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Disease	Synonyms	Description	Articles	Phenotypes
lidocaine allergy	lignocaine allergy; Lidoderm allergy; xylocaine al.. [+] Lidoderm allergy; lignocaine allergy; xylocaine allergy [-]	A drug allergy that has_allergic_trigger lidocaine..[+] A drug allergy that has_allergic_trigger lidocaine. [-]
La Crosse encephalitis	California Encephalitis; Neuroinvasive California .. [+] California Encephalitis; Neuroinvasive California encephalitis virus infection; California virus encephalitis [-]	A viral infectious disease that results_in inflamm..[+] A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis. [-]
laryngotracheitis		An upper respiratory tract disease involving infla..[+] An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe. [-]
lymphoid interstitial pneumonia		An idiopathic interstitial pneumonia which involve..[+] An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses. [-]
lower respiratory tract disease		A respiratory system disease which involves the lo..[+] A respiratory system disease which involves the lower respiratory tract. [-]	18 articles	22 matches
lujo hemorrhagic fever		A viral infectious disease that results_in infecti..[+] A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding. [-]
Lambert-Eaton myasthenic syndrome	Lambert-Eaton syndrome; LEMS; Eaton-Lambert syndro.. [+] LEMS; Lambert-Eaton syndrome; Eaton-Lambert syndrome [-]	A neuromuscular junction disease that is character..[+] A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. [-]	1 articles
lacrimoauriculodentodigital syndrome 1	Lacrimo-auriculo-dento-digital syndrome 1; LEVY-HO.. [+] Lacrimo-auriculo-dento-digital syndrome 1; LEVY-HOLLISTER SYNDROME; lacrimoauriculodentodigital syndrome [-]	A syndrome that has_material_basis_in heterozygous..[+] A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes. [-]
lissencephaly		A congenital nervous system abnormality characteri..[+] A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. [-]	1 articles
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
Liddle syndrome	Liddle's syndrome; Pseudoaldosteronism	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
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
L-2-hydroxyglutaric aciduria	L-2-HYDROXYGLUTARIC ACIDEMIA	An 2-hydroxyglutaric aciduria that involves damage..[+] An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). [-]
limb ischemia		n_a	1 articles
large cell neuroendocrine carcinoma		A lung large cell carcinoma that derives_from neur..[+] A lung large cell carcinoma that derives_from neuroendocrine cells. [-]
large intestine adenocarcinoma		A large intestine cancer that has_material_basis_i..[+] A large intestine cancer that has_material_basis_in epithelial cells of glandular origin. [-]
large intestine adenoma		An intestinal benign neoplasm that has_material_ba..[+] An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine. [-]
lung combined type small cell adenocarcinoma		A lung combined type small cell carcinoma that has..[+] A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin. [-]
lung mucoepidermoid carcinoma		A lung carcinoma that has_material_basis_in a comb..[+] A lung carcinoma that has_material_basis_in a combination of squamous cells, mucus secreting cells and intermediate cells. [-]
lambda 5 deficiency		A B cell deficiency that has material basis in mut..[+] A B cell deficiency that has material basis in mutations in the IGLL1 gene. Lambda 5 mutations an cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage. [-]
lymphoma	lymphoid cancer	A hematologic cancer that affects lymphocytes that..[+] A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs. [-]	3 articles
lymphatic system cancer		An immune system cancer that is located_in the lym..[+] An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue. [-]	4 articles
lymphocytic colitis		A colitis characterized by an accumulation of lymp..[+] A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria). [-]
lymph node adenoid cystic carcinoma	lymph node adenoid cystic cancer	A lymph node carcinoma that is characterized by a ..[+] A lymph node carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. [-]
lung abscess		A lung disease characterized by microbial infectio..[+] A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid. [-]
lysinuric protein intolerance	LPI; hyperdibasic aminoaciduria; dibasic amino aci.. [+] LPI; hyperdibasic aminoaciduria; dibasic amino aciduria II [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. [-]
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. [-]
left ventricular noncompaction	left ventricular hypertrabeculation	An intrinsic cardiomyopathy characterized by disti..[+] An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium. [-]	1 articles
latex allergy		An allergic disease that is triggered by latex.
luminal breast carcinoma A	luminal breast cancer; Luminal A Breast Carcinoma; .. [+] Luminal A Breast Carcinoma; luminal breast cancer; breast tumor luminal [-]	A breast carcinoma that is characterized by high e..[+] A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. [-]
lethal congenital contracture syndrome		A syndrome characterized by congenital nonprogress..[+] A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. [-]
lethal congenital contracture syndrome 1	LCCS1; multiple contracture syndrome, Finnish type.. [+] LCCS1; multiple contracture syndrome, Finnish type [-]	A lethal congenital contracture syndrome that has_..[+] A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34. [-]
lethal congenital contracture syndrome 2	LCCS2; multiple contracture syndrome, Israeli-Bedo.. [+] LCCS2; multiple contracture syndrome, Israeli-Bedouin type [-]	A lethal congenital contracture syndrome that can ..[+] A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13. [-]
lethal congenital contracture syndrome 3	Israeli Bedouin type B multiple contracture syndro.. [+] Israeli Bedouin type B multiple contracture syndrome [-]	A lethal congenital contracture syndrome that has_..[+] A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. [-]
lethal congenital contracture syndrome 4		A lethal congenital contracture syndrome that has_..[+] A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23. [-]
lymphoproliferative syndrome	Combined immunodeficiency due to ITK deficiency	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection. [-]
lymphoproliferative syndrome 1	LPFS1	A lymphoproliferative syndrome characterized by au..[+] A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32. [-]
lymphoproliferative syndrome 2	LPFS2; CD27 deficiency	A lymphoproliferative syndrome characterized by au..[+] A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13. [-]
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
leukoencephalopathy with vanishing white matter	CACH; childhood ataxia with central nervous system.. [+] CACH; childhood ataxia with central nervous system hypomyelination; CLE; vanishing white matter leukodystrophy; Cree leukoencephalopathy; CACH/VWM; ovarioleukodystrophy [-]	A leukodystrophy characterized by variable neurolo..[+] A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood. [-]
late-onset retinal degeneration	LORD; autosomal dominant late-onset retinal degene.. [+] LORD; autosomal dominant late-onset retinal degeneration [-]	A retinal degeneration characterized by autosomal ..[+] A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has_material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23. [-]
late onset Parkinson's disease	late onset Parkinson disease	A Parkinson's disease characterized by onset of mo..[+] A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age. [-]	2 articles
lymphoplasmacytic lymphoma	lymphoplasmacytic lymphoma with IgM gammopathy; Wa.. [+] lymphoplasmacytic lymphoma with IgM gammopathy; Waldenstrom Macroglobulinemia; Waldenstroem's macroglobulinemia [-]	A B-cell lymphoma characterized by the accumulatio..[+] A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. [-]
legume allergy	Fabaceae allergy	A fruit allergy triggered by Fabaceae (legume) pla..[+] A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product. [-]
leukoencephalopathy with vanishing white matter 5	Cree leukoencephalopathy	A leukoencephalopathy with vanishing white matter ..[+] A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27. [-]
leukoencephalopathy with vanishing white matter 4		A leukoencephalopathy with vanishing white matter ..[+] A leukoencephalopathy with vanishing white matter that has_material_basis_in compound heterozygous mutation in the EIF2B4 gene on chromosome 2p23. [-]
leukoencephalopathy with vanishing white matter 3		A leukoencephalopathy with vanishing white matter ..[+] A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B3 gene on chromosome 1p34. [-]
leukoencephalopathy with vanishing white matter 2		A leukoencephalopathy with vanishing white matter ..[+] A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B2 gene on chromosome 14q24. [-]
leukoencephalopathy with vanishing white matter 1		A leukoencephalopathy with vanishing white matter ..[+] A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24. [-]
Luo-Schoch-Yamamoto syndrome	LUSYAM	A autosomal dominant intellectual developmental di..[+] A autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that has_material_basis_in heterozygous mutation in the RNF2 gene on chromosome 1q25. [-]

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