Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
bidirectional_promoter_lncRNA	SO_0002185	[A non-coding locus that originates from within the promoter region of a protein-coding gene, with transcription proceeding in the opposite direction on the other strand.]
mutational_hotspot	SO_0002186	[A region of genomic sequence known to undergo mutational events with greater frequency than expected by chance.]
HERV_insertion	SO_0002187	[An insertion of sequence from the HERV family of mobile elements with respect to a reference.]
functional_gene_region	SO_0002188	[A gene_member_region that encodes sequence that directly contributes to the molecular function of its gene or gene product.]
allelic_pseudogene	SO_0002189	[A (unitary) pseudogene that is stable in the population but importantly it has a functional alternative allele also in the population. i.e., one strain may have the gene, another strain may have the pseudogene. MHC haplotypes have allelic pseudogenes.]
unitary_pseudogene	SO_0001759	[A pseudogene, deactivated from original state by mutation, fixed in a population,where the ortholog in a reference species such as mouse remains functional.]
oligogenic inheritance	GENO_0000931	[A multifactorial inheritance pattern that is determined by the simultaneous action of alleles in few genes.]
digenic inheritance	GENO_0000930	[A multifactorial inheritance pattern that is determined by the simultaneous action of alleles in two genes.]
Abnormal globe morphology	HP_0012374	[An anomaly of the eyeball.]
Abnormal eye morphology	HP_0012372	[A structural anomaly of the eye.]
leptospirosis	DOID_2297	[A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly.]
joint symptom	SYMP_0000312
inflamed eyes	SYMP_0000310
intestinal hypermotility	SYMP_0000311
Abnormal eye physiology	HP_0012373	[A functional anomaly of the eye.]
Abnormality of the eye	HP_0000478	[Any abnormality of the eye, including location, spacing, and intraocular abnormalities.]
Human immunodeficiency virus 2	NCBITaxon_11709
tetanic convulsion	SYMP_0000327
mild tetanic convulsion	SYMP_0000328
splice_donor_region_variant	SO_0002170	[A sequence variant that falls in the region between the 3rd and 6th base after splice junction (5' end of intron).]