Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
susceptibility to childhood absence epilepsy 5	OMIM_612269
childhood absence epilepsy	DOID_1825	[A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years.]
T_to_A_transversion	SO_1000021	[A transversion from T to A.]
pyrimidine_to_purine_transversion	SO_1000018	[Change of a pyrimidine nucleotide, C or T, into a purine nucleotide, A or G.]
C_to_G_transversion	SO_1000020
transversion	SO_1000017	[Change of a pyrimidine nucleotide, C or T, into a purine nucleotide, A or G, or vice versa.]
T_to_G_transversion	SO_1000022	[A transversion from T to G.]
presence_absence_variation	SO_0002210	[A variation qualifying the presence of a sequence in a genome which is entirely missing in another genome.]
circular_plasmid	SO_0002211	[A self replicating circular nucleic acid molecule that is distinct from a chromosome in the organism.]
plasmid	SO_0000155	[A self replicating, using the hosts cellular machinery, often circular nucleic acid molecule that is distinct from a chromosome in the organism.]
linear_plasmid	SO_0002212	[A self replicating linear nucleic acid molecule that is distinct from a chromosome in the organism. They are capped by terminal proteins covalently bound to the 5' ends of the DNA.]
transcription_termination_signal	SO_0002213	[Termination signal preferentially observed downstream of polyadenylation signal]
eukaryotic_terminator	SO_0000951
fixed dilated pupils	SYMP_0000282
replication_start_site	SO_0002203	[A nucleotide site from which replication initiates.]
facial paralysis	SYMP_0000283
nucleotide_cleavage_site	SO_0002204	[A point in nucleic acid where a cleavage event occurs.]
extreme fatigue	SYMP_0000280
response_element	SO_0002205	[A regulatory element that acts in response to a stimulus, usually via transcription factor binding.]
eye discharge	SYMP_0000281