Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
short_tandem_repeat_contraction	SO_0002163	[A short tandem repeat variant containing fewer repeat units than the reference sequence.]
H2BK5_acetylation_site	SO_0002164	[A kind of histone modification site, whereby the 5th residue (a lysine), from the start of the H2B histone protein is acetylated.]
histone_2B_acetylation_site	SO_0002143	[A histone 2B modification where the modification is the acetylation of the residue.]
trinucleotide_repeat_expansion	SO_0002165	[A short tandem repeat expansion with an increase in a sequence of three nucleotide units repeated in tandem compared to a reference sequence.]
ref_miRNA	SO_0002166	[A ref_miRNA (RefSeq-miRNA) sequence is assigned at the creation of a new mature miRNA entry in a database. The ref_miRNA sequence designation remains unchanged even if a different isomiR is later shown to be expressed at a higher level. A ref_miRNA can be produced by one or multiple pre-miRNA.]
miRNA	SO_0000276	[Small, ~22-nt, RNA molecule that is the endogenous transcript of a miRNA gene (or the product of other non coding RNA genes. Micro RNAs are produced from precursor molecules (SO:0000647) that can form local hairpin structures, which ordinarily are processed (usually via the Dicer pathway) such that a single miRNA molecule accumulates from one arm of a hairpin precursor molecule. Micro RNAs may trigger the cleavage of their target molecules or act as translational repressors.]
isomiR	SO_0002167	[IsomiRs are all the bona fide variants of a mature product. IsomiRs should be connected to the ref_miRNA it is most likely to be the variant of. Some isomiRs can be variations of one or multiple ref_miRNA.]
RNA_thermometer	SO_0002168	[An RNA_thermometer is a cis element in the 5' end of an mRNA that can change its secondary structure in response to temperature and coordinate temperature-dependent gene expression.]
splice_polypyrimidine_tract_variant	SO_0002169	[A sequence variant that falls in the polypyrimidine tract at 3' end of intron between 17 and 3 bases from the end (acceptor -3 to acceptor -17).]
splicing_variant	SO_0001568	[A sequence variant that changes the process of splicing.]
SHP_box	SO_0002159	[A conserved Cdc48/p97 interaction motif with strict consensus sequence F[PI]GKG[TK][RK]LG[GT] and relaxed consensus sequence FXGKGX[RK]LG.]
polypeptide_conserved_motif	SO_0100017	[A conserved motif is a short (up to 20 amino acids) region of biological interest that is conserved in different proteins. They may or may not have functional or structural significance within the proteins in which they are found.]
pilocytic astrocytoma	DOID_4851	[An astrocytoma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain.]
obsolete glioma of visual pathway	DOID_4850
pediatric fibrosarcoma	DOID_3520
obsolete childhood soft tissue sarcoma	DOID_3521	[A sarcoma that affects children and is located_in the soft tissues of the body.]
pilocytic astrocytoma of cerebellum	DOID_4853
cerebellar astrocytoma	DOID_4848
pleomorphic xanthoastrocytoma	DOID_4852
lateral medullary syndrome	DOID_3522	[A brain stem infarction that is characterized by hoarseness, dizziness, nausea, located_in the lateral part of the medulla oblongata that develops from a blockage in the posterior inferior cerebellar artery or one of its branches or of the vertebral artery, has_symptom vertigo, has_symptom ipsilateral cerebellar signs, has_symptom contralateral sensory deficits of limbs and torso, has_symptom ipsilateral sensory deficits of face, has_symptom laryngeal, pharyngeal, and palatal hemiparalysis, has_symptom ipsilateral Horner's syndrome.]