Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
benign neoplasm of eye	MONDO_0021454	[A benign neoplasm that involves the eye.]
ES-E14	EFO_0007075	[Mouse embryonic stem cell line E14.]
DND-41	EFO_0007074	[DND-41 was established from the peripheral blood of 13-year-old boy with T-acute lymphoblastic leukemia (T-ALL; type III cortical) in 1977; described to carry CDKN2B (p15INK4B) and CDKN2A (p16INK4A) deletions and TP53 (p53)mutation.]
CyT49	EFO_0007073	[This hESC line was isolated using human feeder cells under good manufacturing process (GMP) conditions. NIH registration: 0041.]
C0202	EFO_0007072	[A B-lymphoblastoid cell line derived from a randomly selected Caucasian blood donor whose parents and grandparents were born in the UK or Ireland. The cell line was generated by Epstein-Barr Virus (EBV) transformation of peripheral blood lymphocytes. This cell line is part of the European Collection of Cell Cultures (ECACC) Human Random Control (HRC) collection.]
HUES28	EFO_0007079	[Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vivo (teratoma). 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, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [PMCID: PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium.]
HUES13	EFO_0007078	[Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. 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 SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium.]
GM06999	EFO_0007077	[Lymphoblastoid cells taken from the blood of a female human.]
ES-I3	EFO_0007076	[The I3 stem cell line was derived from donated blastocysts by removal of the trophoblast layer and further culturing of the intact inner cell mass on mitotically inactivated mouse embryonic fibroblast (MEF) feeder cells. Following injection into SCID mice, the I3 line formed teratomas that contained tissues from all three embryonic germ layers. This line exhibits a normal XX karyotype. These cells were provided by Alex Meissner and maintained in mTeSR medium.]
transcobalamin I deficiency	MONDO_0008659
inborn disorder of cobalamin metabolism and transport	MONDO_0019220
congenital vertical talus	MONDO_0008652	[Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.]
neuronal ceroid-lipofuscinosis, dominant/recessive	EFO_0020039	[Neuronal ceroid lipofuscinoses (NCLs) are a group of dominant/recessive inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.]
posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome	MONDO_0008650	[Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.]
Tall stature	HP_0000098	[A height above that which is expected according to age and gender norms.]
Growth abnormality	HP_0001507
Palmar Fibromatosis	EFO_1000438	[A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males.]
contracture	EFO_0003899	[Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.]
Pancreatic Acinar Cell Carcinoma	EFO_1000439	[An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis.]
pancreatic adenocarcinoma	EFO_1000044	[A carcinoma that arises from glandular epithelial cells of the pancreas]