Disease Name Symbol Acronym
L-2-Hydroxyglutaric Aciduria L2H001
L-Arginine:glycine Amidinotransferase Deficiency LRG010
L-Ferritin Deficiency LFR008
L-Threonine Dehydrogenase, Pseudogene LTH048
La Crosse Encephalitis LCR004
Labyrinthitis LBY004
Lacrimal Apparatus Disease LCR008
Lacrimal Duct Defect LCR013
Lacrimal Duct Obstruction LCR001
Lacrimal Gland Adenocarcinoma LCR009
Lacrimal Gland Adenoid Cystic Carcinoma LCR006
Lacrimal Gland Carcinoma LCR011
Lacrimal Gland Mucoepidermoid Carcinoma LCR002
Lacrimal System Cancer LCR012
Lacrimoauriculodentodigital Syndrome LCR014
Lactase Deficiency, Congenital LCT013
Lactate Dehydrogenase B Deficiency LCT017
Lactic Acidosis LCT001
Lactocele LCT003
Lactose Intolerance LCT002
Lactose Intolerance, Adult Type LCT011
Lagophthalmos LGP001
Lama2-Related Muscular Dystrophy LM2001
Lamb-Shaffer Syndrome LMB069
Lambdoid Synostosis LMB009
Lambert-Eaton Myasthenic Syndrome LMB002
Landau-Kleffner Syndrome LND001
Langer Mesomelic Dysplasia LNG040
Langerhans Cell Histiocytosis LNG108
Langerhans Cell Sarcoma LNG004
Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia LNG104
Large Cell Acanthoma LRG002
Large Cell Carcinoma LRG001
Large Cell Carcinoma with Rhabdoid Phenotype LRG005
Large Cell Medulloblastoma LRG003
Large Cell Neuroendocrine Carcinoma LRG014
Large Granular Lymphocyte Leukemia LRG008
Large Intestine Adenocarcinoma LRG016
Large Intestine Lipoma LRG007
Laron Syndrome LRN002
Larsen Syndrome LRS001
Larsen-Like Syndrome LRS002
Laryngeal Adductor Paralysis LRY021
Laryngeal Cleft LRY026
Laryngeal Disease LRY017
Laryngeal Small Cell Carcinoma LRY005
Laryngeal Tuberculosis LRY007
Laryngitis LRY019
Laryngomalacia LRY029
Laryngoonychocutaneous Syndrome LRY022
Laryngostenosis LRY002
Laryngotracheitis LRY004
Larynx Cancer LRY044
Larynx Verrucous Carcinoma LRY011
Lassa Fever LSS003
Late Congenital Syphilis LTC001
Late-Infantile/juvenile Krabbe Disease LTN017
Late-Onset Distal Myopathy, Markesbery-Griggs Type LTN022
Late-Onset Focal Dermal Elastosis LTN013
Late-Onset Isolated Acth Deficiency LTN011
Late-Onset Junctional Epidermolysis Bullosa LTN015
Late-Onset Nephronophthisis LTN020
Late-Onset Retinal Degeneration LTN004
Late-Onset Retinal Degenration LTN024
Latent Syphilis LTN001
Lateral Cystocele LTR006
Lateral Medullary Syndrome LTR003
Lateral Meningocele Syndrome LTR009
Lateral Myocardial Infarction LTR004
Lateral Sclerosis LTR001
Lateral Sinus Thrombosis LTR002
Laterality Defects, Autosomal Dominant LTR015
Latex Allergy LTX001
Lathosterolosis LTH002
Lattice Corneal Dystrophy LTT001
Lattice Corneal Dystrophy Type Ii LTT008
Laurence-Moon Syndrome LRN001
Laurin-Sandrow Syndrome LRN006
Lean Body Mass Quantitative Trait Locus 1 LNB002
Learning Disability LRN003
Leber Congenital Amaurosis LBR001
Leber Congenital Amaurosis 1 LBR004
Leber Congenital Amaurosis 10 LBR005
Leber Congenital Amaurosis 11 LBR006
Leber Congenital Amaurosis 12 LBR007
Leber Congenital Amaurosis 13 LBR008
Leber Congenital Amaurosis 14 LBR009
Leber Congenital Amaurosis 15 LBR010
Leber Congenital Amaurosis 16 LBR011
Leber Congenital Amaurosis 17 LBR029
Leber Congenital Amaurosis 2 LBR012
Leber Congenital Amaurosis 3 LBR013
Leber Congenital Amaurosis 4 LBR014
Leber Congenital Amaurosis 5 LBR015
Leber Congenital Amaurosis 6 LBR016
Leber Congenital Amaurosis 7 LBR017
Leber Congenital Amaurosis 8 LBR018
Leber Congenital Amaurosis 9 LBR019
Leber Hereditary Optic Neuropathy LBR002
Leber Optic Atrophy LBR030
Leber Optic Atrophy and Dystonia LBR031
Lecithin:cholesterol Acyltransferase Deficiency LCT022
Leech Infestation LCH001
Left Ventricular Noncompaction LFT003
Left Ventricular Noncompaction 1 LFT021
Left Ventricular Noncompaction 10 LFT018
Left Ventricular Noncompaction 2 LFT011
Left Ventricular Noncompaction 7 LFT020
Left Ventricular Noncompaction 8 LFT017
Legg-Calve-Perthes Disease LGG001
Legionellosis LGN002
Legionnaire Disease LGN006
Legionnaires' Disease LGN001
Legius Syndrome LGS001
Leigh Syndrome LGH007
Leigh Syndrome with Leukodystrophy LGH012
Leigh Syndrome with Nephrotic Syndrome LGH017
Leigh Syndrome, French Canadian Type LGH003
Leiner Disease LNR001
Leiomyoma LMY002
Leiomyoma Cutis LMY001
Leiomyoma, Uterine LMY014
Leiomyomatosis LMY003
Leiomyosarcoma LMY004
Leishmaniasis LSH001
Leishmaniasis, Tegumentary LSH003
Lemierre's Syndrome LMR001
Lennox-Gastaut Syndrome LNN001
Lens Disease LNS003
Lens Subluxation LNS001
Lentigines LNT004
Lentiginosis, Inherited Patterned LNT008
Lentigo Maligna Melanoma LNT002
Lenz-Majewski Hyperostotic Dwarfism LNZ003
Leopard Syndrome LPR002
Leopard Syndrome 1 LPR012
Leopard Syndrome 2 LPR011
Leopard Syndrome 3 LPR007
Lepromatous Leprosy LPR001
Leprosy 1 LPR023
Leprosy 2 LPR022
Leprosy 3 LPR021
Leprosy 4 LPR016
Leprosy 5 LPR017
Leprosy 6 LPR020
Leptin Deficiency or Dysfunction LPT014
Leptin Receptor Deficiency LPT006
Leptin, Serum Level of, Quantitative Trait Locus 1 LPT013
Leptospirosis LPT001
Leri-Weill Dyschondrosteosis LRW001
Lesch-Nyhan Syndrome LSC001
Lesion of Sciatic Nerve LSN001
Lethal Arthrogryposis with Anterior Horn Cell Disease LTH011
Lethal Congenital Contracture Syndrome LTH003
Lethal Congenital Contracture Syndrome 1 LTH007
Lethal Congenital Contracture Syndrome 10 LTH042
Lethal Congenital Contracture Syndrome 11 LTH039
Lethal Congenital Contracture Syndrome 2 LTH008
Lethal Congenital Contracture Syndrome 3 LTH047
Lethal Congenital Contracture Syndrome 4 LTH026
Lethal Congenital Contracture Syndrome 5 LTH027
Lethal Congenital Contracture Syndrome 6 LTH031
Lethal Congenital Contracture Syndrome 7 LTH032
Lethal Congenital Contracture Syndrome 8 LTH030
Lethal Congenital Contracture Syndrome 9 LTH029
Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome LTH040
Lethal Midline Granuloma LTH001
Leukemia LKM002
Leukemia, Acute Lymphoblastic LKM062
Leukemia, Acute Lymphoblastic 2 LKM055
Leukemia, Acute Lymphoblastic 3 LKM060
Leukemia, Acute Monocytic LKM070
Leukemia, Acute Myeloid LKM061
Leukemia, B-Cell, Chronic LKM004
Leukemia, Chronic Lymphocytic LKM071
Leukemia, Chronic Lymphocytic 1 LKM050
Leukemia, Chronic Lymphocytic 2 LKM056
Leukemia, Chronic Lymphocytic 3 LKM051
Leukemia, Chronic Lymphocytic 4 LKM053
Leukemia, Chronic Lymphocytic 5 LKM052
Leukemia, Chronic Myeloid LKM063
Leukocoria LKC002
Leukocyte Adhesion Deficiency, Type I LKC009
Leukocyte Adhesion Deficiency, Type Iii LKC005
Leukocyte Disease LKC003
Leukodystrophy LKD001
Leukodystrophy and Acquired Microcephaly with or Without Dystonia LKD024
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant LKD025
Leukodystrophy, Hypomyelinating, 10 LKD020
Leukodystrophy, Hypomyelinating, 11 LKD021
Leukodystrophy, Hypomyelinating, 12 LKD023
Leukodystrophy, Hypomyelinating, 13 LKD022
Leukodystrophy, Hypomyelinating, 2 LKD010
Leukodystrophy, Hypomyelinating, 3 LKD015
Leukodystrophy, Hypomyelinating, 4 LKD008
Leukodystrophy, Hypomyelinating, 5 LKD009
Leukodystrophy, Hypomyelinating, 6 LKD019
Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism LKD017
Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism LKD018
Leukodystrophy, Hypomyelinating, 9 LKD016
Leukodystrophy, Progressive, Early Childhood-Onset LKD026
Leukoencephalopathy with Ataxia LKN017
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation LKN026
Leukoencephalopathy with Dystonia and Motor Neuropathy LKN010
Leukoencephalopathy with Metaphyseal Chondrodysplasia LKN009
Leukoencephalopathy with Vanishing White Matter LKN001
Leukoencephalopathy, Brain Calcifications, and Cysts LKN024
Leukoencephalopathy, Cystic, Without Megalencephaly LKN008
Leukoencephalopathy, Hereditary Diffuse, with Spheroids LKN025
Leukoencephalopathy, Progressive, with Ovarian Failure LKN018
Leukomalacia LKM006
Leukonychia Totalis LKN007
Leukoplakia LKP003
Leukoregulin LKR002
Leukorrhea LKR001
Leukostasis LKS001
Leukotriene C4 Synthase Deficiency LKT001
Leydig Cell Hypoplasia LYD011
Leydig Cell Hypoplasia, Type I LYD012
Leydig Cell Tumor LYD001
Li-Fraumeni Syndrome LFR001
Li-Fraumeni Syndrome 2 LFR007
Lice Infestation LCN001
Lichen Amyloidosis LCH014
Lichen Disease LCH004
Lichen Nitidus LCH003
Lichen Planopilaris LCH011
Lichen Planus LCH002
Lichen Planus Pemphigoides LCH013
Lichen Sclerosus LCH009
Lichen Sclerosus Et Atrophicus LCH016
Lichtenstein-Knorr Syndrome LCH015
Liddle Syndrome LDD002
Liebenberg Syndrome LBN004
Lig4 Syndrome LG4001
Light Chain Deposition Disease LGH004
Light Fixation Seizure Syndrome LGH019
Ligneous Conjunctivitis LGN005
Limb Ischemia LMB062
Limb-Girdle Muscular Dystrophy LMB006
Limb-Girdle Muscular Dystrophy, Type 1g LMB047
Limb-Mammary Syndrome LMB008
Limbal Stem Cell Deficiency LMB050
Limbic Encephalitis LMB024
Limbic Encephalitis with Lgi1 Antibodies LMB053
Limited Scleroderma LMT001
Linear Iga Disease LNR006
Linear Porokeratosis LNR004
Linear Skin Defects with Multiple Congenital Anomalies 1 LNR013
Linear Skin Defects with Multiple Congenital Anomalies 2 LNR016
Linear Skin Defects with Multiple Congenital Anomalies 3 LNR014
Lingual Goiter LNG018
Lingual-Facial-Buccal Dyskinesia LNG015
Linitis Plastica LNT001
Lip Cancer LPC002
Lipase Deficiency, Combined LPS020
Lipe-Related Familial Partial Lipodystrophy LPR019
Lipedema LPD026
Lipid Metabolism Disorder LPD008
Lipid Pneumonia LPD001
Lipid Storage Disease LPD009
Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency LPD042
Lipid-Rich Carcinoma LPD003
Lipoadenoma LPD007
Lipoblastoma LPB001
Lipodermatosclerosis LPD014
Lipodystrophy LPD010
Lipodystrophy, Congenital Generalized, Type 1 LPD032
Lipodystrophy, Congenital Generalized, Type 2 LPD033
Lipodystrophy, Congenital Generalized, Type 3 LPD020
Lipodystrophy, Congenital Generalized, Type 4 LPD035
Lipodystrophy, Familial Partial, Type 1 LPD040
Lipodystrophy, Familial Partial, Type 2 LPD015
Lipodystrophy, Familial Partial, Type 3 LPD021
Lipodystrophy, Familial Partial, Type 4 LPD034
Lipodystrophy, Familial Partial, Type 5 LPD030
Lipodystrophy, Familial Partial, Type 6 LPD036
Lipodystrophy, Partial, Acquired LPD019
Lipogranulomatosis LPG001
Lipoic Acid Biosynthesis Defects LPC004
Lipoic Acid Synthetase Deficiency LPC003
Lipoid Congenital Adrenal Hyperplasia LPD012
Lipoid Nephrosis LPD004
Lipoid Proteinosis of Urbach and Wiethe LPD016
Lipoma of Colon LPM002
Lipomatosis LPM005
Lipomatosis, Multiple LPM012
Lipomatosis, Multiple Symmetric LPM010
Lipoprotein Glomerulopathy LPP002
Liposarcoma LPS002
Liposarcoma of the Ovary LPS003
Lipoyltransferase 1 Deficiency LPY002
Lissencephaly LSS002
Lissencephaly 1 LSS005
Lissencephaly 2 LSS006
Lissencephaly 3 LSS009
Lissencephaly 4 LSS010
Lissencephaly 5 LSS025
Lissencephaly 6 with Microcephaly LSS039
Lissencephaly 7 with Cerebellar Hypoplasia LSS030
Lissencephaly 8 LSS035
Lissencephaly with Cerebellar Hypoplasia LSS024
Lissencephaly, X-Linked, 1 LSS036
Lissencephaly, X-Linked, 2 LSS037
Listeria Meningitis LST003
Listeriosis LST001
Livedoid Vasculopathy LVD002
Liver Angiosarcoma LVR002
Liver Cirrhosis LVR012
Liver Disease LVR013
Liver Failure, Infantile, Transient LVR030
Liver Inflammatory Pseudotumor LVR004
Liver Leiomyoma LVR005
Liver Leiomyosarcoma LVR010
Liver Lymphoma LVR006
Liver Rhabdomyosarcoma LVR009
Liver Sarcoma LVR014
Lmna-Related Cardiocutaneous Progeria Syndrome LMN005
Lobar Holoprosencephaly LBR025
Lobomycosis LBM003
Lobular Neoplasia LBL001
Localized Chondrosarcoma LCL005
Localized Hypertrophic Neuropathy LCL011
Localized Lipodystrophy LCL022
Localized Osteosarcoma LCL004
Localized Scleroderma LCL006
Locked-in Syndrome LCK001
Loeffler Endocarditis LFF001
Loeffler Syndrome LFF002
Loeys-Dietz Syndrome LYS001
Loeys-Dietz Syndrome 1 LYS019
Loeys-Dietz Syndrome 2 LYS018
Loeys-Dietz Syndrome 3 LYS021
Loeys-Dietz Syndrome 4 LYS017
Loeys-Dietz Syndrome 5 LYS020
Loiasis LSS001
Long Qt Syndrome LNG028
Long Qt Syndrome 1 LNG044
Long Qt Syndrome 10 LNG045
Long Qt Syndrome 11 LNG046
Long Qt Syndrome 12 LNG056
Long Qt Syndrome 13 LNG057
Long Qt Syndrome 14 LNG098
Long Qt Syndrome 15 LNG096
Long Qt Syndrome 2 LNG047
Long Qt Syndrome 3 LNG048
Long Qt Syndrome 5 LNG050
Long Qt Syndrome 6 LNG051
Long Qt Syndrome 9 LNG053
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency LNG073
Longevity 1 LNG066
Longevity 2 LNG062
Loose Anagen Hair Syndrome LSN002
Lopes-Maciel-Rodan Syndrome LPS021
Louping Ill LPN001
Louse-Borne Relapsing Fever LSB001
Low Compliance Bladder LWC001
Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 LWD006
Low Tension Glaucoma LWT001
Lowe Oculocerebrorenal Syndrome LWC002
Lower Gum Cancer LWR002
Lower Lip Cancer LWR001
Lower Urinary Tract Calculus LWR004
Lrp5-Related Primary Osteoporosis LRP007
Lrrk2-Related Parkinson Disease LRR001
Lubinsky Syndrome LBN003
Lubs X-Linked Mental Retardation Syndrome LBS001
Ludwig's Angina LDW001
Lujan Syndrome LJN002
Lujan-Fryns Syndrome LJN003
Lumbosacral Lipoma LMB003
Lumbosacral Spina Bifida Aperta LMB057
Lumbosacral Spina Bifida Cystica LMB056
Luminal Breast Carcinoma LMN006
Lung Abscess LNG095
Lung Acinar Adenocarcinoma LNG022
Lung Adenoid Cystic Carcinoma LNG011
Lung Adenoma LNG030
Lung Agenesis LNG054
Lung Benign Neoplasm LNG031
Lung Cancer LNG032
Lung Cancer Susceptibility 1 LNG109
Lung Cancer Susceptibility 3 LNG064
Lung Cancer Susceptibility 4 LNG065
Lung Cancer Susceptibility 5 LNG086
Lung Carcinoma in Situ LNG003
Lung Clear Cell Carcinoma LNG001
Lung Combined Type Small Cell Carcinoma LNG019
Lung Disease LNG099
Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome LNG105
Lung Giant Cell Carcinoma LNG017
Lung Large Cell Carcinoma LNG035
Lung Leiomyoma LNG036
Lung Leiomyosarcoma LNG023
Lung Lymphoma LNG013
Lung Meningioma LNG009
Lung Mixed Small Cell and Squamous Cell Carcinoma LNG007
Lung Mucoepidermoid Carcinoma LNG091
Lung Occult Squamous Cell Carcinoma LNG012
Lung Papillary Adenocarcinoma LNG016
Lung Sarcoma LNG037
Lung Squamous Cell Carcinoma LNG039
Lupus Erythematosus LPS004
Luscan-Lumish Syndrome LSC003
Luteoma LTM002
Lutheran Null LTH044
Lutheran Suppressor, X-Linked LTH045
Lyme Disease LYM017
Lymph Node Cancer LYM020
Lymph Node Disease LYM116
Lymph Node Tuberculosis LYM010
Lymphadenitis LYM021
Lymphangiectasis LYM035
Lymphangioleiomyomatosis LYM007
Lymphangioma LYM022
Lymphangiomatosis LYM095
Lymphangiosarcoma LYM008
Lymphangitis LYM014
Lymphatic Malformations LYM127
Lymphatic System Cancer LYM023
Lymphatic System Disease LYM024
Lymphedema LYM025
Lymphedema-Distichiasis Syndrome LYM029
Lymphedema, Hereditary, Ia LYM110
Lymphedema, Hereditary, Ib LYM059
Lymphedema, Hereditary, Ic LYM057
Lymphedema, Hereditary, Id LYM109
Lymphedema, Hereditary, Ii LYM130
Lymphedema, Hereditary, Iii LYM128
Lymphedema, Primary, with Myelodysplasia LYM094
Lymphoadenopathic Mastocytosis with Eosinophilia LYM096
Lymphoblastic Leukemia LYM026
Lymphoblastic Leukemia, Acute, with Lymphomatous Features LYM138
Lymphoblastic Lymphoma LYM040
Lymphocele LYM005
Lymphocytes Absent LYM041
Lymphocytic Choriomeningitis LYM009
Lymphocytic Colitis LYM042
Lymphocytic Gastritis LYM015
Lymphocytic Hypophysitis LYM043
Lymphocytic Vasculitis LYM045
Lymphoepithelioma-Like Carcinoma LYM006
Lymphoepithelioma-Like Thymic Carcinoma LYM018
Lymphogranuloma Venereum LYM011
Lymphohistiocytoid Mesothelioma LYM001
Lymphoid Interstitial Pneumonia LYM004
Lymphoid Leukemia LYM067
Lymphoma LYM118
Lymphoma, Hodgkin, Classic LYM133
Lymphoma, Hodgkin, X-Linked Pseudoautosomal LYM141
Lymphoma, Large-Cell, Immunoblastic LYM048
Lymphoma, Mucosa-Associated Lymphoid Type LYM129
Lymphoma, Non-Hodgkin, Familial LYM143
Lymphoma, Small Cleaved-Cell, Diffuse LYM049
Lymphomatoid Granulomatosis LYM051
Lymphomatoid Papulosis LYM052
Lymphomatous Meningitis LYM098
Lymphopenia LYM027
Lymphoplasmacyte-Rich Meningioma LYM002
Lymphoplasmacytic Lymphoma LYM012
Lymphoproliferative Syndrome LYM033
Lymphoproliferative Syndrome 1 LYM106
Lymphoproliferative Syndrome 2 LYM107
Lymphoproliferative Syndrome, X-Linked, 1 LYM113
Lymphoproliferative Syndrome, X-Linked, 2 LYM114
Lymphosarcoma LYM019
Lynch Syndrome LYN001
Lynch Syndrome I LYN004
Lysinuric Protein Intolerance LYS003
Lysis by Alloreactive Natural Killer Cells LYS023
Lysosomal Acid Lipase Deficiency LYS012
Lysosomal Storage Disease LYS002
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