Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
transitional cell neoplasm	MONDO_0037254
mucinous neoplasm	MONDO_0024338
platelet-type bleeding disorder 8	MONDO_0012354	[P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.]
combined immunodeficiency due to partial RAG1 deficiency	MONDO_0012359	[A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.]
Escherichia coli CFT073	NCBITaxon_199310
EEG with generalized slow activity	HP_0010845	[Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).]
EEG with abnormally slow frequencies	HP_0011203	[EEG with abnormally slow frequencies.]
zygodactyly type 1	MONDO_0012351
response to bronchodilator	GO_0097366	[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 stimulus with a bronchodilator agent. (CHEBI:35523 bronchodilator agent)]
tumor necrosis factor-alpha	EFO_0003271	[Tumor necrosis factor (TNF, cachexin or cachectin formerly known as tumor necrosis factor-alpha or TNF-α) is a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well.]
cytokine	EFO_0003786
cytokine role	EFO_0003787
disorder of glycosylation	MONDO_0024322	[A disease that has its basis in the disruption of glycosylation.]
Multifocal epileptiform discharges	HP_0010841	[An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci).]
vascular endothelial growth factor	EFO_0003276	[Vascular endothelial growth factor (VEGF) is a signal protein produced by cells that stimulates vasculogenesis and angiogenesis. It is part of the system that restores the oxygen supply to tissues when blood circulation is inadequate. Serum concentration of VEGF is high in bronchial asthma and low in diabetes mellitus. VEGF's normal function is to create new blood vessels during embryonic development, new blood vessels after injury, muscle following exercise, and new vessels (collateral circulation) to bypass blocked vessels. When VEGF is overexpressed, it can contribute to disease. Solid cancers cannot grow beyond a limited size without an adequate blood supply; cancers that can express VEGF are able to grow and metastasize. Overexpression of VEGF can cause vascular disease in the retina of the eye and other parts of the body. Drugs such as bevacizumab can inhibit VEGF and control or slow those diseases. VEGF is a sub-family of growth factors, to be specific, the platelet-derived growth factor family of cystine-knot growth factors. They are important signaling proteins involved in both vasculogenesis (the de novo formation of the embryonic circulatory system) and angiogenesis (the growth of blood vessels from pre-existing vasculature).]
Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency	Orphanet_352577
aminoacylase 1 deficiency	MONDO_0012368	[Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.]
inborn aminoacylase deficiency	MONDO_0017686	[An acquired metabolic disease that is has its basis in the disruption of aminoacylase activity.]
retinitis pigmentosa 32	MONDO_0012363	[A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3.]
hypochromic microcytic anemia	MONDO_0000387	[Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic).]