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Disease	Synonyms	Description	Articles
Leber congenital amaurosis 10	LCA10;	A Leber congenital amaurosis that is characterized..[+] A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32. [-]
Leber congenital amaurosis 11	LCA11;	A Leber congenital amaurosis that has_material_bas..[+] A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32. [-]
Leber congenital amaurosis 12	LCA12;	A Leber congenital amaurosis that has_material_bas..[+] A Leber congenital amaurosis that has_material_basis_in mutation in the RD3 gene on chromosome 1q32. [-]
Leber congenital amaurosis 13	LCA13;	A Leber congenital amaurosis thatis characterized ..[+] A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3. [-]
Leber congenital amaurosis 14	LCA14;	A Leber congenital amaurosis that has_material_bas..[+] A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31. [-]
Leber congenital amaurosis 15	LCA15;	A Leber congenital amaurosis that has_material_bas..[+] A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3. [-]
Leber congenital amaurosis 16	LCA16;	A Leber congenital amaurosis that has_material_bas..[+] A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37. [-]
Leber congenital amaurosis 17	LCA17;	A Leber congenital amaurosis that has_material_bas..[+] A Leber congenital amaurosis that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. [-]
Leber congenital amaurosis 19		A Leber congenital amaurosis that has_material_bas..[+] A Leber congenital amaurosis that has_material_basis_in mutation in the USP45 gene on chromosome 6q16. [-]
Leber congenital amaurosis 2	amaurosis congenita of Leber II; LCA2;	A Leber congenital amaurosis that is characterized..[+] A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1. [-]
Leber congenital amaurosis 3	LCA3;	A Leber congenital amaurosis that has_material_bas..[+] A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31. [-]
Leber congenital amaurosis 4	LCA4;	A Leber congenital amaurosis that is characterized..[+] A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13. [-]
Leber congenital amaurosis 5	LCA5;	A Leber congenital amaurosis that is characterized..[+] A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1. [-]
Leber congenital amaurosis 6	LCA6;	A Leber congenital amaurosis that is characterized..[+] A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11. [-]
Leber congenital amaurosis 7	LCA7;	A Leber congenital amaurosis that has_material_bas..[+] A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13. [-]
Leber congenital amaurosis 8	LCA8;	A Leber congenital amaurosis that is characterized..[+] A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32. [-]
Leber congenital amaurosis 9	LCA9;	A Leber congenital amaurosis that has_material_bas..[+] A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36. [-]
Leber congenital amaurosis with early-onset deafness	LCAEOD;	A sensory system disease characterized by early-on..[+] A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in the TUBB4B gene on chromosome 9q34.3. [-]
Leber hereditary optic neuropathy	Leber's hereditary optic neuropathy; Leber's optic.. [+] Leber's hereditary optic neuropathy; Leber's optic atrophy (disorder); Leber's optic atrophy; [-]	n_a
Leber hereditary optic neuropathy and dystonia	Leber optic atrophy and dystonia; Leber optic atro.. [+] Leber optic atrophy and dystonia; Leber optic atrophy with dystonia; Marsden syndrome; LDYT; familial dystonia with visual failure and striatal lucencies; [-]	A Leber plus disease characterized by Leber heredi..[+] A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I. [-]
Leber hereditary optic neuropathy with demyelinating disease of CNS		A Leber plus disease characterized by Leber heredi..[+] A Leber plus disease characterized by Leber hereditary optic neuropathy and demyelination in the central nervous system. [-]
Leber plus disease	LHON plus disease;	A syndrome characterized by Leber's hereditary opt..[+] A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities. [-]
Legg-Calve-Perthes disease	Juvenile osteochond-hip/pelvis; juvenile osteochon.. [+] Juvenile osteochond-hip/pelvis; juvenile osteochondrosis of hip and pelvis; Juvenile osteochondrosis of hip and/or pelvis (disorder); Legg-Calve-Perthes symptom; osteochondrosis of Legg-Calve-Perthes; Perthe's disease; Perthes disease; Coxa plana; Calve - Perthes' disease; Juvenile osteochondrosis of hip and/or pelvis; pseudocoxalgia; Pseudocoxalgia; [-]	An osteochondrosis that results_in death and fract..[+] An osteochondrosis that results_in death and fracture located_in hip joint. [-]
Legionnaires' disease	(Legionella) or (Legionnaire's disease); Infection.. [+] (Legionella) or (Legionnaire's disease); Infection by Legionella pneumophilia (disorder); Legionella pneumonia (disorder); Legionella; Legionella pneumonia; Legionnaire's disease; Infection by Legionella pneumophilia; [-]	A legionellosis that is characterized by severe fo..[+] A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough. [-]
Legius syndrome	LGSS; neurofibromatosis type 1-like syndrome; NF1-.. [+] LGSS; neurofibromatosis type 1-like syndrome; NF1-like syndrome; [-]	A RASopathy characterized by multiple cafe-au-lait..[+] A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14. [-]
Leigh disease	juvenile subacute necrotizing encephalomyelopathy;.. [+] juvenile subacute necrotizing encephalomyelopathy; Leigh syndrome; Infantile necrotizing encephalomyelopathy; subacute necrotizing encephalomyelopathy; [-]	A cytochrome-c oxidase deficiency disease characte..[+] A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. [-]	1 articles
Lemierre's syndrome	Lemierre syndrome; postanginal sepsis; human necro.. [+] Lemierre syndrome; postanginal sepsis; human necrobacillosis; acute sore throat; [-]	A commensal bacterial infectious disease that is c..[+] A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling. [-]
Lennox-Gastaut syndrome	Lennox syndrome;	A childhood electroclinical syndrome that is chara..[+] A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood. [-]	3 articles
Lenz-Majewski hyperostotic dwarfism	Lenz-Majewski syndrome;	A syndrome characterized by intellectual disabilit..[+] A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1. [-]
Leri-Weill dyschondrosteosis		An osteochondrodysplasia characterized by abnormal..[+] An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain. [-]	1 articles
Lesch-Nyhan syndrome	deficiency of IMP pyrophosphorylase; HG-PRT defici.. [+] deficiency of IMP pyrophosphorylase; HG-PRT deficiency; Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder); Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [Ambiguous]; Hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome]); Lesch-Nyhan syndrome (disorder); X-linked hyperuricemia (disorder) [Ambiguous]; Complete hypoxanthine-guanine phosphoribosyltransferase deficiency; hypoxanthine guanine phosphoribosyltransferase deficiency; Hypoxanthine-guanine-phosphoribosyltransferase deficiency; X-linked hyperuricemia; Hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch - Nyhan syndrome; [-]	A purine-pyrimidine metabolic disorder characteriz..[+] A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the hypoxanthine guanine phosphoribosyltransferase (HPRT) gene on chromosome Xq26. [-]
Lewy body dementia	Diffuse Lewy body disease (disorder); Senile demen.. [+] Diffuse Lewy body disease (disorder); Senile dementia of the Lewy body type (disorder); Diffuse Lewy body disease; Lewy body disease; Senile dementia of the Lewy body type; Dementia with Lewy bodies; [-]	A dementia that is characterized by the developmen..[+] A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities. [-]
Leydig cell hypoplasia	46,XY disorder of sex development due to LH resist.. [+] 46,XY disorder of sex development due to LH resistance or LHB deficiency; 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency; 46,XY DSD due to LH resistance or LHB deficiency; 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency; [-]	A pseudohermaphroditism that has_material_basis_in..[+] A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3. [-]
Leydig cell hypoplasia type I	46,XY disorder of sex development due to complete .. [+] 46,XY disorder of sex development due to complete LH receptor inactivation; 46,XY disorder of sex development due to complete LH resistance; 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation; 46,XY disorder of sex development due to complete luteinizing hormone resistance; 46,XY DSD due to complete LH receptor inactivation; 46,XY DSD due to complete LH resistance; 46,XY DSD due to complete luteinizing hormone receptor inactivation; 46,XY DSD due to complete luteinizing hormone resistance; Leydig cell hypoplasia due to complete LH receptor inactivation; Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation; Leydig cell hypoplasia due to complete luteinizing hormone resistance; [-]	A Leydig cell hypoplasia characterized by 46,XY ma..[+] A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in the LHCGR gene on chromosome 2p16.3. [-]
Leydig cell hypoplasia type II	46,XY disorder of sex developement due to partial .. [+] 46,XY disorder of sex developement due to partial LH receptor inactivation; 46,XY disorder of sex developement due to partial LH resistance; 46,XY disorder of sex developement due to partial luteinizing hormone resistance; 46,XY DSD due to partial LH receptor inactivation; 46,XY DSD due to partial LH resistance; 46,XY DSD due to partial luteinizing hormone resistance; 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; 46,XY disorder of sex development due to partial LH receptor inactivation; 46,XY disorder of sex development due to partial LH resistance; 46,XY disorder of sex development due to partial luteinizing hormone resistance; [-]	A Leydig cell hypoplasia characterized by variable..[+] A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in the LHCGR gene on chromosome 2p16.3. [-]
Leydig cell tumor	Leydig cell neoplasm;	A sex cord-gonadal stromal tumor that secretes tes..[+] A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle. [-]
Li-Fraumeni syndrome	sarcoma, breast, leukaemia and adrenal gland syndr.. [+] sarcoma, breast, leukaemia and adrenal gland syndrome; SBLA syndrome; Li-Fraumeni Familiar cancer Susceptibility syndrome; LFS; [-]	A syndrome characterized by autosomal dominant inh..[+] A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. [-]	1 articles
Li-Fraumeni syndrome 1	LFS1;	A Li-Fraumeni syndrome that has_material_basis_in ..[+] A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1. [-]
Li-Fraumeni syndrome 2	LFS2;	A Li-Fraumeni syndrome that has_material_basis_in ..[+] A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the CHEK2 gene on chromosome 22q12.1. [-]
Libman-Sacks endocarditis	Libmann–Sachs, Endocarditis in systemic lupus eryt.. [+] Libmann–Sachs, Endocarditis in systemic lupus erythematosus; [-]	An endocarditis that is characterized by Libman-Sa..[+] An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease. [-]
Liddle syndrome	Pseudoaldosteronism; Liddle's syndrome;	A renal tubular transport disease that is characte..[+] A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel. [-]	4 articles
Lisch epithelial corneal dystrophy	LECD; band-shaped and whorled microcystic ;	An epithelial and subepithelial dystrophy that is ..[+] An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns and that has_material_basis_in the MCOLN1 gene on Chr. 19. [-]
Listeria meningitis		A bacterial meningitis that has_material_basis_in ..[+] A bacterial meningitis that has_material_basis_in Listeria monocytogenes infection. [-]
Littre gland carcinoma		A male reproductive organ cancer that has_material..[+] A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Littre glands. [-]
Loeffler endocarditis	Eosinophilic Endomyocardial disease;	A restrictive cardiomyopathy that affects the endo..[+] A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils. [-]
Loeffler syndrome	Loffler's syndrome; Loeffler's pneumonia ;	An eosinophilic pneumonia described as a form of p..[+] An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection. [-]
Loeys-Dietz syndrome		A syndrome that is characterized by increased risk..[+] A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects. [-]	1 articles
Loeys-Dietz syndrome 1	AAT5; familial throacic aortic aneurysm 5; Furlong.. [+] AAT5; familial throacic aortic aneurysm 5; Furlong syndrome; LDS1; [-]	A Loeys-Dietz syndrome that has_material_basis_in ..[+] A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22. [-]
Loeys-Dietz syndrome 2	AAT3; familial throacic aortic aneurysm 3; LDS2; M.. [+] AAT3; familial throacic aortic aneurysm 3; LDS2; Marfan syndrome type II; [-]	A Loeys-Dietz syndrome that has_material_basis_in ..[+] A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24. [-]
Loeys-Dietz syndrome 3	aneurysms-osteoarthritis syndrome; LDS1C; LDS3; Lo.. [+] aneurysms-osteoarthritis syndrome; LDS1C; LDS3; Loeys-Dietz syndrome type 1C; Loeys-Dietz syndrome with osteoarthritis; [-]	A Loeys-Dietz syndrome that has_material_basis_in ..[+] A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q. [-]

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