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- L-2-HGA
- L-2-hydroxyglutaric acidemia
- L-2-hydroxyglutaric aciduria
- L-ACAOS
- L-Arginine:glycine amidinotransferase deficiency
- L-CMD
- L-CPT1 deficiency
- L-CPTI deficiency
- L-ferritin deficiency
- L-glyceric aciduria
- L-transposition of the great arteries
- L1 syndrome
- L1CAM syndrome
- La Crosse encephalitis
- Laband syndrome
- Labrune syndrome
- Lacrimal drainage system anomaly
- Lacrimal drainage system anomaly of genetic origin
- Lacrimoauriculodentodigital syndrome
- Lacrimoauriculoradiodental syndrome
- Lactate dehydrogenase A deficiency
- Lactate dehydrogenase B deficiency
- Lactotroph adenoma
- LAD
- LAD-1 variant
- LAD-I
- LAD-II
- LAD-III
- LADD syndrome
- Ladda-Zonana-Ramer syndrome
- Lafora disease
- Lagophthalmia-cleft lip and palate syndrome
- LAI
- Laing distal myopathy
- LAL deficiency
- LALD
- LAM
- LAMA2-related muscular dystrophy
- LAMA5-related multisystemic syndrome
- Lamb-Shaffer syndrome
- Lambert syndrome
- Lambert-Eaton myasthenic syndrome
- Lamellar ichthyosis
- Laminin subunit alpha 2-related congenital muscular dystrophy
- Laminin subunit alpha 2-related late-onset muscular dystrophy
- Laminin subunit alpha 2-related LGMD R23
- Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23
- Laminin subunit alpha 2-related muscular dystrophy
- Laminopathy
- Laminopathy with lipodystrophy
- Laminopathy with peripheral neuropathy
- Laminopathy with premature aging
- Laminopathy with striated muscle involvement
- LAMM syndrome
- Landau-Kleffner syndrome
- Landing disease
- Landouzy-Dejerine dystrophy
- Landouzy-Dejerine myopathy
- Lane disease
- Langer mesomelic dysplasia
- Langer-Giedion syndrome
- Langerhans cell granulomatosis
- Langerhans cell histiocytosis
- Langerhans cell sarcoma
- Laparoschisis
- LARD syndrome
- Large cell lymphoma of the mediastinum
- Large granular lymphocyte leukemia
- Large segmental hemangioma
- Large/giant CMN syndrome
- Large/giant congenital melanocytic nevus
- Large/giant congenital pigmented nevus
- Laron syndrome
- Laron syndrome with immunodeficiency
- Laron-like syndrome
- Laron-type dwarfism
- Larsen syndrome
- Larsen-like osseous dysplasia-short stature syndrome
- Larsen-like syndrome, B3GAT3 type
- Laryngeal abductor paralysis
- Laryngeal abductor paralysis-intellectual disability syndrome
- Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome
- Laryngeal neuroendocrine tumor
- Laryngo-onycho-cutaneous syndrome
- Laryngo-tracheo-esophageal cleft
- Laryngo-tracheo-esophageal cleft type 0
- Laryngo-tracheo-esophageal cleft type 1
- Laryngo-tracheo-esophageal cleft type 2
- Laryngo-tracheo-esophageal cleft type 3
- Laryngo-tracheo-esophageal cleft type 4
- Laryngo-tracheo-esophageal diastema
- Laryngocele
- Laryngotracheal angioma
- Laryngotracheoesophageal cleft
- Laryngotracheoesophageal cleft type 0
- Laryngotracheoesophageal cleft type 1
- Laryngotracheoesophageal cleft type 2
- Laryngotracheoesophageal cleft type 3
- Laryngotracheoesophageal cleft type 4
- Larynx anomaly
- Larynx atresia
- Lassa fever
- Lassa hemorrhagic fever
- Late hereditary endothelial dystrophy
- Late infantile CACH syndrome
- Late-infantile GM1 gangliosidosis
- Late-infantile/juvenile Krabbe disease
- Late-onset ataxia with dementia
- Late-onset benign childhood occipital epilepsy
- Late-onset CID due to ICOS deficiency
- Late-onset CID due to ICOSL deficiency
- Late-onset citrullinemia type 1
- Late-onset citrullinemia type I
- Late-onset combined immunodeficiency due to ICOS deficiency
- Late-onset combined immunodeficiency due to ICOSL deficiency
- Late-onset combined immunodeficiency due to inducible T cell costimulator ligand protein deficiency
- Late-onset combined immunodeficiency due to inducible T-cell costimulator protein deficiency
- Late-onset distal crystallinopathy
- Late-onset distal myopathy, Markesbery-Griggs type
- Late-onset familial encephalopathy with neuroserpin inclusion bodies
- Late-onset familial hyperreninemic hypoaldosteronism
- Late-onset familial hypoaldosteronism
- Late-onset focal dermal elastosis
- Late-onset infantile spasms
- Late-onset isolated ACTH deficiency
- Late-onset JEB
- Late-onset junctional epidermolysis bullosa
- Late-onset localized JEB-intellectual disability syndrome
- Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
- Late-onset multiple carboxylase deficiency
- Late-onset myotonic dystrophy type 1
- Late-onset nephronophthisis
- Late-onset primary lymphedema without systemic or visceral involvement
- Late-onset retinal degeneration
- Late-onset scapuloperoneal muscular dystrophy with hyaline bodies
- Late-onset scapuloperoneal syndrome, myopathic type
- Late-onset spinal motor neuronopathy
- Late-onset SPMD with hyaline bodies
- Late-onset Steinert disease
- Late-onset Steinert myotonic dystrophy
- Late-onset Tay-Sachs disease
- Lateral facial cleft
- Lateral meningocele syndrome
- Lateralization defect
- Lathosterolosis
- Lattice corneal dystrophy type 1
- Lattice corneal dystrophy type I
- Laubry-Pezzi syndrome
- Launois-Bensaude lipomatosis
- Laurence-Moon syndrome
- Laurin-Sandrow syndrome
- Lawrence syndrome
- Lawrence-Seip syndrome
- Laxova-Opitz syndrome
- LBSL
- LBWC syndrome
- LC
- LCA
- LCAH
- LCAT deficiency
- LCC
- LCCS
- LCCS1
- LCCS2
- LCCS3
- LCCS5
- LCD1
- LCDD
- LCDI
- LCH
- LCHAD deficiency
- LCHADD
- LCM
- LCPS
- LDD
- LDH deficiency
- LDH-H subunit deficiency
- LDH-M subunit deficiency
- LDM
- Lead intoxication
- Lead poisoning
- Learman syndrome
- Leber congenital amaurosis
- Leber hereditary optic neuropathy
- Leber miliary aneurysm
- Leber optic atrophy
- Leber plus disease
- LECD
- Lecithin-cholesterol acyltransferase deficiency
- Ledderhose disease
- Left bronchial isomerism without heterotaxy
- Left coronary artery from right aortic sinus
- Left renal vein entrapment syndrome
- Left sided atrial isomerism
- Left ventricular hypertrabeculation
- Left ventricular noncompaction
- Left ventricular-to-right atrial communication
- Leg duplication-mirror foot syndrome
- Legg-Calvé-Perthes disease
- Legionella infection
- Legionellosis
- Legionnaires disease
- Legius syndrome
- Lehman syndrome
- Leichtman-Wood-Rohn syndrome
- Leigh disease
- Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency
- Leigh syndrome
- Leigh syndrome due to PC deficiency
- Leigh syndrome due to pyruvate carboxylase deficiency
- Leigh syndrome, French-Canadian type
- Leigh syndrome, Saguenay-Lac-Saint-Jean type
- Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome
- Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome
- Leiner disease
- Leiomyomatosis peritonealis disseminate
- Leiomyosarcoma
- Leiomyosarcoma of small intestine
- Leiomyosarcoma of the cervix uteri
- Leiomyosarcoma of the corpus uteri
- Leishmaniasis
- Lelis syndrome
- LEMD2-associated nuclear envelopathy with early progeroid appearance
- Lemierre postanginal sepsis
- Lemierre syndrome
- Lenk-Ploski syndrome
- Lennox-Gastaut syndrome
- Lens position anomaly
- Lens position anomaly of genetic origin
- Lens shape anomaly
- Lens size anomaly
- Lens size anomaly of genetic origin
- Lens-induced endophthalmitis
- Lens-induced iridocyclitis
- Lens-induced uveitis
- Lenz microphthalmia
- Lenz-Majewski hyperostotic dwarfism
- LEOPARD syndrome
- Lepore-beta-thalassemia syndrome
- Leprosy
- Leptomeningeal melanomatosis
- Leptospirosis
- Leri pleonosteosis
- Lesch-Nyhan syndrome
- Lethal 1p36.33 deletion syndrome
- Lethal acantholytic erosive disorder
- Lethal arteriopathy syndrome due to fibulin-4 deficiency
- Lethal ataxia with deafness and optic atrophy
- Lethal ataxia with hearing loss and optic atrophy
- Lethal brain and heart developmental defects
- Lethal chondrodysplasia
- Lethal congenital contracture syndrome
- Lethal congenital contracture syndrome type 1
- Lethal congenital contracture syndrome type 2
- Lethal congenital contracture syndrome type 3
- Lethal congenital contracture syndrome type 5
- Lethal faciocardiomelic dysplasia
- Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
- Lethal hemolytic anemia-genital anomalies syndrome
- Lethal hydranencephaly-diaphragmatic hernia syndrome
- Lethal hydrocephalus-cardiac malformation-dense bones syndrome
- Lethal hyperkeratosis-contracture syndrome
- Lethal infantile mitochondrial disease
- Lethal infantile mitochondrial myopathy
- Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
- Lethal Kniest-like dysplasia
- Lethal Larsen-like syndrome
- Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
- Lethal midline granuloma
- Lethal multiple congenital anomalies/dysmorphic syndrome
- Lethal multiple pterygium syndrome
- Lethal neonatal rigidity-multifocal seizure syndrome
- Lethal neonatal spasticity-epileptic encephalopathy syndrome
- Lethal neurodegenerative disorder due to copper transport defect
- Lethal occipital encephalocele-skeletal dysplasia syndrome
- Lethal omphalocele-cleft palate syndrome
- Lethal osteogenesis imperfecta
- Lethal polymalformative syndrome, Boissel type
- Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome
- Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation
- Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster
- Lethal popliteal pterygium syndrome
- Lethal recessive chondrodysplasia
- Lethal restrictive dermopathy
- Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome
- Lethal tight skin-contracture syndrome
- Letrozole toxicity
- Leukemic reticuloendotheliosis
- Leukemic reticuloendotheliosis variant
- Leukocyte adhesion deficiency
- Leukocyte adhesion deficiency type I
- Leukocyte adhesion deficiency type II
- Leukocyte adhesion deficiency type III
- Leukocyte adhesion deficiency-1 variant
- Leukocyte chemotactic factor-2 amyloidosis
- Leukodystrophy
- Leukodystrophy due to alkaline ceramidase 3 deficiency
- Leukodystrophy with oligodontia
- Leukoencephalopathy with bilateral anterior temporal lobe cysts
- Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome
- Leukoencephalopathy with calcifications and cysts
- Leukoencephalopathy with mild cerebellar ataxia and white matter edema
- Leukoencephalopathy with vanishing white matter
- Leukoencephalopathy-dystonia-motor neuropathy syndrome
- Leukoencephalopathy-metaphyseal chondrodysplasia syndrome
- Leukoencephalopathy-palmoplantar keratoderma syndrome
- Leukoencephalopathy-SEMD syndrome
- Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
- Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
- Leukonychia totalis
- Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
- Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome
- Leukotriene C4 synthase deficiency
- Levic-Stefanovic-Nikolic syndrome
- Levine-Critchley syndrome
- Levo-transposition of the great arteries
- Levocardia
- Levocardia with situs inversus
- Levy-Hollister syndrome
- Lewandowsky-Lutz syndrome
- Lewis-Sumner syndrome
- Leydig cell hypoplasia
- Leydig cell hypoplasia due to complete LH receptor inactivation
- Leydig cell hypoplasia due to complete LH resistance
- Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation
- Leydig cell hypoplasia due to complete luteinizing hormone resistance
- Leydig cell hypoplasia due to LHB deficiency
- Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency
- Leydig cell hypoplasia due to partial LH receptor inactivation
- Leydig cell hypoplasia due to partial LH resistance
- Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation
- Leydig cell hypoplasia due to partial luteinizing hormone resistance
- LF
- LGCMN
- LGL syndrome
- LGMD
- LGMD D5 collagen 6-related dystrophy
- LGMD D5 collagen VI-related dystrophy
- LGMD due to alpha-sarcoglycan deficiency
- LGMD due to beta-sarcoglycan deficiency
- LGMD due to delta-sarcoglycan deficiency
- LGMD due to dysferlin deficiency
- LGMD due to FKRP deficiency
- LGMD due to gamma-sarcoglycan deficiency
- LGMD due to POMK deficiency
- LGMD due to telethonin deficiency
- LGMD due to TRIM32 deficiency
- LGMD R22 collagen 6-related dystrophy
- LGMD R22 collagen VI-related dystrophy
- LGMD R25 BVES-related
- LGMD type 1D
- LGMD type 1F
- LGMD type 1G
- LGMD type 2A
- LGMD type 2B
- LGMD type 2C
- LGMD type 2D
- LGMD type 2E
- LGMD type 2F
- LGMD type 2G
- LGMD type 2H
- LGMD type 2I
- LGMD type 2J
- LGMD type 2K
- LGMD type 2L
- LGMD type 2M
- LGMD type 2N
- LGMD type 2O
- LGMD type 2P
- LGMD type 2Q
- LGMD type 2S
- LGMD type 2T
- LGMD type 2U
- LGMD type 2X
- LGMD type 2Y
- LGMD type 2Z
- LGMD type D4
- LGMD type R23
- LGMD type R24
- LGMD, type 28
- LGMD1A
- LGMD1D
- LGMD1F
- LGMD1G
- LGMD1I
- LGMD2A
- LGMD2B
- LGMD2C
- LGMD2D
- LGMD2E
- LGMD2F
- LGMD2G
- LGMD2H
- LGMD2I
- LGMD2J
- LGMD2K
- LGMD2L
- LGMD2M
- LGMD2N
- LGMD2O
- LGMD2P
- LGMD2Q
- LGMD2S
- LGMD2T
- LGMD2U
- LGMD2X
- LGMD2Y
- LGMD2Z
- LGMDR28
- LHCDD
- Lhermitte-Duclos disease
- LHON
- LHON plus disease
- LI
- Li-Fraumeni syndrome
- Liang-Wang syndrome
- Liberfarb syndrome
- Lichen amyloidosis
- Lichen amyloidosus
- Lichen follicularis
- Lichen myxedematosus
- Lichen planopilaris
- Lichen planus actinus
- Lichen planus follicularis
- Lichen planus pemphigoides
- Lichen planus pigmentosa
- Lichen planus pigmentosus
- Lichen planus pigmentosus inversus
- Lichen planus subtropicus
- Lichen planus tropicus
- Lichenoid melanodermatitis
- Lichtenstein syndrome
- Lichtenstein-Knorr syndrome
- Liddle syndrome
- Liebenberg syndrome
- LIG4 syndrome
- Ligase 4 syndrome
- Light and heavy chain deposition disease
- Light chain deposition disease
- Light-chain amyloidosis
- Limb body wall complex
- Limb fibromuscular dysplasia
- Limb-girdle muscular dystrophy
- Limb-girdle muscular dystrophy 2X
- Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency
- Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
- Limb-girdle muscular dystrophy due to calpain deficiency
- Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
- Limb-girdle muscular dystrophy due to dysferlin deficiency
- Limb-girdle muscular dystrophy due to FKRP deficiency
- Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
- Limb-girdle muscular dystrophy due to myotilin deficiency
- Limb-girdle muscular dystrophy due to POMK deficiency
- Limb-girdle muscular dystrophy due to telethonin deficiency
- Limb-girdle muscular dystrophy due to TRIM32 deficiency
- Limb-girdle muscular dystrophy type 1D
- Limb-girdle muscular dystrophy type 1F
- Limb-girdle muscular dystrophy type 1G
- Limb-girdle muscular dystrophy type 2A
- Limb-girdle muscular dystrophy type 2B
- Limb-girdle muscular dystrophy type 2C
- Limb-girdle muscular dystrophy type 2D
- Limb-girdle muscular dystrophy type 2E
- Limb-girdle muscular dystrophy type 2F
- Limb-girdle muscular dystrophy type 2G
- Limb-girdle muscular dystrophy type 2H
- Limb-girdle muscular dystrophy type 2I
- Limb-girdle muscular dystrophy type 2J
- Limb-girdle muscular dystrophy type 2K
- Limb-girdle muscular dystrophy type 2L
- Limb-girdle muscular dystrophy type 2N
- Limb-girdle muscular dystrophy type 2O
- Limb-girdle muscular dystrophy type 2P
- Limb-girdle muscular dystrophy type 2Q
- Limb-girdle muscular dystrophy type 2S
- Limb-girdle muscular dystrophy type 2T
- Limb-girdle muscular dystrophy type 2U
- Limb-girdle muscular dystrophy type 2Z
- Limb-girdle muscular dystrophy type D4
- Limb-girdle muscular dystrophy type R24
- Limb-girdle muscular dystrophy with epidermolysis bullosa simplex
- Limb-girdle muscular dystrophy with Paget disease of bone
- Limb-girdle muscular dystrophy-intellectual disability syndrome
- Limb-girdle, type 28R
- Limb-mammary syndrome
- Limbal stem cell deficiency
- Limbic encephalitis with N-methyl-D-aspartate receptor antibodies
- Limbic encephalitis with NMDA receptor antibodies
- Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome
- LIMD
- Limit dextrinosis
- Limited cutaneous systemic scleroderma
- Limited cutaneous systemic sclerosis
- Limited dorsal myeloschisis
- Limited systemic sclerosis
- LIMM
- Lindau disease
- Lindsay-Burn syndrome
- Linear and whorled nevoid hypermelanosis
- Linear atrophoderma of Moulin
- Linear focal dermal elastosis
- Linear focal elastosis
- Linear hamartoma syndrome
- Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
- Linear IgA dermatosis
- Linear lichen planus
- Linear LP
- Linear nevus sebaceus syndrome
- Linear verrucous nevus syndrome
- Linitis plastica of the stomach
- Lip-pit syndrome
- LIPE-related familial partial lipodystrophy
- LIPE-related FPLD
- Lipid storage disease
- Lipid storage myopathy
- Lipidosis with triglyceride storage disease
- Lipoamide dehydrogenase deficiency
- Lipoate biosynthesis defect
- Lipoatrophia semicircularis
- Lipoatrophy caused by injected drug
- Lipoblastoma
- Lipodystrophia centrifugalis abdominalis infantilis
- Lipodystrophy due to peptidic growth factors deficiency
- Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome
- Lipodystrophy-intellectual disability-deafness syndrome
- Lipodystrophy-intellectual disability-hearing loss syndrome
- Lipodystrophy-Rieger anomaly-diabetes syndrome
- Lipoic acid biosynthesis defect
- Lipoic acid synthetase deficiency
- Lipoid CAH
- Lipoid dermatoarthritis
- Lipoid proteinosis
- Lipoma of the filum terminale
- Lipomatosis dolorosa
- Lipomatous flat LDM
- Lipomatous flat limited dorsal myeloschisis
- Lipomatous mesenteritis
- Lipomatous non-saccular LDM
- Lipomatous non-saccular limited dorsal myeloschisis
- Lipomucopolysaccharidosis
- Lipoprotein glomerulopathy
- Liposarcoma
- Liposclerotic mesenteritis
- Lipoyl transferase 1 deficiency
- Lipoyl transferase 2 deficiency
- LIS
- Lisch epithelial corneal dystrophy
- Lisker-Garcia-Ramos syndrome
- Lison syndrome
- Lissencephaly
- Lissencephaly due to 17p13.3 deletion
- Lissencephaly due to LIS1 mutation
- Lissencephaly due to TUBA1A mutation
- Lissencephaly syndrome, Norman-Roberts type
- Lissencephaly type 1
- Lissencephaly type 1 due to doublecortin gene mutation
- Lissencephaly type 2
- Lissencephaly type 2 with muscular and ocular involvement
- Lissencephaly type 2 without muscular or eye involvement
- Lissencephaly type 2 without muscular or ocular involvement
- Lissencephaly type 3
- Lissencephaly type 3-familial fetal akinesia sequence syndrome
- Lissencephaly type 3-metacarpal bone dysplasia syndrome
- Lissencephaly with cerebellar hypoplasia
- Lissencephaly with cerebellar hypoplasia type A
- Lissencephaly with cerebellar hypoplasia type B
- Lissencephaly with cerebellar hypoplasia type C
- Lissencephaly with cerebellar hypoplasia type D
- Lissencephaly with cerebellar hypoplasia type E
- Lissencephaly with cerebellar hypoplasia type F
- Listeria infection
- Listeriosis
- Littoral cell angioma
- Littoral cell hemangioma of the spleen
- Livedo racemosa-cerebrovascular accident syndrome
- Livedo reticularis with summer ulcerations
- Livedo reticularis-cerebrovascular accident syndrome
- Livedo-like dermatitis
- Livedoid vasculopathy
- Liver adenomatosis
- Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome
- Liver glycogen phosphorylase deficiency
- LKS
- LM
- LMNA-related cardiocutaneous progeria syndrome
- LMNA-related congenital muscular dystrophy
- LMPS
- LMS
- LMS
- Lobar holoprosencephaly
- Lobstein disease
- LOC syndrome
- Localized AL amyloidosis
- Localized Castleman disease
- Localized DEB
- Localized DEB, acral form
- Localized DEB, nails only
- Localized DEB, pretibial form
- Localized dystrophic epidermolysis bullosa
- Localized dystrophic epidermolysis bullosa, acral form
- Localized dystrophic epidermolysis bullosa, nails only
- Localized dystrophic epidermolysis bullosa, pretibial form
- Localized EBS
- Localized epidermolysis bullosa simplex
- Localized fibrosing scleroderma
- Localized JEB
- Localized junctional epidermolysis bullosa
- Localized lichen myxedematosus
- Localized lichen myxedematosus with mixed features of different subtypes
- Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms
- Localized lipodystrophy
- Localized pagetoid reticulosis
- Localized pleural mesothelioma
- Localized PSS
- Localized pustular psoriasis
- Localized scleroderma
- Locked-in syndrome
- Loeffler endocarditis
- Loeys-Dietz syndrome
- LOGIC syndrome
- Logopenic primary progressive aphasia
- Logopenic progressive aphasia
- Logopenic variant PPA
- Loiasis
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Long eyelashes-intellectual disability syndrome
- Long QT interval-deafness syndrome
- Long QT interval-hearing loss syndrome
- Long QT syndrome type 7
- Long QT syndrome type 8
- Long QT syndrome-syndactyly syndrome
- Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
- Longitudinal vaginal septum
- Longman-Tolmie syndrome
- Loose anagen syndrome
- LOPD
- Lopes-Gorlin syndrome
- Lopes-Marques de Faria syndrome
- LORD
- Loricrin keratoderma
- LOSMoN
- Lou Gehrig disease
- Loucks-Innes syndrome
- Louis-Bar syndrome
- Low phospholipid-associated cholelithiasis
- Low-flow priapism
- Low-grade astrocytoma
- Low-grade neuroendocrine tumor of the corpus uteri
- Low-grade neuroendocrine tumor of the uterine corpus
- Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis
- Lowe disease
- Lowe oculo-cerebro-renal dystrophy
- Lowe oculo-cerebro-renal syndrome
- Lowe oculocerebrorenal dystrophy
- Lowe syndrome
- Lowe-Kohn-Cohen syndrome
- Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome
- Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy
- Lower limb hypertrophy
- Lower limb malformation-hypospadias syndrome
- Lower motor neuron syndrome with late-adult onset
- Lown-Ganong-Levine syndrome
- Lowry-MacLean syndrome
- Lowry-Wood syndrome
- Lowry-Yong syndrome
- LP pemphigoides
- LP pigmentosa
- LP pigmentosus
- LPA
- LPA
- LPAC
- LPD
- LPG
- LPI
- LPL deficiency
- LPP
- LPP
- LQT7
- LQT8
- LQT8 type 1
- LQT8 type 2
- LRP5-related primary osteoporosis
- LTBL
- LTC4 synthase deficiency
- LTEC
- LTEC I
- LTEC II
- LTEC III
- LTEC IV
- LTEC0
- LTEC1
- LTEC2
- LTEC3
- LTEC4
- Lubag
- Lubag syndrome
- Lubani-Al Saleh-Teebi syndrome
- Lubinsky syndrome
- Lucey-Driscoll syndrome
- Lujan-Fryns syndrome
- Lujo hemorrhagic fever
- LUMBAR syndrome
- Lunatomalacia
- Lundberg syndrome
- Lung agenesis-heart defect-thumb anomalies syndrome
- Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
- Lupus erythematosus panniculitis
- Lupus erythematosus profundus
- Lupus erythematosus tumidus
- Luscan-Lumish syndrome
- Luteal-phase-dependent febrile episode
- Luteal-phase-dependent periodic fever
- Luteinizing hormone-releasing hormone deficiency with ataxia
- LUTO
- Lutz-Lewandowsky epidermodysplasia verruciformis
- LVNC
- LWNH
- Lyell syndrome
- LYG
- Lyme borreliosis
- Lyme disease
- Lymphangioleiomyomatosis
- Lymphangioma
- Lymphatic filariasis
- Lymphedema with yellow nails
- Lymphedema-atrial septal defects-facial changes syndrome
- Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome
- Lymphedema-distichiasis syndrome
- Lymphedema-hypoparathyroidism syndrome
- Lymphedema-lymphangiectasia-intellectual disability syndrome
- Lymphedema-posterior choanal atresia syndrome
- Lymphocytic hypereosinophilic syndrome
- Lymphocytic interstitial pneumonia
- Lymphocytic mastitis
- Lymphocytic mastopathy
- Lymphocytic variant HES
- Lymphoepithelial cyst of the pancreas
- Lymphoepithelial-like carcinoma
- Lymphogranulomatosis X
- Lymphoid hemopathy
- Lymphoid HES
- Lymphoid interstitial pneumonia
- Lymphoma
- Lymphomatoid granulomatosis
- Lymphomatoid papulosis
- Lymphoplasmacytic inflammatory pseudotumor of the liver
- Lymphoplasmacytic lymphoma without IgM production
- Lymphoplasmacytic lymphoma without Immunoglobulin M production
- Lymphoplasmacytic sclerosing pancreatitis
- Lymphoproliferative disease associated with primary immune disease
- Lynch syndrome
- Lynch-Lee-Murday syndrome
- Lyngstadaas syndrome
- LyP
- Lysine alpha-ketoglutarate reductase deficiency
- Lysinuric protein intolerance
- Lysosomal acid lipase deficiency
- Lysosomal acid phosphatase deficiency
- Lysosomal alpha-D-mannosidase deficiency
- Lysosomal alpha-D-mannosidase deficiency, adult form
- Lysosomal alpha-D-mannosidase deficiency, infantile form
- Lysosomal disease
- Lysosomal disease with epilepsy
- Lysosomal disease with hypertrophic cardiomyopathy
- Lysosomal disease with restrictive cardiomyopathy
- Lysosomal glycogen storage disease
- Lysosomal glycogen storage disease with normal acid maltase activity
- Lysosomal membrane cobalamin transporter deficiency
- Lysosomal storage disease with skeletal involvement
- Lysozyme amyloidosis
- Lysyl hydroxylase-deficient EDS
- Lytico-Bodig disease
- Léri-Weill dyschondrosteosis
- Léri-Weill syndrome