List of rare diseases-L

NIH genetic and rare disease info

• NIH info on List of rare diseases-L

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

• NIH info on List of rare diseases-L

List of rare diseases-L is a rare disease.