Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
feature_variant	SO_0001878	[A sequence variant that falls entirely or partially within a genomic feature.]
internal_guide_sequence	SO_0001016	[A purine-rich sequence in the group I introns which determines the locations of the splice sites in group I intron splicing and has catalytic activity.]
Thickened skin	HP_0001072	[Laminar thickening of skin.]
wobble_base_pair	SO_0001015	[A type of non-canonical base pairing, most commonly between G and U, which is important for the secondary structure of RNAs. It has similar thermodynamic stability to the Watson-Crick pairing. Wobble base pairs only have two hydrogen bonds. Other wobble base pair possibilities are I-A, I-U and I-C.]
base_pair	SO_0000028
polymorphic_sequence_variant	SO_0001025	[A sequence variant that is segregating in one or more natural populations of a species.]
allele	SO_0001023	[An allele is one of a set of coexisting sequence variants of a gene.]
haplotype	SO_0001024	[A haplotype is one of a set of coexisting sequence variants of a haplotype block.]
Abnormality of the renal medulla	HP_0100957	[An abnormality of the medulla of the kidney.]
Abnormal renal morphology	HP_0012210	[Any structural anomaly of the kidney.]
inversion_breakpoint	SO_0001022	[The point within a chromosome where an inversion begins or ends.]
chromosome_breakpoint	SO_0001021	[A chromosomal region that may sustain a double-strand break, resulting in a recombination event.]
Sigmodontinae	NCBITaxon_40141
obsolete early onset breast ovarian cancer syndrome	DOID_5991
indolent systemic mastocytosis	DOID_4660
mast cell	CL_0000097
junction	SO_0000699	[A sequence_feature with an extent of zero.]
internal auditory canal meningioma	DOID_5990
inner ear cancer	DOID_5102	[An ear cancer located_in the inner ear.]
partial sensory epilepsy	DOID_3330