Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
pontocerebellar hypoplasia type 2A	DOID_0060267	[A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.]
pancreas lymphoma	DOID_1792
peritoneum	UBERON_0002358
random_sequence	SO_0000449	[A sequence of nucleotides or amino acids which, by design, has a "random" order of components, given a predetermined input frequency of these components.]
three_prime_UTR_intron	SO_0000448	[An intron located in the 3' UTR.]
UTR_intron	SO_0000446	[Intron located in the untranslated region.]
five_prime_UTR_intron	SO_0000447	[An intron located in the 5' UTR.]
population_specific_variant	SO_0001780
variant_origin	SO_0001762	[A quality inhering in a variant by virtue of its origin.]
de_novo_variant	SO_0001781
five_prime_noncoding_exon	SO_0000445	[Non-coding exon in the 5' UTR.]
TF_binding_site_variant	SO_0001782	[A sequence variant located within a transcription factor binding site.]
three_prime_noncoding_exon	SO_0000444	[Non-coding exon in the 3' UTR.]
quantitative_variant	SO_0001774
variant_phenotype	SO_0001769	[A quality inhering in a variant by virtue of its phenotype.]
obsolete Human T-lymphotropic virus 1 infectious disease	DOID_323	[A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder.]
maternal_variant	SO_0001775
myelitis	DOID_322	[A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord.]
paternal_variant	SO_0001776
gene_with_polyadenylated_mRNA	SO_0000451	[A gene that encodes a polyadenylated mRNA.]