Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
organic heterocyclic compound	CHEBI_24532	[A cyclic compound having as ring members atoms of carbon and at least of one other element.]
inverted_insertional_duplication	SO_1000153	[An insertional duplication where a copy of the segment between the first two breaks listed is inserted at the third break; the insertion is in cytologically inverted orientation with respect to its flanking segments.]
insertional_duplication	SO_1000154	[A chromosome duplication involving the insertion of a duplicated region (as opposed to a free duplication).]
uninverted_insertional_duplication	SO_1000152	[An insertional duplication where a copy of the segment between the first two breaks listed is inserted at the third break; the insertion is in cytologically the same orientation as its flanking segments.]
three_prime_overlapping_ncrna	SO_0002120	[Transcript where ditag (digital gene expression profiling)and/or published experimental data strongly supports the existence of short non-coding transcripts transcribed from the 3'UTR.]
chromosomal_transposition	SO_0000453	[A chromosome structure variant whereby a region of a chromosome has been transferred to another position. Among interchromosomal rearrangements, the term transposition is reserved for that class in which the telomeres of the chromosomes involved are coupled (that is to say, form the two ends of a single DNA molecule) as in wild-type.]
interchromosomal_mutation	SO_1000031	[A chromosomal structure variation whereby more than one chromosome is involved.]
vertebrate_immune_system_gene	SO_0002121	[The configuration of the IG and TR variable (V), diversity (D) and joining (J) germline genes before DNA rearrangements (with or without constant (C) genes in undefined configuration. (germline, non rearranged regions of the IG DNA loci).]
chromosomal_duplication	SO_1000037	[An extra chromosome.]
immunoglobulin_gene	SO_0002122	[A germline immunoglobulin gene.]
IG_C_gene	SO_0002123	[A constant (C) gene, a gene that codes the constant region of an immunoglobulin chain.]
IG_D_gene	SO_0002124	[A gene that rearranges at the DNA level and codes the diversity region of the variable domain of an immunoglobuin (IG) gene.]
bipartite_inversion	SO_1000151	[A chromosomal inversion caused by three breaks in the same chromosome; both central segments are inverted in place (i.e., they are not transposed).]
chromosomal_inversion	SO_1000030	[An interchromosomal mutation where a region of the chromosome is inverted with respect to wild type.]
IG_J_gene	SO_0002125	[A joining gene that rearranges at the DNA level and codes the joining region of the variable domain of an immunoglobulin chain.]
cyclic_translocation	SO_1000150	[A chromosomal translocation whereby three breaks occurred in three different chromosomes. The centric segment resulting from the first break listed is joined to the acentric segment resulting from the second, rather than the third.]
renal abscess	SYMP_0000370
pseudogenic_transcript_with_retained_intron	SO_0002115	[A transcript supported by EST and/or mRNA evidence that aligns unambiguously to the pseudogene locus; has retained intronic sequence compared to a reference transcript sequence.]
primary_transcript	SO_0000185	[A transcript that in its initial state requires modification to be functional.]
respiratory paralysis	SYMP_0000371