Genetic diseases-L

• L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
• l-arginine:glycine amidinotransferase deficiency see Arginine:glycine amidinotransferase deficiency
• l-arginine:glycine aminidotransferase deficiency see Arginine:glycine amidinotransferase deficiency
• L-CMD see LMNA-related congenital muscular dystrophy
• L-xylulose reductase deficiency see Essential pentosuria
• L-xylulosuria see Essential pentosuria
• L1 syndrome
• labile factor deficiency see Factor V deficiency
• Lacrimo-auriculo-dento-digital syndrome
• lacrimoauriculodentodigital syndrome see Lacrimo-auriculo-dento-digital syndrome
• Lactate dehydrogenase deficiency
• lactate dehydrogenase subunit deficiencies see Lactate dehydrogenase deficiency
• lactic acidosis due to LAD deficiency see Dihydrolipoamide dehydrogenase deficiency
• lactic acidosis due to lipoamide dehydrogenase deficiency see Dihydrolipoamide dehydrogenase deficiency
• Lactose intolerance
• lactose malabsorption see Lactose intolerance
• LAD1 see Leukocyte adhesion deficiency type 1
• LADD syndrome see Lacrimo-auriculo-dento-digital syndrome
• Lafora body disease see Lafora progressive myoclonus epilepsy
• Lafora disease see Lafora progressive myoclonus epilepsy
• Lafora progressive myoclonic epilepsy see Lafora progressive myoclonus epilepsy
• Lafora progressive myoclonus epilepsy
• Lafora type progressive myoclonic epilepsy see Lafora progressive myoclonus epilepsy
• lagophthalmia with bilateral cleft lip and palate see Blepharocheilodontic syndrome
• LAH see Autosomal recessive hypotrichosis
• Laing distal myopathy
• Laing early-onset distal myopathy see Laing distal myopathy
• LAL deficiency see Lysosomal acid lipase deficiency
• LAM see Lymphangioleiomyomatosis
• LAMA2 MD see LAMA2-related muscular dystrophy
• LAMA2-related muscular dystrophy
• LAMB - Lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome see Carney complex
• Lamellar ichthyosis
• laminin alpha 2 deficiency see LAMA2-related muscular dystrophy
• laminin alpha-2 deficient muscular dystrophy see LAMA2-related muscular dystrophy
• LAMM syndrome see Congenital deafness with labyrinthine aplasia, microtia, and microdontia
• Landry-Guillain-Barre syndrome see Guillain-Barré syndrome
• Langer mesomelic dwarfism see Langer mesomelic dysplasia
• Langer mesomelic dysplasia
• Langer-Giedion syndrome see Trichorhinophalangeal syndrome type II
• Langerhans cell granulomatosis see Langerhans cell histiocytosis
• Langerhans cell histiocytosis
• LAPS syndrome see Myhre syndrome
• large-headed multiflagellar polyploid spermatozoa see Macrozoospermia
• Laron dwarfism see Laron syndrome
• Laron syndrome
• Laron-type dwarfism see Laron syndrome
• Laron-type isolated somatotropin defect see Laron syndrome
• Laron-type pituitary dwarfism see Laron syndrome
• Laron-type short stature see Laron syndrome
• Larsen syndrome
• Laryngo-onycho-cutaneous syndrome
• laryngoonychocutaneous syndrome see Laryngo-onycho-cutaneous syndrome
• laryngotracheal stenosis, arthropathy, prognathism, and short stature see Myhre syndrome
• late onset idiopathic scoliosis see Adolescent idiopathic scoliosis
• late onset spondyloepiphyseal dysplasia see X-linked spondyloepiphyseal dysplasia tarda
• late-infantile Batten disease see CLN2 disease
• late-infantile neuronal ceroid lipofuscinosis see CLN5 disease
• late-infantile neuronal ceroid lipofuscinosis see CLN2 disease
• late-onset biotin-responsive multiple carboxylase deficiency see Biotinidase deficiency
• late-onset lymphedema see Meige disease
• late-onset multiple carboxylase deficiency see Biotinidase deficiency
• lateral facial dysplasia see Craniofacial microsomia
• Lateral meningocele syndrome
• Lattice corneal dystrophy type I
• Lattice corneal dystrophy type II
• lattice corneal dystrophy, gelsolin type see Lattice corneal dystrophy type II
• Lauber's disease see Fundus albipunctatus
• LBATC see RNAse T2-deficient leukoencephalopathy
• LBD see Dementia with Lewy bodies
• LBSL see Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
• LCA see Leber congenital amaurosis
• LCAT deficiency see Complete LCAT deficiency
• LCATA deficiency see Fish-eye disease
• LCH see Leydig cell hypoplasia
• LCH see Langerhans cell histiocytosis
• LCH see Lissencephaly with cerebellar hypoplasia
• LCHAD deficiency see Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• LCPD see Legg-Calvé-Perthes disease
• LDH deficiency see Lactate dehydrogenase deficiency
• LDS see Loeys-Dietz syndrome
• Le Merrer syndrome see 3-M syndrome
• LE syndrome see Systemic lupus erythematosus
• Leber abiotrophy see Leber congenital amaurosis
• Leber congenital amaurosis
• Leber congenital tapetoretinal degeneration see Leber congenital amaurosis
• Leber hereditary optic atrophy see Leber hereditary optic neuropathy
• Leber hereditary optic neuropathy
• Leber optic atrophy see Leber hereditary optic neuropathy
• Leber's amaurosis see Leber congenital amaurosis
• Leber's hereditary optic neuropathy see Leber hereditary optic neuropathy
• Leber's optic atrophy see Leber hereditary optic neuropathy
• Leber's optic neuropathy see Leber hereditary optic neuropathy
• lecithin acyltransferase deficiency see Complete LCAT deficiency
• lecithin:cholesterol acyltransferase deficiency see Complete LCAT deficiency
• left isomerism see Heterotaxy syndrome
• left ventricular hypertrabeculation see Left ventricular noncompaction
• left ventricular myocardial noncompaction cardiomyopathy see Left ventricular noncompaction
• left ventricular non-compaction see Left ventricular noncompaction
• Left ventricular noncompaction
• Legg-Calvé-Perthes disease
• Legius syndrome
• Lehman syndrome see Lateral meningocele syndrome
• Leigh disease see 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's disease see Leigh syndrome
• leiomyomatosis and renal cell cancer see Hereditary leiomyomatosis and renal cell cancer
• Leisti-Hollander-Rimoin syndrome see Floating-Harbor syndrome
• Lenegre Lev disease see Progressive familial heart block
• Lennox-Gastaut syndrome
• lens subluxation see Isolated ectopia lentis
• lentiginosis profusa see Noonan syndrome with multiple lentigines
• lentiginosis, perioral see Peutz-Jeghers syndrome
• Lenz dysmorphogenic syndrome see Lenz microphthalmia syndrome
• Lenz dysplasia see Lenz microphthalmia syndrome
• Lenz microphthalmia syndrome
• Lenz syndrome see Lenz microphthalmia syndrome
• LEOPARD syndrome see Noonan syndrome with multiple lentigines
• LEPD see Congenital leptin deficiency
• leprechaunism see Donohue syndrome
• leprechaunism syndrome see Donohue syndrome
• Leprosy
• leptin deficiency see Congenital leptin deficiency
• Leptin receptor deficiency
• leptin receptor-related monogenic obesity see Leptin receptor deficiency
• Leri syndrome see Melorheostosis
• Leri's disease see Melorheostosis
• Leri-Weill dyschondrosteosis see Léri-Weill dyschondrosteosis
• Lesch-Nyhan disease see Lesch-Nyhan syndrome
• Lesch-Nyhan syndrome
• leucocyte adhesion deficiency type 1 see Leukocyte adhesion deficiency type 1
• leukemia, acute promyelocytic see Acute promyelocytic leukemia
• Leukocyte adhesion deficiency type 1
• leukocyte adhesion molecule deficiency type 1 see Leukocyte adhesion deficiency type 1
• leukodystrophy with oligodontia see Pol III-related leukodystrophy
• leukodystrophy with Rosenthal fibers see Alexander disease
• leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism see Pol III-related leukodystrophy
• leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism see Pol III-related leukodystrophy
• leukoencephalopathy with ataxia see CLCN2-related leukoencephalopathy
• leukoencephalopathy with bilateral anterior temporal lobe cysts see RNAse T2-deficient leukoencephalopathy
• Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
• leukoencephalopathy with mild cerebellar ataxia and white matter edema see CLCN2-related leukoencephalopathy
• leukoencephalopathy with swelling and a discrepantly mild course see Megalencephalic leukoencephalopathy with subcortical cysts
• 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 with white matter edema see CLCN2-related leukoencephalopathy
• leukoencephalopathy-ataxia-hypodontia-hypomyelination see Pol III-related leukodystrophy
• leukokeratosis of oral mucosa see White sponge nevus
• leukokeratosis, hereditary mucosal see White sponge nevus
• Lev syndrome see Progressive familial heart block
• Lev's disease see Progressive familial heart block
• Lev-Lenègre disease see Progressive familial heart block
• Levin syndrome 2 see Gnathodiaphyseal dysplasia
• Levy-Hollister syndrome see Lacrimo-auriculo-dento-digital syndrome
• Lewy body dementia see Dementia with Lewy bodies
• Lewy body disease see Dementia with Lewy bodies
• Leydig cell agenesis see Leydig cell hypoplasia
• Leydig cell hypoplasia
• LFS see Lujan syndrome
• LFS see Li-Fraumeni syndrome
• LGMD see Limb-girdle muscular dystrophy
• LGS see Lennox-Gastaut syndrome
• LGS see Trichorhinophalangeal syndrome type II
• LH resistance due to LH receptor deactivation see Leydig cell hypoplasia
• LHON see Leber hereditary optic neuropathy
• LHRH deficiency and ataxia see Gordon Holmes syndrome
• LI see Lamellar ichthyosis
• Li-Fraumeni syndrome
• Libman-Sacks disease see Systemic lupus erythematosus
• Liddle syndrome
• Liebenberg syndrome
• Limb-girdle muscular dystrophy
• limb-girdle syndrome see Limb-girdle muscular dystrophy
• limit dextrinosis see Glycogen storage disease type III
• LINCL see CLN2 disease
• lip pseudocleft-hemagiomatous branchial cyst syndrome see Branchio-oculo-facial syndrome
• lip-pit syndrome see Van der Woude syndrome
• LIPA deficiency see Lysosomal acid lipase deficiency
• lipase D deficiency see Familial lipoprotein lipase deficiency
• LIPC deficiency see Hepatic lipase deficiency
• LIPD deficiency see Familial lipoprotein lipase deficiency
• lipid granulomatosis see Erdheim-Chester disease
• lipid histiocytosis see Niemann-Pick disease
• lipid proteinosis see Lipoid proteinosis
• lipid transport defect of intestine see Chylomicron retention disease
• lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency see Short-chain acyl-CoA dehydrogenase deficiency
• lipoamide dehydrogenase deficiency see Dihydrolipoamide dehydrogenase deficiency
• lipodystrophy, congenital generalized see Congenital generalized lipodystrophy
• lipodystrophy, familial partial see Familial partial lipodystrophy
• lipodystrophy, partial, with Rieger anomaly and short stature see Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
• lipoglycoproteinosis see Lipoid proteinosis
• lipoid histiocytosis (kerasin type) see Gaucher disease
• Lipoid proteinosis
• lipoid proteinosis of Urbach and Wiethe see Lipoid proteinosis
• lipoidosis cutis et mucosae see Lipoid proteinosis
• lipoidproteinosis see Lipoid proteinosis
• lipomatosis dolorosa see Adiposis dolorosa
• Lipoprotein Deficiency Disease, HDL, Familial see Tangier disease
• lipoprotein lipase deficiency, familial see Familial lipoprotein lipase deficiency
• lipoproteinosis see Lipoid proteinosis
• LIS1 see Isolated lissencephaly sequence
• LIS2 see Lissencephaly with cerebellar hypoplasia
• LIS3 see Lissencephaly with cerebellar hypoplasia
• lissencephaly 2 see Lissencephaly with cerebellar hypoplasia
• lissencephaly 3 see Lissencephaly with cerebellar hypoplasia
• lissencephaly syndrome, Norman-Roberts type see Lissencephaly with cerebellar hypoplasia
• lissencephaly type 1 see Isolated lissencephaly sequence
• Lissencephaly with cerebellar hypoplasia
• lissencephaly, classic see Isolated lissencephaly sequence
• LISX2 see X-linked lissencephaly with abnormal genitalia
• liver form of carnitine palmitoyltransferase deficiency see Carnitine palmitoyltransferase I deficiency
• liver phosphorylase deficiency syndrome see Glycogen storage disease type VI
• LKPAT see CLCN2-related leukoencephalopathy
• LMD see Langer mesomelic dysplasia
• LMNA-related CMD see LMNA-related congenital muscular dystrophy
• LMNA-related congenital muscular dystrophy
• LMNB1-related adult-onset autosomal dominant leukodystrophy see Autosomal dominant leukodystrophy with autonomic disease
• LMPH2 see Meige disease
• LMS see Lateral meningocele syndrome
• LND see Lesch-Nyhan syndrome
• LNS see Lesch-Nyhan syndrome
• LO see Pol III-related leukodystrophy
• LOC syndrome see Laryngo-onycho-cutaneous syndrome
• LOCS see Laryngo-onycho-cutaneous syndrome
• Loeys-Dietz aortic aneurysm syndrome see Loeys-Dietz syndrome
• Loeys-Dietz syndrome
• LOGIC syndrome see Laryngo-onycho-cutaneous syndrome
• Loken-Senior syndrome see Senior-Løken syndrome
• long QT syndrome 7 see Andersen-Tawil syndrome
• Long QT syndrome with syndactyly see Timothy syndrome
• long-chain 3-hydroxy acyl CoA dehydrogenase deficiency see Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency see Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• long-chain 3-OH acyl-CoA dehydrogenase deficiency see Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• long-sighted see Farsightedness
• long-sightedness see Farsightedness
• Lou Gehrig disease see Amyotrophic lateral sclerosis
• Louis-Bar syndrome see Ataxia-telangiectasia
• low gamma-GT familial intrahepatic cholestasis see Benign recurrent intrahepatic cholestasis
• low serum HDL cholesterol see Familial HDL deficiency
• low γ-GT familial intrahepatic cholestasis see Progressive familial intrahepatic cholestasis
• Lowe oculocerebrorenal syndrome see Lowe syndrome
• Lowe syndrome
• lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures see Spinal muscular atrophy with lower extremity predominance
• lower motor neuron degeneration with Paget-like bone disease see Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• LPI see Lysinuric protein intolerance
• LPI - Lysinuric protein intolerance see Lysinuric protein intolerance
• LQT7 see Andersen-Tawil syndrome
• LQT8 see Timothy syndrome
• LRCC see Hereditary leiomyomatosis and renal cell cancer
• LRS see Larsen syndrome
• LTBL see Leukoencephalopathy with thalamus and brainstem involvement and high lactate
• Lubag see X-linked dystonia-parkinsonism
• Lubs X-linked mental retardation syndrome see MECP2 duplication syndrome
• Lujan syndrome
• Lujan-Fryns syndrome see Lujan syndrome
• Lundborg-Unverricht syndrome see Unverricht-Lundborg disease
• Lung cancer
• lung malignancies see Lung cancer
• lung malignant tumors see Lung cancer
• lung neoplasms see Lung cancer
• lupus see Systemic lupus erythematosus
• Luschka-Magendie foramina atresia see Dandy-Walker malformation
• LVHT see Left ventricular noncompaction
• LVM see Megalencephalic leukoencephalopathy with subcortical cysts
• LWD see Léri-Weill dyschondrosteosis
• Lyell's syndrome see Stevens-Johnson syndrome/toxic epidermal necrolysis
• Lyme borreliosis see Lyme disease
• Lyme disease
• Lymphangioleiomyomatosis
• lymphangiomyomatosis see Lymphangioleiomyomatosis
• lymphedema praecox see Meige disease
• lymphedema with distichiasis see Lymphedema-distichiasis syndrome
• Lymphedema-distichiasis syndrome
• lymphedema-lymphangiectasia-intellectual disability syndrome see Hennekam syndrome
• lymphocytic thyroiditis see Hashimoto thyroiditis
• Lynch syndrome
• lysine alpha-ketoglutarate reductase deficiency disease see Hyperlysinemia
• Lysinuric protein intolerance
• Lysosomal acid lipase deficiency
• lysosomal alpha B mannosidosis see Alpha-mannosidosis
• lysosomal alpha-D-mannosidase deficiency see Alpha-mannosidosis
• lysosomal beta A mannosidosis see Beta-mannosidosis
• lysosomal beta-mannosidase deficiency see Beta-mannosidosis
• lysosomal glycoaminoacid storage disease-angiokeratoma corporis diffusum see Schindler disease
• lysosomal glycogen storage disease with normal acid maltase see Danon disease
• lysosomal protective protein deficiency see Galactosialidosis