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Human Disease Vocabulary Browser
The current vocabulary contains human disease, syndrome, and condition terms from Online Mendelian Inheritance in Man (OMIM database).

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Human Diseases/Syndromes Beginning with "L"

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OMIM IDHuman Disease
OMIM:236792 L-2-Hydroxyglutaric Aciduria; L2HGA
OMIM:149600 Labia Minora, Incomplete Adhesion of
OMIM:149700 Lacrimal Duct Defect; LCDD
OMIM:149730 Lacrimoauriculodentodigital Syndrome; LADD
OMIM:223000 Lactase Deficiency, Congenital
OMIM:614128 Lactate Dehydrogenase B Deficiency; LDHBD
OMIM:150170 Lactic Acidosis, Chronic Adult Form
OMIM:245450 Lactic Aciduria Due to D-Lactic Acid
OMIM:223100 Lactose Intolerance, Adult Type
OMIM:245550 Lambert Syndrome
OMIM:245552 Lambotte Syndrome
OMIM:616803 Lamb-Shaffer Syndrome; LAMSHF
OMIM:604856 Langerhans Cell Histiocytosis
OMIM:249700 Langer Mesomelic Dysplasia; LMD
OMIM:617182 Language Delay and Attention Deficit-Hyperactivity Disorder/Cognitive Impairment with or without Cardiac Arrhythmia; LADCI
OMIM:262500 Laron Syndrome
OMIM:608545 Larsen-Like Syndrome
OMIM:245650 Larsen-Like Syndrome, Lethal Type
OMIM:150250 Larsen Syndrome; LRS
OMIM:150260 Laryngeal Abductor Paralysis
OMIM:308850 Laryngeal Abductor Paralysis
OMIM:606183 Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy
OMIM:150270 Laryngeal Adductor Paralysis; LAP
OMIM:607132 Laryngeal Atresia, Encephalocele, and Limb Deformities
OMIM:150360 Laryngeal Web, Familial
OMIM:150280 Laryngomalacia
OMIM:245660 Laryngoonychocutaneous Syndrome; LOCS
OMIM:150300 Larynx, Congenital Partial Atresia of
OMIM:605670 Late-Onset Retinal Degeneration; LORD
OMIM:601086 Laterality Defects, Autosomal Dominant
OMIM:130720 Lateral Meningocele Syndrome; LMNS
OMIM:608814 Lateral Semicircular Canal Malformation, Familial, with External and Middle Ear Abnormalities
OMIM:607330 Lathosterolosis
OMIM:150500 Lattice Degeneration of Retina Leading to Retinal Detachment
OMIM:245800 Laurence-Moon Syndrome; LNMS
OMIM:135750 Laurin-Sandrow Syndrome; LSS
OMIM:150550 Lazy Leukocyte Syndrome
OMIM:611755 Leber Congenital Amaurosis 10; LCA10
OMIM:613837 Leber Congenital Amaurosis 11; LCA11
OMIM:610612 Leber Congenital Amaurosis 12; LCA12
OMIM:612712 Leber Congenital Amaurosis 13; LCA13
OMIM:613341 Leber Congenital Amaurosis 14; LCA14
OMIM:613843 Leber Congenital Amaurosis 15; LCA15
OMIM:614186 Leber Congenital Amaurosis 16; LCA16
OMIM:615360 Leber Congenital Amaurosis 17; LCA17
OMIM:204000 Leber Congenital Amaurosis 1; LCA1
OMIM:204100 Leber Congenital Amaurosis 2; LCA2
OMIM:604232 Leber Congenital Amaurosis 3; LCA3
OMIM:604393 Leber Congenital Amaurosis 4; LCA4
OMIM:604537 Leber Congenital Amaurosis 5; LCA5
OMIM:613826 Leber Congenital Amaurosis 6; LCA6
OMIM:613829 Leber Congenital Amaurosis 7; LCA7
OMIM:613835 Leber Congenital Amaurosis 8; LCA8
OMIM:608553 Leber Congenital Amaurosis 9; LCA9
OMIM:535000 Leber Optic Atrophy
OMIM:500001 Leber Optic Atrophy and Dystonia
OMIM:308905 Leber Optic Atrophy, Susceptibility to
OMIM:245900 Lecithin:cholesterol Acyltransferase Deficiency
OMIM:601877 Left-Right Determination Factor 2; LEFTY2
OMIM:615396 Left Ventricular Noncompaction 10; LVNC10
OMIM:604169 Left Ventricular Noncompaction 1; LVNC1
OMIM:609470 Left Ventricular Noncompaction 2; LVNC2
OMIM:615092 Left Ventricular Noncompaction 7; LVNC7
OMIM:615373 Left Ventricular Noncompaction 8; LVNC8
OMIM:246000 Leg, Absence Deformity of, with Congenital Cataract
OMIM:150600 Legg-Calve-Perthes Disease; LCPD
OMIM:608556 Legionnaire Disease, Susceptibility to
OMIM:611431 Legius Syndrome
OMIM:150590 Leg Ulcers, Familial, of Juvenile Onset
OMIM:220111 Leigh Syndrome, French Canadian Type; LSFC
OMIM:256000 Leigh Syndrome; LS
OMIM:150700 Leiomyoma of Vulva and Esophagus
OMIM:308940 Leiomyomatosis, Diffuse, with Alport Syndrome; DL-ATS
OMIM:150699 Leiomyoma, Uterine; UL
OMIM:602068 Leishmaniasis, Tegumentary, Susceptibility to
OMIM:608290 Lelis Syndrome
OMIM:150900 Lentigines
OMIM:151000 Lentiginosis, Centrofacial Neurodysraphic
OMIM:151001 Lentiginosis, Inherited Patterned
OMIM:151050 Lenz-Majewski Hyperostotic Dwarfism; LMHD
OMIM:151100 Leopard Syndrome 1; LPRD1
OMIM:611554 Leopard Syndrome 2; LPRD2
OMIM:613707 Leopard Syndrome 3; LPRD3
OMIM:609888 Leprosy, Susceptibility to, 1; LPRS1
OMIM:607572 Leprosy, Susceptibility to, 2; LPRS2
OMIM:246300 Leprosy, Susceptibility to, 3; LPRS3
OMIM:610988 Leprosy, Susceptibility to, 4; LPRS4
OMIM:613223 Leprosy, Susceptibility to, 5; LPRS5
OMIM:613407 Leprosy, Susceptibility to, 6; LPRS6
OMIM:614962 Leptin Deficiency or Dysfunction; LEPD
OMIM:614963 Leptin Receptor Deficiency
OMIM:127300 Leri-Weill Dyschondrosteosis; LWD
OMIM:308950 Lesch-Nyhan Phenotype with Normal HGPRT
OMIM:300322 Lesch-Nyhan Syndrome; LNS
OMIM:611890 Lethal Arthrogryposis with Anterior Horn Cell Disease; LAAHD
OMIM:617022 Lethal Congenital Contracture Syndrome 10; LCCS10
OMIM:617194 Lethal Congenital Contracture Syndrome 11; LCCS11
OMIM:253310 Lethal Congenital Contracture Syndrome 1; LCCS1
OMIM:607598 Lethal Congenital Contracture Syndrome 2; LCCS2
OMIM:611369 Lethal Congenital Contracture Syndrome 3; LCCS3
OMIM:614915 Lethal Congenital Contracture Syndrome 4; LCCS4
OMIM:615368 Lethal Congenital Contracture Syndrome 5; LCCS5
OMIM:616248 Lethal Congenital Contracture Syndrome 6; LCCS6
OMIM:616286 Lethal Congenital Contracture Syndrome 7; LCCS7
OMIM:616287 Lethal Congenital Contracture Syndrome 8; LCCS8
OMIM:616503 Lethal Congenital Contracture Syndrome 9; LCCS9
OMIM:601356 Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
OMIM:246400 Letterer-Siwe Disease
OMIM:613065 Leukemia, Acute Lymphoblastic; ALL
OMIM:613067 Leukemia, Acute Lymphoblastic, Susceptibility to, 2; ALL2
OMIM:615545 Leukemia, Acute Lymphoblastic, Susceptibility to, 3; ALL3
OMIM:151380 Leukemia, Acute Monocytic
OMIM:246470 Leukemia, Acute Myelocytic, with Polyposis Coli and Colon Cancer
OMIM:601626 Leukemia, Acute Myeloid; AML
OMIM:308960 Leukemia, Acute, ?X-Linked
OMIM:151400 Leukemia, Chronic Lymphocytic; CLL
OMIM:609630 Leukemia, Chronic Lymphocytic, Susceptibility to, 1
OMIM:109543 Leukemia, Chronic Lymphocytic, Susceptibility to, 2
OMIM:612557 Leukemia, Chronic Lymphocytic, Susceptibility to, 3
OMIM:612558 Leukemia, Chronic Lymphocytic, Susceptibility to, 4
OMIM:612559 Leukemia, Chronic Lymphocytic, Susceptibility to, 5
OMIM:608232 Leukemia, Chronic Myeloid; CML
OMIM:612840 Leukocyte Adhesion Deficiency, Type III; LAD3
OMIM:116920 Leukocyte Adhesion Deficiency, Type I; LAD
OMIM:151500 Leukocyte Nuclear Appendages, Hereditary Prevalence of
OMIM:616763 Leukodystrophy and Acquired Microcephaly with or without Dystonia;
OMIM:169500 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant; ADLD
OMIM:616420 Leukodystrophy, Hypomyelinating, 10; HLD10
OMIM:616494 Leukodystrophy, Hypomyelinating, 11; HLD11
OMIM:616683 Leukodystrophy, Hypomyelinating, 12; HLD12
OMIM:616881 Leukodystrophy, Hypomyelinating, 13; HLD13
OMIM:608804 Leukodystrophy, Hypomyelinating, 2; HLD2
OMIM:260600 Leukodystrophy, Hypomyelinating, 3; HLD3
OMIM:612233 Leukodystrophy, Hypomyelinating, 4; HLD4
OMIM:610532 Leukodystrophy, Hypomyelinating, 5; HLD5
OMIM:612438 Leukodystrophy, Hypomyelinating, 6; HLD6
OMIM:607694 Leukodystrophy, Hypomyelinating, 7, with or without Oligodontia and/or Hypogonadotropic Hypogonadism; HLD7
OMIM:614381 Leukodystrophy, Hypomyelinating, 8, with or without Oligodontia and/or Hypogonadotropic Hypogonadism; HLD8
OMIM:616140 Leukodystrophy, Hypomyelinating, 9; HLD9
OMIM:608809 Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema;
OMIM:614561 Leukoencephalopathy, Brain Calcifications, and Cysts; LCC
OMIM:612951 Leukoencephalopathy, Cystic, without Megalencephaly
OMIM:221820 Leukoencephalopathy, Hereditary Diffuse, with Spheroids; HDLS
OMIM:615889 Leukoencephalopathy, Progressive, with Ovarian Failure; LKENP
OMIM:615651 Leukoencephalopathy with Ataxia; LKPAT
OMIM:611105 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation; LBSL
OMIM:613724 Leukoencephalopathy with Dystonia and Motor Neuropathy
OMIM:300660 Leukoencephalopathy with Metaphyseal Chondrodysplasia; LKMCD
OMIM:603896 Leukoencephalopathy with Vanishing White Matter; VWM
OMIM:246500 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
OMIM:602994 Leukoregulin
OMIM:614037 Leukotriene C4 Synthase Deficiency
OMIM:151610 Levator-Medial Rectus Synkinesis
OMIM:238320 Leydig Cell Hypoplasia, Type I
OMIM:615604 L-Ferritin Deficiency; LFTD
OMIM:151620 Lichen Planus, Familial
OMIM:151590 Lichen Sclerosus Et Atrophicus; LSA
OMIM:616291 Lichtenstein-Knorr Syndrome; LIKNS
OMIM:246550 Lichtenstein Syndrome
OMIM:177200 Liddle Syndrome; LIDLS
OMIM:186550 Liebenberg Syndrome; LBNBG
OMIM:151623 Li-Fraumeni Syndrome 1; LFS1
OMIM:609265 Li-Fraumeni Syndrome 2; LFS2
OMIM:609266 Li-Fraumeni Syndrome 3; LFS3
OMIM:606593 LIG4 Syndrome
OMIM:603530 Light Fixation Seizure Syndrome
OMIM:246555 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity
OMIM:609115 Limb-Girdle Muscular Dystrophy, Type 1G; LGMD1G
OMIM:603543 Limb-Mammary Syndrome; LMS
OMIM:309801 Linear Skin Defects with Multiple Congenital Anomalies 1; LSDMCA1
OMIM:300887 Linear Skin Defects with Multiple Congenital Anomalies 2; LSDMCA2
OMIM:300952 Linear Skin Defects with Multiple Congenital Anomalies 3; LSDMCA3
OMIM:246650 Lipase Deficiency, Combined
OMIM:614103 Lipedema
OMIM:151640 Lip, Hamartomatous
OMIM:255100 Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency; LSMFLAD
OMIM:151630 Lip, Median Nodule of Upper
OMIM:608594 Lipodystrophy, Congenital Generalized, Type 1; CGL1
OMIM:269700 Lipodystrophy, Congenital Generalized, Type 2; CGL2
OMIM:612526 Lipodystrophy, Congenital Generalized, Type 3; CGL3
OMIM:613327 Lipodystrophy, Congenital Generalized, Type 4; CGL4
OMIM:608600 Lipodystrophy, Familial Partial, Type 1; FPLD1
OMIM:151660 Lipodystrophy, Familial Partial, Type 2; FPLD2
OMIM:604367 Lipodystrophy, Familial Partial, Type 3; FPLD3
OMIM:613877 Lipodystrophy, Familial Partial, Type 4; FPLD4
OMIM:615238 Lipodystrophy, Familial Partial, Type 5; FPLD5
OMIM:615980 Lipodystrophy, Familial Partial, Type 6; FPLD6
OMIM:608154 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones
OMIM:608709 Lipodystrophy, Partial, Acquired, Susceptibility To; APLD
OMIM:613913 Lipodystrophy, Partial, Acquired, with Low Complement Component C3, with or without Glomerulonephritis; APLDC3
OMIM:201710 Lipoid Congenital Adrenal Hyperplasia; LCAH
OMIM:247100 Lipoid Proteinosis of Urbach and Wiethe
OMIM:151700 Lipoma of the Conjunctiva
OMIM:151900 Lipomatosis, Multiple
OMIM:151800 Lipomatosis, Multiple Symmetric; MSL
OMIM:609537 Lipomyelomeningocele
OMIM:611771 Lipoprotein Glomerulopathy; LPG
OMIM:609708 Lipoprotein Lipase; LPL
OMIM:152300 Lipoprotein Types--Lt System
OMIM:152400 Lipoprotein, Variant of Beta
OMIM:616299 Lipoyltransferase 1 Deficiency; LIPT1D
OMIM:247150 Lip Prints
OMIM:607432 Lissencephaly 1; LIS1
OMIM:257320 Lissencephaly 2; LIS2
OMIM:611603 Lissencephaly 3; LIS3
OMIM:614019 Lissencephaly 4; LIS4
OMIM:615191 Lissencephaly 5; LIS5
OMIM:616212 Lissencephaly 6 with Microcephaly; LIS6
OMIM:616342 Lissencephaly 7 with Cerebellar Hypoplasia; LIS7
OMIM:617255 Lissencephaly 8; LIS8
OMIM:604382 Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia
OMIM:601160 Lissencephaly Type III and Bone Dysplasia
OMIM:300067 Lissencephaly, X-Linked, 1; LISX1
OMIM:300215 Lissencephaly, X-Linked, 2; LISX2
OMIM:152420 Lithium Transport
OMIM:613070 Liver Failure, Infantile, Transient; LFIT
OMIM:605944 Liver Fibrocystic Disease and Polydactyly
OMIM:609192 Loeys-Dietz Syndrome 1; LDS1
OMIM:610168 Loeys-Dietz Syndrome 2; LDS2
OMIM:613795 Loeys-Dietz Syndrome 3; LDS3
OMIM:614816 Loeys-Dietz Syndrome 4; LDS4
OMIM:615582 Loeys-Dietz Syndrome 5; LDS5
OMIM:609016 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
OMIM:603376 Long Chain Fatty Acids, Defect in Transport of
OMIM:611819 Long QT Syndrome 10; LQT10
OMIM:611820 Long QT Syndrome 11; LQT11
OMIM:612955 Long QT Syndrome 12; LQT12
OMIM:613485 Long QT Syndrome 13; LQT13
OMIM:616247 Long QT Syndrome 14; LQT14
OMIM:616249 Long QT Syndrome 15; LQT15
OMIM:192500 Long QT Syndrome 1; LQT1
OMIM:613688 Long QT Syndrome 2; LQT2
OMIM:603830 Long QT Syndrome 3; LQT3
OMIM:613695 Long QT Syndrome 5; LQT5
OMIM:613693 Long QT Syndrome 6; LQT6
OMIM:611818 Long QT Syndrome 9; LQT9
OMIM:112430 Long-Thumb Brachydactyly Syndrome
OMIM:600628 Loose Anagen Hair Syndrome
OMIM:605028 Low Density Lipoprotein Cholesterol, Mild Elevation of
OMIM:152450 Low Density Lipoprotein, Variation in Molecular Weight of
OMIM:309000 Lowe Oculocerebrorenal Syndrome; OCRL
OMIM:600252 Lowry-Maclean Syndrome
OMIM:300260 Lubs X-Linked Mental Retardation Syndrome; MRXSL
OMIM:309520 Lujan-Fryns Syndrome
OMIM:152550 Lumbar Stenosis, Familial
OMIM:265430 Lung Agenesis
OMIM:601612 Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome;
OMIM:211980 Lung Cancer
OMIM:608935 Lung Cancer Susceptibility 1; LNCR1
OMIM:612571 Lung Cancer Susceptibility 3; LNCR3
OMIM:612593 Lung Cancer Susceptibility 4; LNCR4
OMIM:614210 Lung Cancer Susceptibility 5; LNCR5
OMIM:617241 Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome;
OMIM:616831 Luscan-Lumish Syndrome; LLS
OMIM:152800 Lymphangiectasia, Intestinal
OMIM:265300 Lymphangiectasia, Pulmonary, Congenital; CPL
OMIM:606690 Lymphangioleiomyomatosis; LAM
OMIM:152900 Lymphedema and Cerebral Arteriovenous Anomaly
OMIM:601927 Lymphedema, Cardiac Septal Defects, and Characteristic Facies
OMIM:247440 Lymphedema, Congenital Recessive
OMIM:153400 Lymphedema-Distichiasis Syndrome
OMIM:153100 Lymphedema, Hereditary, IA; LMPH1A
OMIM:611944 Lymphedema, Hereditary, IB; LMPH1B
OMIM:613480 Lymphedema, Hereditary, Ic; LMPH1C
OMIM:615907 Lymphedema, Hereditary, ID; LMPH1D
OMIM:616843 Lymphedema, Hereditary, III; LMPH3
OMIM:153200 Lymphedema, Hereditary, II; LMPH2
OMIM:247410 Lymphedema-Hypoparathyroidism Syndrome
OMIM:614038 Lymphedema, Primary, with Myelodysplasia
OMIM:247640 Lymphoblastic Leukemia, Acute, with Lymphomatous Features; LALL
OMIM:247430 Lymphoblastic Transformation, Inhibition of
OMIM:247450 Lymphoblastic Transformation, Intrinsic Defect in
OMIM:153245 Lymphoid Enhancer-Binding Factor 1; LEF1
OMIM:247610 Lymphoid Interstitial Pneumonia; LIP
OMIM:247630 Lymphoid System Deterioration, Progressive
OMIM:247650 Lymphokine Deficiency
OMIM:236000 Lymphoma, Hodgkin, Classic; CHL
OMIM:300221 Lymphoma, Hodgkin, X-Linked Pseudoautosomal
OMIM:400021 Lymphoma, Hodgkin, Y-Linked Pseudoautosomal
OMIM:137245 Lymphoma, Mucosa-Associated Lymphoid Type
OMIM:605027 Lymphoma, Non-Hodgkin, Familial
OMIM:247800 Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis
OMIM:613011 Lymphoproliferative Syndrome 1; LPFS1
OMIM:615122 Lymphoproliferative Syndrome 2; LPFS2
OMIM:308240 Lymphoproliferative Syndrome, X-Linked, 1; XLP1
OMIM:300635 Lymphoproliferative Syndrome, X-Linked, 2; XLP2
OMIM:120435 Lynch Syndrome I
OMIM:247950 Lysine Malabsorption Syndrome
OMIM:159555 Lysine-Specific Methyltransferase 2A; KMT2A
OMIM:222700 Lysinuric Protein Intolerance; LPI
OMIM:278000 Lysosomal Acid Lipase Deficiency

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last database update
03/14/2017
MGI 6.08
The Jackson Laboratory