Terminology Service < Semantic Lookup Platform

All terms in BAO

Label	Id	Description
deleted	BAO_0000230	[A quality of the genetic material (DNA or RNA) that harbors a change (mutation), where one or more nucleotides are lost (spontaneously) or removed (intentionally).]
mutated	BAO_0000643	[Mutation is any alteration in a gene, which may be disease causing or a normal variant. Mutations are introduced into the genes and subsequently, introduced into cells for expression. Different types of mutations include missense, nonsense, deletions, insertions, etc.]
centronuclear myopathy	DOID_14717	[A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.]
myopathy	DOID_423	[A muscular disease in which the muscle fibers do not function resulting in muscular weakness.]
G-protein coupled receptor signaling	BAO_0002890
cAMP-mediated	BAO_0002891
second messenger competitive binding assessment method	BAO_0002892
modification method	BAO_0002197
Tumor necrosis factor	BAO_0000236
beta-ketothiolase deficiency	DOID_14723
autosomal dominant microcephaly	DOID_14725
transferase	BAO_0000292	[Transfer of a functional group from one substance to another. The group may be methyl-, acyl-, amino- or phosphate group.]
enzyme	BAO_0000279	[Enzymes are biological catalysts involved in important pathways that allow chemical reactions to occur at higher rates (velocities) than would be possible without the enzyme. Enzymes are generally globular proteins that have one or more substrate binding sites.]
lyase	BAO_0000290	[Non-hydrolytic addition or removal of groups from substrates. C-C, C-N, C-O or C-S bonds may be cleaved.]
interstitial lung disease	DOID_3082
ligase	BAO_0000289	[Join together two molecules by synthesis of new C-O, C-S, C-N or C-C bonds with simultaneous breakdown of ATP.]
chronic obstructive pulmonary disease	DOID_3083
obstructive lung disease	DOID_2320
isomerase	BAO_0000288	[Intramolecule rearrangement, i.e. isomerization changes within a single molecule.]
nuclear receptor	BAO_0000286	[Nuclear receptors are localized in the cytosol and mediate the activity of hormones and certain vitamins. They are all transcription factors, which upon activation by ligand binding, translocate to the nucleus, bind specific DNA sequence and activate gene expression.]