Version: 8.0.0Date: Tue Jan 28 2025
Disease Genes: sod1.S (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: sod1.S (Xla)
Disease
Source: DOID:9352
Definition: A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.
Genes: sod1.S (Xla)
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: sod1.S (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: sod1.S (Xla)
Disease
Source: DOID:9744
Definition: A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.
Genes: sod1.S (Xla)
Disease
Source: DOID:1793
Definition: An endocrine gland cancer located_in the pancreas.
Genes: sod1.S (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: sod1.S (Xla)
Source: DOID:0060193
Definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS.
Genes: sod1.S (Xla)
Disease
Source: DOID:10763
Definition: An artery disease characterized by chronic elevated blood pressure in the arteries.
Genes: sod1.S (Xla)
Disease
Source: DOID:83
Definition: A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.
Genes: sod1.S (Xla)
Disease
Source: DOID:10584
Definition: A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
Genes: sod1.S (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: sod1.S (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: sod1.S (Xla)
Disease
Source: DOID:224
Definition: A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.
Genes: sod1.S (Xla)
Disease
Source: DOID:231
Definition: A neurodegenerative disease that is located_in the motor neurons.
Genes: sod1.S (Xla)
Disease
Source: DOID:5844
Definition: A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.
Genes: sod1.S (Xla)
Disease
Source: DOID:4448
Definition: A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.
Genes: sod1.S (Xla)
Disease
Source: DOID:9111
Definition: A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.
Genes: sod1.S (Xla)
Disease
Source: DOID:13544
Definition: An 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 average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision.
Genes: sod1.S (Xla)
Disease
Source: DOID:0060224
Definition: A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.
Genes: sod1.S (Xla)
Source: DOID:678
Definition: A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain.
Genes: sod1.S (Xla)
Disease
Source: DOID:649
Definition: A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins.
Genes: sod1.S (Xla)
Source: DOID:12716
Definition: A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.
Genes: sod1.S (Xla)
Disease
Source: DOID:11713
Definition: A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.
Genes: sod1.S (Xla)