Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
leaf vascular tissue	EFO_0001037
vascular tissue	PO_0009015	[The supportive and conductive tissue in plants, consisting of xylem and phloem.]
obsolete_stomatal complex	EFO_0001038
seedhead	EFO_0001039
obsolete_functional neutrophil defect	Orphanet_183681
glyphosate	CHEBI_27744	[A phosphonic acid that has formula C3H8NO5P., This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade.]
3-hydroxyanthranilic acid	CHEBI_15793	[An aminobenzoic acid that is benzoic acid substituted at C-2 by an amine group and at C-3 by a hydroxy group. It is an intermediate in the metabolism of the amino acid tryptophan.]
autoimmune disorder of gastrointestinal tract	MONDO_0000588	[A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system.]
Human herpesvirus 5 strain Towne	NCBITaxon_10363
Down syndrome	EFO_0001064	[A disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia), A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include intellectual disability, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome. --2004, Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects., A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe intellectual disability. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)]
experimental autoimmune encephalomyelitis	EFO_0001066	[An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5), An autoimmune demyelinating disease of the central nervous system that is produced experimentally in animals by the injection of homogenized brain or spinal cord in Freund's adjuvant. Myelin basic protein appears to be the antigen that elicits the hypersensitivity immune response which is characterized by focal areas of lymphocyte and macrophage infiltration into the brain, associated with demyelination and destruction of the blood-brain barrier. Experimental allergic encephalomyelitis (EAE) is used as an animal model for demyelinating diseases of the human central nervous system such as multiple sclerosis.]
Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy	Orphanet_217591
erythrocyte disorder	MONDO_0044347	[A disease or disorder that involves the erythrocyte.]
erythrocyte	CL_0000232	[A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen.]
Syndrome associated with hypertrophic cardiomyopathy	Orphanet_217595
kidney benign neoplasm	MONDO_0002513	[A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis.]
obsolete_stamen	EFO_0001050	[The floral organ that produces pollen; consisting of an anther and filament.]
obsolete_carpel	EFO_0001051	[The female reproductive part of a flower, consisting of stigma, style, and ovary.]
obsolete_plant ovary	EFO_0001052	[The enlarged rounded usually basal portion of the pistil or gynoecium of an angiospermous plant that bears the ovules and consists of one or more carpels.]
obsolete_stigma	EFO_0001053