Version: 8.0.0Date: Tue Jan 28 2025
Disease Genes: ACAP1 (Hsa)
Source: DOID:0080599
Definition: A viral infectious disease that has_material_basis_in Coronavirus.
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.
Disease
Source: DOID:906
Definition: An inherited metabolic disorder that involves peroxisome malfunction.
Disease
Source: DOID:0080600
Definition: A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2.
Disease
Source: DOID:3211
Definition: An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
Disease
Source: DOID:10923
Definition: A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.
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.
Source: DOID:0060809
Definition: A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11.
Disease
Source: DOID:5614
Definition: An eye and adnexa disease that is located_in the eye.
Disease
Source: DOID:114
Definition: A cardiovascular system disease that involves the heart.
Disease
Source: DOID:9352
Definition: A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.
Disease
Source: DOID:1612
Definition: An organ system cancer that originates in the mammary gland.
Disease
Source: DOID:0050777
Definition: A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
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.
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.
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.
Disease
Source: DOID:4428
Definition: A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability.
Disease
Source: DOID:3312
Definition: A mood disorder that involves alternating periods of mania and depression.
Disease
Source: DOID:0110957
Definition: A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
Disease
Source: DOID:37
Definition: An integumentary system disease that is located_in skin.
Disease
Source: DOID:9351
Definition: A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.
Disease
Source: DOID:7148
Definition: An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.
Source: DOID:612
Definition: An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.
Disease
Source: DOID:9278
Definition: An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.
Disease
Source: DOID:3146
Definition: An inherited metabolic disorder that involves the creation and degradation of lipids.
Disease
Source: DOID:655
Definition: A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
Source: DOID:700
Definition: An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.
Disease
Source: DOID:0050177
Definition: A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
Disease
Source: DOID:0014667
Definition: A disease that involving errors in metabolic processes of building or degradation of molecules.
Disease
Source: DOID:4
Definition: A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
Source: DOID:0111072
Definition: A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2.
Disease
Source: DOID:8466
Definition: A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.
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.
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.
Disease
Source: DOID:1793
Definition: An endocrine gland cancer located_in the pancreas.
Disease
Source: DOID:552
Definition: A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.
Disease
Source: DOID:6039
Definition: A uveal cancer that has_material_basis_in uvea pigment cells.
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.
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.
Disease
Source: DOID:936
Definition: A central nervous system disease that is located_in the brain.
Disease
Source: DOID:905
Definition: A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.
Source: DOID:0050730
Definition: A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.
Disease
Source: DOID:9849
Definition: A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.
Disease
Source: DOID:9074
Definition: A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.
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.
Disease
Source: DOID:2394
Definition: A female reproductive organ cancer that is located_in the ovary.
Disease
Source: DOID:7
Definition: A disease that manifests in a defined anatomical structure.