Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
retinitis pigmentosa 17	DOID_0110404	[A retinitis pigmentosa that has_material_basis_in mutation in the CA4 gene on chromosome 17q23.1.]
non_canonical_five_prime_splice_site	SO_0000679	[A 5' splice site which does not have the sequence "GT".]
five_prime_cis_splice_site	SO_0000163	[Intronic 2 bp region bordering the exon, at the 5' edge of the intron. A splice_site that is downstream_adjacent_to exon and starts intron.]
retinitis pigmentosa 74	DOID_0110401	[A retinitis pigmentosa that has_material_basis_in mutation in the BBS2 gene on chromosome 16q13.]
non_canonical_three_prime_splice_site	SO_0000678	[A 3' splice site that does not have the sequence "AG".]
three_prime_cis_splice_site	SO_0000164	[Intronic 2 bp region bordering the exon, at the 3' edge of the intron. A splice_site that is upstream_adjacent_to exon and finishes intron.]
retinitis pigmentosa 45	DOID_0110402	[A retinitis pigmentosa that has_material_basis_in mutation in the CNGB1 gene on chromosome 16q13.]
canonical_five_prime_splice_site	SO_0000677	[The canonical 5' splice site has the sequence "GT".]
susceptibility to focal segmental glomerulosclerosis 4	OMIM_612551
canonical_three_prime_splice_site	SO_0000676	[The canonical 3' splice site has the sequence "AG".]
retinitis pigmentosa 22	DOID_0110400	[A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 16p12.3-p12.1.]
nuclease_sensitive_site	SO_0000684	[A region of nucleotide sequence targeted by a nuclease enzyme.]
exonic_splice_enhancer	SO_0000683	[Exonic splicing enhancers (ESEs) facilitate exon definition by assisting in the recruitment of splicing factors to the adjacent intron.]
splice_enhancer	SO_0000344	[Region of a transcript that regulates splicing.]
retinitis pigmentosa 46	DOID_0110409	[A retinitis pigmentosa that has_material_basis_in mutation in the IDH3B on chromosome 20p13.]
aberrant_processed_transcript	SO_0000681	[A transcript that has been processed "incorrectly", for example by the failure of splicing of one or more exons.]
start_codon	SO_0000318	[First codon to be translated by a ribosome.]
retinitis pigmentosa 57	DOID_0110407	[A retinitis pigmentosa that has_material_basis_in mutation in the PDE6G gene on chromosome 17q25.3.]
retinitis pigmentosa 11	DOID_0110408	[A retinitis pigmentosa that has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13.]
retinitis pigmentosa 36	DOID_0110405	[A retinitis pigmentosa that has_material_basis_in mutation in the PRCD gene on chromosome 17q25.]