Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
acquired hemoglobinopathy	MONDO_0044349	[An instance of hemoglobinopathy that is acquired during the lifetime of the individual.]
immune-mediated acquired neuromuscular junction disease	MONDO_0018743
acquired neuromuscular junction disease	MONDO_0020125	[An instance of neuromuscular junction disease that is acquired during the lifetime of the individual.]
obsolete_Tessier number 5 facial cleft	Orphanet_141261
Populus trichocarpa x Populus deltoides	NCBITaxon_3695
Populus deltoides	NCBITaxon_3696
obsolete_lateral facial cleft	Orphanet_141269
metabolomic profiling	EFO_0000752	[An assay in which one or more metabolites are analysed.]
microRNA profiling by array	EFO_0000753	[An assay in which a microRNA array is used to analyse the microRNA component of the transcriptome.]
obsolete_re-sequencing	EFO_0000754	[An experiment in which re-sequencing technology (Solexa/454) is used to generate sequence which can be used to determine nucleic acid sequence, analyse the transcibed regions of the genome, or to quantitate transcript abundance]
obsolete_Tessier number 6 facial cleft	Orphanet_141265
obsolete_colorectal carcinoma	EFO_0000755
vitamin B12 deficiency	EFO_0000734	[A disease characterized by low serum levels of vitamin B12, either inherited or acquired., A nutritional condition produced by a deficiency of VITAMIN B 12 in the diet, characterized by megaloblastic anemia. Since vitamin B 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin B 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (From Cecil Textbook of Medicine, 19th ed, p848)]
vitamin deficiency	EFO_0005878	[A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency.]
washing	EFO_0000735	[The process of applying a solvent (e.g. water) or some solution (e.g. SSC/SDS) to a BioMaterial or an array to remove impurities or unwanted compounds.]
well-differentiated liposarcoma	EFO_0000736	[A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation.]
well-differentiated sarcoma	EFO_0000737	[Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)]
obsolete_white blood cell	EFO_0000738	[A nucleated cell of the myeloid or lymphoid lineages, found in blood or other tissue.]
familial patent arterial duct	MONDO_0018758	[Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities.]
arterial duct anomaly	MONDO_0019822