Version: 8.0.0Date: Tue Jan 28 2025
Disease Genes: mmp9.L (Xla)
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: mmp9.L (Xla)
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: mmp9.L (Xla)
Disease
Source: DOID:9352
Definition: A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.
Genes: mmp9.L (Xla)
Disease
Source: DOID:6000
Definition: A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.
Genes: mmp9.L (Xla)
Disease
Source: DOID:1826
Definition: A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.
Genes: mmp9.L (Xla)
Disease
Source: DOID:7148
Definition: An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.
Genes: mmp9.L (Xla)
Disease
Source: DOID:0060041
Definition: A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.
Genes: mmp9.L (Xla)
Disease
Source: DOID:14250
Definition: A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.
Genes: mmp9.L (Xla)
Disease
Source: DOID:1686
Definition: An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.
Genes: mmp9.L (Xla)
Disease
Source: DOID:1793
Definition: An endocrine gland cancer located_in the pancreas.
Genes: mmp9.L (Xla)
Source: DOID:332
Definition: A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
Genes: mmp9.L (Xla)
Disease
Source: DOID:0050700
Definition: A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
Genes: mmp9.L (Xla)
Disease
Source: DOID:2377
Definition: A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.
Genes: mmp9.L (Xla)
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: mmp9.L (Xla)
Source: DOID:13810
Definition: A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.
Genes: mmp9.L (Xla)
Disease
Source: DOID:10763
Definition: An artery disease characterized by chronic elevated blood pressure in the arteries.
Genes: mmp9.L (Xla)
Disease
Source: DOID:13550
Definition: A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.
Genes: mmp9.L (Xla)
Disease
Source: DOID:11054
Definition: An urinary system cancer that results_in malignant growth located_in the urinary bladder.
Genes: mmp9.L (Xla)
Disease
Source: DOID:850
Definition: A 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 in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.
Genes: mmp9.L (Xla)
Disease
Source: DOID:3393
Definition: An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.
Genes: mmp9.L (Xla)
Disease
Source: DOID:1485
Definition: A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.
Genes: mmp9.L (Xla)
Disease
Source: DOID:13241
Definition: A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis.
Genes: mmp9.L (Xla)
Source: DOID:898
Definition: A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.
Genes: mmp9.L (Xla)
Disease
Source: DOID:8923
Definition: A skin cancer that has_material_basis_in melanocytes.
Genes: mmp9.L (Xla)
Source: DOID:1094
Definition: A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.
Genes: mmp9.L (Xla)
Disease
Source: DOID:10534
Definition: A gastrointestinal system cancer that is located_in the stomach.
Genes: mmp9.L (Xla)
Disease
Source: DOID:8398
Definition: An arthritis that has_material_basis_in worn out cartilage located_in joint.
Genes: mmp9.L (Xla)
Disease
Source: DOID:3068
Definition: A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.
Genes: mmp9.L (Xla)
Disease
Source: DOID:874
Definition: A pneumonia involving inflammation of the lungs caused by bacteria.
Genes: mmp9.L (Xla)
Disease
Source: DOID:4079
Definition: A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).
Genes: mmp9.L (Xla)
Disease
Source: DOID:10588
Definition: A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
Genes: mmp9.L (Xla)
Disease
Source: DOID:3082
Definition: A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.
Genes: mmp9.L (Xla)
Disease
Source: DOID:4947
Definition: A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.
Genes: mmp9.L (Xla)
Disease
Source: DOID:11984
Definition: An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.
Genes: mmp9.L (Xla)
Disease
Source: DOID:9256
Definition: A large intestine cancer that is located_in the colon and/or located_in the rectum.
Genes: mmp9.L (Xla)
Disease
Source: DOID:14261
Definition: A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.
Genes: mmp9.L (Xla)
Disease
Source: DOID:10223
Definition: A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.
Genes: mmp9.L (Xla)
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: mmp9.L (Xla)
Disease
Source: DOID:1657
Definition: A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.
Genes: mmp9.L (Xla)
Disease
Source: DOID:9563
Definition: A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.
Genes: mmp9.L (Xla)
Source: DOID:3908
Definition: A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.
Genes: mmp9.L (Xla)
Disease
Source: DOID:2349
Definition: An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.
Genes: mmp9.L (Xla)
Disease
Source: DOID:418
Definition: A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.
Genes: mmp9.L (Xla)
Disease
Source: DOID:3328
Definition: A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.
Genes: mmp9.L (Xla)
Disease
Source: DOID:5844
Definition: A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.
Genes: mmp9.L (Xla)
Disease
Source: DOID:0002116
Definition: A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation.
Genes: mmp9.L (Xla)
Disease
Source: DOID:14004
Definition: An aortic aneurysm that is located_in the thoracic aorta.
Genes: mmp9.L (Xla)
Disease
Source: DOID:2871
Definition: A endometrial cancer that is located_in the tissue lining the uterus.
Genes: mmp9.L (Xla)
Disease
Source: DOID:0050827
Definition: A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.
Genes: mmp9.L (Xla)