Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
polymorphic_pseudogene_processed_transcript	SO_0002116	[A processed transcript that does not contain a CDS that fullfills annotation criteria and not necessarily functionally non-coding.]
pseudogene_processed_transcript	SO_0002111	[A processed_transcript supported by EST and/or mRNA evidence that aligns unambiguously to a pseudogene locus (i.e. alignment to the pseudogene locus clearly better than alignment to parent locus).]
bipartite_duplication	SO_1000149	[An interchromosomal mutation whereby the (large) region between the first two breaks listed is lost, and the two flanking segments (one of them centric) are joined as a translocation to the free ends resulting from the third break.]
intrachromosomal_duplication	SO_1000038	[A duplication that occurred within a chromosome.]
NMD_polymorphic_pseudogene_transcript	SO_0002118	[A polymorphic pseudogene transcript that contains a CDS but has one or more splice junctions >50bp downstream of stop codon. Premature stop codon is not introduced, directly or indirectly, as a result of the variation i.e. must be present in both protein_coding and pseudogenic alleles.]
NMD_transcript	SO_0002114	[A protein coding transcript that contains a CDS but has one or more splice junctions >50bp downstream of stop codon, making it susceptible to nonsense mediated decay.]
allelic_frequency	SO_0002119	[A physical quality which inheres to the allele by virtue of the number instances of the allele within a population. This is the relative frequency of the allele at a given locus in a population.]
variant_frequency	SO_0001763	[A physical quality which inheres to the variant by virtue of the number instances of the variant within a population.]
juvenile myoclonic epilepsy	DOID_4890	[A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years.]
adolescence-adult electroclinical syndrome	DOID_0050705	[An electroclinical syndrome with onset in adolescence and adulthood.]
free_ring_duplication	SO_1000145	[A ring chromosome which is a copy of another chromosome.]
ring_chromosome	SO_1000045	[A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome.]
free_duplication	SO_1000144	[A chromosome structure variation whereby the duplicated sequences are carried as a free centric element.]
obsolete hemophilia	DOID_2230
middle ear carcinoma	DOID_4893	[A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.]
middle ear cancer	DOID_5099	[An ear cancer that is located_in the middle ear.]
inversion_cum_translocation	SO_1000148	[A chromosomal translocation whereby the first two breaks are in the same chromosome, and the region between them is rejoined in inverted order to the other side of the first break, such that both sides of break one are present on the same chromosome. The remaining free ends are joined as a translocation with those resulting from the third break.]
middle ear adenocarcinoma	DOID_4892	[A middle ear carcinoma that derives_from epithelial cells of glandular origin.]
factor XII deficiency	DOID_2231	[An inherited blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33.]
deficient_translocation	SO_1000147	[A chromosomal deletion whereby a translocation occurs in which one of the four broken ends loses a segment before re-joining.]