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L-2-hydroxyglutaric aciduria1 recruitingMetabolicView → L-Arginine:glycine amidinotransferase deficiencyView → L1 syndrome9 recruitingView → La Crosse encephalitisView → Lacrimal drainage system anomalyGroupView → Lacrimal drainage system anomaly of genetic originGroupView → Lacrimoauriculodentodigital syndromeView → Lafora disease1 recruitingView → Laing distal myopathy1 recruitingNeuromuscularView → LAMA5-related multisystemic syndromeView → Lamb-Shaffer syndromeView → LAMB2-related infantile-onset nephrotic syndromeRenalView → Lambert syndrome3 recruitingView → Lambert-Eaton Myasthenic Syndrome7 recruitingNeuromuscularView → Lamellar IchthyosisDermatologicalView → Laminin subunit alpha 2-related congenital muscular dystrophy6 recruitingNeuromuscularView → Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23NeuromuscularView → Laminin subunit alpha 2-related muscular dystrophyNeuromuscularGroupView → LaminopathyGroupView → Laminopathy with lipodystrophyGroupView → Laminopathy with peripheral neuropathyGroupView → Laminopathy with premature agingGroupView → Laminopathy with striated muscle involvementGroupView → Landau-Kleffner SyndromeNeurologicalView → Langer mesomelic dysplasiaView → Langerhans cell histiocytosis58 recruitingImmuneView → Langerhans cell sarcoma4 recruitingOncologyView → Large/giant congenital melanocytic nevusView → Laron syndromeView → Laron syndrome with immunodeficiencyImmuneView → Larsen syndromeView → Larsen-like osseous dysplasia-short stature syndromeView → Larsen-like syndrome, B3GAT3 typeView → Laryngeal abductor paralysisView → Laryngeal abductor paralysis-intellectual disability syndromeView → Laryngeal neuroendocrine tumor6 recruitingEndocrineView → Laryngo-onycho-cutaneous syndromeView → LaryngoceleView → Laryngotracheoesophageal cleft1 recruitingView → Laryngotracheoesophageal cleft type 0View → Laryngotracheoesophageal cleft type 1View → Laryngotracheoesophageal cleft type 2View → Laryngotracheoesophageal cleft type 3View → Laryngotracheoesophageal cleft type 4View → Larynx anomalyGroupView → Larynx atresia1 recruitingView → Lassa fever3 recruitingView → Late infantile CACH syndromeView → Late infantile CLN1 diseaseView → Late infantile CLN10 diseaseView → Late infantile CLN2 diseaseView → Late infantile CLN5 diseaseView → Late infantile CLN6 diseaseView → Late infantile CLN8 diseaseView → Late-infantile/juvenile Krabbe diseaseView → Late-onset ataxia with dementiaNeurologicalGroupView → Late-onset citrullinemia type IView → Late-onset combined immunodeficiency due to ICOS deficiencyImmuneView → Late-onset combined immunodeficiency due to ICOSL deficiencyImmuneView → Late-onset distal myopathy, Markesbery-Griggs typeNeuromuscularView → Late-onset familial hypoaldosteronismView → Late-onset focal dermal elastosisView → Late-onset idiopathic chronic pancreatitisView → Late-onset isolated ACTH deficiencyView → Late-onset junctional epidermolysis bullosaDermatologicalView → Late-onset localized junctional epidermolysis bullosa-intellectual disability syndromeDermatologicalView → Late-onset nephronophthisisRenalView → Late-Onset Pompe Disease8 recruitingMetabolicView → Late-onset retinal degeneration4 recruitingOphthalmologicalView → Late-onset Steinert myotonic dystrophy1 recruitingView → Lateral meningocele syndrome1 recruitingView → Lathosterolosis1 recruitingView → Lattice corneal dystrophy type IOphthalmologicalView → Laubry-Pezzi syndromeView → Laurence-Moon syndrome7 recruitingView → Laurin-Sandrow syndromeView → LCAT deficiency2 recruitingView → Lead poisoning1 recruitingView → Leber Congenital Amaurosis4 recruitingOphthalmologicalView → Leber Hereditary Optic Neuropathy9 recruitingMitochondrialView → Leber plus disease8 recruitingView → Ledderhose diseaseView → Left isomerism1 recruitingView → Left Ventricular Noncompaction3 recruitingCardiovascularView → Legg-Calvé-Perthes disease5 recruitingView → Legionnaires diseaseView → Legius syndrome3 recruitingView → Leigh Syndrome6 recruitingMitochondrialView → Leigh syndrome with cardiomyopathy2 recruitingNeuromuscularView → Leigh syndrome with leukodystrophy1 recruitingNeurologicalView → Leigh syndrome with nephrotic syndromeMitochondrialView → Leiomyosarcoma37 recruitingOncologyView → Leiomyosarcoma of small intestine3 recruitingOncologyView → Leiomyosarcoma of the cervix uteri1 recruitingOncologyView → Leiomyosarcoma of the corpus uteri5 recruitingOncologyView → Leishmaniasis16 recruitingView → Lelis syndromeView → Lemierre syndromeView → Lennox-Gastaut Syndrome5 recruitingNeurologicalView → Lens position anomalyGroupView → Lens position anomaly of genetic originGroupView → Lens shape anomalyGroupView → Lens size anomalyGroupView → Lens size anomaly of genetic originGroupView → Lenz-Majewski hyperostotic dysplasiaView → Leprosy8 recruitingView → Leptospirosis4 recruitingView → Leri pleonosteosisView → Léri-Weill dyschondrosteosisView → Lesch-Nyhan syndrome1 recruitingView → Lethal acantholytic erosive disorderView → Lethal arteriopathy syndrome due to fibulin-4 deficiencyView → Lethal ataxia with deafness and optic atrophy3 recruitingNeurologicalView → Lethal brain and heart developmental defects1 recruitingView → Lethal chondrodysplasiaGroupView → Lethal congenital contracture syndrome type 12 recruitingView → Lethal congenital contracture syndrome type 22 recruitingView → Lethal congenital contracture syndrome type 32 recruitingView → Lethal faciocardiomelic dysplasiaView → Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndromeRenalView → Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndromeView → Lethal hemolytic anemia-genital anomalies syndromeBloodView → Lethal hydranencephaly-diaphragmatic hernia syndromeView → Lethal infantile mitochondrial myopathy1 recruitingNeuromuscularView → Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndromeView → Lethal Kniest-like dysplasiaView → Lethal Larsen-like syndromeView → Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndromeNeurologicalView → Lethal multiple congenital anomalies/dysmorphic syndromeGroupView → Lethal multiple pterygium syndromeView → Lethal neonatal spasticity-epileptic encephalopathy syndrome1 recruitingNeurologicalView → Lethal occipital encephalocele-skeletal dysplasia syndromeConnective TissueView → Lethal omphalocele-cleft palate syndromeView → Lethal polymalformative syndrome, Boissel typeView → Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndromeNeurologicalView → Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutationNeurologicalView → Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene clusterNeurologicalView → Lethal recessive chondrodysplasia1 recruitingView → Lethal short-limb dwarfism, McAlister-Crane typeView → Leukocyte adhesion deficiency6 recruitingView → Leukocyte adhesion deficiency type I5 recruitingView → Leukocyte adhesion deficiency type II4 recruitingView → Leukocyte adhesion deficiency type IIIView → LeukodystrophyNeurologicalGroupView → Leukoencephalopathy with bilateral anterior temporal lobe cystsNeurologicalView → Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2 recruitingNeurologicalView → Leukoencephalopathy with calcifications and cysts3 recruitingNeurologicalView → Leukoencephalopathy with mild cerebellar ataxia and white matter edema1 recruitingNeurologicalView → Leukoencephalopathy-dystonia-motor neuropathy syndrome1 recruitingNeurologicalView → Leukoencephalopathy-palmoplantar keratoderma syndromeNeurologicalView → Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndromeNeurologicalView → Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndromeNeurologicalView → Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndromeView → Leukonychia totalisView → Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndromeView → LevocardiaView → Lewis-Pashayan syndromeView → Lewis-Sumner syndromeView → Leydig cell hypoplasiaView → Leydig cell hypoplasia due to complete LH resistanceView → Leydig cell hypoplasia due to LHB deficiencyView → Leydig cell hypoplasia due to partial LH resistanceView → Lhermitte-Duclos diseaseView → Li-Fraumeni syndrome12 recruitingView → Lichen amyloidosis1 recruitingView → Lichen planus pemphigoidesView → Lichen planus pigmentosus1 recruitingView → Lichtenstein syndromeView → Liddle syndrome1 recruitingView → LIG4 syndrome1 recruitingView → Light and heavy chain deposition disease3 recruitingView → Light Chain Amyloidosis54 recruitingCardiovascularView → Light chain deposition disease4 recruitingView → Ligneous conjunctivitisView → Limb body wall complexView → Limb-Girdle Muscular Dystrophy6 recruitingNeuromuscularView → Limb-girdle muscular dystrophy due to POMK deficiencyNeuromuscularView → Limb-mammary syndrome1 recruitingView → Limbal stem cell deficiency7 recruitingView → Limited cutaneous systemic sclerosis1 recruitingView → Limited systemic sclerosis5 recruitingView → Linear and whorled nevoid hypermelanosisView → Linear atrophoderma of MoulinView → Linear focal elastosisView → Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesView → Linear IgA dermatosisView → Linear lichen planusView → Linear nevus sebaceus syndromeView → Linear verrucous nevus syndromeView → LIPE-related familial partial lipodystrophyView → Lipid storage diseaseMetabolicGroupView → Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathyNeuromuscularView → LipoblastomaOncologyView → Lipodystrophy due to peptidic growth factors deficiencyView → Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndromeView → Lipodystrophy-intellectual disability-deafness syndromeView → Lipoic acid biosynthesis defectGroupView → Lipoic acid synthetase deficiencyView → Lipoid proteinosisView → Lipomatous non-saccular limited dorsal myeloschisisView → LipomyelomeningoceleView → Lipoprotein glomerulopathyRenalView → Liposarcoma35 recruitingOncologyView → Lipoyl transferase 1 deficiencyView → Lisch epithelial corneal dystrophyOphthalmologicalView → LissencephalyNeurologicalGroupView → Lissencephaly due to LIS1 mutationNeurologicalView → Lissencephaly due to TUBA1A mutationNeurologicalView → Lissencephaly syndrome, Norman-Roberts typeNeurologicalView → Lissencephaly type 1 due to doublecortin gene mutationNeurologicalView → Lissencephaly type 3-familial fetal akinesia sequence syndromeNeurologicalView → Lissencephaly type 3-metacarpal bone dysplasia syndromeNeurologicalView → Lissencephaly with cerebellar hypoplasia type ANeurologicalView → Lissencephaly with cerebellar hypoplasia type BNeurologicalView → Lissencephaly with cerebellar hypoplasia type CNeurologicalView → Lissencephaly with cerebellar hypoplasia type DNeurologicalView → Lissencephaly with cerebellar hypoplasia type ENeurologicalView → Lissencephaly with cerebellar hypoplasia type FNeurologicalView → Listeriosis1 recruitingView → Littoral cell hemangioma of the spleenView → Livedoid vasculopathy3 recruitingView → Liver adenomatosisView → LMNA-related cardiocutaneous progeria syndromeView → Lobar holoprosencephalyView → Localized dystrophic epidermolysis bullosaDermatologicalView → Localized dystrophic epidermolysis bullosa, acral formDermatologicalView → Localized dystrophic epidermolysis bullosa, nails onlyDermatologicalView → Localized dystrophic epidermolysis bullosa, pretibial formDermatologicalView → Localized epidermolysis bullosa simplexDermatologicalView → Localized junctional epidermolysis bullosaDermatologicalView → Localized lichen myxedematosus with mixed features of different subtypesView → Localized lichen myxedematosus with monoclonal gammopathy or systemic symptomsView → Localized pagetoid reticulosisView → Localized pleural mesotheliomaRespiratoryView → Localized scleroderma5 recruitingView → Locked-in syndrome6 recruitingView → Loeffler endocarditisView → Loeys-Dietz Syndrome4 recruitingConnective TissueView → Logopenic progressive aphasia7 recruitingView → Loiasis2 recruitingView → Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 recruitingView → Long chain acyl-CoA dehydrogenase deficiency3 recruitingView → Long QT Syndrome15 recruitingCardiovascularView → Longitudinal vaginal septumView → Loose anagen syndromeView → Low oxygen affinity alpha chain hemoglobin diseaseView → Low oxygen affinity beta chain hemoglobin diseaseView → Low oxygen affinity gamma chain hemoglobin diseaseView → Low oxygen affinity hemoglobin diseaseView → Low phospholipid-associated cholelithiasisView → Low-grade neuroendocrine tumor of the corpus uteriEndocrineView → Lowe-Kohn-Cohen syndromeView → Lower limb hypertrophyView → Lower limb malformation-hypospadias syndromeView → Lower motor neuron syndrome with late-adult onsetNeuromuscularView → Lowry-MacLean syndromeView → Lowry-Wood syndrome2 recruitingView → LRP5-related primary osteoporosisView → Lujan-Fryns syndromeView → Lujo hemorrhagic feverView → LUMBAR syndrome16 recruitingView → Lung agenesis-heart defect-thumb anomalies syndromeView → Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndromeImmuneView → Lupus erythematosus panniculitisView → Lupus erythematosus tumidusView → Luscan-Lumish syndromeView → Lyme disease24 recruitingView → Lymphangioleiomyomatosis10 recruitingRespiratoryView → Lymphatic filariasis7 recruitingView → Lymphatic-venous malformation6 recruitingView → Lymphedema with yellow nailsView → Lymphedema-atrial septal defects-facial changes syndromeView → Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndromeRespiratoryView → Lymphedema-distichiasis syndromeView → Lymphedema-posterior choanal atresia syndromeView → Lymphedema-ptosis syndromeView → Lymphocytic hypereosinophilic syndromeView → Lymphocytic mastitisView → Lymphoepithelial cyst of the pancreasView → Lymphoepithelial-like carcinoma5 recruitingOncologyView → Lymphoid hemopathyGroupView → Lymphoid interstitial pneumonia2 recruitingView → LymphomaBloodGroupView → Lymphomatoid granulomatosis3 recruitingBloodView → Lymphomatoid papulosis3 recruitingBloodView → Lymphoplasmacytic inflammatory pseudotumor of the liverView → Lymphoplasmacytic lymphoma without IgM productionBloodView → Lymphoproliferative disease associated with primary immune diseaseGroupView → Lynch syndrome40 recruitingView → Lysinuric protein intoleranceView → Lysosomal acid lipase deficiency3 recruitingView → Lysosomal acid phosphatase deficiencyView → Lysosomal diseaseGroupView → Lysosomal disease with epilepsyNeurologicalGroupView → Lysosomal disease with hypertrophic cardiomyopathyNeuromuscularGroupView → Lysosomal disease with restrictive cardiomyopathyNeuromuscularGroupView → Lysosomal glycogen storage diseaseMetabolicGroupView → Lysosomal storage disease with skeletal involvementMetabolicGroupView → OBSOLETE: Laminopathy type Decaudain-VigourouxRetired termView → OBSOLETE: Langerhans cell histiocytosis in childhood and adulthoodImmuneRetired termView → OBSOLETE: Langerhans cell histiocytosis specific to adulthoodImmuneRetired termView → OBSOLETE: Langerhans cell histiocytosis specific to childhoodImmuneRetired termView → OBSOLETE: Laryngeal dyskinesiaRetired termView → OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndromeRespiratoryRetired termView → OBSOLETE: Late infantile neuronal ceroid lipofuscinosisNeurologicalRetired termView → OBSOLETE: LeptomyelolipomaRetired termView → OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndromeRenalRetired termView → OBSOLETE: Lethal chondrodysplasia, Moerman typeRetired termView → OBSOLETE: Lethal chondrodysplasia, Seller typeRetired termView → OBSOLETE: Lethal idiopathic viral infectionRetired termView → OBSOLETE: Levodopa-unresponsive juvenile parkinsonismNeurologicalRetired termView → OBSOLETE: Limb dystoniaRetired termView → OBSOLETE: Limb-girdle bone anomalyRetired termView → OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigensRetired termView → OBSOLETE: Limbic encephalitis with caspr2 antibodiesRetired termView → OBSOLETE: Limbic encephalitis with DPP6 antibodiesRetired termView → OBSOLETE: Limbic encephalitis with LGI1 antibodiesRetired termView → OBSOLETE: Limbic encephalitis with nCMAgs antibodiesRetired termView → OBSOLETE: Limbic encephalitis with neurexin-3 antibodiesRetired termView → OBSOLETE: LIMS2-related myopathyNeuromuscularRetired termView → OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndromeNeurologicalRetired termView → OBSOLETE: Localized epiphyseal dysplasiaRetired termView → OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndromeRetired termView → OBSOLETE: Low isolated anorectal malformationRetired termView → OBSOLETE: Low-grade ependymomaRetired termView → OBSOLETE: Lown-Ganong-Levine syndromeRetired termView → OBSOLETE: Lumbosacral spina bifida apertaRetired termView → OBSOLETE: Lumbosacral spina bifida cysticaRetired termView → OBSOLETE: LymphedemaRetired termView → OBSOLETE: Lymphedema praecoxRetired termView → OBSOLETE: Lymphedema tardaRetired termView → OBSOLETE: Lymphedema-cleft palate syndromeRetired termView → OBSOLETE: Lymphoadenopathic mastocytosis with eosinophiliaRetired termView → OBSOLETE: Lymphocytic colitisRetired termView →