Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
CHGB cleavage product measurement	EFO_0007910	[quantification of the amount of chromogranin B cleavage product in a sample]
trichohepatoenteric syndrome	MONDO_0009105	[A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.]
glycogen storage disease due to aldolase A deficiency	MONDO_0012747	[Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.]
Donnai-Barrow syndrome	MONDO_0009104	[Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.]
response to tricyclic antidepressant	EFO_0007916	[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 tricyclic antidepressant stimulus]
agreeableness measurement	EFO_0007915	[quantification of agreeableness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)]
openness measurement	EFO_0007914	[quantification of openness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)]
extraversion measurement	EFO_0007913	[quantification of extraversion, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)]
extraversion	EFO_0004317	[A state in which attention is largely directed outward from the self.]
insulin-resistance syndrome type A	MONDO_0012520	[Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.]
herpes simplex encephalitis	MONDO_0012521	[Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.]
corticosterone methyloxidase type 2 deficiency	MONDO_0012524
familial hyperreninemic hypoaldosteronism type 1	MONDO_0020489
Sea-blue histiocytosis	Orphanet_158029	[Sea-blue histiocytosis is a cutaneous condition that may occur as a familial inherited syndrome or as an acquired secondary or systemic infiltrative process. ]
ATC Code L Antineoplastic and immunomodulating agents	EFO_0005641	[Classification of drugs comprising preparations used in the treatment of malignant neoplastic diseases, and immunomodulating agents.]
ATC Classification System	EFO_0005634	[The Anatomical Therapeutic Chemical (ATC) Classification System is used for the classification of active ingredients of drugs according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. It is controlled by the World Health Organization Collaborating Centre for Drug Statistics Methodology (WHOCC), and was first published in 1976.]
ATC Code M Musculo-skeletal system	EFO_0005642	[Classification of drugs affecting musculo-sketal system.]
spondyloarthropathy, susceptibility to	MONDO_0024512
ATC Code J Antiinfectives for systemic use	EFO_0005640	[Classification of drugs which are anti inefctive agents.]
ATC Code R Respiratory system	EFO_0005645	[Classification of drugs affecting the respiratory system.]