Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
GM17816	CLO_0016509	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
digestive duplication	MONDO_0016531
Lennox-Gastaut syndrome	MONDO_0016532	[Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.]
childhood-onset epilepsy syndrome	MONDO_0020072	[A epilepsy syndrome that occurs during childhood.]
childhood electroclinical syndrome	MONDO_0000414	[A electroclinical syndrome that occurs during childhood.]
obsolete_11p15.4 microduplication syndrome	Orphanet_300305
GM17810	CLO_0016502	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17809	CLO_0016501	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17808	CLO_0016504	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17807	CLO_0016503	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17815	CLO_0016506	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17806	CLO_0016505	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17814	CLO_0016508	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
congenital fibrosarcoma	MONDO_0004557	[A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes.]
conventional fibrosarcoma	MONDO_0002677	[A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern.]
pediatric fibrosarcoma	MONDO_0002678	[A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.]
GM17813	CLO_0016507	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
nervousness	NCIT_C74532	[An uneasy psychological state; the anxious feeling you have when you have the jitters.]
GM17812	CLO_0016500	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
primary megaureter, adult-onset form	MONDO_0016549