Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
CpG_island	SO_0000307	[Regions of a few hundred to a few thousand bases in vertebrate genomes that are relatively GC and CpG rich; they are typically unmethylated and often found near the 5' ends of genes.]
endo-epithelial cell	CL_0002076
J_gene_recombination_feature	SO_0000302	[Recombination signal including J-heptamer, J-spacer and J-nonamer in 5' of J-region of a J-gene or J-sequence.]
RNase_MRP_RNA_gene	SO_0001640	[A gene that encodes a RNase_MRP_RNA.]
recombination_feature_of_rearranged_gene	SO_0000300
lincRNA_gene	SO_0001641	[A gene that encodes a long, intervening non-coding RNA.]
upstream_gene_variant	SO_0001631	[A sequence variant located 5' of a gene.]
5KB_downstream_variant	SO_0001633	[A sequence variant located within 5 KB of the end of a gene.]
500B_downstream_variant	SO_0001634	[A sequence variant located within a half KB of the end of a gene.]
5KB_upstream_variant	SO_0001635	[A sequence variant located within 5KB 5' of a gene.]
2KB_upstream_variant	SO_0001636	[A sequence variant located within 2KB 5' of a gene.]
rRNA_gene	SO_0001637	[A gene that encodes for ribosomal RNA.]
piRNA_gene	SO_0001638	[A gene that encodes for an piwi associated RNA.]
RNase_P_RNA_gene	SO_0001639	[A gene that encodes an RNase P RNA.]
Sakati-Nyhan syndrome	DOID_0060359	[An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.]
multiple acyl-CoA dehydrogenase deficiency	DOID_0060358	[An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal.]
chylomicron retention disease	DOID_0060357	[A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1.]
Vici syndrome	DOID_0060356	[A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3.]
amyotrophic lateral sclerosis type 22	DOID_0060355	[An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35.]
Generalized seizures	HP_0002197	[Seizures of with initial involvement of both cerebral hemispheres.]