Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
incomplete_transcript_exonic_variant	SO_0002080	[A sequence variant that intersects the exon of an incompletely annotated transcript.]
incomplete_transcript_variant	SO_0002075	[A sequence variant that intersects an incompletely annotated transcript.]
metal atom	CHEBI_33521	[An atom of an element that exhibits typical metallic properties, being typically shiny, with high electrical and thermal conductivity.]
atom	CHEBI_33250	[A chemical entity constituting the smallest component of an element having the chemical properties of the element.]
incomplete_transcript_CDS	SO_0002081	[A sequence variant that intersects the coding regions of an incompletely annotated transcript.]
amaurosis fugax	SYMP_0000415
amaurosis	SYMP_0000416
incomplete_transcript_coding_splice_variant	SO_0002082	[A sequence variant that intersects the coding sequence near a splice region of an incompletely annotated transcript.]
incomplete_transcript_splice_region_variant	SO_0002079	[A sequence variant that intersects the splice region of an incompletely annotated transcript.]
loss of vision	SYMP_0000321
2KB_downstream_variant	SO_0002083	[A sequence variant located within 2KB 3' of a gene.]
downstream_gene_variant	SO_0001632	[A sequence variant located 3' of a gene.]
catatonia	SYMP_0000413	[Catatonia is a neurological and physiological symptom characterized by a marked psychomotor disturbance that may involve stupor or mutism, negativism, rigidity, purposeless excitement, echolalia, echopraxia, and inappropriate or bizarre posturing and is associated with various medical conditions (as schizophrenia and mood disorders).]
exonic_splice_region_variant	SO_0002084	[A sequence variant in which a change has occurred within the exonic region of the splice site, 1-2 bases from boundary.]
splice_region_variant	SO_0001630	[A sequence variant in which a change has occurred within the region of the splice site, either within 1-3 bases of the exon or 3-8 bases of the intron.]
dysarthria	SYMP_0000414	[Dysarthria is a neurological and physiological symptom characterized by a difficulty in articulating words due to disease of the central nervous system.]
unidirectional_gene_fusion	SO_0002085	[A sequence variant whereby two genes, on the same strand have become joined.]
gene_fusion	SO_0001565	[A sequence variant whereby a two genes have become joined.]
bidirectional_gene_fusion	SO_0002086	[A sequence variant whereby two genes, on alternate strands have become joined.]
pseudogenic_CDS	SO_0002087	[A non functional descendant of the coding portion of a coding transcript, part of a pseudogene.]