Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
chromosome 10q23 deletion syndrome	DOID_0060389	[A chromosomal gene deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2.]
mRNA_with_plus_2_frameshift	SO_0000329	[An mRNA with a plus 2 frameshift.]
microarray_oligo	SO_0000328
obsolete hereditary neoplastic syndrome	DOID_208
coding_end	SO_0000327	[The last base to be translated into protein. It does not include the stop codon.]
SAGE_tag	SO_0000326	[A short diagnostic sequence tag, serial analysis of gene expression (SAGE), that allows the quantitative and simultaneous analysis of a large number of transcripts.]
rRNA_large_subunit_primary_transcript	SO_0000325	[A primary transcript encoding a large ribosomal subunit RNA.]
RNA_polymerase_II_TATA_box	SO_0001661	[A TATA box core promoter of a gene transcribed by RNA polymerase II.]
RNA_polymerase_III_TATA_box	SO_0001662	[A TATA box core promoter of a gene transcribed by RNA polymerase III.]
coding_start	SO_0000323	[The first base to be translated into protein.]
BREd_motif	SO_0001663	[A core TRNA polymerase II promoter element with consensus (G/A)T(T/G/A)(T/A)(G/T)(T/G)(T/G).]
coding_conserved_region	SO_0000332	[Coding region of sequence similarity by descent from a common ancestor.]
retinoic_acid_responsive_element	SO_0001653	[A transcription factor binding site of variable direct repeats of the sequence PuGGTCA spaced by five nucleotides (DR5) found in the promoters of retinoic acid-responsive genes, to which retinoic acid receptors bind.]
STS	SO_0000331	[Short (typically a few hundred base pairs) DNA sequence that has a single occurrence in a genome and whose location and base sequence are known.]
hereditary multiple exostoses	DOID_206	[An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth.]
nested_tandem_repeat	SO_0001658	[An NTR is a nested repeat of two distinct tandem motifs interspersed with each other.]
nested_repeat	SO_0001649	[A repeat that is disrupted by the insertion of another element.]
chondrodysplasia Blomstrand type	DOID_0060387	[An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene.]
Chilblain lupus	DOID_0060386	[A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene.]
acrofacial dysostosis, Patagonia type	DOID_0060385	[An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance.]