List of rare diseases-L
From WikiMD's Wellnesspedia
NIH genetic and rare disease info[edit source]
List of rare diseases-L is a rare disease.
- L1 syndrome
- L1CAM syndrome
- L-2-hydroxyglutaric acidemia
- L-2-hydroxyglutaric aciduria
- La Crosse encephalitis
- Laband syndrome
- LABD
- Labile diabetes
- Labrador lung
- Labyrinthine fistula
- LACH
- Lachiewicz Sibley syndrome
- Lacrimoauriculodento-digital syndrome
- Lacrimo-auriculo-dento-digital syndrome
- Lactate dehydrogenase A deficiency
- Lactate dehydrogenase B deficiency
- Lactate dehydrogenase deficiency
- Lactate dehydrogenase deficiency type A
- Lactate dehydrogenase deficiency type B
- Lactation and squamous metaplasia of lactiferous ducts
- Lacteal cyst
- Lactic acidemia with pyruvate dehydrogenase phosphatase deficiency
- Lactic acidosis congenital infantile
- Lactiferous fistula
- Lactobezoar
- Lactocele
- Lactoferrin-deficient neutrophils
- Lactotroph adenoma
- LAD
- LAD
- LAD 1
- LAD2
- LADD syndrome
- Ladda Zonana Ramer syndrome
- LAD-I
- Lafora body disorder
- Lafora disease
- Lagophthalmia with bilateral cleft lip and palate
- Laing distal myopathy
- Laing early-onset distal myopathy
- LAL deficiency
- LAM
- LAM M2
- LAMA2-related muscular dystrophy
- LAMB syndrome
- Lambdoid synostosis
- Lambert Eaton myasthenic syndrome
- Lambert Eaton syndrome
- Lambert syndrome
- Lambotte syndrome
- Lamellar exfoliation of newborn
- Lamellar ichthyosis
- Lamellar ichthyosis, autosomal dominant
- Lamellar ichthyosis, type 1
- Lamellar ichthyosis, type 2
- Lamellar ichthyosis, type 3
- Laminin alpha-2 deficiency
- LAMM syndrome
- Landau-Kleffner syndrome
- Landouzy-Dejerine muscular dystrophy
- Landry-Guillain-Barre-Strohl syndrome
- Landry's ascending paralysis
- Landy-Donnai syndrome
- Langer Giedion Syndrome
- Langer mesomelic dysplasia
- Langer Nishino Yamaguchi syndrome
- Langerhans cell histiocytosis
- Langerhans cell sarcoma
- Langer-Saldino achondrogenesis
- Laparoschisis
- LAPS syndrome
- Large cell immunoblastic lymphoma
- Large congenital melanocytic nevus
- Large granular lymphocyte leukemia
- Large gyri of cerebrum
- Large pulp chambers in the molars
- Large vestibular aqueduct syndrome
- Large-intestinal infection with Balantidium coli
- L-arginine:glycine amidinotransferase deficiency
- Laron dwarfism
- Laron syndrome
- Laron syndrome due to postreceptor defect
- Laron type pituitary dwarfism I
- Larsen syndrome
- Larsen-like multiple joint dislocation syndrome
- Larsen-like syndrome
- Larsen-like syndrome, lethal type
- Laryngeal abductor paralysis
- Laryngeal and pharyngeal hypoplasia with omphalocele
- Laryngeal cancer
- Laryngeal carcinoma
- Laryngeal cleft
- Laryngeal dyskinesia
- Laryngeal dystonia
- Laryngeal papilloma, recurrent
- Laryngeal papillomatosis
- Laryngeal web, congenital heart disease and low stature
- Laryngocele
- Laryngomalacia
- Laryngomalacia congenital
- Laryngoonychocutaneous syndrome
- Laryngo-onycho-cutaneous syndrome
- Laryngotracheal cleft
- Laryngotracheal stenosis, arthropathy, prognathism, and short stature
- Laryngotracheoesophageal cleft
- Laryngo-tracheo-esophageal cleft
- Laryngo-tracheo-esophageal diastema
- Larynx atresia
- Larynx, congenital partial atresia of
- LATAIE disease
- Late hereditary endothelial dystrophy- not a rare disease.
- Late onset Alzheimer disease
- Late onset familial Alzheimer disease
- Late onset scleroatonic familial myopathy (subtype)
- Late-onset biotin-responsive multiple carboxylase deficiency
- Late-onset distal myopathy, Markesbery-Griggs type
- Late-Onset Familial Alzheimer Disease
- Late-onset group B strep disease in newborns
- Late-onset junctional epidermolysis bullosa
- Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
- Late-onset multiple carboxylase deficiency
- Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration
- Late-onset retinal degeneration
- Lateral facial cleft, cleft lip and palate, anophthalmia, microtia, clavicular agenesis and asternia
- Lateral femoral cutaneous nerve entrapment
- Lateral medullary syndrome
- Lateral meningocele syndrome
- Lateral semicircular canal malformation, familial, with external and middle ear abnormalities
- Laterality defects dominant
- Laterality, X-linked
- Lateralization defect
- Lathosterolosis
- Lathyrism
- Lattice corneal dystrophy type 1
- Lattice corneal dystrophy type 3A
- Lattice corneal dystrophy type II Finnish
- Lattice corneal dystrophy type III A
- Lattice corneal dystrophy type3
- Laugier and Hunziker pigmentation
- Laugier-Hunziker syndrome
- Launois-Bensaude syndrome
- Laurence-Moon syndrome
- Laurin Sandrow syndrome
- Laurin-Sandrow syndrome
- Lawrence syndrome
- Lawrence-Seip syndrome
- Laxova Brown Hogan syndrome
- Laxova-Opitz syndrome
- LBSL
- LC
- LCA
- LCA1
- LCA10
- LCA11
- LCA12
- LCA13
- LCA14
- LCA15
- LCA16
- LCA2
- LCA3
- LCA4
- LCA5
- LCA6
- LCA7
- LCA8
- LCA9
- LCAD deficiency
- LCATA deficiency
- LCC
- LCCS
- LCCS11
- LCCS2
- LCCS3
- LCD1
- LCH
- LCHAD deficiency
- L-CMD
- LCPD
- L-CPT 1 deficiency
- L-CPT1 deficiency
- L-CPTI deficiency
- LCS
- LCS1
- LDH deficiency B
- LDHBD
- LDHCP
- LDS3
- LDYT
- Le Marec Bracq Picaud syndrome
- Le Merrer syndrome
- Leaky Red cell syndrome
- Lean spastic dwarfism
- Learman syndrome
- Leber congenital amaurosis
- Leber congenital amaurosis 1
- Leber congenital amaurosis 10
- Leber congenital amaurosis 11
- Leber congenital amaurosis 12
- Leber congenital amaurosis 13
- Leber congenital amaurosis 14
- Leber congenital amaurosis 15
- Leber congenital amaurosis 16
- Leber congenital amaurosis 2
- Leber congenital amaurosis 3
- Leber congenital amaurosis 4
- Leber congenital amaurosis 5
- Leber congenital amaurosis 6
- Leber congenital amaurosis 7
- Leber congenital amaurosis 8
- Leber congenital amaurosis 9
- Leber congenital amaurosis type 1
- Leber congenital amaurosis type 10
- Leber congenital amaurosis type 11
- Leber congenital amaurosis type 12
- Leber congenital amaurosis type 2
- Leber congenital amaurosis type 3
- Leber congenital amaurosis type 4
- Leber congenital amaurosis type 5
- Leber congenital amaurosis type 6
- Leber congenital amaurosis type 9
- Leber hereditary optic neuropathy
- Leber hereditary optic neuropathy with dystonia
- Leber miliary aneurysm
- Leber optic atrophy
- Leber optic atrophy and dystonia
- Leber’s disease
- Leber's amaurosis
- Leber's congenital tapetoretinal degeneration
- Leber's congenital tapetoretinal dysplasia
- Leber's hereditary optic neuropathy with dystonia
- Ledderhose disease
- Lederhose disease
- Left renal vein entrapment syndrome
- Left ventricular hypertrabeculation
- Left ventricular noncompaction
- Left ventricular noncompaction 5
- Left ventricular transient apical ballooning
- Left-sided gallbladder
- Leg absence deformity cataract
- Legg-Calve-Perthes disease
- Legg-Calve-Perthes syndrome
- Legionellosis
- Legionnaires disease
- Legionnaires’ disease
- Legius syndrome
- Lehman syndrome
- Leichtman Wood Rohn syndrome
- Leigh disease
- Leigh disease, maternally inherited
- Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency
- Leigh syndrome
- Leigh syndrome due to pyruvate carboxylase deficiency
- Leigh syndrome, French Canadian type
- Leigh syndrome, Saguenay Lac saint Jean type
- Leigh's disease
- Leigh's necrotizing encephalopathy
- Leiner disease
- Leiomyoma of vulva and esophagus
- Leiomyomatosis familial
- Leiomyomatosis of esophagus, cataract and hematuria
- Leiomyomatosis peritonealis disseminate
- Leiomyomatosis, esophageal and vulval, with nephropathy
- Leiomyomatosis, esophagogastric and vulvar
- Leiomyosarcoma
- Leishmaniasis
- Lelis syndrome
- Lemierre postanginal sepsis
- Lemierre syndrome
- Lemierre’s syndrome
- Lemming fever
- LEMS
- Lennox-Gastaut syndrome
- Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, Deafnes
- Lentiginosis, perioral
- Lentigo maligna melanoma
- Lenz dysplasia
- Lenz Majewski hyperostotic dwarfism
- Lenz microphthalmia syndrome
- Lenz-Majewski hyperostotic dysplasia
- Lenz-Majewski syndrome
- LEOPARD syndrome
- LEPD
- Leprechaunism
- Leprosy
- Leptin deficiency or dysfunction
- Leptomeningeal angiomatosis
- Leptospirosis
- Leri pleonosteosis
- Leri type pleonosteosis
- Leri Weill dyschondrosteosis
- Leri's pleonosteosis
- Léri-Weill dyschondrosteosis
- Leroy Disease
- Lesch Nyhan disease
- Lesch Nyhan syndrome
- Lesch-Nyhan syndrome
- Lethal acrodysgenital syndrome
- Lethal ataxia with deafness and optic atrophy
- Lethal ataxia-deafness-optic atrophy
- Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system
- Lethal autosomal recessive syndrome of multiple congenital contractures
- Lethal chondrodysplasia Moerman type
- Lethal chondrodysplasia Seller type
- Lethal congenital contracture arthrogryposis-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
- Lethal congenital contracture syndrome 4
- Lethal congenital contracture syndrome type 3
- Lethal congenital glycogen storage disease of the heart- not a rare disease.
- Lethal congenital neutropenia with eosinophilia
- Lethal Kniest-like dysplasia
- Lethal metaphyseal dysplasia
- Lethal midline granuloma
- Lethal multiple pterygium syndrome
- Lethal neonatal short limb dwarfism
- Lethal omphalocele-cleft palate syndrome
- Lethal osteogenesis imperfecta
- Lethal osteosclerotic bone dysplasia
- Lethal short limb skeletal dysplasia Al Gazali type
- Lethal short-limbed platyspondylic dwarfism Torrance type
- Leucine-sensitive hypoglycemia of infancy
- Leucocyte adhesion defect
- Leukemia subleukemic
- Leukemia, B cell prolymphocytic
- Leukemia, B-cell, chronic
- Leukemia, chronic myeloid
- Leukemia, juvenile myelomonocytic
- Leukemia, lymphocytic, chronic
- Leukemia, myelomonocytic, chronic
- Leukemia, plasma cell
- Leukemia, T-cell, chronic
- Leukemic reticuloendotheliosis
- Leukocyte adhesion deficiency type 1
- Leukocyte adhesion deficiency type 2
- Leukocyte adhesion deficiency type I
- Leukocytoclastic angiitis
- Leukoderma acquisitum centrifugum of Sutton
- Leukodystrophy
- Leukodystrophy metachromatic
- Leukodystrophy, demyelinating, adult-onset, autosomal dominant
- Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia
- Leukodystrophy, hypomyelinating 3
- Leukodystrophy, hypomyelinating, 5
- Leukodystrophy, hypomyelinating, 6
- Leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum
- Leukodystrophy, pseudometachromatic
- Leukoencephalopathy - dystonia - motor neuropathy
- Leukoencephalopathy palmoplantar keratoderma
- Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
- Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
- Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome
- Leukoencephalopathy with dystonia and motor neuropathy
- Leukoencephalopathy with swelling and 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
- Leukoencephalopathy, diffuse hereditary, with spheroids
- Leukoencephalopathy, progressive multifocal
- Leukoencephalopathy-dystonia-motor neuropathy syndrome
- Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- Leukokeratosis, hereditary mucosal
- Leukonychia totalis
- Leukopenia benign familial
- Leukoplakia
- Levator ani spasm syndrome
- Levator ani syndrome
- Levator syndrome
- Levic Stefanovic Nikolic syndrome
- Levic-Stefanovic-Nikolic syndrome
- Levin syndrome 1
- Levin syndrome 2
- Levotransposition of the great arteries
- Levy Hollister syndrome
- Levy Yeboa syndrome
- Levy-Yeboa syndrome
- Lewandowsky-Lutz syndrome
- Lewis-Sumner syndrome
- Lewy body dementia- not a rare disease.
- Lewy body disease- not a rare disease.
- Leyden-Moebius muscular dystrophy
- Leydig cell agenesis
- Leydig cell hypoplasia
- LFA 1 immunodeficiency
- LFS1
- LGL leukemia
- LGMD
- LGMD1
- LGMD1A
- LGMD1B
- LGMD1C
- LGMD1D
- LGMD1E
- LGMD1F
- LGMD1G
- LGMD1H
- LGMD2
- LGMD2A
- LGMD2B
- LGMD2C
- LGMD2D
- LGMD2E
- LGMD2F
- LGMD2G
- LGMD2H
- LGMD2I
- LGMD2J
- LGMD2K
- LGMD2L
- LGMD2M
- LGMD2N
- LGMD2O
- LGMD2P
- LGMD2Q
- LGMD2S
- LGMD2T
- LGMD3
- LGS
- LGV
- LH
- LH resistance due to LH receptor deactivation
- Lhermitte-Duclos disease
- LHON
- LHON and dystonia
- LHRH deficiency and ataxia
- LHS
- LI
- Li Fraumeni syndrome
- LI1
- LI2
- Lichen amyloidosis familial
- Lichen follicularis
- Lichen myxedematosus
- Lichen myxoedematosus
- Lichen planopilaris
- Lichen planopilaris classic type
- 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
- Lichen sclerosis
- Lichen sclerosis et atrophicus
- Lichen sclerosus
- Lichen sclerosus et atrophicus
- Lichenoid melanodermatitis
- Lichtenstein syndrome
- Liddle syndrome
- Liddle's syndrome
- Liebenberg syndrome
- Li-Fraumeni syndrome
- Light chain amyloidosis
- Light chain deposition disease
- Light-chain deposition disease
- Ligneous conjunctivitis
- Limb body wall complex
- Limb deficiencies distal with micrognathia
- Limb deficiency-heart malformation syndrome
- Limb girdle muscular dystrophy
- Limb scalp and skull defects
- Limb uterus syndrome
- Limb, scalp and skull defects
- Limb-body wall complex
- Limb-girdle muscular dystrophy
- Limb-girdle muscular dystrophy - intellectual disability
- Limb-girdle muscular dystrophy due to caveolin-3 deficiency
- Limb-girdle muscular dystrophy due to FKRP deficiency
- Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
- Limb-girdle muscular dystrophy type 1A
- Limb-girdle muscular dystrophy type 1B
- Limb-girdle muscular dystrophy type 1C
- Limb-girdle muscular dystrophy type 1D
- Limb-girdle muscular dystrophy type 1E
- Limb-girdle muscular dystrophy type 1F
- Limb-girdle muscular dystrophy type 1G
- Limb-girdle muscular dystrophy type 1H
- Limb-girdle muscular dystrophy type 2
- Limb-girdle muscular dystrophy type 2A
- Limb-girdle muscular dystrophy type 2B
- Limb-girdle muscular dystrophy type 2E
- Limb-girdle muscular dystrophy type 2F
- 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 2M
- 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 with gamma-sarcoglycan deficiency
- Limb-girdle muscular dystrophy with Paget disease of bone
- Limb-girdle muscular dystrophy, type 1G
- Limb-girdle muscular dystrophy, type 2C
- Limb-girdle muscular dystrophy, type 2D
- Limb-girdle muscular dystrophy, type 2G
- Limb-girdle muscular dystrophy-intellectual disability syndrome
- Limbic encephalitis
- Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies
- Limbic encephalitis with LGI1 antibodies
- Limb-mammary syndrome
- Limit dextrinosis
- Limited cutaneous systemic scleroderma
- Limited cutaneous systemic sclerosis
- Limited systemic sclerosis
- Linear and whorled hypermelanosis
- Linear and whorled nevoid hypermelanosis
- Linear hamartoma syndrome
- Linear IgA bullous dermatosis
- Linear IgA dermatosis
- Linear IgA disease
- Linear immunoglobulin A (IgA) dermatosis
- Linear lichen planus
- Linear LP
- Linear nevus sebaceous syndrome
- Linear porokeratosis
- Linear scleroderma
- Linear skin defects with multiple congenital anomalies 1
- Linear verrucose epidermal nevus
- Lin-Gettig syndrome
- Lingua villosa- not a rare disease.
- Linguofacial dyskinesia- not a rare disease.
- Lip and oral cavity cancer
- Lip pit syndrome
- Lip pseudocleft-hemangiomatous branchial cyst syndrome
- LIPA deficiency
- Lipase D deficiency
- Lipase deficiency combined
- LIPC Deficiency
- LIPD deficiency
- Lipedema- not a rare disease.
- Lipedematous Scalp
- LIPE-related familial partial lipodystrophy
- LIPE-related FPLD
- Lipid transport defect of intestine
- Lipidosis with triglycerid storage disease
- Lipid-storage myopathy secondary to short-chain acyl-CoA dehydrogenase deficiency
- Lipoate biosynthesis defect
- Lipoatrophic diabetes
- Lipoatrophic diabetes
- Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules
- Lipoblastoma
- Lipodermatosclerosis
- Lipodystophy partial progressive
- Lipodystrophy cephalothoracic type
- Lipodystrophy due to peptidic growth factors deficiency
- Lipodystrophy partial acquired
- Lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy
- Lipodystrophy, congenital generalized, type 4
- LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PPARG MUTATIONS
- Lipodystrophy, familial partial, Dunnigan type
- Lipodystrophy, familial partial, type 2
- Lipodystrophy, familial partial, type 4
- Lipodystrophy, familial partial, type 5
- Lipodystrophy, familial partial, type 6
- Lipodystrophy, familial, of limbs and lower trunk
- Lipodystrophy, reverse partial
- Lipodystrophy, type A, associated with mandibuloacral dysplasia
- Lipodystrophy, type B, associated with mandibuloacral dysplasia
- Lipofuscin storage disease
- Lipogranulomatosis
- Lipoic acid biosynthesis defect
- Lipoic acid biosynthesis defects
- Lipoic acid synthetase deficiency
- Lipoid CAH
- Lipoid congenital adrenal hyperplasia
- Lipoid granulomatosis
- Lipoid proteinosis of Urbach and Wiethe
- Lipomatosis of pancreas, congenital
- Lipomatous medulloblastoma (formerly)
- Lipomucopolysaccharidosis
- Lipomyelomeningocele
- Lipoprotein lipase deficiency
- Lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency
- Lipoprotein lipase deficiency, familial
- Lipoproteinosis
- Liposarcoma
- Liposclerotic mesenteritis
- Liposomal Acid Lipase Deficiency, Wolman Type
- LIS1
- LIS2
- Lison syndrome
- Lissencephaly
- Lissencephaly 1
- Lissencephaly 2
- Lissencephaly and agenesis of corpus callosum
- Lissencephaly classic
- Lissencephaly sequence isolated
- Lissencephaly syndrome Norman-Roberts type
- Lissencephaly type 2 with muscular and ocular involvement - Another name for Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
- Lissencephaly X-linked
- Lissencephaly, X-linked 2
- LISSENCEPHALY, X-LINKED, WITH AMBIGUOUS GENITALIA
- Listeria infection
- Listeria monocytogenes infection
- Listeriosis
- LISX
- Littoral cell angioma
- Littoral cell angioma of the spleen
- Livedo racemosa and cerebrovascular accidents
- Livedo racemosa-cerebrovascular accident syndrome
- Livedo reticularis and cerebrovascular accidents
- Livedo reticularis with summer ulcerations
- Livedo reticularis with winter ulcerations
- Livedo reticularis-cerebrovascular accident syndrome
- Livedo vasculitis
- Livedoid vasculitis
- Livedoid vasculopathy
- Liver glycogen storage disease 0
- Liver glycogen synthase deficiency
- Liver GSD 0
- LKS
- LLP
- L-lysine NAD-oxido-reductase deficiency
- LMM
- LMNA-related congenital muscular dystrophy
- LMPS
- LMS
- LMS
- LNMS
- LNS
- Loa loa filariasis
- Lobar atrophy of the brain
- Lobo disease
- Lobstein disease
- Lobular capillary hemangioma- not a rare disease.
- LOCAH- not a rare disease.
- Local hypoplastic amelogenesis imperfecta
- Localized Castleman disease
- Localized cicatricial pemphigoid
- Localized deciduous skin
- Localized fibrosing scleroderma
- Localized hypertrophic neuropathy
- Localized junctional epidermolysis bullosa, non-Herlitz type
- Localized lichen myxedematosus
- Localized lipodystrophy
- Localized lipodystrophy
- Localized lipomatosis of the scalp with or without alopecia
- Localized pigmented villonodular synovitis
- Localized PSS
- Localized pustular psoriasis
- Localized scleroderma
- Locked in syndrome
- Locked-in syndrome
- Lockjaw
- LOCS
- Loeffler syndrome
- Loeys-Dietz aortic aneurysm syndrome
- Loeys-Dietz syndrome
- Loeys-Dietz syndrome 1
- Loeys-Dietz syndrome 2
- Loeys-Dietz syndrome 4
- Loeys-Dietz syndrome type 1
- Loeys-Dietz syndrome type 2
- Loeys-Dietz syndrome type 3
- Loeys-Dietz syndrome type 4
- Loeys-Dietz syndrome with osteoarthritis
- Loeys-Dietz syndrome, type 1c (formerly)
- Loeys-Dietz syndrome, type 3
- LOFAD
- Logic syndrome
- Logopenic primary progressive aphasia
- Logopenic progressive aphasia
- Logopenic variant PPA
- Loiasis
- Loin pain hematuria syndrome
- Loken-Senior syndrome
- Long bone deficiencies associated with cleft lip-palate
- Long columella with cleft lip/palate and eye, heart and intestinal anomalies
- Long QT syndrome- not a rare disease.
- Long QT syndrome 1
- Long QT syndrome 10
- Long QT syndrome 11
- Long QT syndrome 2
- Long QT syndrome 3
- Long QT syndrome 4
- Long QT syndrome 5
- Long QT syndrome 6
- Long QT syndrome 7
- Long QT syndrome 8
- Long QT syndrome 9
- Long QT syndrome with syndactyly
- Long-chain 3-hydroxy acyl CoA dehydrogenase deficiency
- Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
- Long-chain 3-OH acyl-CoA dehydrogenase deficiency
- Long-chain acyl-CoA dehydrogenase deficiency
- Long-thumb brachydactyly syndrome
- Loose anagen hair syndrome
- Loose anagen syndrome
- Lopes Gorlin syndrome
- LORD
- Loss of all scalp hair
- Lota
- Lou Gehrig disease
- Louis-Bar syndrome
- Low tolerance to sound
- Low-birth-weight dwarfism with skeletal dysplasia
- Lowe Kohn Cohen syndrome
- Lowe oculocerebrorenal syndrome
- Lowe syndrome
- Lower brachial plexus palsy
- Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures
- Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures
- Lower limb partial duplication renal agenesis
- Lower mesodermal defects
- Lower mesodermal defects sequence
- Low-grade diffuse astrocytoma
- Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis
- Lowry Maclean syndrome
- Lowry Wood syndrome
- LP pemphigoides
- LP pigmentosa
- LP pigmentosus
- LPA
- LPD
- LPHS
- LPI
- LPL and HL deficiency
- LPL and HTGL deficiency
- LPL deficiency
- LPP
- LPP
- LPS
- LQT1
- LQT10
- LQT11
- LQT2
- LQT3
- LQT4
- LQT5
- LQT6
- LQT7
- LQT8
- LQT9
- LRBA deficiency
- LRBA deficiency with Autoantibodies, regulatory T cell defects, Autoimmune Infiltration, and Enteropathy
- LRCC
- LRS
- LS
- LSFC
- LTBL
- LTEC
- L-tryptophan induced EMS
- Lubag
- Lubani Al Saleh Teebi syndrome
- Lubinsky syndrome
- Lubs X-linked mental retardation syndrome (formerly)
- Lucey-Driscoll syndrome
- Lujan syndrome
- Lundberg syndrome
- Lung adenocarcinoma
- Lung agenesis
- Lung agenesis heart defect thumb anomalies
- Lung nocardiosis
- Lung Small Cell Carcinoma
- Lupus- not a rare disease.
- Lupus anticoagulant, familial
- Lupus erythematosus- not a rare disease.
- Lupus erythematosus tumidus
- Lupus erythematosus, cutaneous
- Lupus nephritis
- Luteinizing hormone releasing hormone, deficiency of with ataxia
- Luteinizing hormone-releasing hormone deficiency with ataxia
- Lutz-Lewandowsky epidermodysplasia verruciformis
- Lutz-Splendore-Almeida disease
- LVM
- LVNC
- LWD
- LWNH
- LWS
- L-Xylulose reductase deficiency
- L-Xylulosuria
- LYH
- Lyme borreliosis- not a rare disease.
- Lyme disease- not a rare disease.
- Lymph Node Neoplasm
- Lymphangiectasia
- Lymphangiectasia pulmonary congenital
- Lymphangiectasies and lymphedema Hennekam type
- Lymphangiectasis
- Lymphangioleiomyomatosis
- Lymphangiomas
- Lymphangiomatosis
- Lymphangiomatosis pulmonary
- Lymphangio-myomatosis
- Lymphangiosarcoma following mastectomy
- Lymphatic filariasis
- Lymphatic malformations
- Lymphedema and cerebral arteriovenous anomaly
- Lymphedema cholestasis syndrome
- Lymphedema hereditary type 2
- Lymphedema hypoparathyroidism syndrome
- Lymphedema praecox
- Lymphedema with distichiasis
- Lymphedema with yellow nails
- Lymphedema, microcephaly and chorioretinopathy syndrome
- Lymphedema, atrial septal defect, and characteristic facial changes
- Lymphedema, hereditary, II
- Lymphedema, late-onset
- Lymphedema, primary, with myelodysplasia
- Lymphedema-distichiasis syndrome
- Lymphoblastic lymphoma
- Lymphoblastoid variant of NK-cell lymphoma
- Lymphocyte function-associated antigen 1 immunodeficiency
- Lymphocytic colitis- not a rare disease.
- Lymphocytic hypophysitis
- Lymphocytic infiltrate of Jessner
- Lymphocytic mastitis
- Lymphocytic mastopathy
- Lymphocytic vasculitis
- Lymphogranuloma venereum
- Lymphogranulomatosis X
- Lymphoma of the orbit
- Lymphoma AIDS related
- Lymphoma, B-Cell
- Lymphoma, follicular
- Lymphoma, Hodgkin's
- Lymphoma, large-cell, immunoblastic
- Lymphoma, Lymphoblastic
- Lymphoma, mantle cell
- Lymphomatoid granulomatosis
- Lymphomatoid papulosis
- Lymphomatous thyroiditis
- Lymphoplasmacytic lymphoma
- Lymphoplasmocytic sclerosing pancreatitis
- Lymphoproliferative disease, X-linked
- Lymphoproliferative syndrome X-linked 1
- Lymphoproliferative syndrome, X-linked, 1
- Lymphoproliferative syndrome, X-linked, 2
- Lymphosarcoma
- Lynch Lee Murday syndrome
- Lynch syndrome- not a rare disease.
- Lynch syndrome 1- not a rare disease.
- Lynch syndrome 2- not a rare disease.
- Lyngstadaas syndrome
- LyP
- Lysine alpha-ketoglutarate reductase deficiency
- Lysine intolerance
- Lysinuric protein intolerance
- Lysosomal acid lipase deficiency
- Lysosomal alpha-D-mannosidase deficiency
- Lysosomal beta-mannosidase deficiency
- Lysosomal cystine transport protein, defect of
- Lysosomal Free Sialic Acid Storage Disorders
- Lysosomal glycogen storage disease without acid maltase deficiency (formerly)
- Lysosomal protective protein deficiency of
- Lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues
- Lyssa
- Lysyl hydroxylase-deficient EDS
NIH genetic and rare disease info[edit source]
List of rare diseases-L is a rare disease.
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Contributors: Prab R. Tumpati, MD