Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
decreased_transcription_rate_variant	SO_0001552	[A sequence variant that decreases the rate of transcription with respect to a reference sequence.]
asparagine_tRNA_primary_transcript	SO_0000213	[A primary transcript encoding asparaginyl tRNA (SO:0000256).]
polycystic kidney disease 3	DOID_0110860	[A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3.]
translational_product_level_variant	SO_0001553	[A functional variant that changes the translational product level with respect to a reference sequence.]
translational_product_function_variant	SO_0001539	[A sequence variant that affects the functioning of a translational product with respect to a reference sequence.]
arginine_tRNA_primary_transcript	SO_0000212	[A primary transcript encoding arginyl tRNA (SO:0000255).]
Abnormality of forebrain morphology	HP_0100547	[An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.]
obsolete Hodgkin's lymphoma, nodular sclerosis, involving intra-abdominal lymph nodes	DOID_9025
lysine_tRNA_primary_transcript	SO_0000222	[A primary transcript encoding lysyl tRNA (SO:0000265).]
transcript_processing_variant	SO_0001543	[A sequence variant that affects the post transcriptional processing of a transcript with respect to a reference sequence.]
transcript_function_variant	SO_0001538	[A sequence variant which alters the functioning of a transcript with respect to a reference sequence.]
intestine carcinoma in situ	DOID_9024	[An in situ carcinoma that is located_in the intestine.]
leucine_tRNA_primary_transcript	SO_0000221	[A primary transcript encoding leucyl tRNA (SO:0000264).]
editing_variant	SO_0001544	[A transcript processing variant whereby the process of editing is disrupted with respect to the reference.]
isoleucine_tRNA_primary_transcript	SO_0000220	[A primary transcript encoding isoleucyl tRNA (SO:0000263).]
obsolete heartwater disease	DOID_14090
transcript_stability_variant	SO_0001546	[A variant that changes the stability of a transcript with respect to a reference sequence.]
congenital stationary night blindness 1E	DOID_0110869	[A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12.]
decreased_transcript_stability_variant	SO_0001547	[A sequence variant that decreases transcript stability with respect to a reference sequence.]
renal artery atheroma	DOID_14092