Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
nonamer_of_recombination_feature_of_vertebrate_immune_system_gene	SO_0000562
vertebrate_immune_system_gene_recombination_signal_feature	SO_0000939
TFBS_translocation	SO_0001885	[A feature translocation where the region contains a transcription factor binding site.]
heptamer_of_recombination_feature_of_vertebrate_immune_system_gene	SO_0000561	[Seven nucleotide recombination site (e.g. CACAGTG), part of V-gene, D-gene or J-gene recombination feature of an immunoglobulin or T-cell receptor gene.]
transcript_fusion	SO_0001886	[A feature fusion where the deletion brings together transcript regions.]
D_J_cluster	SO_0000560	[Genomic DNA of immunoglobulin/T-cell receptor gene in germline configuration including at least one D-gene and one J-gene.]
regulatory_region_fusion	SO_0001887	[A feature fusion where the deletion brings together regulatory regions.]
TFBS_fusion	SO_0001888	[A fusion where the deletion brings together transcription factor binding sites.]
autosomal recessive nonsyndromic deafness 83	DOID_0110528	[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p23-p21.2.]
transcript_amplification	SO_0001889	[A feature amplification of a region containing a transcript.]
autosomal recessive nonsyndromic deafness 84A	DOID_0110529	[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21.]
autosomal recessive nonsyndromic deafness 79	DOID_0110526	[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TPRN gene on chromosome 9q34.]
autosomal recessive nonsyndromic deafness 8	DOID_0110527	[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22.]
obsolete Campylobacter fetus infectious disease	DOID_0050379
obsolete opportunistic Campylobacteraceae infectious disease	DOID_0050378
renal artery obstruction	DOID_2972
female breast lower-inner quadrant cancer	DOID_1649	[A female breast cancer that is located_in the lower-inner quadrant of the breast.]
kidney cortex necrosis	DOID_2973	[A kidney cortex disease that is characterized by death of the tissue in the outer part of the kidney that results from blockage of the small arteries that supply blood to the cortex and that causes acute kidney injury.]
obsolete multicystic dysplastic kidney	DOID_2974
female breast upper-inner quadrant cancer	DOID_1647	[A female breast cancer that is located_in the upper-inner quadrant of the breast.]