Version: 8.0.0Date: Tue Jan 28 2025
Disease Genes: LEP (Hsa)
Disease
Source: DOID:10652
Definition: A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.
Genes: LEP (Hsa)
Disease
Source: DOID:2841
Definition: A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.
Genes: LEP (Hsa)
Disease
Source: DOID:9352
Definition: A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.
Genes: LEP (Hsa)
Disease
Source: DOID:1612
Definition: An organ system cancer that originates in the mammary gland.
Genes: LEP (Hsa)
Disease
Source: DOID:14330
Definition: A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
Genes: LEP (Hsa)
Disease
Source: DOID:3146
Definition: An inherited metabolic disorder that involves the creation and degradation of lipids.
Genes: LEP (Hsa)
Disease
Source: DOID:9970
Definition: An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.
Genes: LEP (Hsa)
Disease
Source: DOID:12858
Definition: A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.
Genes: LEP (Hsa)
Disease
Source: DOID:9452
Definition: A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.
Genes: LEP (Hsa)
Disease
Source: DOID:10763
Definition: An artery disease characterized by chronic elevated blood pressure in the arteries.
Genes: LEP (Hsa)
Source: DOID:0080208
Definition: A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.
Genes: LEP (Hsa)
Disease
Source: DOID:1485
Definition: A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.
Genes: LEP (Hsa)
Disease
Source: DOID:8398
Definition: An arthritis that has_material_basis_in worn out cartilage located_in joint.
Genes: LEP (Hsa)
Disease
Source: DOID:684
Definition: A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.
Genes: LEP (Hsa)
Source: DOID:3908
Definition: A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.
Genes: LEP (Hsa)
Disease
Source: DOID:10591
Definition: A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.
Genes: LEP (Hsa)
Disease
Source: DOID:1924
Definition: A gonadal disease that is characterized by diminished functional activity of the gonads.
Genes: LEP (Hsa)
Disease
Source: DOID:11476
Definition: A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.
Genes: LEP (Hsa)
Disease
Source: DOID:783
Definition: A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.
Genes: LEP (Hsa)
Disease
Source: DOID:4483
Definition: A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.
Genes: LEP (Hsa)
Source: DOID:0060611
Definition: A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease.
Genes: LEP (Hsa)
Source: DOID:14221
Definition: An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events.
Genes: LEP (Hsa)
Disease
Source: DOID:0050741
Definition: A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.
Genes: LEP (Hsa)
Disease
Source: DOID:10605
Definition: An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine.
Genes: LEP (Hsa)
Disease
Source: DOID:4450
Definition: A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.
Genes: LEP (Hsa)
Source: DOID:11394
Definition: A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.
Genes: LEP (Hsa)
Disease
Source: DOID:0111334
Definition: A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1.
Genes: LEP (Hsa)
Source: DOID:3083
Definition: An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.
Genes: LEP (Hsa)
Disease
Source: DOID:0050848
Definition: A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.
Genes: LEP (Hsa)
Disease
Source: DOID:2913
Definition: A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.
Genes: LEP (Hsa)
Disease
Source: DOID:12236
Definition: A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.
Genes: LEP (Hsa)
Source: DOID:5016
Definition: Not Available
Genes: LEP (Hsa)
Disease
Source: DOID:11714
Definition: A diabetes mellitus that manifests during pregnancy.
Genes: LEP (Hsa)