Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
autosomal recessive nonsyndromic deafness 71	DOID_0110522	[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 8p22-p21.3.]
transcript_regulatory_region_fusion	SO_0001890	[A feature fusion where the deletion brings together a regulatory region and a transcript region.]
feature_fusion	SO_0001882	[A sequence variant, caused by an alteration of the genomic sequence, where a deletion fuses genomic features.]
three_prime_clip	SO_0000557	[3'-most region of a precursor transcript that is clipped off during processing.]
clip	SO_0000303	[Part of the primary transcript that is clipped off during processing.]
autosomal recessive nonsyndromic deafness 74	DOID_0110523	[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MSRB3 gene on chromosome 12q14.]
regulatory_region_amplification	SO_0001891	[A feature amplification of a region containing a regulatory region.]
feature_amplification	SO_0001880	[A sequence variant, caused by an alteration of the genomic sequence, where the structural change, an amplification of sequence, is greater than the extent of the underlying genomic features.]
five_prime_D_recombination_signal_sequence	SO_0000556	[Recombination signal of an immunoglobulin/T-cell receptor gene, including the 5' D-nonamer (SO:0000497), 5' D-spacer (SO:0000498), and 5' D-heptamer (SO:0000396) in 5' of the D-region of a D-gene, or in 5' of the D-region of DJ-gene.]
autosomal recessive nonsyndromic deafness 7	DOID_0110520	[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 TMC1 gene on chromosome 9q21.]
TFBS_amplification	SO_0001892	[A feature amplification of a region containing a transcription factor binding site.]
five_prime_clip	SO_0000555	[5' most region of a precursor transcript that is clipped off during processing.]
autosomal recessive nonsyndromic deafness 70	DOID_0110521	[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16.]
transcript_ablation	SO_0001893	[A feature ablation whereby the deleted region includes a transcript feature.]
feature_ablation	SO_0001879	[A sequence variant, caused by an alteration of the genomic sequence, where the deletion, is greater than the extent of the underlying genomic features.]
polyA_site	SO_0000553	[The site on an RNA transcript to which will be added adenine residues by post-transcriptional polyadenylation. The boundary between the UTR and the polyA sequence.]
vertebrate_immune_system_gene_recombination_spacer	SO_0000563
vertebrate_immune_system_gene_recombination_feature	SO_0000301
regulatory_region_translocation	SO_0001884	[A feature translocation where the region contains a regulatory region.]
feature_translocation	SO_0001881	[A sequence variant, caused by an alteration of the genomic sequence, where the structural change, a translocation, is greater than the extent of the underlying genomic features.]