Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
open_chromatin_region	SO_0001747	[A DNA sequence that in the normal state of the chromosome corresponds to an unfolded, un-complexed stretch of double-stranded DNA.]
SL3_acceptor_site	SO_0001748	[A SL2_acceptor_site which appends the SL3 RNA leader sequence to the 5' end of an mRNA. SL3 acceptor sites occur in genes in internal segments of polycistronic transcripts.]
peripheral artery disease	DOID_0050830	[An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs.]
SL4_acceptor_site	SO_0001749	[A SL2_acceptor_site which appends the SL4 RNA leader sequence to the 5' end of an mRNA. SL4 acceptor sites occur in genes in internal segments of polycistronic transcripts.]
familial encephalopathy with neuroserpin inclusion bodies	DOID_0050831	[A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.]
CHARGE syndrome	DOID_0050834	[A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.]
orotic aciduria	DOID_0050833	[A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.]
rRNA_18S	SO_0000407	[A large polynucleotide in eukaryotes, which functions as the small subunit of the ribosome.]
twintron	SO_0000406	[An intron within an intron. Twintrons are group II or III introns, into which another group II or III intron has been transposed.]
Y_RNA	SO_0000405	[Y RNAs are components of the Ro ribonucleoprotein particle (Ro RNP), in association with Ro60 and La proteins. The Y RNAs and Ro60 and La proteins are well conserved, but the function of the Ro RNP is not known. In humans the RNA component can be one of four small RNAs: hY1, hY3, hY4 and hY5. These small RNAs are predicted to fold into a conserved secondary structure containing three stem structures. The largest of the four, hY1, contains an additional hairpin.]
vault_RNA	SO_0000404	[A family of RNAs are found as part of the enigmatic vault ribonucleoprotein complex. The complex consists of a major vault protein (MVP), two minor vault proteins (VPARP and TEP1), and several small untranslated RNA molecules. It has been suggested that the vault complex is involved in drug resistance.]
U14_snoRNA	SO_0000403	[U14 small nucleolar RNA (U14 snoRNA) is required for early cleavages of eukaryotic precursor rRNAs. In yeasts, this molecule possess a stem-loop region (known as the Y-domain) which is essential for function. A similar structure, but with a different consensus sequence, is found in plants, but is absent in vertebrates.]
gene_with_start_codon_CUG	SO_0001740	[A gene with a translational start codon of CUG.]
gene_with_non_canonical_start_codon	SO_0001739	[A gene with a start codon other than AUG.]
rheumatic heart disease	DOID_0050827	[A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.]
H4K5_acetylation_site	SO_0001730	[A kind of histone modification site, whereby the 5th residue (a lysine), from the start of the H4 histone protein is acetylated.]
H4K8_acetylation_site	SO_0001731	[A kind of histone modification site, whereby the 8th residue (a lysine), from the start of the H4 histone protein is acetylated.]
H3K36_methylation_site	SO_0001733	[A kind of histone modification site, whereby the 36th residue (a lysine), from the start of the H3 histone protein is methylated.]
H3K79_methylation_site	SO_0001735	[A kind of histone modification site, whereby the 79th residue (a lysine), from the start of the H3 histone protein is methylated.]
histone_acylation_region	SO_0001737	[A histone modification, whereby the histone protein is acylated at multiple sites in a region.]