Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
autosomal recessive nonsyndromic deafness 42	DOID_0110500	[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ILDR1 gene on chromosome 3q13.]
edited_transcript_feature	SO_0000579	[A locatable feature on a transcript that is edited.]
autosomal recessive nonsyndromic deafness 44	DOID_0110501	[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ADCY1 gene on chromosome 7p12.]
snoRNA_encoding	SO_0000578
centromere	SO_0000577	[A region of chromosome where the spindle fibers attach during mitosis and meiosis.]
chromosomal_structural_element	SO_0000628
VJ_gene_segment	SO_0000576	[Rearranged genomic DNA of immunoglobulin/T-cell receptor gene including L-part1, V-intron and V-J-exon, with the 5'UTR (SO:0000204) and 3'UTR (SO:0000205).]
vertebrate_immunoglobulin_T_cell_receptor_rearranged_segment	SO_0000936
scRNA_encoding	SO_0000575
C_D_box_snoRNA_encoding	SO_0000585
tmRNA	SO_0000584	[A tmRNA liberates a mRNA from a stalled ribosome. To accomplish this part of the tmRNA is used as a reading frame that ends in a translation stop signal. The broken mRNA is replaced in the ribosome by the tmRNA and translation of the tmRNA leads to addition of a proteolysis tag to the incomplete protein enabling recognition by a protease. Recently a number of permuted tmRNAs genes have been found encoded in two parts. TmRNAs have been identified in eubacteria and some chloroplasts but are absent from archeal and Eukaryote nuclear genomes.]
pre_edited_region	SO_0000583	[The region of a transcript that will be edited.]
autosomal recessive nonsyndromic deafness 51	DOID_0110508	[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p13-p12.]
rRNA_cleavage_snoRNA_primary_transcript	SO_0000582	[A primary transcript encoding an rRNA cleavage snoRNA.]
autosomal recessive nonsyndromic deafness 53	DOID_0110509	[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 COL11A2 gene on chromosome 6p21.]
cap	SO_0000581	[A structure consisting of a 7-methylguanosine in 5'-5' triphosphate linkage with the first nucleotide of an mRNA. It is added post-transcriptionally, and is not encoded in the DNA.]
autosomal recessive nonsyndromic deafness 49	DOID_0110506	[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13.]
methylation_guide_snoRNA_primary_transcript	SO_0000580	[A primary transcript encoding a methylation guide small nucleolar RNA.]
autosomal recessive nonsyndromic deafness 5	DOID_0110507	[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q12.]
autosomal recessive nonsyndromic deafness 47	DOID_0110504	[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p25.1-p24.3.]