Version: 8.0.0Date: Tue Jan 28 2025
Disease Models: TU (Dre)
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:9452
Definition: A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.
Disease
Source: DOID:9119
Definition: A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.
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.
Disease
Source: DOID:104
Definition: A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.
Disease
Source: DOID:0060180
Definition: An inflammatory bowel disease that involves inflammation located_in colon.
Disease
Source: DOID:0060900
Definition: A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13.
Disease
Source: DOID:0050866
Definition: An oral cavity cancer that has_material_basis_in squamous cells.
Disease
Source: DOID:1933
Definition: A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.