Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
linkage_group	SO_0000018	[A group of loci that can be grouped in a linear order representing the different degrees of linkage among the genes concerned.]
autosomal dominant non-syndromic intellectual disability 10	DOID_0070040	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CACNG2 on chromosome 22q12.3.]
two_prime_O_methylpseudouridine	SO_0001348	[2prime_O_methylpseudouridine is a modified uridine base feature.]
PSE_motif	SO_0000017	[A sequence element characteristic of the promoters of snRNA genes transcribed by RNA polymerase II or by RNA polymerase III. Located between -45 and -60 relative to the TSS. The human PSE_motif consensus sequence is TCACCNTNA(C\|G)TNAAAAG(T\|G).]
autosomal dominant non-syndromic intellectual disability 11	DOID_0070041	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of EPB41L1 on chromosome 20q11.23.]
one_methylpseudouridine	SO_0001347	[1_methylpseudouridine is a modified uridine base feature.]
BREu_motif	SO_0000016	[A sequence element characteristic of some RNA polymerase II promoters, located immediately upstream of some TATA box elements at -37 to -32 with respect to the TSS (+1). Consensus sequence is (G\|C)(G\|C)(G\|A)CGCC. Binds TFIIB.]
five_two_prime_O_dimethyluridine	SO_0001346	[5_2_prime_O_dimethyluridine is a modified uridine base feature.]
DPE_motif	SO_0000015	[A sequence element characteristic of some RNA polymerase II promoters; Positioned from +28 to +32 with respect to the TSS (+1). Experimental results suggest that the DPE acts in conjunction with the INR_motif to provide a binding site for TFIID in the absence of a TATA box to mediate transcription of TATA-less promoters. Consensus sequence (A\|G)G(A\|T)(C\|T)(G\|A\|C).]
two_prime_O_methyluridine	SO_0001345	[2prime_O_methyluridine is a modified uridine base feature.]
INR_motif	SO_0000014	[A sequence element characteristic of some RNA polymerase II promoters required for the correct positioning of the polymerase for the start of transcription. Overlaps the TSS. The mammalian consensus sequence is YYAN(T\|A)YY; the Drosophila consensus sequence is TCA(G\|T)t(T\|C). In each the A is at position +1 with respect to the TSS. Functionally similar to the TATA box element.]
five_methoxyuridine	SO_0001355	[5_methoxyuridine is a modified uridine base feature.]
sarcin_like_RNA_motif	SO_0000024	[A loop in ribosomal RNA containing the sites of attack for ricin and sarcin.]
asymmetric_RNA_internal_loop	SO_0000021	[An internal RNA loop where one of the strands includes more bases than the corresponding region on the other strand.]
K_turn_RNA_motif	SO_0000023	[The kink turn (K-turn) is an RNA structural motif that creates a sharp (~120 degree) bend between two continuous helices.]
five_hydroxyuridine	SO_0001354	[5_hydroxyuridine is a modified uridine base feature.]
A_minor_RNA_motif	SO_0000022	[A region forming a motif, composed of adenines, where the minor groove edges are inserted into the minor groove of another helix.]
RNA_motif	SO_0000715	[A motif that is active in RNA sequence.]
three_three_amino_three_carboxypropyl_uridine	SO_0001353	[3_3_amino_3_carboxypropyl_uridine is a modified uridine base feature.]
RNA_internal_loop	SO_0000020	[A region of double stranded RNA where the bases do not conform to WC base pairing. The loop is closed on both sides by canonical base pairing. If the interruption to base pairing occurs on one strand only, it is known as a bulge.]