- 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
domingo, 27 de enero de 2019
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
Suscribirse a:
Enviar comentarios (Atom)
No hay comentarios:
Publicar un comentario