Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
pyruvate decarboxylase deficiency	DOID_3649	[A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex.]
vaultRNA_primary_transcript	SO_0002040	[A primary transcript encoding a vaultRNA.]
miR_encoding_vaultRNA_primary_transcript	SO_0002041	[A vaultRNA primary transcript that also encodes pre-miR sequence that is processed to form functionally active miRNA.]
Hypoplastic male external genitalia	HP_0000050	[Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).]
External genital hypoplasia	HP_0003241	[Underdevelopment of part or all of the external reproductive organs.]
Y_RNA_primary_transcript	SO_0002042	[A primary transcript encoding a Y-RNA.]
miR_encoding_Y_RNA_primary_transcript	SO_0002043	[A Y-RNA primary transcript that also encodes pre-miR sequence that is processed to form functionally active miRNA.]
TCS_element	SO_0002044	[A TCS element is a (yeast) transcription factor binding site, bound by the TEA DNA binding domain (DBD) of transcription factors. The consensus site is CATTCC or CATTCT.]
pheromone_response_element	SO_0002045	[A PRE is a (yeast) TFBS with consensus site [TGAAAC(A/G)].]
TF_binding_site	SO_0000235	[A region of a nucleotide molecule that binds a Transcription Factor or Transcription Factor complex [GO:0005667].]
FRE	SO_0002046	[A FRE is an enhancer element necessary and sufficient to confer filamentation associated expression in S. cerevisiae.]
enhancer_binding_site	SO_0001461	[A binding site that, in the enhancer region of a nucleotide molecule, interacts selectively and non-covalently with polypeptide residues.]
transcription_pause_site	SO_0002047	[Transcription pause sites are regions of a gene where RNA polymerase may pause during transcription. The functional role of pausing may be to facilitate factor recruitment, RNA folding, and synchronization with translation. Consensus transcription pause site have been observed in E. coli.]
disabled_reading_frame	SO_0002048	[A reading frame that could encode a full-length protein but which contains obvious mid-sequence disablements (frameshifts or premature stop codons).]
reading_frame	SO_0000717	[A nucleic acid sequence that when read as sequential triplets, has the potential of encoding a sequential string of amino acids. It need not contain the start or stop codon.]
shRNA_primary_transcript	SO_0002038	[A primary transcript encoding an shRNA.]
miR_encoding_shRNA_primary_transcript	SO_0002039	[A shRNA primary transcript that also encodes pre-miR sequence that is processed to form functionally active miRNA.]
Human alphaherpesvirus 2	NCBITaxon_10310
Orthoretrovirinae	NCBITaxon_327045
prosopagnosia	DOID_4970	[An agnosia that results in the loss of the ability to consciously recognize familiar faces.]