Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
autosomal recessive nonsyndromic deafness 6	DOID_0110512	[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMIE gene on chromosome 3p21.]
recoding_pseudoknot	SO_0000545	[The pseudoknots involved in recoding are unique in that, as they play their role as a structure, they are immediately unfolded and their now linear sequence serves as a template for decoding.]
pseudoknot	SO_0000591	[A tertiary structure in RNA where nucleotides in a loop form base pairs with a region of RNA downstream of the loop.]
helitron	SO_0000544	[A rolling circle transposon. Autonomous helitrons encode a 5'-to-3' DNA helicase and nuclease/ligase similar to those encoded by known rolling-circle replicons.]
DNA_transposon	SO_0000182	[A transposon where the mechanism of transposition is via a DNA intermediate.]
autosomal recessive nonsyndromic deafness 55	DOID_0110510	[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.2.]
transcript_translocation	SO_0001883	[A feature translocation where the region contains a transcript.]
V_DJ_C_cluster	SO_0000542	[Genomic DNA of immunoglobulin/T-cell receptor gene in rearranged configuration including at least one V-gene, one DJ-gene and one C-gene.]
Shine_Dalgarno_sequence	SO_0000552	[A region in the 5' UTR that pairs with the 16S rRNA during formation of the preinitiation complex.]
ribosome_entry_site	SO_0000139	[Region in mRNA where ribosome assembles.]
interchromosomal_breakpoint	SO_0001873	[A rearrangement breakpoint between two different chromosomes.]
polyA_signal_sequence	SO_0000551	[The recognition sequence necessary for endonuclease cleavage of an RNA transcript that is followed by polyadenylation; consensus=AATAAA.]
intrachromosomal_breakpoint	SO_0001874	[A rearrangement breakpoint within the same chromosome.]
unassigned_supercontig	SO_0001875	[A supercontig that is not been assigned to any ultracontig during a genome assembly project.]
supercontig	SO_0000148	[One or more contigs that have been ordered and oriented using end-read information. Contains gaps that are filled with N's.]
autosomal recessive nonsyndromic deafness 68	DOID_0110519	[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the S1PR2 gene on chromosome 19p13.]
partial_genomic_sequence_assembly	SO_0001876	[A partial DNA sequence assembly of a chromosome or full genome, which contains gaps that are filled with N's.]
sequence_assembly	SO_0000353	[A sequence of nucleotides that has been algorithmically derived from an alignment of two or more different sequences.]
autosomal recessive nonsyndromic deafness 66	DOID_0110517	[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the DCDC2 gene on chromosome 6p22.]
autosomal recessive nonsyndromic deafness 67	DOID_0110518	[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LHFPL5 gene on chromosome 6p21.]