Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
chromosome_part	SO_0000830	[A region of a chromosome.]
tRNA_encoding	SO_0000663
intron_base_5	SO_0001994	[Fifth intronic position after the intron exon boundary, close to the 5' edge of the intron.]
macronucleus_destined_segment	SO_0000672	[A sequence that is conserved, although rearranged relative to the micronucleus, in the macronucleus of a ciliate genome.]
extended_intronic_splice_region_variant	SO_0001995	[A sequence variant occurring in the intron, within 10 bases of exon.]
internal_eliminated_sequence	SO_0000671	[A sequence eliminated from the genome of ciliates during nuclear differentiation.]
extended_intronic_splice_region	SO_0001996	[Region of intronic sequence within 10 bases of an exon.]
chromosome_breakage_sequence	SO_0000670	[A sequence within the micronuclear DNA of ciliates at which chromosome breakage and telomere addition occurs during nuclear differentiation.]
subtelomere	SO_0001997	[A heterochromatic region of the chromosome, adjacent to the telomere (on the centromeric side) that contains repetitive DNA and sometimes genes and it is transcribed.]
sgRNA	SO_0001998	[A small RNA oligo, typically about 20 bases, that guides the cas nuclease to a target DNA sequence in the CRISPR/cas mutagenesis method.]
obsolete parasitic stramenopiles infectious disease	DOID_0050247	[A parasitic infectious disease that involves infection caused by parasitic members of the taxon stramenopiles, in which the flagellate cells possess two different shaped flagella. This taxon contains both unicellular and multicellular organisms.]
granulomatous amebic encephalitis	DOID_0050246	[A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death.]
obsolete Brugia timori filariasis	DOID_0050249	[A filarial elephantiasis that involves parasitic infection by the nematode Brugia timori, which inhabits the lymphatics. The symptoms include fever and chronic lymphedema.]
acquired polycythemia	DOID_2834
polycythemia due to hypoxia	DOID_2835
stress polycythemia	DOID_2838
erythropoietin polycythemia	DOID_2839
dilated cardiomyopathy 1A	DOID_0110425	[A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.]
dilated cardiomyopathy 1D	DOID_0110426	[A dilated cardiomyopathy that has_material_basis_in mutation in the TNNT2 gene on chromosome 1q32.]
dilated cardiomyopathy 1C	DOID_0110423	[A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2.]