Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
osteoblastoma	DOID_0060098	[A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas.]
geniculate ganglionitis	DOID_14075
triple-receptor negative breast cancer	DOID_0060081	[A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors.]
Her2-receptor negative breast cancer	DOID_0060080	[A breast cancer that is characterized by the absence of Her2 receptors.]
glucocorticoid-remediable aldosteronism	DOID_14080
toxic labyrinthitis	DOID_14081	[A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic.]
osteoarthritis susceptibility 2	OMIM_140600
chromosome 16p12.1 deletion syndrome, 520kb	DOID_0060399	[A chromosomal deletion syndrome that has_material_basis_in a deletion on the short (p) arm of the chromosome at a location designated p12.2 and is characterized by developmental delay, delayed speech, intellectual disability that ranges from mild to profound, weak muscle tone, slow growth resulting in short stature, an usually small head, malformations of the heart, recurrent seizures, and psychiatric and behavioral problems.]
MITE	SO_0000338	[A highly repetitive and short (100-500 base pair) transposable element with terminal inverted repeats (TIR) and target site duplication (TSD). MITEs do not encode proteins.]
distal_promoter_element	SO_0001670
RNAi_reagent	SO_0000337	[A double stranded RNA duplex, at least 20bp long, used experimentally to inhibit gene function by RNA interference.]
ascending colon cancer	DOID_218
bacterial_RNApol_promoter_sigma_70	SO_0001671
bacterial_RNApol_promoter_sigma54	SO_0001672
mRNA_with_minus_2_frameshift	SO_0000335	[A mRNA with a minus 2 frameshift.]
minus_12_signal	SO_0001673	[A conserved region about 12-bp upstream of the start point of bacterial transcription units, involved with sigma factor 54.]
nc_conserved_region	SO_0000334	[Non-coding region of sequence similarity by descent from a common ancestor.]
minus_24_signal	SO_0001674	[A conserved region about 12-bp upstream of the start point of bacterial transcription units, involved with sigma factor 54.]
exon_junction	SO_0000333	[The boundary between two exons in a processed transcript.]
distal 10q deletion syndrome	DOID_0060390	[A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10.]