All terms in DOID

Label Id Description
obsolete pulmonary congestion and hypostasis DOID_13192
hexahydrophthalic anhydride allergic asthma DOID_0040051 [An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride.]
tetrachlorophthalic anhydride allergic asthma DOID_0040050 [An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride.]
bilateral generalized polymicrogyria DOID_0080920 [A polymicrogyria that is characterized severe intellectual disability, problems with movement, and seizures and that affects the entire brain.]
polymicrogyria DOID_0080918 [A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri).]
endemic goiter DOID_13198 [A nutritional deficiency disease characterized by noncancerous enlargement of the thyroid gland and has_material_basis_in iodine deficiency.]
bilateral frontal polymicrogyria DOID_0080921 [A polymicrogyria that is characterized as a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability.]
nodular goiter DOID_13197
lingual goiter DOID_13196
nontoxic goiter DOID_13195
obsolete non-toxic nodular goiter DOID_13194
7q11.23 duplication syndrome DOID_0080926 [A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7.]
apolipoprotein A-IV associated amyloidosis DOID_0080927 [An amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease.]
amyloidosis DOID_9120 [A disease of metabolism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition.]
right atrium valve UBERON_0005208
dialysis-related amyloidosis DOID_0080928 [An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy.]
variant ABeta2M amyloidosis DOID_0080929 [An amyloidosis that is characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.]
bilateral frontoparietal polymicrogyria DOID_0080922 [A polymicrogyria that is characterized by a global developmental delay with impaired intellectual development, motor delay, poor speech development, and early-onset seizures, often focal or atypical absence and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21.]
bilateral parasagittal parieto-occipital polymicrogyria DOID_0080923 [A polymicrogyria that is characterized by bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex and that has_material_basis_in homozygous mutation in the FIG4 gene on chromosome 6q21.]
complex cortical dysplasia with other brain malformations 14B DOID_0080924 [A polymicrogyria that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21.]