Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
histidine	CHEBI_27570	[An alpha-amino acid that is propanoic acid bearing an amino substituent at position 2 and a 1H-imidazol-4-yl group at position 3.]
epilepsy, early-onset, with or without developmental delay	EFO_0010739	[Early-onset epilepsy with or without developmental delay (EPEDD) is an autosomal dominant neurologic disorder characterized by the onset of generalized tonic-clonic seizures in the first days, months, or years of life. The severity is highly variable: some patients have normal psychomotor development and normal brain imaging, whereas others may show developmental delay associated with abnormalities on brain imaging.]
autoinflammation with episodic fever and lymphadenopathy	EFO_0010737	[An autosomal dominant immunologic disorder characterized by onset of recurrent episodes of unexplained fever beginning in early infancy. The episodes occur in a cyclic pattern with a frequency of every week or every few weeks and a duration of several days. Patients have accompanying lymphadenopathy, and some may have hepatosplenomegaly. Patient serum shows increased levels of inflammatory cytokines and chemokines, including IL6 and TNF, consistent with abnormal activation of the innate inflammatory system. Treatment with anti-IL6R antibodies may result in clinical improvement.]
retinal dystrophy with leukodystrophy	EFO_0010738	[Retinal dystrophy and leukodystrophy (RDLKD) is a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism. Patients exhibit ataxia and spastic paraparesis as well as developmental delay, and may show facial dysmorphism.]
response to angiotensin receptor blocker	EFO_0010735	[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 an angiotensin receptor blocker.]
cortical surface area measurement	EFO_0010736	[Quantification of the surface area of the cerebral cortex or parts thereof.]
polyunsaturated fatty acid measurement	EFO_0010733	[The determination of the amount of polyunsaturated fatty acids present in a sample.]
protein binding measurement	EFO_0010742	[Quantification of the binding of a protein to another entity, usually another protein, for example using ELISA (enzyme-linked immunosorbent assay).]
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect	Orphanet_330050
sperm measurement	EFO_0010743	[Quantification of some aspect of sperm e.g. sperm density, total sperm count, total motile sperm count]
Diets-Jongmans syndrome	EFO_0010740	[Diets-Jongmans syndrome (DIJOS) is an autosomal dominant disorder characterized by mild to moderately impaired intellectual development with a recognizable facial gestalt.]
nasal brush	EFO_0010741	[A method for sampling of epithelial cells and other effector cells from the nasal mucosa using a small nylon brush which is rotated over the epithelium and soaked and shaken in a small volume of a balanced salt solution.]
autoimmune type 1 diabetes	EFO_0009756	[Autoimmune disease wherein the body's own immune system attacks and destroys the cells within the pancreas that produce insulin.]
Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay	Orphanet_330054
Mitochondrial myopathy	Orphanet_206966
Sordaria macrospora	NCBITaxon_5147
dissociation measurement	EFO_0009750	[Quantification of some aspect of the psychological experience of dissociation. Dissociation in community samples is most commonly measured by the Dissociative Experiences Scale. The DSM-IV considers symptoms such as depersonalization, derealization and psychogenic amnesia to be core features of dissociative disorders. However, in the normal population, dissociative experiences that are not clinically significant are highly prevalent with 60% to 65% of the respondents indicating that they have had some dissociative experiences. The SCID-D is a structured interview used to assess and diagnose dissociation.]
psychological measurement	EFO_0009095	[A measurement of some aspect of human psychology.]
facial asymmetry measurement	EFO_0009751	[Quantification of assymetry of the face.]
visuospatial impairment	EFO_0009752	[Impairment of visuospatial functioning.]