Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
vincristine	CHEBI_28445	[A vinca alkaloid that has formula C46H56N4O10.]
Illumina NextSeq 500	EFO_0009173	[The Illumina NextSeq 500 is a benchtop high-throughput sequencing machine developed by Illumina.]
qualitative or quantitative defects of protein SERCA1	MONDO_0016199
response to synacthen	EFO_0009175	[Any process that results in a change in state or activity of a cell or an organism as a result of a synacthen stimulus. Synacthen injection contains the active ingredient tetracosactide, a synthetic version of adrenocorticotrophic hormone (ACTH). It is typically used to test the function of the adrenal glands.]
adrenal suppression measurement	EFO_0009176	[Quantification of the suppression of adrenal gland function, typically following stimulation with adrenocorticotrophic hormone or a synthetic equivalent. Adrenal suppression may occur as a result of primary hypoadrenalism, or secondary to a number of other conditions including tuberculosis, or chronic exposure to corticosteroids.]
response to tyrosine kinase inhibitor	EFO_0009170	[Response to drug that inhibits tyrosine kinases.]
qualitative or quantitative defects of emerin	MONDO_0016196
blood group--lutheran inhibitor	EFO_0009171	[The Lutheran inhibitor blood group phenotype (In(Lu)) is characterized phenotypically by the apparent absence of the Lu antigen (BCAM) on red blood cells during serologic tests, i.e., Lu(a-b-). Phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene.]
inhibitor role	CHEBI_35222	[A substance that diminishes the rate of a chemical reaction.]
thyroxine-binding globulin measurement	EFO_0009172	[Is a quantification of thyroxine-binding globulin. Inherited abnormalities in the level of serum TBG have been classified as complete deficiency (TBG-CD), partial deficiency (TBG-PD), and excess (TBG-E). Patients are euthyroid (summary by Mori et al., 1995).]
qualitative or quantitative defects of plectin	MONDO_0016198
qualitative or quantitative defects of telethonin	MONDO_0016192
spondyloepiphyseal dysplasia, Kondo-Fu type	EFO_0010168	[A disorder characterized by severely retarded growth, spondyloepiphyseal dysplasia, reduced bone mineral density, and markedly elevated plasma levels of various lysosomal enzymes. Additional features include pectus carinatum, kyphosis, a waddling gait, brachydactyly and dysmorphic facial features. SEDKF transmission pattern is consistent with autosomal recessive inheritance.]
qualitative or quantitative defects of alpha-actin	MONDO_0016193
qualitative or quantitative defects of nebulin	MONDO_0016194
Warburg-Cinotti syndrome	EFO_0010166	[An autosomal dominant disease characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acro-osteolysis.]
myopic maculopathy severity measurement	EFO_0009177	[Quantification of the severity of myopic maculopathy]
squalene synthase deficiency	EFO_0010167	[An autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, facial dysmorphisms, low total and LDL-cholesterol, and abnormal urine organic acids.]
neurofilament light chain measurement	EFO_0009178	[Quantification of the levels of neurofilament light chain, typically in blood or cerebrospinal fluid. Used as a marker of neurodegeneration, in Alzheimer's disease, Amyotrophic Lateral Sclerosis, multiple sclerosis and Huntington's disease.]
multiple sclerosis	MONDO_0005301	[A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers.]