Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Wilson disease	DOID_893
Sap1_recognition_motif	SO_0001864	[A DNA motif to which the S. pombe Sap1 protein binds. The consensus sequence is 5'-TARGCAGNTNYAACGMG-3'; it is found at the mating type locus, where it is important for mating type switching, and at replication fork barriers in rDNA repeats.]
CDRE_motif	SO_0001865	[An RNA polymerase II promoter element found in the promoters of genes regulated by calcineurin. The consensus sequence is GNGGCKCA.]
choledochal cyst	DOID_899
BAC_read_contig	SO_0001866	[A contig of BAC reads.]
autosomal dominant polycystic kidney disease	DOID_898	[A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.]
candidate_gene	SO_0001867	[A gene suspected of being involved in the expression of a trait.]
positional_candidate_gene	SO_0001868	[A candidate gene whose association with a trait is based on the gene's location on a chromosome.]
functional_candidate_gene	SO_0001869	[A candidate gene whose function has something in common biologically with the trait under investigation.]
variable age at onset electroclinical syndrome	DOID_0050706
osteoarthritis susceptibility 6	OMIM_612401
osteoarthritis susceptibility 5	OMIM_612400
V_D_DJ_J_C_cluster	SO_0000529	[Genomic DNA of immunoglobulin/T-cell receptor gene in rearranged configuration including at least one V-gene, one D-gene, one DJ-gene, one J-gene and one C-gene.]
V_D_DJ_cluster	SO_0000528	[Genomic DNA of immunoglobulin/T-cell receptor gene in rearranged configuration including at least one V-gene, one D-gene, one DJ-gene.]
V_D_DJ_C_cluster	SO_0000527	[Genomic DNA of immunoglobulin/T-cell receptor gene in rearranged configuration including at least one V-gene, one D-gene, one DJ-gene and one C-gene.]
V_cluster	SO_0000526	[Genomic DNA of immunoglobulin/T-cell receptor gene in germline configuration including more than one V-gene.]
V_VJ_J_cluster	SO_0000525	[Genomic DNA of immunoglobulin/T-cell receptor gene in rearranged configuration including at least one V-gene, one VJ-gene and one J-gene.]
obsolete inborn metabolic brain disease	DOID_889
V_VJ_cluster	SO_0000524	[Genomic DNA of immunoglobulin/T-cell receptor gene in rearranged configuration including at least one V-gene and one VJ-gene.]
Aves	NCBITaxon_8782