Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Lysosomal disease	Orphanet_68366
Metabolic disease with pigmentary retinitis	Orphanet_98713
Progressive myoclonic epilepsy	Orphanet_98261
obsolete_Disorder of peroxisomal alpha-, beta- and omega-oxidation	Orphanet_309810
Disorder of bilirubin metabolism and excretion	Orphanet_309816
Disorder of porphyrin and haem metabolism	Orphanet_309813
somite 1	UBERON_2000072	[Anteriormost undifferentiated mesodermal component of early trunk segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Kimmel et al, 1995.]
iatrogenic disease	MONDO_0043543	[Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment.]
disease	EFO_0000408	[A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism., A disease is a disposition that describes states of disease associated with a particular sample and/or organism.]
iatrogenic	MONDO_0100426	[A characteristic of a diseae which results from diagnostic and therapeutic procedures undertaken on a patient.]
somite 5	UBERON_2000073	[Undifferentiated mesodermal component of early trunk segment 5 or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Kimmel et al, 1995.]
Dehalococcoides sp. BAV1	NCBITaxon_216389
Rolandic epilepsy	Orphanet_1945
obsolete_myoclonic-astastic epilepsy	Orphanet_1942
nosocomial infection	MONDO_0043544	[An infection acquired in a hospital or other healthcare setting.]
infectious disease	EFO_0005741	[A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact., A disease whose physical basis is an infectious agent]
Shoulder and thorax deformity - congenital heart disease	Orphanet_1940
Genetic syndrome with limb reduction defects	Orphanet_404574
obsolete_juvenile absence epilepsy	Orphanet_1941
EEG abnormality	HP_0002353	[Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.]