Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
maternal phenylketonuria	MONDO_0016366	[Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.]
teratogenic Pierre Robin syndrome	MONDO_0015323
marcothrombocytopenia with mitral valve insufficiency	MONDO_0016360	[Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.]
isolated hereditary giant platelet disorder	MONDO_0016361
classic or attenuated familial adenomatous polyposis	MONDO_0021057	[An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP.]
chitosan	CHEBI_16261
mite infestation	MONDO_0004389	[Infestations with arthropods of the subclass acari, superorder Acariformes.]
uterine corpus atypical polypoid adenomyoma	MONDO_0004386	[An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision.]
atypical polypoid adenomyoma	MONDO_0003236	[An adenomyoma characterized by the presence of marked glandular architectural complexity.]
adenomyoma of uterine corpus	MONDO_0003237	[A usually polypoid, benign neoplasm that arises from the uterine corpus. It is characterized by the presence of benign epithelial glands embedded in benign fibromyomatous tissue.]
intracranial hemorrhage	EFO_0000551	[Bleeding within the cranium., Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces.]
brain blood vessel	UBERON_0003499	[A blood vessel that is part of a brain [Automatically generated definition].]
invasive breast ductal and lobular carcinoma	EFO_0000552	[An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive.]
invasive lobular carcinoma	EFO_0000553	[An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures.]
lobular breast carcinoma	EFO_0008509	[An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal.]
validation by reverse transcription PCR design	OBI_0001162	[A study design in which checks the accuracy or the quality of the result of an assay by comparing with reverse transcription PCR results., a study design in which checks the accuracy or the quality of the result of an assay by comparing with reverse transcription PCR results]
methodological variation design	EFO_0004669	[A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships.]
irradiate	EFO_0000554	[The process of treating a material with radiation]
irritable bowel syndrome	EFO_0000555	[Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterised by abdominal pain or discomfort and disordered bowel habit (diarrhoea, constipation, or fluctuation between the two)., A disorder with chronic or recurrent colonic symptoms without a clearcut etiology. This condition is characterized by chronic or recurrent ABDOMINAL PAIN, bloating, MUCUS in FECES, and an erratic disturbance of DEFECATION., A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause.]
galactose	CHEBI_28260	[An aldohexose that is the C-4 epimer of glucose.]