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Disease	Synonyms	Description
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 hereditary optic neuropathy	Leber's hereditary optic neuropathy; Leber's optic.. [+] Leber's hereditary optic neuropathy; Leber's optic atrophy; Leber's optic atrophy (disorder); [-]	n_a
Legg-Calve-Perthes disease	Calve - Perthes' disease; Coxa plana; Juvenile ost.. [+] Calve - Perthes' disease; Coxa plana; 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; 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); [-]	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. [-]
Leigh disease	Infantile necrotizing encephalomyelopathy; juvenil.. [+] Infantile necrotizing encephalomyelopathy; juvenile subacute necrotizing encephalomyelopathy; Leigh syndrome; subacute necrotizing encephalomyelopathy; [-]	A mitochondrial metabolism disease characterized b..[+] A mitochondrial metabolism 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. [-]
Lemierre's syndrome	acute sore throat; human necrobacillosis; Lemierre.. [+] acute sore throat; human necrobacillosis; Lemierre syndrome; postanginal sepsis; [-]	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;	n_a
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. It has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain. [-]
Lesch-Nyhan syndrome	Complete hypoxanthine-guanine phosphoribosyltransf.. [+] Complete hypoxanthine-guanine phosphoribosyltransferase deficiency; deficiency of IMP pyrophosphorylase; HG-PRT deficiency; hypoxanthine guanine phosphoribosyltransferase deficiency; Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder); Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [Ambiguous]; Hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome]); Lesch - Nyhan syndrome; Lesch-Nyhan syndrome (disorder); X-linked hyperuricemia (disorder) [Ambiguous]; [-]	n_a
Lewy body dementia	Dementia with Lewy bodies; Diffuse Lewy body disea.. [+] Dementia with Lewy bodies; Diffuse Lewy body disease (disorder); Lewy body disease; Senile dementia of the Lewy body type (disorder); Diffuse Lewy body disease; Senile dementia of the Lewy body type; [-]	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 tumor	Leydig cell neoplasm;	n_a
Li-Fraumeni syndrome	Li-Fraumeni Familiar cancer Susceptibility syndrom.. [+] Li-Fraumeni Familiar cancer Susceptibility syndrome; sarcoma, breast, leukaemia and adrenal gland syndrome; SBLA syndrome; [-]	An autosomal dominant disease characterized by inc..[+] An autosomal dominant disease characterized by increases risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. [-]
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. [-]
Liddle syndrome	Liddle's syndrome; Pseudoaldosteronism;	n_a
Lisch epithelial corneal dystrophy	band-shaped and whorled microcystic ; LECD;	n_a
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	Loeffler's pneumonia ; Loffler's syndrome;	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		n_a
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. [-]
Lown-Ganong-Levine syndrome	atrial tachyarrhythmia with short PR interval; syn.. [+] atrial tachyarrhythmia with short PR interval; syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias; [-]	A syndrome that involves pre-excitation of the ven..[+] A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles. [-]
Ludwig's angina	cellulitis of floor of mouth; Ludwig angina;	n_a
Lutembacher's syndrome	Lutembacher syndrome; Lutembacher's anomaly;	n_a
Lyme disease	Bannwarth syndrome (disorder); Bannworth's syndrom.. [+] Bannwarth syndrome (disorder); Bannworth's syndrome; Lyme borreliosis; lyme neuroborreliosis; neuroborreliosis; Neurological Lyme disease; [-]	A primary bacterial infectious disease that result..[+] A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system. [-]
Lynch syndrome	COCA 1; Hereditary Defective Mismatch Repair syndr.. [+] COCA 1; Hereditary Defective Mismatch Repair syndrome; hereditary non-polyposis colon cancer type 1; hereditary nonpolyposis colorectal cancer; hereditary nonpolyposis colorectal neoplasm; HNPCC - hereditary nonpolyposis colon cancer; Hereditary non-polyposis colon cancer; Hereditary non-polyposis colon cancer syndrome; Hereditary non-polyposis colorectal cancer; Hereditary non-polyposis colorectal cancer syndrome; Hereditary nonpolyposis colon cancer; Hereditary nonpolyposis colon cancer syndrome; Hereditary nonpolyposis colorectal cancer syndrome; [-]	A syndrome that is characterized by an increased r..[+] A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers. [-]
MASA syndrome	CRASH syndrome; Gareis-Mason syndrome; hereditary .. [+] CRASH syndrome; Gareis-Mason syndrome; hereditary spastic paraplegia 1; L1 syndrome; SPG1; X-linked complicated hereditary spastic paraplegia type 1; X-linked corpus callosum agenesis; X-linked spastic paraplegia 1; [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. [-]
MEDNIK syndrome	erythrokeratodermia variabilis 3; erythrokeratoder.. [+] erythrokeratodermia variabilis 3; erythrokeratodermia variabilis, Kamouraska type; mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia; [-]	A syndrome characterized by mental retardation, en..[+] A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22. [-]
MEHMO syndrome	mental retardation, epileptic seizures, hypogonadi.. [+] mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; MRXS20; MRXS25; syndromic X-linked mental retardation 20; syndromic X-linked mental retardation 25; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome; [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in variation in the chromosome region Xp22.13-p21.1. [-]
MELAS syndrome	MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACI.. [+] MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; [-]	A mitochondrial encephalomyopathy that is characte..[+] A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins. [-]
MERRF syndrome	Fukuhara syndrome (disorder); Myoclonic epilepsy -.. [+] Fukuhara syndrome (disorder); Myoclonic epilepsy - ragged red fibers (disorder); Myoclonus epilepsy AND ragged red fibers (disorder); Myoclonus with epilepsy and with Ragged Red Fibers (MERRF syndrome); [-]	n_a
MHC class I deficiency	bare lymphocyte syndrome type I; BLS, TYPE I; BLSI.. [+] bare lymphocyte syndrome type I; BLS, TYPE I; BLSI; HLA CLASS I DEFICIENCY; [-]	A severe combined immunodeficiency that is charact..[+] A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy. [-]

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