Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
no_sequence_alteration	SO_0002073	[A position or feature within a sequence that is identical to the comparable position or feature of a specified reference sequence.]
reticulocytosis	SYMP_0000425
intergenic_1kb_variant	SO_0002074	[A variant that falls in an intergenic region that is 1 kb or less between 2 genes.]
intergenic_variant	SO_0001628	[A sequence variant located in the intergenic region, between genes.]
transcript_variant	SO_0001576	[A sequence variant that changes the structure of the transcript.]
incomplete_transcript_3UTR_variant	SO_0002076	[A sequence variant that intersects the 3' UTR of an incompletely annotated transcript.]
incomplete_transcript_5UTR_variant	SO_0002077	[A sequence variant that intersects the 5' UTR of an incompletely annotated transcript.]
incomplete_transcript_intronic_variant	SO_0002078	[A sequence variant that intersects the intron of an incompletely annotated transcript.]
dyspepsia	SYMP_0000422	[Dyspepsia is a digestive system symptom referred to as indigestion resulting from an impairment to digestion caused by ulcer, gall bladder disease or inflamed colon. Related symptoms include weakness, loss of appetite, and depression.]
pyrosis	SYMP_0000423
bloating	SYMP_0000420	[Bloating is a digestive system symptom involving the accumulation of gas in the digestive tract and resulting in abdominal distension.]
hematochezia	SYMP_0000421
Abnormal joint morphology	HP_0001367	[An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.]
Male pseudohermaphroditism	HP_0000037	[Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.]
Abnormality of male external genitalia	HP_0000032	[An abnormality of male external genitalia.]
heartburn	SYMP_0000439	[Heartburn is a pain characterized by a painful burning feeling in your chest or throat that happens when stomach acid backs up into your esophagus.]
Arthritis	HP_0001369	[Inflammation of a joint.]
earache	SYMP_0000437
Craniosynostosis	HP_0001363	[Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.]
Abnormality of cranial sutures	HP_0011329	[Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.]