Health Conditions
Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.
- 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-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-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
- Late-onset spondyloepiphyseal dysplasia, see X-linked spondyloepiphyseal dysplasia tarda
- 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 lissencephaly with cerebellar hypoplasia
- LCH, see Leydig cell hypoplasia
- LCH, see Langerhans cell histiocytosis
- 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
- leptin deficiency, see congenital leptin deficiency
- leptin receptor deficiency
- leptin receptor-related monogenic obesity, see leptin receptor deficiency
- 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 bilateral anterior temporal lobe cysts, see RNAse T2-deficient leukoencephalopathy
- leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
- 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-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
- LMD, see Langer mesomelic dysplasia
- 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
- 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 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
- 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
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