Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
peritoneal mesothelioma	DOID_1788	[A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum.]
adrenal rest tumor	DOID_1786
pontocerebellar hypoplasia type 10	DOID_0060279	[A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene.]
pontocerebellar hypoplasia	DOID_0060264	[A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum.]
pontocerebellar hypoplasia type 9	DOID_0060278	[A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene.]
paired_end_fragment	SO_0001790	[An assembly region that has been sequenced from both ends resulting in a read_pair (mate_pair).]
gene_with_trans_spliced_transcript	SO_0000459	[A gene with a transcript that is trans-spliced.]
D_gene_segment	SO_0000458	[Germline genomic DNA including D-region with 5' UTR and 3' UTR, also designated as D-segment.]
vertebrate_immunoglobulin_T_cell_receptor_segment	SO_0000460
accessory nerve disease	DOID_339
non_coding_transcript_exon_variant	SO_0001792	[A sequence variant that changes non-coding exon sequence in a non-coding transcript.]
interchromosomal_duplication	SO_0000457	[A chromosome duplication involving an insertion from another chromosome.]
clone_end	SO_0001793	[A read from an end of the clone sequence.]
point_centromere	SO_0001794	[A point centromere is a relatively small centromere (about 125 bp DNA) in discrete sequence, found in some yeast including S. cerevisiae.]
gene_with_mRNA_with_frameshift	SO_0000455	[A gene that encodes an mRNA with a frameshift.]
regional_centromere	SO_0001795	[A regional centromere is a large modular centromere found in fission yeast and higher eukaryotes. It consist of a central core region flanked by inverted inner and outer repeat regions.]
rasiRNA	SO_0000454	[A 17-28-nt, small interfering RNA derived from transcripts of repetitive elements.]
decayed_exon	SO_0000464	[A non-functional descendant of an exon.]
histrionic personality disorder	DOID_334	[A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood.]
loss_of_heterozygosity	SO_0001786	[A functional variant whereby the sequence alteration causes a loss of function of one allele of a gene.]