Disease Name Symbol Acronym
L-2-Hydroxyglutaric Aciduria L2H001
L-Arginine:glycine Amidinotransferase Deficiency LRG010
L-Ferritin Deficiency, Dominant and Recessive LFR006
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
Lactase Deficiency, Congenital LCT013
Lactase Persistence/nonpersistence LCT019
Lactate Dehydrogenase B Deficiency LCT017
Lactic Acidosis LCT001
Lacticacidemia Due to Pdx1 Deficiency LCT005
Lactocele LCT003
Lactose Intolerance LCT002
Ladd Syndrome LDD001
Lagophthalmos LGP001
Lama2-Related Muscular Dystrophy LM2001
Lama3-Related Junctional Epidermolysis Bullosa LM3001
Lama4-Related Dilated Cardiomyopathy LM4001
Lamb3-Related Junctional Epidermolysis Bullosa LMB026
Lambert-Eaton Myasthenic Syndrome LMB002
Lamc2-Related Junctional Epidermolysis Bullosa LMC001
Laminopathy Type Decaudain-Vigouroux LMN004
Landau-Kleffner Syndrome LND001
Langer Mesomelic Dwarfism LNG055
Langer Mesomelic Dysplasia LNG040
Langerhans Cell Sarcoma LNG004
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
Large1-Related Muscle Diseases LRG018
Laron Dwarfism LRN004
Larsen Syndrome LRS001
Larsen Syndrome, Autosomal Recessive LRS005
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
Lassueur-Graham-Little Syndrome LSS004
Late Congenital Syphilis LTC001
Late-Infantile Neuronal Ceroid Lipofuscinosis LTN016
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
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
Latex Allergy LTX001
Lathosterolosis LTH002
Lattice Corneal Dystrophy LTT001
Lattice Corneal Dystrophy Type Ii LTT008
Laurence-Moon Syndrome LRN001
Laurin-Sandrow Syndrome LRN006
Lca5-Related Leber Congenital Amaurosis LC5001
Lcad Deficiency LCD001
Lchad Deficiency LCH005
Ldb3-Related Dilated Cardiomyopathy LDB001
Ldlr-Related Familial Hypercholesterolemia, Autosomal Dominant LDL002
Ldlrap1-Related Familial Hypercholesterolemia, Autosomal Recessive LDL003
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 with Dystonia LBR020
Leber Optic Atrophy LBR030
Leech Infestation LCH001
Left Ventricular Noncompaction LFT003
Left Ventricular Noncompaction 1, with or Without Congenital Heart Defects LFT013
Left Ventricular Noncompaction 10 LFT018
Left Ventricular Noncompaction 2 LFT011
Left Ventricular Noncompaction 3, with or Without Dilated Cardiomyopathy LFT012
Left Ventricular Noncompaction 7 LFT020
Left Ventricular Noncompaction 8 LFT017
Left Ventricular Outflow Tract Obstruction LFT009
Left-Right Axis Malformations LFT004
Lefty2-Related Visceral Heterotaxy LFT010
Legg-Calve-Perthes Disease LGG001
Legionaire Disease LGN004
Legionellosis LGN002
Legius Syndrome LGS001
Leigh Syndrome LGH007
Leigh Syndrome with Leukodystrophy LGH012
Leigh Syndrome with Nephrotic Syndrome LGH017
Leigh Syndrome, French-Canadian Type LGH016
Leigh-Like Syndrome LGH008
Leiomyoma LMY002
Leiomyoma Cutis LMY001
Leiomyoma, Uterine, Somatic LMY013
Leiomyomatosis LMY003
Leiomyomatosis and Renal Cell Cancer LMY005
Leiomyosarcoma LMY004
Leishmaniasis LSH001
Lemierre's Syndrome LMR001
Lennox-Gastaut Syndrome LNN001
Lens Disease LNS003
Lens Subluxation LNS001
Lentiginosis, Inherited Patterned LNT008
Lentigo Maligna Melanoma LNT002
Lenz Microphthalmia Syndromic LNZ004
Lenz-Majewski Hyperostotic Dwarfism LNZ003
Leopard Syndrome 1 LPR012
Leopard Syndrome 2 LPR011
Leopard Syndrome 3 LPR007
Leprechaunism LPR018
Lepromatous Leprosy LPR001
Leprosy LPR003
Leprosy 4 LPR016
Leprosy 5 LPR017
Leptomeningeal Amyloidosis LPT007
Leptospirosis LPT001
Leri-Weill Dyschondrosteosis LRW001
Lesch-Nyhan Syndrome LSC001
Lesion of Sciatic Nerve LSN001
Lethal Arteriopathy Syndrome Due to Fibulin-4 Deficiency LTH028
Lethal Congenital Contractural Syndrome 2 LTH016
Lethal Congenital Contractural Syndrome 3 LTH015
Lethal Congenital Contracture Syndrome LTH003
Lethal Congenital Contracture Syndrome 1 LTH007
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 Midline Granuloma LTH001
Lethal Restrictive Dermopathy, Lmna-Related LTH013
Lethal Restrictive Dermopathy, Zmpste24-Related LTH014
Letterer-Siwe Disease LTT002
Leukemia LKM002
Leukemia, Acute Lymphoblastic LKM062
Leukemia, Acute Lymphoblastic 2 LKM055
Leukemia, Acute Lymphoblastic 3 LKM060
Leukemia, Acute Myeloid LKM061
Leukemia, Acute Myelomonocytic, Somatic, Somatic LKM066
Leukemia, Acute Promyelocytic, Somatic LKM067
Leukemia, B-Cell, Chronic LKM004
Leukemia, Chronic Lymphocytic 1 LKM050
Leukemia, Chronic Lymphocytic 2 LKM056
Leukemia, Chronic Lymphocytic 3 LKM051
Leukemia, Chronic Myeloid, Somatic LKM068
Leukemia, Megakaryoblastic, with or Without Down Syndrome, Somatic LKM059
Leukocoria LKC002
Leukocyte Adhesion Deficiency LKC001
Leukocyte Adhesion Deficiency, Type Iii LKC005
Leukocyte Disease LKC003
Leukodystrophy LKD001
Leukodystrophy, Adult-Onset, Autosomal Dominant LKD007
Leukodystrophy, Hypomyelinating, 10 LKD020
Leukodystrophy, Hypomyelinating, 11 LKD021
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
Leukoencephalopathy with Ataxia LKN017
Leukoencephalopathy with Ataxia Due to Clc-2 Deficiency LKN021
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation LKN003
Leukoencephalopathy with Dystonia and Motor Neuropathy LKN010
Leukoencephalopathy with Metaphyseal Chondrodysplasia LKN009
Leukoencephalopathy with Vanishing White Matter LKN001
Leukoencephalopathy, Cerebral Calcifications, and Cysts LKN006
Leukoencephalopathy, Cystic, Without Megalencephaly LKN008
Leukoencephalopathy, Diffuse Hereditary, with Spheroids LKN019
Leukoencephalopathy, Progressive, with Ovarian Failure LKN018
Leukomalacia LKM006
Leukonychia Totalis LKN007
Leukoplakia LKP003
Leukorrhea LKR001
Leukostasis LKS001
Leukotriene C4 Synthase Deficiency LKT001
Levy-Shanske Syndrome LVY002
Leydig Cell Hypoplasia LYD011
Leydig Cell Hypoplasia with Pseudohermaphroditism LYD005
Leydig Cell Hypoplasia/agenesis LYD004
Leydig Cell Tumor LYD001
Lfng-Related Spondylocostal Dysostosis, Autosomal Recessive LFN001
Lhx3-Related Combined Pituitary Hormone Deficiency LHX001
Lhx4-Related Combined Pituitary Hormone Deficiency LHX002
Li-Fraumeni Syndrome LFR001
Li-Fraumeni Syndrome 3 LFR004
Li-Fraumeni Syndrome, Chek2-Related LFR003
Liang Distal Myopathy LNG097
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
Lichtenstein-Knorr Syndrome LCH015
Liddle Syndrome LDD002
Liddle Syndrome, Scnn1b-Related LDD003
Liddle Syndrome, Scnn1g-Related LDD004
Liebenberg Syndrome LBN004
Lig4 Syndrome LG4001
Light Chain Deposition Disease LGH004
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
Limited Scleroderma LMT001
Linear Focal Dermal Elastosis LNR011
Linear Iga Disease LNR006
Linear Porokeratosis LNR004
Linear Skin Defects with Multiple Congenital Anomalies LNR015
Linear Skin Defects with Multiple Congenital Anomalies 1 LNR013
Linear Skin Defects with Multiple Congenital Anomalies 3 LNR014
Lingual Goiter LNG018
Lingual-Facial-Buccal Dyskinesia LNG015
Linitis Plastica LNT001
Lip Cancer LPC002
Lip Disease LPD027
Lipase Deficiency, Combined LPS020
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
Lipn-Related Autosomal Recessive Congenital Ichthyosis LPN003
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, 2 LPD037
Lipodystrophy, Familial Partial, Type 1 LPD040
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 Adrenal Hyperplasia LPD011
Lipoid Nephrosis LPD004
Lipoma LPM004
Lipoma of Colon LPM002
Lipomatosis LPM005
Lipomatosis, Multiple Symmetric LPM010
Lipoprotein Glomerulopathy LPP002
Lipoprotein Lipase Deficiency LPP001
Liposarcoma LPS002
Liposarcoma of the Ovary LPS003
Lipoyl Transferase 2 Deficiency LPY003
Lipoyltransferase 1 Deficiency LPY002
Lis1-Associated Lissencephaly/subcortical Band Heterotopia LS1001
Lissencephaly LSS002
Lissencephaly 1 LSS005
Lissencephaly 2 LSS006
Lissencephaly 3 LSS009
Lissencephaly 4 LSS010
Lissencephaly 5 LSS025
Lissencephaly 6, with Microcephaly LSS026
Lissencephaly 7 with Cerebellar Hypoplasia LSS030
Lissencephaly with Cerebellar Hypoplasia LSS024
Lissencephaly, X-Linked LSS027
Lissencephaly, X-Linked 2 LSS012
Listeria Meningitis LST003
Listeriosis LST001
Livedoid Vasculopathy LVD002
Liver Angiosarcoma LVR002
Liver Cirrhosis LVR012
Liver Disease LVR013
Liver Failure, Transient Infantile LVR028
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
Lmna-Related Dilated Cardiomyopathy LMN001
Lmna-Related Emery-Dreifuss Muscular Dystrophy, Autosomal LMN002
Lmna-Related Muscle Diseases LMN003
Lmod3-Related Nemaline Myopathy LMD001
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 1 LNG044
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 5 LNG050
Long Qt Syndrome 6 LNG051
Long Qt Syndrome 9 LNG053
Long Qt Syndrome-10 LNG094
Long Qt Syndrome-11 LNG093
Long Qt Syndrome-3 LNG092
Loose Anagen Hair Syndrome LSN002
Louping Ill LPN001
Louse-Borne Relapsing Fever LSB001
Low Compliance Bladder LWC001
Low Gamma-Gt Familial Intrahepatic Cholestasis LWG002
Lowe Syndrome LWS003
Lower Gum Cancer LWR002
Lower Lip Cancer LWR001
Lower Urinary Tract Calculus LWR004
Lrat-Related Leber Congenital Amaurosis LRT001
Lrat-Related Retinitis Pigmentosa LRT002
Lrba-Related Common Variable Immune Deficiency LRB002
Lrba-Related Common Variable Immune Deficiency with Autoimmunity LRB001
Lrig2-Related Urofacial Syndrome LRG013
Lrp5-Related Autosomal Dominant Osteopetrosis LRP002
Lrp5-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant LRP003
Lrp5-Related Familial Exudative Vitreoretinopathy, Autosomal Recessive LRP004
Lrp6-Related Coronary Artery Disease Susceptibility LRP006
Lrrk2-Related Parkinson Disease LRR001
Ltbp2-Related Primary Congenital Glaucoma LTB001
Ltbp2-Related Weill-Marchesani Syndrome LTB002
Ltbp4-Related Cutis Laxa LTB003
Lubinsky Syndrome LBN003
Lucey-Driscoll Syndrome LCY001
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 2 LNG072
Lung Cancer Susceptibility 3 LNG064
Lung Cancer Susceptibility 4 LNG065
Lung Cancer Susceptibility 5 LNG086
Lung Cancer, Egfr-Related LNG059
Lung Cancer, Gstm1-Related LNG060
Lung Carcinoma in Situ LNG003
Lung Clear Cell Carcinoma LNG001
Lung Combined Type Small Cell Carcinoma LNG019
Lung Disease LNG099
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
Luteoma LTM002
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
Lymphoadenopathic Mastocytosis with Eosinophilia LYM096
Lymphoblastic Leukemia LYM026
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, Large-Cell, Immunoblastic LYM048
Lymphoma, Malt, Somatic LYM104
Lymphoma, Non-Hodgkin LYM115
Lymphoma, Small Cleaved-Cell, Diffuse LYM049
Lymphomatoid Granulomatosis LYM051
Lymphomatoid Papulosis LYM052
Lymphomatous Meningitis LYM098
Lymphopenia LYM027
Lymphoplasmacyte-Rich Meningioma LYM002
Lymphoproliferative Syndrome LYM033
Lymphoproliferative Syndrome 1 LYM106
Lymphoproliferative Syndrome 2 LYM107
Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 LYM054
Lymphoproliferative Syndrome, X-Linked, 1 LYM113
Lymphoproliferative Syndrome, X-Linked, 2 LYM114
Lymphosarcoma LYM019
Lynch Syndrome LYN001
Lysinuric Protein Intolerance LYS003
Lysosomal Acid Phosphatase Deficiency LYS004
Lysosomal Storage Disease LYS002
Lysyl Hydroxylase 3 Deficiency LYS010
Lyz-Related Familial Visceral Amyloidosis LYZ001
Lztfl1- Related Bardet-Biedl Syndrome LZT001
Lztr1-Related Noonan Syndrome LZT002