syndrome
• LCD1 - See Lattice corneal dystrophy type 1
• LCH - See Langerhans cell histiocytosis
• LCHAD deficiency
• L-CMD - See Congenital muscular dystrophy
• LCPD - See Legg-Calve-Perthes disease
• L-CPT 1 deficiency - See Carnitine palmitoyl transferase 1A deficiency
• L-CPT1 deficiency - See Carnitine palmitoyl transferase 1A deficiency
• L-CPTI deficiency - See Carnitine palmitoyl transferase 1A 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
• 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 - See Leber congenital amaurosis
• Leber congenital amaurosis 10 - See Leber congenital amaurosis
• Leber congenital amaurosis 11 - See Leber congenital amaurosis
• Leber congenital amaurosis 12 - See Leber congenital amaurosis
• Leber congenital amaurosis 13 - See Leber congenital amaurosis
• Leber congenital amaurosis 14 - See Leber congenital amaurosis
• Leber congenital amaurosis 15 - See Leber congenital amaurosis
• Leber congenital amaurosis 16 - See Leber congenital amaurosis
• Leber congenital amaurosis 2 - See Leber congenital amaurosis
• Leber congenital amaurosis 3 - See Leber congenital amaurosis
• Leber congenital amaurosis 4 - See Leber congenital amaurosis
• Leber congenital amaurosis 5 - See Leber congenital amaurosis
• Leber congenital amaurosis 6 - See Leber congenital amaurosis
• Leber congenital amaurosis 7 - See Leber congenital amaurosis
• Leber congenital amaurosis 8 - See Leber congenital amaurosis
• Leber congenital amaurosis 9 - See Leber congenital amaurosis
• Leber congenital amaurosis type 1 - See Leber congenital amaurosis
• Leber congenital amaurosis type 10 - See Leber congenital amaurosis
• Leber congenital amaurosis type 11 - See Leber congenital amaurosis
• Leber congenital amaurosis type 12 - See Leber congenital amaurosis
• Leber congenital amaurosis type 2 - See Leber congenital amaurosis
• Leber congenital amaurosis type 3 - See Leber congenital amaurosis
• Leber congenital amaurosis type 4 - See Leber congenital amaurosis
• Leber congenital amaurosis type 5 - See Leber congenital amaurosis
• Leber congenital amaurosis type 6 - See Leber congenital amaurosis
• Leber congenital amaurosis type 9 - See Leber congenital amaurosis
• Leber hereditary optic neuropathy
• Leber hereditary optic neuropathy with dystonia
• Leber miliary aneurysm - See Coats disease
• 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
• 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 noncompaction 5 - See Familial dilated cardiomyopathy
• Left ventricular transient apical ballooning - See Broken heart syndrome
• Left-sided gallbladder
• Leg absence deformity cataract
• Legg-Calve-Perthes disease
• Legg-Calve-Perthes syndrome - See Legg-Calve-Perthes disease
• Legionellosis - See Legionnaires’ disease
• Legionnaires disease - See Legionnaires’ disease
• Legionnaires’ disease
• Legius syndrome
• Lehman syndrome - See Lateral meningocele syndrome
• Leichtman Wood Rohn syndrome - See Anophthalmia plus syndrome
• Leigh disease - See Leigh syndrome
• Leigh disease, maternally inherited - See Mitochondrial DNA-associated 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
• Leiomyoma of vulva and esophagus
• Leiomyomatosis familial
• Leiomyomatosis of esophagus, cataract and hematuria
• Leiomyomatosis peritonealis disseminate - See Disseminated peritoneal leiomyomatosis
• Leiomyomatosis, esophageal and vulval, with nephropathy
• Leiomyomatosis, esophagogastric and vulvar - See Leiomyoma of vulva and esophagus
• Leiomyosarcoma
• Leishmaniasis
• Lelis syndrome
• Lemierre postanginal sepsis - See Lemierre syndrome
• Lemierre syndrome
• Lemierre’s syndrome - See 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
• LEPD - See Obesity due to congenital leptin deficiency
• Leprechaunism
• Leprosy - See Hansen's disease
• Leptin deficiency or dysfunction - See Obesity due to congenital leptin deficiency
• Leptomeningeal angiomatosis - See Sturge-Weber syndrome
• 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 disease - See Lesch Nyhan syndrome
• 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 arthrogryposis-11 - See Lethal congenital contracture syndrome 11
• Lethal congenital contracture syndrome
• Lethal congenital contracture syndrome 1
• Lethal congenital contracture syndrome 11
• Lethal congenital contracture syndrome 2
• Lethal congenital contracture syndrome 3 - See Lethal congenital contracture syndrome
• Lethal congenital contracture syndrome 4
• Lethal congenital contracture syndrome type 3 - See Lethal congenital contracture syndrome
• Lethal congenital erythroderma - See Erythroderma lethal congenital
• Lethal congenital glycogen storage disease of the heart - not a rare disease
• 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 midline granuloma - See Extranodal nasal NK/T cell lymphoma
• 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 osteogenesis imperfecta - See Osteogenesis imperfecta type II
• Lethal osteosclerotic bone dysplasia - See Raine syndrome
• Lethal short limb skeletal dysplasia Al Gazali type
• Lethal short-limbed platyspondylic dwarfism Torrance type - See Platyspondylic lethal skeletal dysplasia Torrance type
• Leucine-sensitive hypoglycemia of infancy
• Leucocyte adhesion defect
• 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, 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 SLC35C1-CDG (CDG-IIc)
• Leukocyte adhesion deficiency type I - See Leukocyte adhesion deficiency type 1
• Leukocytoclastic angiitis - See Hypersensitivity vasculitis
• Leukoderma acquisitum centrifugum of Sutton - See Halo nevi
• Leukodystrophy
• Leukodystrophy metachromatic - See Metachromatic leukodystrophy
• Leukodystrophy, demyelinating, adult-onset, autosomal dominant - See Autosomal dominant leukodystrophy with autonomic disease
• 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 - dystonia - motor neuropathy
• Leukoencephalopathy palmoplantar keratoderma
• Leukoencephalopathy with brain stem and spinal cord involvement - high lactate - See Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
• Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation - See Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
• Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
• Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome - See Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
• Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome - SeeLeukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
• Leukoencephalopathy with dystonia and motor neuropathy - See Leukoencephalopathy - dystonia - motor neuropathy
• Leukoencephalopathy with swelling and cysts - See Megalencephalic leukoencephalopathy with subcortical cysts
• Leukoencephalopathy with thalamus and brainstem involvement and high lactate
• Leukoencephalopathy with vanishing white matter
• Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema
• Leukoencephalopathy, cerebral calcifications, and cysts
• Leukoencephalopathy, cystic, without megalencephaly - See RNAse T2-deficient leukoencephalopathy
• Leukoencephalopathy, diffuse hereditary, with spheroids - See Hereditary diffuse leukoencephalopathy with spheroids
• Leukoencephalopathy, progressive multifocal - See Progressive multifocal leukoencephalopathy
• Leukoencephalopathy-dystonia-motor neuropathy syndrome - See Leukoencephalopathy - dystonia - motor neuropathy
• Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome - See Leukoencephalopathy with thalamus and brainstem involvement and high lactate
• Leukokeratosis, hereditary mucosal - See White sponge nevus of cannon
• Leukonychia totalis
• 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
• Levic-Stefanovic-Nikolic syndrome - See 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
• Lewis-Sumner syndrome
• Lewy body dementia - not a rare disease
• Lewy body disease - See Lewy body dementia - not a rare disease
• Leyden-Moebius muscular dystrophy - See Limb-girdle muscular dystrophy type 2A
• Leydig cell agenesis - See Leydig cell hypoplasia
• Leydig cell hypoplasia
• LFA 1 immunodeficiency - See Leukocyte adhesion deficiency type 1
• LFS1 - See Li-Fraumeni syndrome
• LGL leukemia - See Large granular lymphocyte leukemia
• LGMD - 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
• LGMD1C - See Limb-girdle muscular dystrophy
• LGMD1D - See Limb-girdle muscular dystrophy
• LGMD1E - See Limb-girdle muscular dystrophy
• LGMD1F - See Limb-girdle muscular dystrophy
• LGMD1G - See Limb-girdle muscular dystrophy
• LGMD1H - See Limb-girdle muscular dystrophy
• 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
• LGMD2I - See Limb-girdle muscular dystrophy type 2I
• LGMD2J - See Limb-girdle muscular dystrophy
• LGMD2K - See Limb-girdle muscular dystrophy
• LGMD2L - See Limb-girdle muscular dystrophy
• LGMD2M - See Limb-girdle muscular dystrophy
• LGMD2N - See Limb-girdle muscular dystrophy
• LGMD2O - See Limb-girdle muscular dystrophy
• LGMD2P - See Limb-girdle muscular dystrophy type 1A
• LGMD2Q - See Limb-girdle muscular dystrophy
• LGMD2S - See Limb-girdle muscular dystrophy
• LGMD2T - See Limb-girdle muscular dystrophy
• LGMD3 - See Limb-girdle muscular dystrophy type 2B
• LGS - See Trichorhinophalangeal syndrome type 2
• LGV - See Lymphogranuloma venereum
• LH - See Lymphocytic hypophysitis
• LH resistance due to LH receptor deactivation - See Leydig cell hypoplasia
• 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
• LI - See Lamellar ichthyosis
• Li Fraumeni syndrome - See Li-Fraumeni syndrome
• LI1 - See Ichthyosis lamellar 1
• LI2 - See Ichthyosis lamellar 2
• Lichen amyloidosis familial - See Primary cutaneous amyloidosis
• Lichen follicularis - See Lichen planopilaris
• Lichen myxedematosus - See Papular mucinosis
• Lichen myxoedematosus - See Papular mucinosis
• Lichen planopilaris
• Lichen planopilaris classic type - See Lichen planopilaris
• Lichen planus actinus - See Actinic lichen planus
• Lichen planus follicularis - See Lichen planopilaris
• Lichen planus pemphigoides
• Lichen planus pigmentosa - See Lichen planus pigmentosus
• Lichen planus pigmentosus
• Lichen planus pigmentosus inversus - See Lichen planus pigmentosus
• Lichen planus subtropicus - See Actinic lichen planus
• Lichen planus tropicus - See Actinic lichen planus
• Lichen sclerosis - See Lichen sclerosus
• Lichen sclerosis et atrophicus - See Lichen sclerosus
• Lichen sclerosus
• Lichen sclerosus et atrophicus - See Lichen sclerosus
• Lichenoid melanodermatitis - See Actinic lichen planus
• Lichtenstein syndrome
• Liddle syndrome
• Liddle's syndrome - See Liddle syndrome
• Liebenberg syndrome - See Brachydactyly elbow wrist dysplasia
• Li-Fraumeni syndrome
• Light chain amyloidosis - See AL amyloidosis
• Light chain deposition disease
• Light-chain deposition disease - See Light chain deposition disease
• Ligneous conjunctivitis
• 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 girdle muscular dystrophy - See Limb-girdle muscular dystrophy
• Limb scalp and skull defects - See Adams-Oliver syndrome
• Limb uterus syndrome - See Hypomelia mullerian duct anomalies
• Limb, scalp and skull defects - See Adams-Oliver syndrome
• Limb-body wall complex
• Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy - intellectual disability - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy due to caveolin-3 deficiency - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy due to FKRP deficiency - See Limb-girdle muscular dystrophy type 2I
• Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency - See Limb-girdle muscular dystrophy, type 2C
• Limb-girdle muscular dystrophy type 1A
• Limb-girdle muscular dystrophy type 1B
• Limb-girdle muscular dystrophy type 1C - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 1D - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 1E - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 1F - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 1G - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 1H - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 2 - See Limb-girdle muscular dystrophy type 2A
• Limb-girdle muscular dystrophy type 2A
• Limb-girdle muscular dystrophy type 2B
• Limb-girdle muscular dystrophy type 2E
• Limb-girdle muscular dystrophy type 2F
• Limb-girdle muscular dystrophy type 2H
• Limb-girdle muscular dystrophy type 2I
• Limb-girdle muscular dystrophy type 2J - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 2K - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 2L - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 2M - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 2N - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 2O - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 2P - See Limb-girdle muscular dystrophy type 1A
• Limb-girdle muscular dystrophy type 2Q - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 2S - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 2T - See Limb-girdle muscular dystrophy
• 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 1G - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy, type 2C
• Limb-girdle muscular dystrophy, type 2D
• Limb-girdle muscular dystrophy, type 2G
• Limb-girdle muscular dystrophy-intellectual disability syndrome - See Limb-girdle muscular dystrophy
• Limbic encephalitis
• Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies - See Limbic encephalitis with LGI1 antibodies
• Limbic encephalitis with LGI1 antibodies
• Limb-mammary syndrome
• Limit dextrinosis - See Glycogen storage disease type 3
• Limited cutaneous systemic scleroderma - See Limited cutaneous systemic sclerosis
• Limited cutaneous systemic sclerosis
• Limited systemic sclerosis
• 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 defects with multiple congenital anomalies 1 - See Microphthalmia with linear skin defects syndrome
• Linear verrucose epidermal nevus - See Inflammatory linear verrucous epidermal nevus
• Lin-Gettig syndrome
• Lingua villosa - See Black hairy tongue - not a rare disease
• Linguofacial dyskinesia - See Tardive dyskinesia - not a rare disease
• Lip and oral cavity cancer
• Lip pit syndrome - See Van der Woude syndrome
• Lip pseudocleft-hemangiomatous branchial cyst syndrome - See Branchiooculofacial syndrome
• LIPA deficiency - See Lysosomal acid lipase deficiency
• Lipase D deficiency - See Familial lipoprotein lipase deficiency
• Lipase deficiency combined
• LIPC Deficiency - See Hepatic lipase deficiency
• LIPD deficiency - See Familial lipoprotein lipase deficiency
• Lipedema - not a rare disease
• Lipedematous Scalp
• LIPE-related familial partial lipodystrophy - See Familial partial lipodystrophy
• LIPE-related FPLD - See Familial partial lipodystrophy
• 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
• Lipoate biosynthesis defect - See Lipoic acid biosynthesis defects
• Lipoatrophic diabetes - See Familial partial lipodystrophy type 2
• Lipoatrophic diabetes - See Congenital generalized lipodystrophy
• Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules
• Lipoblastoma
• Lipodermatosclerosis
• Lipodystophy partial progressive - See Barraquer-Simons syndrome
• Lipodystrophy cephalothoracic type - See Barraquer-Simons syndrome
• Lipodystrophy due to peptidic growth factors deficiency
• 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, ASSOCIATED WITH PPARG MUTATIONS - See Familial partial lipodystrophy associated with PPARG mutations
• Lipodystrophy, familial partial, Dunnigan type - See Familial partial lipodystrophy type 2
• Lipodystrophy, familial partial, type 2 - See Familial partial lipodystrophy type 2
• Lipodystrophy, familial partial, type 4 - See Familial partial lipodystrophy
• Lipodystrophy, familial partial, type 5 - See Familial partial lipodystrophy
• Lipodystrophy, familial partial, type 6 - See Familial partial lipodystrophy
• Lipodystrophy, familial, of limbs and lower trunk - See Familial partial lipodystrophy type 2
• Lipodystrophy, reverse partial - See Familial partial lipodystrophy 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
• Lipoic acid biosynthesis defect - See Lipoic acid biosynthesis defects
• Lipoic acid biosynthesis defects
• Lipoic acid synthetase deficiency
• 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 Familial lipoprotein lipase deficiency
• Lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency - See Lipase deficiency combined
• Lipoprotein lipase deficiency, familial - See Familial lipoprotein lipase deficiency
• Lipoproteinosis - See Lipoid proteinosis of Urbach and Wiethe
• Liposarcoma
• Liposclerotic mesenteritis - See Sclerosing mesenteritis
• Liposomal Acid Lipase Deficiency, Wolman Type - See Wolman disease
• LIS1 - See Lissencephaly 1
• LIS2 - See Lissencephaly 2
• Lison syndrome - See Spastic paraplegia 23
• Lissencephaly
• 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 type 2 with muscular and ocular involvement - Another name for Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
• Lissencephaly X-linked
• Lissencephaly, X-linked 2 - See X-linked lissencephaly with abnormal genitalia
• LISSENCEPHALY, X-LINKED, WITH AMBIGUOUS GENITALIA - See X-linked lissencephaly with abnormal genitalia
• Listeria infection
• Listeria monocytogenes infection - See Listeria infection
• Listeriosis - See Listeria infection
• LISX - See Lissencephaly X-linked
• Littoral cell angioma - See Littoral cell angioma of the spleen
• Littoral cell angioma of the spleen
• Livedo racemosa and cerebrovascular accidents - See Sneddon syndrome
• Livedo racemosa-cerebrovascular accident syndrome - See Sneddon syndrome
• Livedo reticularis and cerebrovascular accidents - See Sneddon syndrome
• Livedo reticularis with summer ulcerations - See Livedoid vasculopathy
• Livedo reticularis with winter ulcerations - See Livedoid vasculopathy
• Livedo reticularis-cerebrovascular accident syndrome - See Sneddon syndrome
• Livedo vasculitis - See Livedoid vasculopathy
• Livedoid vasculitis - See Livedoid vasculopathy
• Livedoid vasculopathy
• Liver glycogen storage disease 0 - See Glycogen storage disease type 0, liver
• Liver glycogen synthase deficiency - See Glycogen storage disease type 0, liver
• Liver GSD 0 - See Glycogen storage disease type 0, liver
• LKS - See Landau-Kleffner syndrome
• LLP - See Linear lichen planus
• L-lysine NAD-oxido-reductase deficiency - See Hyperlysinemia
• LMM - See Lentigo maligna melanoma
• LMNA-related congenital muscular dystrophy - See Congenital muscular dystrophy
• LMPS - See Multiple pterygium syndrome lethal type
• LMS - See Limb-mammary syndrome
• LMS - See Lateral meningocele syndrome
• LNMS - See Laurence-Moon syndrome
• LNS - See Lesch Nyhan syndrome
• Loa loa filariasis - See Loiasis
• Lobar atrophy of the brain - See Behavioral variant of frontotemporal dementia
• Lobo disease - See Paracoccidioidomycosis
• Lobstein disease - See Osteogenesis imperfecta
• Lobular capillary hemangioma - See Pyogenic granuloma - not a rare disease
• LOCAH - See Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - not a rare disease
• Local hypoplastic amelogenesis imperfecta - See Amelogenesis imperfecta local hypoplastic
• Localized Castleman disease - See Unicentric Castleman disease
• Localized cicatricial pemphigoid - See Brunsting-Perry syndrome
• Localized deciduous skin - See Acral peeling skin syndrome
• Localized fibrosing scleroderma - See Localized scleroderma
• Localized hypertrophic neuropathy
• Localized junctional epidermolysis bullosa, non-Herlitz type - See Junctional epidermolysis bullosa
• Localized lichen myxedematosus - See Papular mucinosis
• Localized lipodystrophy
• Localized lipodystrophy - See Localized lipodystrophy
• Localized lipomatosis of the scalp with or without alopecia - See Lipedematous Scalp
• Localized pigmented villonodular synovitis - See Pigmented villonodular synovitis
• Localized PSS - See Acral peeling skin syndrome
• Localized pustular psoriasis - See Pustulosis palmaris et plantaris
• Localized scleroderma
• Locked in syndrome - See Locked-in syndrome
• Locked-in syndrome
• Lockjaw - See Tetanus
• LOCS - See Epidermolysis bullosa
• Loeffler syndrome - See Pneumonia, eosinophilic
• Loeys-Dietz aortic aneurysm syndrome - See Loeys-Dietz syndrome
• Loeys-Dietz syndrome
• Loeys-Dietz syndrome 1 - See Loeys-Dietz syndrome type 1
• Loeys-Dietz syndrome 2 - See Loeys-Dietz syndrome type 2
• Loeys-Dietz syndrome 4 - See Loeys-Dietz syndrome type 4
• Loeys-Dietz syndrome type 1
• Loeys-Dietz syndrome type 2
• Loeys-Dietz syndrome type 3
• Loeys-Dietz syndrome type 4
• 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 Late-Onset Familial Alzheimer Disease
• Logic syndrome - See Epidermolysis bullosa
• 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 QT syndrome - not a rare disease
• 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 - See Timothy syndrome
• Long QT syndrome 9
• Long QT syndrome with syndactyly - See Timothy syndrome
• 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
• LORD - See Late-onset retinal degeneration
• 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
• 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 extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2
• Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures - SeeAutosomal dominant spinal muscular atrophy, lower extremity-predominant 1
• 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
• Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis - See Dent disease
• Lowry Maclean syndrome
• Lowry Wood syndrome
• LP pemphigoides - See Lichen planus pemphigoides
• LP pigmentosa - See Lichen planus pigmentosus
• LP pigmentosus - See Lichen planus pigmentosus
• LPA - See Logopenic progressive aphasia
• LPD - See Disseminated peritoneal leiomyomatosis
• 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 lipoprotein lipase deficiency
• LPP - See Lichen planopilaris
• LPP - See Pustulosis palmaris et plantaris
• 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 Timothy syndrome
• LQT9 - See Long QT syndrome 9
• LRBA deficiency
• LRBA deficiency with Autoantibodies, regulatory T cell defects, Autoimmune Infiltration, and Enteropathy - See LRBA deficiency
• LRCC - See Hereditary leiomyomatosis and renal cell cancer
• LRS - See Larsen syndrome
• LS - See Leigh syndrome
• LSFC - See Leigh syndrome, French Canadian type
• LTBL - See Leukoencephalopathy with thalamus and brainstem involvement and high lactate
• LTEC - See Laryngeal cleft
• L-tryptophan induced EMS - See Eosinophilia-myalgia syndrome
• Lubag - See X-linked dystonia-parkinsonism/Lubag
• Lubani Al Saleh Teebi syndrome
• Lubinsky syndrome
• Lubs X-linked mental retardation syndrome (formerly) - See MECP2 duplication syndrome
• Lucey-Driscoll syndrome
• Lujan syndrome
• Lundberg syndrome - See Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
• Lung adenocarcinoma
• Lung agenesis
• Lung agenesis heart defect thumb anomalies - See Manouvrier syndrome
• Lung nocardiosis - See Nocardiosis
• Lung Small Cell Carcinoma - See Small cell lung cancer
• Lupus - not a rare disease
• Lupus anticoagulant, familial - See Antiphospholipid syndrome
• Lupus erythematosus - See Lupus - not a rare disease
• Lupus erythematosus tumidus
• 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-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
• Lyme borreliosis - See Lyme disease - not a rare disease
• Lyme disease - not a rare disease
• Lymph Node Neoplasm
• Lymphangiectasia - See Lymphangiectasis
• Lymphangiectasia pulmonary congenital - See Congenital pulmonary lymphangiectasia
• Lymphangiectasies and lymphedema Hennekam type - See Hennekam syndrome
• Lymphangiectasis
• Lymphangioleiomyomatosis
• Lymphangiomas - See Lymphatic malformations
• Lymphangiomatosis
• Lymphangiomatosis pulmonary - See Congenital pulmonary lymphangiectasia
• Lymphangio-myomatosis - See Lymphangioleiomyomatosis
• Lymphangiosarcoma following mastectomy - See Stewart Treves syndrome
• Lymphatic filariasis
• Lymphatic malformations
• 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, hereditary, II - See Hereditary lymphedema type II
• Lymphedema, late-onset - See Hereditary lymphedema type II
• Lymphedema, primary, with myelodysplasia - See Deafness-lymphedema-leukemia syndrome
• Lymphedema-distichiasis syndrome
• Lymphoblastic lymphoma
• Lymphoblastoid variant of NK-cell lymphoma - See Blastic plasmacytoid dendritic cell
• Lymphocyte function-associated antigen 1 immunodeficiency - See Leukocyte adhesion deficiency type 1
• Lymphocytic colitis - not a rare disease
• 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 AIDS related
• Lymphoma, B-Cell - See B-cell lymphoma
• Lymphoma, follicular - See Follicular lymphoma
• 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
• 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 - not a rare disease
• Lynch syndrome 1 - See Lynch syndrome - not a rare disease
• Lynch syndrome 2 - See Lynch syndrome - not a rare disease
• Lyngstadaas syndrome - See Steroid dehydrogenase deficiency dental anomalies
• LyP - See Lymphomatoid papulosis
• Lysine alpha-ketoglutarate reductase deficiency - See Hyperlysinemia
• Lysine intolerance - See Hyperlysinemia
• Lysinuric protein intolerance
• Lysosomal acid lipase deficiency
• Lysosomal alpha-D-mannosidase deficiency - See Alpha-mannosidosis
• Lysosomal beta-mannosidase deficiency - See Mannosidosis, beta A, lysosomal
• Lysosomal cystine transport protein, defect of - See Nephropathic cystinosis
• Lysosomal Free Sialic Acid Storage Disorders - See Free sialic acid storage disease
• 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 - SeeFucosidosis
• Lyssa - See Rabies
• Lysyl hydroxylase-deficient EDS - See Kyphoscoliotic Ehlers-Danlos syndrome