Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete lentiginosis profusa	DOID_0050531
dicistronic_mRNA	SO_0000716	[An mRNA that has the quality dicistronic.]
intermediate spinal muscular atrophy	DOID_0050530	[A survival motor neuron spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure that typically presents in infancy and drastically reduces length of life, has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.]
nucleotide_motif	SO_0000714	[A region of nucleotide sequence corresponding to a known motif.]
Strongylida	NCBITaxon_6308
sequence_motif	SO_0001683	[A sequence motif is a nucleotide or amino-acid sequence pattern that may have biological significance.]
gene_with_transcript_with_translational_frameshift	SO_0000712	[A gene encoding a transcript that has a translational frameshift.]
gene_with_mRNA_recoded_by_translational_bypass	SO_0000711	[A gene with mRNA recoded by translational bypass.]
gene_with_stop_codon_redefined_as_selenocysteine	SO_0000710	[A gene encoding an mRNA that has the stop codon redefined as selenocysteine.]
Chromadorea	NCBITaxon_119089
obsolete soldiers heart	DOID_0050533
obsolete epidermal nevus	DOID_0050532
congenital stationary night blindness	DOID_0050534	[A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves.]
posterior polar cataract	DOID_0050537	[A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule.]
SC phocomelia syndrome	DOID_0050536	[A syndrome that is characterized by severe prenatal growth retardation resulting in malformation of the bones in the skull, face and limbs, has_material_basis_in the mutation in the ESCO2 gene.]
SL2_acceptor_site	SO_0000709	[A trans_splicing_acceptor_site which appends the 22nt SL2 RNA leader sequence to the 5' end of mRNAs. SL2 acceptor sites occur in genes in internal segments of polycistronic transcripts.]
trans_splice_acceptor_site	SO_0000706	[The 3' splice site of the acceptor primary transcript.]
SL1_acceptor_site	SO_0000708	[A trans_splicing_acceptor_site which appends the 22nt SL1 RNA leader sequence to the 5' end of most mRNAs.]
trans_splice_donor_site	SO_0000707	[The 5' five prime splice site region of the donor RNA.]
trans_splice_site	SO_0001420	[Primary transcript region bordering trans-splice junction.]