Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
HUES53	EFO_0007085	[Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, TRA1-60, TRA1-81 and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium.]
HUES49	EFO_0007084	[Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium.]
HUES48	EFO_0007083	[Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-81. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium.]
HUES64	EFO_0007089	[Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium.]
HUES63	EFO_0007088	[Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium.]
HUES62	EFO_0007087	[Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium.]
ventricular tachycardia, familial	MONDO_0008648	[An instance of ventricular tachycardia that is caused by an inherited modification of the individual's genome.]
ventricular tachycardia	EFO_0005306	[A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)]
genetic cardiac rhythm disease	MONDO_0015110	[An instance of cardiac rhythm disease that is caused by a modification of the individual's genome.]
obsolete long QT syndrome 1	MONDO_0008646
ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome	MONDO_0008645	[This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence.]
VACTERL/vater association	MONDO_0008642	[VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.]
retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	MONDO_0008641	[An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.]
disease of glomerular basement membrane	MONDO_0019723
retinal vascular disorder	MONDO_0002311	[Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage.]
cerebral small vessel disease	EFO_0008493	[Cerebral small vessel disease is the term currently used to pathological processes that affect the brain parenchymal circulation (arterioles, capillaries, and veins). It is a major contributor to stroke, and a leading cause of cognitive impairment and dementia.]
type 1 interferonopathy	MONDO_0018782
Ciona intestinalis	NCBITaxon_7719
phosphatidylcholine 18:1 measurement	EFO_0020046	[The quantification of phosphatidylcholine 18:1 levels in a sample, typically blood ]
phosphatidate measurement	EFO_0020047	[The quantification of phosphatidate levels in a sample, typically blood ]