Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
hyper-IgE recurrent infection syndrome 5, autosomal recessive	MONDO_0030069
episodic ataxia, type 9	MONDO_0030064
neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	MONDO_0030063
granulomatous disease, chronic, autosomal recessive, 5	MONDO_0030066
agenesis of corpus callosum, cardiac, ocular, and genital syndrome	MONDO_0030065
extra-ocular muscle	UBERON_0001601	[Skeletal muscle derived from cranial mesoderm and controls eye movements.]
cellular protein modification process	GO_0006464	[ The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications) occurring at the level of an individual cell. Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). ]
coronary artery	UBERON_0001621	[An artery that supplies the myocardium.]
cortisol secretion	GO_0043400	[The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland.]
response to methotrexate	GO_0031427	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a methotrexate (formerly amethopterin) stimulus. Methotrexate is 4-amino-10-methylformic acid, a folic acid analogue that is a potent competitive inhibitor of dihydrofolate reductase. Methotrexate is used in the treatment of cancer, immune diseases, ectopic pregnancy and medical terminations.]
diabetes mellitus, permanent neonatal 4	MONDO_0030089
diabetes mellitus, permanent neonatal 3	MONDO_0030088
diabetes mellitus, permanent neonatal 2	MONDO_0030087
Glycogen storage disease due to acid maltase deficiency, juvenile onset	Orphanet_308573	[Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood.]
Glycogen storage disease due to acid maltase deficiency	Orphanet_365	[Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal.]
aldicarb	CHEBI_2555	[Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression., The oxime carbamate resulting from the addition of 2-methyl-2-(methylsulfanyl)propanaldoxime to methyl isocyanate. A member of the class of oxime carbamate insecticides, aldicarb is a mixture of E and Z isomers; it is not known which isomer is more active.]
protein glycosylation	GO_0006486	[ A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. ]
macromolecule glycosylation	GO_0043413	[ The covalent attachment of a glycosyl residue to one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule. ]
protein N-linked glycosylation	GO_0006487	[ A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan. ]
glycosylation	GO_0070085	[ The covalent attachment of a glycosyl residue to a substrate molecule. ]