Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
tuberculous fibrosis of lung	MONDO_0021953	[Scarring of the lung parenchyma caused by pulmonary tuberculosis.]
pulmonary fibrosis	EFO_0009448	[Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause).]
pulmonary tuberculosis	EFO_1000049	[A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss., A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss]
generalized isolated dystonia	MONDO_0018303
generalized dystonia	MONDO_0000476
isolated dystonia	MONDO_0015494	[A dystonia (disease) that is not part of a larger syndrome.]
Pierre Robin syndrome associated with bone disease	Orphanet_138055
ST2 protein measurement	EFO_0010599	[quantification of the amount of ST2 protein in a sample]
NF-kappa-B essential modulator measurement	EFO_0010597	[quantification of the amount of NF-kappa-B essential modulator in a sample]
platelet endothelial cell adhesion molecule measurement	EFO_0010598	[quantification of the amount of platelet endothelial cell adhesion molecule in a sample]
heat shock protein beta-1 measurement	EFO_0010595	[quantification of the amount of heat shock protein beta-1 in a sample]
1-methyladenosine	CHEBI_16020	[A methyladenosine carrying a methyl substituent at position 1.]
monocyte chemotactic protein 1 measurement	EFO_0010596	[quantification of the amount of monocyte chemotactic protein 1 in a sample]
citrullinemia type I	MONDO_0008988	[Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I).]
citrullinemia	MONDO_0015991	[Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency).]
Syndrome associated with Pierre Robin syndrome	Orphanet_138063
cystatin B measurement	EFO_0010593	[quantification of the amount of cystatin B in a sample]
Equisetum arvense	NCBITaxon_3258	[Equisetum arvense, the field horsetail or common horsetail is a herbaceous perennial plant, native throughout the arctic and temperate regions of the northern hemisphere.]
Fms-related tyrosine kinase 3 ligand measurement	EFO_0010594	[quantification of the amount of Fms-related tyrosine kinase 3 ligand in a sample]
matrix metalloproteinase 7 measurement	EFO_0010591	[quantification of the amount of matrix metalloproteinase 7 in a sample]