Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
silicosis	EFO_0007485	[A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles., Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition.]
triacylglycerol 56:9 measurement	EFO_0010436	[The quantification of triacylglycerol 56:9 levels in some body fluid, used as a biomarker for disease.]
triacylglycerol 58:10 measurement	EFO_0010437	[The quantification of triacylglycerol 58:10 levels in some body fluid, used as a biomarker for disease.]
Methylmalonic acidemia with homocystinuria type cblF	Orphanet_79284	[ type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.]
exfoliative dermatitis	EFO_0009456	[The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed) [ MeSH:D003873 ], The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)]
substance-related disorder	MONDO_0002494	[A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs).]
abnormal vascular wound healing	EFO_0009457	[Anomaly in the repair process of damaged blood vessels after injury.]
2-hydroxyglutaric acid measurement	EFO_0010446	[Quantification of 2-hydroxyglutaric acid levels in a sample.]
alcohol use disorder measurement	EFO_0009458	[A quantitative measure of alcohol use disorder, e.g. using the Alcohol Use Disorders Identification Test.]
alcohol dependence	MONDO_0007079	[Physical and psychological dependence on alcohol.]
triacylglycerol 58:9 measurement	EFO_0010443	[The quantification of triacylglycerol 58:9 levels in some body fluid, used as a biomarker for disease.]
Fish-eye disease	Orphanet_79292	[Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.]
triacylglycerol 60:12 measurement	EFO_0010444	[The quantification of triacylglycerol 60:12 levels in some body fluid, used as a biomarker for disease.]
ACPA-positive rheumatoid arthritis	EFO_0009459	[A subtype of rheumatoid arthritis defined by the presence of autoantibodies that are directed against citrullinated peptides and proteins.]
hyperaldosteronism	EFO_0009452	[Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia. [ NCIt:P378 ], Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia.]
triacylglycerol 58:7 measurement	EFO_0010441	[The quantification of triacylglycerol 58:7 levels in some body fluid, used as a biomarker for disease.]
Behr syndrome	MONDO_0008858	[Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient.]
triacylglycerol 58:8 measurement	EFO_0010442	[The quantification of triacylglycerol 58:8 levels in some body fluid, used as a biomarker for disease.]
hemiplegia	EFO_0009453	[Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body., Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body. [ MeSH:D006429 ]]
Beemer-Ertbruggen syndrome	MONDO_0008857	[Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984.]