Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
chromosome 22q11.2 deletion syndrome, distal	MONDO_0012740	[Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.]
response to diclofenac	EFO_0007919	[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 diclofenac stimulus]
response to non-steroidal anti-inflammatory	EFO_0005533	[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 non-steroidal anti-inflammatory.]
response to anti-tuberculosis drug	EFO_0007918	[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 anti-tuberculosis drug stimulus]
Hyperglycinuria	HP_0003108	[An increased concentration of glycine in the urine.]
response to tetracyclic antidepressant	EFO_0007917	[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 tetracyclic antidepressant stimulus]
L-proline betaine	CHEBI_35280	[An amino acid betaine that is L-proline zwitterion in which both of the hydrogens attached to the nitrogen are replaced by methyl groups.]
obsolete_Stimmler syndrome	Orphanet_3199
obsolete_hereditary hyperekplexia	Orphanet_3197
Steroid dehydrogenase deficiency - dental anomalies	Orphanet_3196
response to terbinafine	EFO_0007923	[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 terbinafine stimulus. Terbinafine is an antifungal medication used to treat ringworm, pityriasis versicolor, and fungal nail infections.]
long QT syndrome 10	MONDO_0012737	[Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene.]
response to sulfonylurea	EFO_0007922	[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 sulfonyurea stimulus. Sulfonylureas are a class of organic compounds used in medicine and agriculture. They are antidiabetic drugs widely used in the management of diabetes mellitus type.]
obsolete_intermediate DEND syndrome	Orphanet_99989
long QT syndrome 11	MONDO_0012738	[Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene.]
response to nitrofurantoin	EFO_0007921	[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 nitrofurantoin stimulus. Nitrofurantoin is an antibiotic used to treat bladder infections.]
Escherichia coli BL21(DE3)	NCBITaxon_469008
response to fluoroquinolones	EFO_0007920	[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 fluoroquinolone stimulus. Fluoroquinolones are broad-spectrum antibiotics (effective for both gram-negative and gram-positive bacteria) that play an important role in treatment of serious bacterial infections, especially hospital-acquired infections and others in which resistance to older antibacterial classes is suspected.]
schizophrenia symptom severity measurement	EFO_0007927	[quantification of the severity of schizophrenia symptoms, for example as a result of treatment. Schizophrenia symptom severity can be evaluated via a range of measures, including the the Positive and Negative Syndrome Scale (PANSS), a medical scale used for measuring symptom severity of patients with schizophrenia, the PANSS sub-component PANSS positive Marder factor score and PANSS negative Marder factor score and the Clinical Global Impression – Severity scale (CGI-S), a 7-point scale that requires the clinician to rate the severity of the patient's illness at the time of assessment, relative to the clinician's past experience with patients who have the same diagnosis.]
hyper-inflammatory immune response	EFO_0007926	[extreme pathological inflammatory response of an organism to an infection, for example seen in certain types of leprosy]