| OMIM ID |
Human Disease |
| 236792 |
L-2-Hydroxyglutaric Aciduria |
| 149600 |
Labia Minora, Incomplete Adhesion of |
| 149700 |
Lacrimal Duct Defect |
| 149730 |
Lacrimoauriculodentodigital Syndrome; LADD |
| 223000 |
Lactase Deficiency, Congenital |
| 614128 |
Lactate Dehydrogenase B Deficiency; LDHBD |
| 150170 |
Lactic Acidosis, Chronic Adult Form |
| 245450 |
Lactic Aciduria Due to D-Lactic Acid |
| 223100 |
Lactose Intolerance, Adult Type |
| 600775 |
Lambdoid Synostosis (1 mouse model) |
| 245550 |
Lambert Syndrome |
| 245552 |
Lambotte Syndrome |
| 245570 |
Landau-Kleffner Syndrome; LKS |
| 604856 |
Langerhans Cell Histiocytosis |
| 249700 |
Langer Mesomelic Dysplasia; LMD (1 mouse model) |
| 262500 |
Laron Syndrome (2 mouse models) |
| 608545 |
Larsen-Like Syndrome |
| 245650 |
Larsen-Like Syndrome, Lethal Type |
| 150250 |
Larsen Syndrome; LRS |
| 308850 |
Laryngeal Abductor Paralysis |
| 150260 |
Laryngeal Abductor Paralysis |
| 606183 |
Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy |
| 150270 |
Laryngeal Adductor Paralysis; LAP |
| 607132 |
Laryngeal Atresia, Encephalocele, and Limb Deformities |
| 150360 |
Laryngeal Web, Familial |
| 150280 |
Laryngomalacia |
| 245660 |
Laryngoonychocutaneous Syndrome; LOCS |
| 150300 |
Larynx, Congenital Partial Atresia of |
| 605670 |
Late-Onset Retinal Degeneration; LORD (1 mouse model) |
| 601086 |
Laterality Defects, Autosomal Dominant |
| 130720 |
Lateral Meningocele Syndrome |
| 608814 |
Lateral Semicircular Canal Malformation, Familial, with External and Middle Ear Abnormalities |
| 607330 |
Lathosterolosis (1 mouse model) |
| 150500 |
Lattice Degeneration of Retina Leading to Retinal Detachment |
| 245800 |
Laurence-Moon Syndrome |
| 135750 |
Laurin-Sandrow Syndrome |
| 150550 |
Lazy Leukocyte Syndrome |
| 611755 |
Leber Congenital Amaurosis 10; LCA10 |
| 613837 |
Leber Congenital Amaurosis 11; LCA11 |
| 610612 |
Leber Congenital Amaurosis 12; LCA12 |
| 612712 |
Leber Congenital Amaurosis 13; LCA13 |
| 613341 |
Leber Congenital Amaurosis 14; LCA14 |
| 613843 |
Leber Congenital Amaurosis 15; LCA15 |
| 614186 |
Leber Congenital Amaurosis 16; LCA16 |
| 204000 |
Leber Congenital Amaurosis 1; LCA1 (1 mouse model) |
| 204100 |
Leber Congenital Amaurosis 2; LCA2 (3 mouse models) |
| 604232 |
Leber Congenital Amaurosis 3; LCA3 |
| 604393 |
Leber Congenital Amaurosis 4; LCA4 (3 mouse models) |
| 604537 |
Leber Congenital Amaurosis 5; LCA5 (1 mouse model) |
| 613826 |
Leber Congenital Amaurosis 6; LCA6 (1 mouse model) |
| 613829 |
Leber Congenital Amaurosis 7; LCA7 (1 mouse model) |
| 613835 |
Leber Congenital Amaurosis 8; LCA8 (1 mouse model) |
| 608553 |
Leber Congenital Amaurosis 9; LCA9 |
| 535000 |
Leber Optic Atrophy (1 mouse model) |
| 500001 |
Leber Optic Atrophy and Dystonia |
| 308905 |
Leber Optic Atrophy, Susceptibility to |
| 245900 |
Lecithin:cholesterol Acyltransferase Deficiency (2 mouse models) |
| 601877 |
Left-Right Determination Factor 2; LEFTY2 |
| 604169 |
Left Ventricular Noncompaction 1; LVNC1 |
| 609470 |
Left Ventricular Noncompaction 2; LVNC2 |
| 615092 |
Left Ventricular Noncompaction 7; LVNC7 |
| 246000 |
Leg, Absence Deformity of, with Congenital Cataract |
| 150600 |
Legg-Calve-Perthes Disease; LCPD |
| 608556 |
Legionnaire Disease, Susceptibility to |
| 611431 |
Legius Syndrome (1 mouse model) |
| 150590 |
Leg Ulcers, Familial, of Juvenile Onset |
| 220111 |
Leigh Syndrome, French Canadian Type; LSFC |
| 256000 |
Leigh Syndrome; LS (5 mouse models) |
| 308930 |
Leigh Syndrome, X-Linked |
| 150700 |
Leiomyoma of Vulva and Esophagus |
| 308940 |
Leiomyomatosis, Diffuse, with Alport Syndrome; DL-ATS |
| 150699 |
Leiomyoma, Uterine; UL |
| 602068 |
Leishmaniasis, Tegumentary, Susceptibility to |
| 608290 |
Lelis Syndrome |
| 154045 |
Lens Intrinsic Membrane Protein 2, 19-Kd; LIM2 |
| 150900 |
Lentigines |
| 151000 |
Lentiginosis, Centrofacial Neurodysraphic |
| 151001 |
Lentiginosis, Inherited Patterned |
| 151050 |
Lenz-Majewski Hyperostotic Dwarfism |
| 151100 |
Leopard Syndrome 1 (1 mouse model) |
| 611554 |
Leopard Syndrome 2 |
| 613707 |
Leopard Syndrome 3 |
| 609888 |
Leprosy, Susceptibility to, 1; LPRS1 |
| 607572 |
Leprosy, Susceptibility to, 2; LPRS2 |
| 246300 |
Leprosy, Susceptibility to, 3; LPRS3 |
| 610988 |
Leprosy, Susceptibility to, 4; LPRS4 |
| 613223 |
Leprosy, Susceptibility to, 5; LPRS5 |
| 613407 |
Leprosy, Susceptibility to, 6; LPRS6 |
| 614962 |
Leptin Deficiency; LEPD |
| 614963 |
Leptin Receptor Deficiency |
| 151200 |
Leri Pleonosteosis |
| 127300 |
Leri-Weill Dyschondrosteosis; LWD (1 mouse model) |
| 308950 |
Lesch-Nyhan Phenotype with Normal HGPRT |
| 300322 |
Lesch-Nyhan Syndrome; LNS (1 mouse model) |
| 611890 |
Lethal Arthrogryposis with Anterior Horn Cell Disease; LAAHD |
| 253310 |
Lethal Congenital Contracture Syndrome 1; LCCS1 |
| 607598 |
Lethal Congenital Contracture Syndrome 2; LCCS2 |
| 611369 |
Lethal Congenital Contracture Syndrome 3; LCCS3 |
| 614915 |
Lethal Congenital Contracture Syndrome 4; LCCS4 |
| 601356 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
| 246400 |
Letterer-Siwe Disease |
| 613065 |
Leukemia, Acute Lymphoblastic; ALL (9 mouse models) |
| 613067 |
Leukemia, Acute Lymphoblastic, Susceptibility to, 2 |
| 151380 |
Leukemia, Acute Monocytic |
| 246470 |
Leukemia, Acute Myelocytic, with Polyposis Coli and Colon Cancer |
| 601626 |
Leukemia, Acute Myeloid; AML (11 mouse models) |
| 308960 |
Leukemia, Acute, ?X-Linked |
| 151400 |
Leukemia, Chronic Lymphocytic; CLL (13 mouse models) |
| 609630 |
Leukemia, Chronic Lymphocytic, Susceptibility to, 1 |
| 109543 |
Leukemia, Chronic Lymphocytic, Susceptibility to, 2 |
| 612557 |
Leukemia, Chronic Lymphocytic, Susceptibility to, 3 |
| 612558 |
Leukemia, Chronic Lymphocytic Susceptibility to, 4 |
| 612559 |
Leukemia, Chronic Lymphocytic Susceptibility to, 5 |
| 608232 |
Leukemia, Chronic Myeloid; CML (15 mouse models) |
| 612840 |
Leukocyte Adhesion Deficiency, Type III; LAD3 |
| 116920 |
Leukocyte Adhesion Deficiency, Type I; LAD (3 mouse models) |
| 151500 |
Leukocyte Nuclear Appendages, Hereditary Prevalence of |
| 169500 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant; ADLD |
| 608804 |
Leukodystrophy, Hypomyelinating, 2; HLD2 (1 mouse model) |
| 260600 |
Leukodystrophy, Hypomyelinating, 3; HLD3 |
| 612233 |
Leukodystrophy, Hypomyelinating, 4; HLD4 |
| 610532 |
Leukodystrophy, Hypomyelinating, 5; HLD5 |
| 612438 |
Leukodystrophy, Hypomyelinating, 6; HLD6 |
| 607694 |
Leukodystrophy, Hypomyelinating, 7, with or without Oligodontia and/or Hypogonadotropic Hypogonadism; HLD7 |
| 614381 |
Leukodystrophy, Hypomyelinating, 8, with or without Oligodontia and/or Hypogonadotropic Hypogonadism; HLD8 |
| 608809 |
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema; |
| 614561 |
Leukoencephalopathy, Brain Calcifications, and Cysts; LCC |
| 612951 |
Leukoencephalopathy, Cystic, without Megalencephaly |
| 221820 |
Leukoencephalopathy, Diffuse Hereditary, with Spheroids; HDLS |
| 611105 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation; LBSL |
| 613724 |
Leukoencephalopathy with Dystonia and Motor Neuropathy |
| 300660 |
Leukoencephalopathy with Metaphyseal Chondrodysplasia; LKMCD |
| 603896 |
Leukoencephalopathy with Vanishing White Matter; VWM |
| 246500 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
| 602994 |
Leukoregulin |
| 614037 |
Leukotriene C4 Synthase Deficiency |
| 151610 |
Levator-Medial Rectus Synkinesis |
| 238320 |
Leydig Cell Hypoplasia, Type I |
| 151620 |
Lichen Planus, Familial |
| 151590 |
Lichen Sclerosus Et Atrophicus; LSA |
| 246550 |
Lichtenstein Syndrome |
| 177200 |
Liddle Syndrome (1 mouse model) |
| 186550 |
Liebenberg Syndrome; LBNBG |
| 151623 |
Li-Fraumeni Syndrome 1; LFS1 (8 mouse models) |
| 609265 |
Li-Fraumeni Syndrome 2; LFS2 |
| 609266 |
Li-Fraumeni Syndrome 3; LFS3 |
| 606593 |
LIG4 Syndrome (2 mouse models) |
| 603530 |
Light Fixation Seizure Syndrome |
| 246555 |
Limb Defects, Distal Transverse, with Mental Retardation and Spasticity |
| 609115 |
Limb-Girdle Muscular Dystrophy, Type 1G; LGMD1G |
| 603543 |
Limb-Mammary Syndrome; LMS |
| 246650 |
Lipase Deficiency, Combined |
| 614103 |
Lipedema |
| 151640 |
Lip, Hamartomatous |
| 151630 |
Lip, Median Nodule of Upper |
| 608594 |
Lipodystrophy, Congenital Generalized, Type 1; CGL1 (1 mouse model) |
| 269700 |
Lipodystrophy, Congenital Generalized, Type 2; CGL2 (4 mouse models) |
| 612526 |
Lipodystrophy, Congenital Generalized, Type 3; CGL3 |
| 613327 |
Lipodystrophy, Congenital Generalized, Type 4; CGL4 (1 mouse model) |
| 608600 |
Lipodystrophy, Familial Partial, Type 1; FPLD1 |
| 151660 |
Lipodystrophy, Familial Partial, Type 2; FPLD2 (3 mouse models) |
| 604367 |
Lipodystrophy, Familial Partial, Type 3; FPLD3 (3 mouse models) |
| 613877 |
Lipodystrophy, Familial Partial, Type 4; FPLD4 |
| 608154 |
Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones |
| 608709 |
Lipodystrophy, Partial, Acquired, Susceptibility To; APLD |
| 613913 |
Lipodystrophy, Partial, Acquired, with Low Complement Component C3, with or without Glomerulonephritis; APLDC3 |
| 606721 |
Lipodystrophy with Congenital Cataracts and Neurodegeneration |
| 201710 |
Lipoid Congenital Adrenal Hyperplasia; LCAH (1 mouse model) |
| 247100 |
Lipoid Proteinosis of Urbach and Wiethe |
| 151700 |
Lipoma of the Conjunctiva |
| 151900 |
Lipomatosis, Multiple |
| 151800 |
Lipomatosis, Multiple Symmetric; MSL |
| 609537 |
Lipomyelomeningocele |
| 611771 |
Lipoprotein Glomerulopathy; LPG |
| 609708 |
Lipoprotein Lipase; LPL |
| 152100 |
Lipoprotein Types--Ld System |
| 152300 |
Lipoprotein Types--Lt System |
| 152400 |
Lipoprotein, Variant of Beta |
| 247150 |
Lip Prints |
| 607432 |
Lissencephaly 1; LIS1 (7 mouse models) |
| 257320 |
Lissencephaly 2; LIS2 |
| 611603 |
Lissencephaly 3; LIS3 |
| 614019 |
Lissencephaly 4; LIS4 |
| 604382 |
Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia |
| 601160 |
Lissencephaly Type III and Bone Dysplasia |
| 300067 |
Lissencephaly, X-Linked, 1; LISX1 |
| 300215 |
Lissencephaly, X-Linked, 2; LISX2 (1 mouse model) |
| 152420 |
Lithium Transport |
| 613070 |
Liver Failure, Infantile, Transient; LFIT |
| 605944 |
Liver Fibrocystic Disease and Polydactyly |
| 609192 |
Loeys-Dietz Syndrome, Type 1A; LDS1A (2 mouse models) |
| 610168 |
Loeys-Dietz Syndrome, Type 1B; LDS1B |
| 608967 |
Loeys-Dietz Syndrome, Type 2A; LDS2A |
| 610380 |
Loeys-Dietz Syndrome, Type 2B; LDS2B |
| 613795 |
Loeys-Dietz Syndrome, Type 3; LDS3 |
| 614816 |
Loeys-Dietz Syndrome, Type 4; LDS4 |
| 609016 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
| 603376 |
Long Chain Fatty Acids, Defect in Transport of |
| 611819 |
Long Qt Syndrome 10; LQT10 |
| 611820 |
Long Qt Syndrome 11; LQT11 |
| 612955 |
Long Qt Syndrome 12; LQT12 |
| 613485 |
Long Qt Syndrome 13; LQT13 |
| 192500 |
Long QT Syndrome 1; LQT1 (1 mouse model) |
| 613688 |
Long Qt Syndrome 2; LQT2 |
| 603830 |
Long QT Syndrome 3; LQT3 (2 mouse models) |
| 613695 |
Long Qt Syndrome 5; LQT5 |
| 613693 |
Long Qt Syndrome 6; LQT6 |
| 611818 |
Long Qt Syndrome 9; LQT9 |
| 112430 |
Long-Thumb Brachydactyly Syndrome |
| 600628 |
Loose Anagen Hair Syndrome (1 mouse model) |
| 613589 |
Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6; LDLCQ6 |
| 605028 |
Low Density Lipoprotein Cholesterol, Mild Elevation of |
| 152450 |
Low Density Lipoprotein, Variation in Molecular Weight of |
| 309000 |
Lowe Oculocerebrorenal Syndrome; OCRL (2 mouse models) |
| 600252 |
Lowry-Maclean Syndrome |
| 300260 |
Lubs X-Linked Mental Retardation Syndrome; MRXSL (3 mouse models) |
| 309520 |
Lujan-Fryns Syndrome |
| 152550 |
Lumbar Stenosis, Familial |
| 265430 |
Lung Agenesis |
| 601612 |
Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome; |
| 211980 |
Lung Cancer (16 mouse models) |
| 608935 |
Lung Cancer Susceptibility 1; LNCR1 |
| 612571 |
Lung Cancer Susceptibility 3; LNCR3 |
| 612593 |
Lung Cancer Susceptibility 4; LNCR4 |
| 614210 |
Lung Cancer Susceptibility 5; LNCR5 |
| 152600 |
Lunulae of Fingernails |
| 152780 |
Luteinizing Hormone, Beta Polypeptide; LHB |
| 309050 |
Lutheran Suppressor, X-Linked; XS |
| 152800 |
Lymphangiectasia, Intestinal |
| 265300 |
Lymphangiectasia, Pulmonary, Congenital; CPL (1 mouse model) |
| 606690 |
Lymphangioleiomyomatosis; LAM |
| 152900 |
Lymphedema and Cerebral Arteriovenous Anomaly |
| 601927 |
Lymphedema, Cardiac Septal Defects, and Characteristic Facies |
| 247440 |
Lymphedema, Congenital Recessive |
| 153400 |
Lymphedema-Distichiasis Syndrome (1 mouse model) |
| 153100 |
Lymphedema, Hereditary, IA (1 mouse model) |
| 611944 |
Lymphedema, Hereditary, IB |
| 613480 |
Lymphedema, Hereditary, IC |
| 153200 |
Lymphedema, Hereditary, II |
| 247410 |
Lymphedema-Hypoparathyroidism Syndrome |
| 614038 |
Lymphedema, Primary, with Myelodysplasia |
| 247640 |
Lymphoblastic Leukemia, Acute, with Lymphomatous Features; LALL |
| 247430 |
Lymphoblastic Transformation, Inhibition of |
| 247450 |
Lymphoblastic Transformation, Intrinsic Defect in |
| 153245 |
Lymphoid Enhancer-Binding Factor 1; LEF1 |
| 247610 |
Lymphoid Interstitial Pneumonia; LIP |
| 247630 |
Lymphoid System Deterioration, Progressive |
| 247650 |
Lymphokine Deficiency |
| 236000 |
Lymphoma, Hodgkin |
| 605027 |
Lymphoma, Non-Hodgkin, Familial (1 mouse model) |
| 247800 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis |
| 613011 |
Lymphoproliferative Syndrome 1; LPFS1 |
| 615122 |
Lymphoproliferative Syndrome 2; LPFS2 |
| 308240 |
Lymphoproliferative Syndrome, X-Linked, 1; XLP1 (5 mouse models) |
| 300635 |
Lymphoproliferative Syndrome, X-Linked, 2; XLP2 |
| 120435 |
Lynch Syndrome I (5 mouse models) |
| 247950 |
Lysine Malabsorption Syndrome |
| 222700 |
Lysinuric Protein Intolerance; LPI |
| 278000 |
Lysosomal Acid Lipase Deficiency (1 mouse model) |