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L-2-Hydroxyglutaric AciduriaAn 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).Labia Majora CarcinomaA vulva carcinoma that is in the labia majora.Labia Minora CancerA vulva cancer that is in the labium minora.Labia Minora CarcinomaA vulva carcinoma that is in the labia minora.Labium Majus CancerA vulva cancer that is in the labium majus.LabyrinthitisInner ear inflammation causing vertigo.Lacrimal Apparatus DiseaseAn eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye.Lacrimal Gland AdenocarcinomaA lacrimal gland carcinoma that arises from epithelial cells of glandular origin.Lacrimal Gland Mucoepidermoid CarcinomaA mucoepidermoid carcinoma in the lacrimal gland.Lacrimal Gland Squamous Cell CarcinomaA squamous cell carcinoma that is in the lacrimal gland.Lacrimoauriculodentodigital Syndrome 1A syndrome that is caused by 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 aLacrimoauriculodentodigital Syndrome 2A LADD syndrome that is caused by heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, aLacrimoauriculodentodigital Syndrome 3A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that is caused by heterozygous mutation inLa Crosse EncephalitisA viral infectious disease that causes inflammation in brain, is caused by La Crosse virus (Orthobunyavirus lacrosseense), which is primarily transmitted by treehole mosquito (Ochlerotatus triseriatus) but also Asian tigLactic AcidosisA metabolic acidosis characterized by buildup of lactate.LactoceleA breast cyst that develops during or shortly after lactation and is characterized by retention of milk or a milky substance that is usually in the mammary glands.Lactose IntoleranceTrouble digesting the sugar in milk. Tracking your symptoms and connecting with others who understand can help you manage day to day.LADD SyndromeA syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers.Lafora DiseaseA progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that is caused by homozygous oLafora Disease 1A Lafora disease that is caused by homozygous or compound heterozygous mutation in the EPM2A gene on chromosome 6q24.Lafora Disease 2A Lafora disease that is caused by homozygous or compound heterozygous mutation in the NHLRC1 gene, which encodes malin, on chromosome 6p22.Lambda 5 DeficiencyA B cell deficiency that is caused by mutations in the IGLL1 gene. Lambda 5 mutations can cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage.Lambert-Eaton Myasthenic SyndromeA 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)Landau-Kleffner SyndromeA rare epilepsy syndrome affecting language.Langerhans-Cell HistiocytosisA histiocytosis that is characterized by clonal proliferation of Langerhans cells.Langerhans Cell SarcomaA histiocytic and dendritic cell cancer that derives from the lymph nodes, derives from the skin, derives from the liver, derives from the spleen and derives from bones.Language DisorderA communication disorder that involves the processing of linguistic information.Large B-Cell LymphomaA B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters.Large Bowel LeiomyomaAn intestinal benign neoplasm that arises from smooth muscle cells and that is in the large bowel.Large Cell CarcinomaA carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm.Large Cell Keratinizing Variant Squamous Cell Breast CarcinomaA breast squamous cell carcinoma characterized by large epithelial cells that contain keratin.Large Cell MedulloblastomaA medulloblastoma that is characterized by cells that are larger than would be normally expected.Large Cell Neuroendocrine CarcinomaA lung large cell carcinoma that arises from neuroendocrine cells.Large Congenital Melanocytic NevusA skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that is caused by somatic mutation in the NRAS gene on chromosome 11Large Intestine AdenocarcinomaA large intestine cancer that is caused by epithelial cells of glandular origin.Large Intestine AdenomaAn intestinal benign neoplasm that is caused by epithelial tissue with glandular origin and is in the large intestine.Large Intestine CancerAn intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other.Large Intestine LipomaAn intestinal benign neoplasm that arises from fat cells and that is in the large intestine.Laron SyndromeA syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that is caused by homozygous or compound heterozygous mutation in GHR on chromosLarsen-Like Syndrome B3GAT3 TypeA syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorLarsen SyndromeA syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities.Laryngeal CancerCancer of the voice box.Laryngeal CarcinomaA larynx cancer that is caused by epithelial cells.Laryngeal Mucoepidermoid CarcinomaA mucoepidermoid carcinoma in the larynx.Laryngeal Squamous Cell CarcinomaA laryngeal carcinoma that is caused by squamous cells.Laryngeal TuberculosisA pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia.LaryngitisInflammation of the voice box causing hoarseness.LaryngomalaciaA laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her bLaryngotracheitisAn upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe.Larynx CancerA respiratory system cancer that is in the larynx.Larynx Carcinoma in SituAn in situ carcinoma that is in the larynx.Larynx LeiomyomaA laryngeal benign neoplasm that arises from smooth muscle cells.Larynx LeiomyosarcomaA leiomyosarcoma in the larynx.Larynx LiposarcomaA liposarcoma that is in the larynx.Larynx SarcomaA larynx cancer that is caused by abnormally proliferating cells arises from embryonic mesoderm.Larynx Squamous PapillomaA laryngeal benign neoplasm that is characterized by the presence of a connective tissue core covered by stratified squamous epithelium and that causes hoarseness.Lassa FeverA viral infectious disease that causes infection, is caused by Lassa virus (Mammarenavirus lassaense), which is transmitted by multimammate rat of the genus Mastomys. The infection causes fever, causes retrosternal pain,Late-Adult Onset Retinitis PigmentosaA retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life.Late Congenital SyphilisA congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection causes gummatous ulcers, causes periosteal lesions, causes paresis, causes tabLatent Autoimmune Diabetes in AdultsA type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantiboLatent SyphilisA syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease.Late Onset Parkinson'S DiseaseA Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age.Late-Onset Retinal DegenerationA retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinaLateral CystoceleA prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the anterolateral vaginal walls.Lateral Medullary SyndromeA brain stem infarction that is characterized by hoarseness, dizziness, nausea, in the lateral part of the medulla oblongata that develops from a blockage in the posterior inferior cerebellar artery or one of its brancheLateral Meningocele SyndromeA syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that is caused by heterozygous mutation in the NOTCH3 gene on chromosome 19p13.12.Lateral SclerosisA motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs.Latex AllergyAn allergic disease that is triggered by latex.Late YawsA yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis.Lattice Corneal DystrophyAn epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and lattice line refractile and fleck-like opacification in the cornea, amyloid deposits beginning in the anterior stroma, and progressiveLaurence-Moon SyndromeA syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that is caused by homozygous or compound heterozygous mutation in the PNPLA6 genLaurin-Sandrow SyndromeA dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that is caused by heterozygous inheritance of small (lLearning DisabilityA specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and pLeber Congenital AmaurosisA retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.Leber Congenital Amaurosis 1A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that is caused by mutation in the GUCY2D gene on chromosLeber Congenital Amaurosis 10A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and is caused by mutation in the CEP290 gene on chromosome 12q21.32.Leber Congenital Amaurosis 11A Leber congenital amaurosis that is caused by mutation n the IMPDH1 gene on chromosome 7q31.3-q32.Leber Congenital Amaurosis 12A Leber congenital amaurosis that is caused by mutation in the RD3 gene on chromosome 1q32.Leber Congenital Amaurosis 13A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and is caused by mutation in the RDH12 gLeber Congenital Amaurosis 14A Leber congenital amaurosis that is caused by mutation in the LRAT gene on chromosome 4q31.Leber Congenital Amaurosis 15A Leber congenital amaurosis that is caused by mutation in the TULP1 gene on chromosome 6p21.3.Leber Congenital Amaurosis 16A Leber congenital amaurosis that is caused by mutation in the KCNJ13 gene on chromosome 2q37.Leber Congenital Amaurosis 17A Leber congenital amaurosis that is caused by mutation in the GDF6 gene on chromosome 8q22.Leber Congenital Amaurosis 19A Leber congenital amaurosis that is caused by mutation in the USP45 gene on chromosome 6q16.Leber Congenital Amaurosis 2A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and is caused by mutation in the RPE65 gene on chromosome 1.Leber Congenital Amaurosis 3A Leber congenital amaurosis that is caused by mutation in the SPATA7 gene on chromosome 14q31.Leber Congenital Amaurosis 4A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that is causLeber Congenital Amaurosis 5A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and is caused by mutation in the LCA5 gene on chromosome 6q14.1Leber Congenital Amaurosis 6A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and is caused by mutation in the RPGRIP1 gene on chrLeber Congenital Amaurosis 7A Leber congenital amaurosis that is caused by mutation in the CRX gene on chromosome 19q13.Leber Congenital Amaurosis 8A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and is caused by mutation in the CRB1 gene on chromosome 1q31-q32.Leber Congenital Amaurosis 9A Leber congenital amaurosis that is caused by mutation in the NMNAT1 gene on chromosome 1p36.Leber Congenital Amaurosis with Early-Onset DeafnessA sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that is caused by heterozygous mutation in the TUBB4B gene on chromosome 9q34.3.Leber Hereditary Optic NeuropathyA mitochondrial disorder causing vision loss.Leber Hereditary Optic Neuropathy and DystoniaA Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that is caused by mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I.Leber Hereditary Optic Neuropathy with Demyelinating Disease of CNSA Leber plus disease characterized by Leber hereditary optic neuropathy and demyelination in the central nervous system.Leber Plus DiseaseA syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities.Leech InfestationA parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point tLeft Ventricular FailureA congestive heart failure that is characterized by dysfunction of the left ventricle, resulting insufficient delivery of blood to vital organs.Left Ventricular NoncompactionAn intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium.Legg-Calve-Perthes DiseaseAn osteochondrosis that causes death and fracture in hip joint.LegionellosisA primary bacterial infectious disease that causes infection in respiratory tract, is caused by Legionella pneumophila, which is transmitted by inhalation of droplets containing bacteria. The symptoms include dry cough,Legionnaires' DiseaseA severe form of pneumonia from contaminated water.Legius SyndromeA RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that is caused by heterozygous mutation in the SPRED1 gene on chromosomeLegume AllergyA fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product.Leigh DiseaseA cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irriLeigh SyndromeA rare inherited neurometabolic disorder.LeiomyomaA cell type benign neoplasm that is a benign tumor of smooth muscle cells.LeiomyomatosisA leiomyoma that is multiple and diffuse.LeiomyosarcomaA smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.LeishmaniasisA parasitic infection spread by sandflies.Lemierre'S SyndromeA commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severLennox-Gastaut SyndromeA severe epilepsy syndrome with multiple seizure types.Lens DiseaseAn eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye.Lenz-Majewski Hyperostotic DwarfismA syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that is caused by heterozygous mutation in the PTDSS1 gene on chromosomeLepromatous LeprosyA leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremitiLeprosyA chronic bacterial infection affecting skin and nerves.LeptospirosisA primary bacterial infectious disease that involves systemic infection, is caused by Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has syLeri-Weill DyschondrosteosisAn 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 is caused by heterozygoLesch-Nyhan SyndromeA purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that is caused by mutation inLethal Congenital Contracture SyndromeA 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 limitationsLethal Congenital Contracture Syndrome 1A lethal congenital contracture syndrome that is caused by homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34.Lethal Congenital Contracture Syndrome 10A lethal congenital contracture syndrome characterized by fetal akinesia, multiple contractures, shortening of upper and lower limbs, and narrow chest and thorax that is caused by homozygous mutation in the NEK9 gene onLethal Congenital Contracture Syndrome 11A lethal congenital contracture syndrome characterized by multiple flexion and extension joint contractures resulting from reduced or absent fetal movements that is caused by homozygous or compound heterozygous mutationLethal Congenital Contracture Syndrome 12A lethal congenital contracture syndrome characterized by onset in utero that results in death in utero or during the perinatal period unless there is significant medical intervention, including mechanical ventilation anLethal Congenital Contracture Syndrome 2A lethal congenital contracture syndrome that can be that is caused by homozygous mutation in the ERBB3 gene on chromosome 12q13.Lethal Congenital Contracture Syndrome 3A lethal congenital contracture syndrome that is caused by homozygous mutation in the PIP5K1C gene on chromosome 19p13.Lethal Congenital Contracture Syndrome 4A lethal congenital contracture syndrome that is caused by homozygous mutation in the MYBPC1 gene on chromosome 12q23.Lethal Congenital Contracture Syndrome 5A lethal congenital contracture syndrome characterized by decreased fetal movements, joint contractures, hypotonia, skeletal abnormalities with thin bones, and brain and retinal hemorrhages that is caused by homozygous mLethal Congenital Contracture Syndrome 6A lethal congenital contracture syndrome characterized by multiple flexion and extension contractures resulting from lack of fetal movements, severe polyhydramnios, and absent stomach that is caused by homozygous mutatioLethal Congenital Contracture Syndrome 7A lethal congenital contracture syndrome characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period that is caLethal Congenital Contracture Syndrome 8A lethal congenital contracture syndrome characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period that is caused by homozygoLethal Congenital Contracture Syndrome 9A lethal congenital contracture syndrome characterized by multiple flexion and extension contractures resulting from reduced or absent fetal movement that is caused by homozygous mutation in the GPR126 gene on chromosomeLethal Congenital Glycogen Storage Disease of HeartA glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and is caused by autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gaLeucine-Sensitive Hypoglycemia of InfancyAn amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that is caused by heterozygous mutation in the SUR1 gene on chromosome 11p15.1.LeukemiaCancer of the blood and bone marrow. Tracking your symptoms and connecting with others who understand can help you manage day to day.Leukocyte Adhesion DeficiencyA combined T cell and B cell immunodeficiency that is characterized by defects affecting how white blood cells respond and travel to the site of a wound or infection affecting the immune system.Leukocyte Adhesion Deficiency 1A leukocyte adhesion deficiency that is caused by mutation of the ITGB2 gene on chromosome 21q22.3.Leukocyte Adhesion Deficiency 2A leukocyte adhesion deficiency that is characterized by the absence of Sialyl Lewis X of E-selectin resulting in recurrent bacterial infections, severe growth delay and severe intellectual deficit.Leukocyte Adhesion Deficiency 3A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and is caused by mutation in FERMT3 gene on chromosome 11q12.Leukocyte DiseaseA hematopoietic system disease that is in white blood cells.LeukodystrophyA cerebral degeneration characterized by dysfunction of the white matter of the brain.Leukoencephalopathy with Vanishing White MatterA leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matterLeukoencephalopathy with Vanishing White Matter 1A leukoencephalopathy with vanishing white matter that is caused by homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24.Leukoencephalopathy with Vanishing White Matter 2A leukoencephalopathy with vanishing white matter that is caused by homozygous or compound heterozygous mutation in the EIF2B2 gene on chromosome 14q24.Leukoencephalopathy with Vanishing White Matter 3A leukoencephalopathy with vanishing white matter that is caused by homozygous or compound heterozygous mutation in the EIF2B3 gene on chromosome 1p34.Leukoencephalopathy with Vanishing White Matter 4A leukoencephalopathy with vanishing white matter that is caused by compound heterozygous mutation in the EIF2B4 gene on chromosome 2p23.Leukoencephalopathy with Vanishing White Matter 5A leukoencephalopathy with vanishing white matter that is caused by homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27.Leukoencephalopathy with Variable Cortical Brain Malformations and/or HydrocephalusA lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that is cauLeukopeniaA leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection.Leukoplakia of VaginaA vaginal disease that is a precancerous lesion that is characterized by the presence of white plaques which cannot be rubbed off. Histology shows increased keratin.LeukorrheaA vaginal discharge that is characterized by a whitish or yellow color.Lewy Body DementiaA type of dementia involving abnormal protein deposits in the brain.Leydig Cell HypoplasiaA pseudohermaphroditism that is caused by homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3.Leydig Cell Hypoplasia Type IA Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secoLeydig Cell Hypoplasia Type IIA Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that is caused by homozygous or compound heterozygous partial inactivation mutation in the LHCGRLeydig Cell TumorA sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells in ovary or testicle.Libman-Sacks EndocarditisA nonbacterial thrombotic endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease.Lice InfestationTiny insects that live on the scalp and hair.Lichen PlanusAn inflammatory condition causing itchy, flat-topped bumps.Liddle SyndromeA renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel.Lidocaine AllergyA drug allergy that triggered by lidocaine.Li-Fraumeni SyndromeAn inherited condition that raises cancer risk.Li-Fraumeni Syndrome 1A Li-Fraumeni syndrome that is caused by heterozygous mutation in the TP53 gene on chromosome 17p13.1.Li-Fraumeni Syndrome 2A Li-Fraumeni syndrome that is caused by heterozygous mutation in the CHEK2 gene on chromosome 22q12.1.Limb-Girdle Muscular DystrophyA muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.Limbic EncephalitisAn encephalitis that is characterized by subacute onset of short-term memory deficits, seizures or psychiatric symptoms in the medial temporal lobes.Limb IschemiaAn ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply.Linear Nevus Sebaceous SyndromeA syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that is caused by somatic mosaLinear Skin Defects with Multiple Congenital Anomalies 1A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that is caused by heterozygous or hemizygous mutaLip Carcinoma in SituAn oral cavity carcinoma in situ that is in the lip.Lip DiseaseA mouth disease in the lip.Lipid Metabolism DisorderAn inherited metabolic disorder that involves the creation and degradation of lipids.Lipid PneumoniaAn aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal dropsLipid-Rich CarcinomaA breast carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids.Lipid Storage DiseaseA lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.LipoadenomaAn adenoma that is composed of epithelial cells admixed with adipose tissue cells.Lipoatrophic Diabetes MellitusA type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy.LipodystrophyA connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue.LipofibromatosisA connective tissue benign neoplasm that is characterized by mature adipose tissue and bundles of cuboidal to spindled fibroblast-like cells. It occurs mainly in children, more often in males, preferentially involves theLipofibromatosis-Like Neural TumorA connective tissue cancer that is caused by LMNA-NTRK1 gene fusion.LipomaA cell type benign neoplasm that is composed of lipocytes.Lipoma of Spermatic CordA paratesticular lipoma that is in the spermatic cord and arises from fat cells.LiposarcomaA connective tissue cancer that arises in fat cells in deep soft tissue retroperitoneum and the extremities.Liposarcoma of the OvaryAn ovary sarcoma that arises from fatty tissue.Lisch Epithelial Corneal DystrophyAn epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns and that is caused by the MCOLN1 gene on CLissencephalyA 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.Lissencephaly 1A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that is caused by heterozygous mutation in the PAFAH1B1 gene on chromosome 17p13.3.Lissencephaly 10A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that is causedLissencephaly 3A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that is caused by heterozygous mutation in the TUBA1A gene on chromosome 12q13.12.Lissencephaly 4A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that is caused by homozygous or compound heterozygous mutation in the NDE1 gene on chrLissencephaly 6A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that is caused by homozygous or compound heterozygous mutation in the KATNBLissencephaly 7 with Cerebellar HypoplasiaA lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that is caused by homozygous or compound heterozygoLissencephaly 8A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that is caused by homozygous or compound heterozygous mLissencephaly 9 with Complex Brainstem MalformationA lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that is caused by heterozygous mutatListeriaA bacterial infection that's especially dangerous in pregnancy.Listeria MeningitisA bacterial meningitis that is caused by Listeria monocytogenes infection.ListeriosisA primary bacterial infectious disease that causes infection, is caused by Listeria monocytogenes, which is transmitted by ingestion of contaminated food or raw milk or transmitted by congenital method. Ingestion of ListLittre Gland CarcinomaA male reproductive organ cancer that is caused by abnormally proliferating cells arises from epithelial cells and is in the Littre glands.Livedoid VasculitisA vasculitis with purpuric ulcers.Liver AngiosarcomaAn angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is in the liver.Liver CancerCancer that starts in the liver. Tracking your symptoms and connecting with others who understand can help you manage day to day.Liver CarcinomaA liver cancer that is caused by epithelial cells.Liver Carcinoma in SituAn in situ carcinoma that is in the liver.Liver FibrosarcomaA fibrosarcoma of soft tissue and sarcoma of liver that is in the liver.Liver Glycogen Storage DiseaseA glycogen storage disease that is caused by homozygous or compound heterozygous mutation in the GYS2 gene which encodes glycogen synthase-2, on chromosome 12p12.Liver LeiomyosarcomaA leiomyosarcoma and sarcoma of liver that is in the liver.Liver LipomaA lipoma located in the liver.Liver RhabdomyosarcomaA rhabdomyosarcoma and sarcoma of liver that are in the liver.Liver SarcomaA sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is in the liver.LobodontiaA tooth disease characterized by supernumerary cusps and a single pyramid-shaped molar root that is caused by heterozygous mutation in the ASCL5 gene on chromosome 1q32. Canines and premolars may show a tritubercular strLobomycosisA dermatomycosis that results in infection located in skin or located in subcutaneous tissue, is caused by Lacazia loboi and has symptom crusty plaques, has symptom tumors and results in formation of nodular lesions.Lobular NeoplasiaA breast carcinoma in situ that is characterized by abnormal cells are found in the lobules (glands that make milk) of the breast.Localized OsteosarcomaAn osteosarcoma that is confined to a specific site without evidence of spread to other anatomic sites.Localized Pulmonary FibrosisA pulmonary fibrosis that is characterized by localized destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombingLocked-in SyndromeA nervous system disease that is characterized by complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes.Lodder-Merla Syndrome Type 1 with Impaired Intellectual Development and Cardiac ArrhythmiaA syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that is caused by homozygous or compounLoeffler EndocarditisA restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils.Loeffler SyndromeAn eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction.Loeys-Dietz SyndromeA connective tissue disorder affecting blood vessels.Loeys-Dietz Syndrome 1A Loeys-Dietz syndrome that is caused by heterozygous mutation in the TGFBR1 gene on chromosome 9q22.Loeys-Dietz Syndrome 2A Loeys-Dietz syndrome that is caused by heterozygous mutation in the TGFBR2 gene on chromosome 3p24.Loeys-Dietz Syndrome 3A Loeys-Dietz syndrome that is caused by heterozygous mutation in the SMAD3 gene on chromosome 15q.Loeys-Dietz Syndrome 4A Loeys-Dietz syndrome that is caused by heterozygous mutation in the TGFB2 gene on chromosome 1q41.Loeys-Dietz Syndrome 5A Loeys-Dietz syndrome that is caused by heterozygous mutation in the TGFB3 gene on chromosome 14q24.Loeys-Dietz Syndrome 6A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that is caused by heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21.Logopenic Progressive AphasiaA primary progressive aphasia that is characterized by language disturbance, including difficulty making or understanding speech. It is a type of primary progressive aphasia. Affected individuals have slow, hesitant speeLoiasisA filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema inLong Bone AdamantinomaAn adamantinoma that is in the long bones and causes focal epithelial differentiation.Long Bones of Lower Limb CancerA bone cancer that is manifested in the long bones of the lower limb.Long Chain 3-Hydroxyacyl-CoA Dehydrogenase DeficiencyA lipid metabolism disorder characterized by early-onset cardiomyopathy, hypoglycemia, neuropathy, and pigmentary retinopathy, and sudden death that is caused by homozygous or compound heterozygous mutations in the geneLong COVIDSymptoms that continue for months after a COVID-19 infection. Tracking your symptoms and connecting with others who understand can help you manage day to day.Long QT SyndromeA heart rhythm condition that can cause sudden fainting.Long QT Syndrome 1A long QT syndrome that is caused by dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4.Long QT Syndrome 10A long QT syndrome that is caused by dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3.Long QT Syndrome 11A long QT syndrome that is caused by dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2.Long QT Syndrome 12A long QT syndrome that is caused by dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21.Long QT Syndrome 13A long QT syndrome that is caused by dominant inheritance of mutation in the KCNJ5 gene on chromosome 11q24.3.Long QT Syndrome 14A long QT syndrome that is caused by dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11.Long QT Syndrome 15A long QT syndrome that is caused by dominant inheritance of mutation in the CALM2 gene on chromosome 2p21.Long QT Syndrome 16A long QT syndrome characterized by perinatal onset of markedly prolonged corrected QT (QTc) interval, 2:1 atrioventricular (AV) block, and bradycardia or ventricular tachycardia (torsades de pointes) that is caused by hLong QT Syndrome 2A long QT syndrome that is caused by dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1.Long QT Syndrome 3A long QT syndrome that is caused by dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2.Long QT Syndrome 4A long QT syndrome that is caused by heterozygous mutation in the ANK2 gene on chromosome 4q25-q26.Long QT Syndrome 5A long QT syndrome that is caused by dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12.Long QT Syndrome 6A long QT interval syndrome that is caused by dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11.Long QT Syndrome 8A long QT syndrome characterized by a prolonged QT interval and polymorphic ventricular tachycardia (torsades de pointes) that is caused by heterozygous mutation in the CACNA1C gene on chromosome 12p13.33.Long QT Syndrome 9A long QT syndrome that is caused by mutation of the CAV3 gene on chromosome 3p25.3.Loose Anagen Hair SyndromeAn alopecia characterized by anagen phase (actively growing) hair that is easily pulled from the scalp typically presenting in childhood in fair haired individuals and improving with age.Louping IllA viral infectious disease that results in infection in sheep and rarely humans, is caused by Louping ill virus (Orthoflavivirus loupingi), which is transmitted by sheep tick, Ixodes ricinus. The infection has symptom leLouse-Borne Relapsing FeverA relapsing fever that is characterized by relapsing or recurring episodes of fever, is caused by Borrelia recurrentis, which is transmitted by body louse (Pediculus humanus). The infection causes tachypnea, causes tachyLow Back PainPersistent pain in the lower back that limits daily life. Tracking your symptoms and connecting with others who understand can help you manage day to day.Lower Respiratory Tract DiseaseA respiratory system disease which involves the lower respiratory tract.Lower Urinary Tract CalculusA urinary system disease that is in the lower urinary tract and is characterized by the formation of a stone.Low Grade GliomaA cell type benign neoplasm that is caused by glial cells (astrocytes, oligodendrocytes or ependymocytes).Low Molecular Weight Proteinuria with Hypercalciuric NephrocalcinosisA Dent disease characterized by elevated levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that is caused by hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11Lown-Ganong-Levine SyndromeA syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles.Low Tension GlaucomaAn open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the avLujo Hemorrhagic FeverA viral infectious disease that causes infection, is caused by Lujo virus (Mammarenavirus lujoense), which causes fever, causes headache, causes myalgia, causes thrombocytopenia, and causes bleeding. Bleeding is minor anLumbar SpondylosisAge-related wear and tear of the lower spine.Luminal Breast Carcinoma aA 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 hepatocytLuminal Breast Carcinoma BA breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1.Lung AbscessA 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.Lung AdenocarcinomaA lung non-small cell carcinoma that arises from epithelial cells of glandular origin.Lung AdenomaA lung benign neoplasm that arises from glandular epithelial cells.Lung CancerCancer that starts in the lungs. Tracking your symptoms and connecting with others who understand can help you manage day to day.Lung CarcinomaA lung cancer that is caused by abnormally proliferating cells arises from epithelial cells and is in the lungs and causes cough and causes chest discomfort or pain and causes weight loss and causes hemoptysis.Lung Carcinoma in SituAn in situ carcinoma that is in the lung.Lung Combined Type Small Cell AdenocarcinomaA lung combined type small cell carcinoma that is caused by epithelial tissue of glandular origin.Lung Combined Type Small Cell CarcinomaA lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells.Lung DiseaseA lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease inLung Giant Cell CarcinomaA lung carcinoma that is in large undifferentiated cells.Lung LeiomyomaA lung benign neoplasm that arises from some smooth muscle cell.Lung LeiomyosarcomaA leiomyosarcoma and sarcoma of lung that is in the lung.Lung Mucinous CystadenocarcinomaA lung adenocarcinoma that is a very rare malignant mucus-producing neoplasm arising from the uncontrolled growth of transformed epithelial cells originating in lung tissue.Lung Mucoepidermoid CarcinomaA lung carcinoma that is caused by a combination of squamous cells, mucus secreting cells and intermediate cells.Lung Non-Small Cell CarcinomaA lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.Lung Non-Squamous Non-Small Cell CarcinomaA lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation.Lung Papillary AdenocarcinomaA papillary adenocarcinoma that is in the lung.Lung Pleomorphic CarcinomaA pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is in the lung.Lung SarcomaA lung cancer that is in the lung and that arises from transformed cells of mesenchymal origin.Lung Sarcomatoid CarcinomaA lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation.Lung Small Cell CarcinomaA lung carcinoma that is caused by primitive-appearing cells that are smaller than normal cells and is in the lung.Lung Squamous Cell CarcinomaA non-small cell lung carcinoma that is caused by the squamous cell.Luo-Agrawal Neurodevelopmental SyndromeA syndrome characterized by neurodevelopmental delay, hypotonia, dysmorphic features, and growth restriction with or without structural brain abnormalities that is caused by homozygous mutation in the WSB2 gene on chromoLuo-Schoch-Yamamoto SyndromeA autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that is caused by heterozygous mutation in the RNF2 gene onLupus ErythematosusAn autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologiLupus NephritisKidney inflammation from lupus.Lupus (SLE)Flare tracking, organ monitoring, and support for people living with systemic lupus erythematosusLuteomaAn ovarian benign neoplasm characterized by solid proliferations of luteinized cells, resulting in a tumor-like ovarian enlargement that regresses during the puerperium.Lyme DiseaseA tick-borne infection that can cause long-lasting symptoms. Tracking your symptoms and connecting with others who understand can help you manage day to day.LymphadenitisA lymph node disease that is characterized by an acute or chronic inflammation of one or more lymph nodes.LymphangioleiomyomatosisA lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.LymphangiomaA benign vascular tumor that is composed of dilated lymphatic channels.LymphangiosarcomaA lymphatic system cancer that is caused by endothelial cells in lymphatic vessels.LymphangitisA lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) orLymphatic System CancerAn immune system cancer that is in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue.LymphedemaA lymphatic system disease that is characterized by the abnormal accumulation of lymph fluid in the body's tissues, leading to swelling.Lymphedema-Distichiasis SyndromeA syndrome characterized by lymphedema of the limbs and double rows of eyelashes that is caused by heterozygous mutation in the FOXC2 gene on chromosome 16q24.1.Lymph Node Adenoid Cystic CarcinomaA 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 areLymph Node Benign NeoplasmAn immune system organ benign neoplasm that is in the lymph nodes.Lymph Node CancerA lymphatic system cancer that is in the lymph node.Lymph Node CarcinomaA lymph node cancer that is caused by abnormally proliferating cells arises from epithelial cells.Lymph Node Palisaded MyofibroblastomaA lymph node benign neoplasm that is composed of myoid or myofibroblastic spindle cells, with focal palisading and so-called amianthoid fibers.Lymph Node TuberculosisAn extrapulmonary tuberculosis that is in lymph node, and causes lymphadenopathy, causes fever, causes weight loss, causes fatigue, causes night sweats and causes cough.Lymphoblastic LymphomaA lymphoma that is caused by immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage and in primarily lymph nodes or in extranodal sites.Lymphocytic ChoriomeningitisA viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, is caused by lymphocytic choriomeningitis virus (Mammarenavirus choriomeningitidis), whichLymphocytic ColitisA colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria).Lymphoepithelioma-Like CarcinomaA carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells.Lymphogranuloma VenereumA commensal bacterial infectious disease that causes infection in lymph nodes, is caused by Chlamydia trachomatis, which is transmitted by sexual contact, and transmitted by fomites. The infection causes inguinal lymphadLymphoid Interstitial PneumoniaAn 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 slLymphoid LeukemiaA leukemia that is caused by a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood.LymphomaCancer of the lymphatic system. Tracking your symptoms and connecting with others who understand can help you manage day to day.Lymphomatoid GranulomatosisA lymphoproliferative syndrome that is characterized by overproduction (proliferation) of white blood cells called lymphocytes. The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lLymphopeniaA leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood.Lymphoplasmacytic LymphomaA 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.Lymphoproliferative SyndromeA primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection.Lymphoproliferative Syndrome 1A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis,Lymphoproliferative Syndrome 2A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and thatLynch SyndromeAn inherited condition that raises colorectal cancer risk.Lynch Syndrome 1A Lynch syndrome that is caused by heterozygous mutations in the MSH2 gene on chromosome 2p21-p16.Lysinuric Protein IntoleranceAn 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 wLysosomal Acid Lipase DeficiencyA lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that is caused by homozygous or compound heterozygous mutation in the LIPA gene on chroLysosomal Storage DiseaseAn inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
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