Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
sick building syndrome	EFO_0007484	[An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building., A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (alveolitis, extrinsic allergic); allergic rhinitis (rhinitis, allergic, perennial); asthma; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992)]
hypersensitivity pneumonitis	MONDO_0017853	[Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized.]
obsolete_sex cord-gonadal stromal tumor	EFO_0007483
pentasomy	MONDO_0700085	[A chromosomal disorder consisting of the presence of three chromosomes of the same type in addition to the normal diploid number.]
EPHB4-associated vascular malformation spectrum	MONDO_0700080	[Any vascular malformation in which the cause of the disease is a variation in the EPHB4 gene.]
vascular malformation	EFO_0006888	[A non-neoplastic disorder that is the result of defects of vascular morphogenesis., A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels.]
tyrosine	CHEBI_18186
sphenoid sinusitis	EFO_0007489	[A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head., An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus.]
sparganosis	EFO_0007488	[A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected., A condition resulting from infection with the second stage larvae of the parasite Spirometra.]
skeletal tuberculosis	EFO_0007487	[An extrapulmonary tuberculosis that results in formation of lesions located_in bone., Tuberculosis of the bones or joints.]
obsolete_mosaic trisomy 12	Orphanet_1698
high affinity cgmp-specific 3',5'-cyclic phosphodiesterase 9a measurement	EFO_0020446	[The determination of the amount of high affinity cgmp-specific 3',5'-cyclic phosphodiesterase 9a in a sample]
Cyanidioschyzon merolae	NCBITaxon_45157
obsolete_trisomy 12p	Orphanet_1699
high affinity immunoglobulin gamma fc receptor i measurement	EFO_0020447	[The determination of the amount of high affinity immunoglobulin gamma fc receptor i in a sample]
GM07348	CLO_0016951	[CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 SNP500 PANEL HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 CEPH/UTAH PEDIGREE 1345]
high affinity nerve growth factor receptor measurement	EFO_0020448	[The determination of the amount of high affinity nerve growth factor receptor in a sample]
high mobility group protein B1 measurement	EFO_0020449	[The determination of the amount of high mobility group protein B1 in a sample]
obsolete_pure or complex X-linked spastic paraplegia	Orphanet_320350
heterogeneous nuclear ribonucleoprotein k measurement	EFO_0020442	[The determination of the amount of heterogeneous nuclear ribonucleoprotein k in a sample]