Version: 8.0.0Date: Tue Jan 28 2025
Disease Associated Species: Homo sapiens Genes: AKT1 (Hsa)
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: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.
Disease
Source: DOID:7
Definition: A disease that manifests in a defined anatomical structure.
Source: DOID:0060400
Definition: A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment.
Source: DOID:17
Definition: A disease of anatomical entity that occurs in the muscular and/or skeletal system.
Disease
Source: DOID:0050687
Definition: A cancer that is classified by the type of cell from which it is derived.
Source: DOID:0060111
Definition: A female reproductive organ benign neoplasm that is located_in the fallopian tube.
Disease
Source: DOID:0080604
Definition: A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 9q31-q34.
Disease
Source: DOID:3463
Definition: A disease of anatomical entity that is located_in the breast.
Source: DOID:0060030
Definition: An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat.
Disease
Source: DOID:345
Definition: A female reproductive system disease that is located_in the uterus.
Source: DOID:0060430
Definition: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language.
Disease
Source: DOID:0050739
Definition: A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
Source: DOID:0080503
Definition: A lipid metabolism disorder that is characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple cardiac, genitourinary, and gastrointestinal congenital anomalies.
Disease
Source: DOID:184
Definition: A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue.
Source: DOID:0080638
Definition: An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood.
Source: DOID:0111689
Definition: An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities.
Source: DOID:0060433
Definition: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region.
Disease
Source: DOID:0060084
Definition: A benign neoplasm that is classified by the type of cell or tissue from which it is derived.
Disease
Source: DOID:0050701
Definition: An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.
Source: DOID:0060392
Definition: A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14.
Source: DOID:13791
Definition: A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection.
Disease
Source: DOID:3480
Definition: An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid.
Disease
Source: DOID:92
Definition: A communication disorder that involves difficulty with the act of speech production.
Disease
Source: DOID:9267
Definition: An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.
Disease
Source: DOID:0060336
Definition: An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine.
Source: DOID:0050541
Definition: A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance.
Disease
Source: DOID:599
Definition: A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations.
Disease
Source: DOID:0111280
Definition: A psoriasis that has_material_basis_in variation in a region on chromosome 1q21.
Disease
Source: DOID:11360
Definition: A viral infectious disease that results in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted by Phlebotomus papatasi sandfly. The infection has symptom fever, has symptom severe frontal headaches, has symptom muscle ache, has symptom joint aches, has symptom flushing of the face, and has symptom tachycardia.
Disease
Source: DOID:12603
Definition: A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream.
Source: DOID:0060424
Definition: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region.
Source: DOID:0060121
Definition: An organ system benign neoplasm located_in the integumentary system organs.
Disease
Source: DOID:7521
Definition: A breast myoepithelial neoplasm that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in or around small ducts.
Disease
Source: DOID:6050
Definition: A gastrointestinal system disease that is located_in the esophagus.
Disease
Source: DOID:4305
Definition: A benign giant cell tumor that results_in the presence of multinucleated giant cells.
Disease
Source: DOID:0111250
Definition: A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region.
Source: DOID:0060056
Definition: An immune system disease that has_material_basis_in abnormal immune responses.
Disease
Source: DOID:0060166
Definition: A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.
Disease
Source: DOID:0060228
Definition: An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.
Disease
Source: DOID:0060024
Definition: A B cell deficiency that has_material_basis_in 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.
Disease
Source: DOID:0060042
Definition: An autism spectrum disorder that involves some autistic symptoms occurring after age 3 with an absence of all the traits necessary for a diagnosis of autism.
Disease
Source: DOID:0080014
Definition: A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
Disease
Source: DOID:1400
Definition: An eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye.
Disease
Source: DOID:6367
Definition: A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes.
Disease
Source: DOID:1114
Definition: An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus.
Disease
Source: DOID:1785
Definition: An endocrine gland cancer located_in the pituitary gland located at the base of the brain.