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

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





Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.



L 1/1

• 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
• 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
• 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 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
• 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
• 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
• 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
• Laryngotracheoesophageal cleft pulmonary hypoplasia - See Novak syndrome
• 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 tylosis (type A) - See Tylosis
• 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 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 Multiple symmetric lipomatosis
• Laurence Prosser Rocker syndrome
• Laurence-Moon syndrome
• Laurin Sandrow syndrome - See Laurin-Sandrow syndrome
• Laurin-Sandrow syndrome
• Lawrence syndrome - Another name for Acquired generalized lipodystrophy
• Lawrence-Seip syndrome - Another name for 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
• 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 1 deficiency
• L-CPT1 deficiency - See Carnitine palmitoyl transferase 1 deficiency
• L-CPT1 deficiency - See Carnitine palmitoyltransferase I deficiency , muscle
• L-CPTI deficiency - See Carnitine palmitoyltransferase I deficiency , muscle
• L-CPTI 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
• 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
• Leiner-Moussous Desquamative Erythroderma - See Erythroderma desquamativa of Leiner
• 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
• Leipala Kaitila syndrome - See Lumbar malsegmentation short stature
• Leishmaniasis
• Leisti Hollister Rimoin syndrome
• 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
• 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 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
• 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
• 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 reduction defect
• 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 atrophy, scarring alopecia, anonychia, and tongue lesion - See Sequeiros Sack syndrome
• 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 Pick's disease
• 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
• Lockwood Feingold syndrome
• 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 - not a rare disease
• 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
• 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
• Lumbar malsegmentation short stature
• 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
• Lymphocytes absent
• 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, 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
• 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