Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Distal myopathy with early respiratory muscle involvement	Orphanet_34521
Stomach Volvulus	EFO_1001852	[Twisting of the STOMACH that may result in gastric ISCHEMIA and GASTRIC OUTLET OBSTRUCTION. It is often associated with DIAPHRAGMATIC HERNIA.]
Congenital muscular dystrophy with integrin alpha-7 deficiency	Orphanet_34520
stomach rupture	EFO_1001851	[Bursting of the STOMACH.]
obsolete_familial primary hypomagnesemia with normocalciuria and normocalcemia	Orphanet_34527
obsolete_lysinuric protein intolerance	Orphanet_470
stomach diverticulum	EFO_1001850	[Saccular, outward protrusion of all or a portion of the wall of the STOMACH.]
obsolete_familial primary hypomagnesemia	Orphanet_34526
study design independent variable	OBI_0000750	[a directive information entity that is part of a study design. Independent variables are entities whose values are selected to determine its relationship to an observed phenomenon (the dependent variable). In such an experiment, an attempt is made to find evidence that the values of the independent variable determine the values of the dependent variable (that which is being measured). The independent variable can be changed as required, and its values do not represent a problem requiring explanation in an analysis, but are taken simply as given. The dependent variable on the other hand, usually cannot be directly controlled]
Autosomal dominant limb-girdle muscular dystrophy type 1E	Orphanet_34517	[Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a limb-girdle muscular dystrophy (LGMD) . ;(see this term) characterized by skeletal/ and cardiac myopathy with cardiac conduction defects and musle cytoplasmic inclusions.]
testicular hydrocele	EFO_1001859	[Accumulation of serous fluid between the layers of membrane (tunica vaginalis) covering the TESTIS in the SCROTUM.]
Tarlov Cysts	EFO_1001858	[Perineurial cysts commonly found in the SACRAL REGION. They arise from the PERINEURIUM membrane within the SPINAL NERVE ROOTS. The distinctive feature of the cysts is the presence of spinal nerve root fibers within the cyst wall, or the cyst cavity itself.]
Takayasu arteritis	EFO_1001857	[A chronic inflammatory process that affects the AORTA and its primary branches, such as the brachiocephalic artery (BRACHIOCEPHALIC TRUNK) and CAROTID ARTERIES. It results in progressive arterial stenosis, occlusion, and aneurysm formation. The pulse in the arm is hard to detect. Patients with aortitis syndrome often exhibit retinopathy., Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.]
predominantly large-vessel vasculitis	MONDO_0015488
Susac Syndrome	EFO_1001856	[A rare disorder consisting of microangiopathy of brain, retina, and inner ear ARTERIOLES. It is characterized by the clinical triad of encephalopathy, BRANCH RETINAL ARTERY OCCLUSION and VERTIGO/hearing loss., Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear.]
Superior Vena Cava Syndrome	EFO_1001855	[A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms.]
Herpesvirus saimiri (strain 11)	NCBITaxon_10383
obsolete_urachal cyst	Orphanet_488
obsolete_Krabbe disease	Orphanet_487	[Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.]
obsolete_autosomal dominant severe congenital neutropenia	Orphanet_486