Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_acrodermatitis enteropathica	Orphanet_37
CD226 antigen measurement	EFO_0020246	[The determination of the amount of CD226 antigen in a sample]
obsolete_Acrokeratoelastoidosis of Costa	Orphanet_38
Hyperlipoproteinemia type 5	Orphanet_70470	[A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I .]
Inherited congenital spastic tetraplegia	Orphanet_210141
CD48 antigen measurement	EFO_0020247	[The determination of the amount of CD48 antigen in a sample]
caspase-2 measurement	EFO_0020240	[The determination of the amount of caspase-2 in a sample]
obsolete_Muscular dystrophy, Selcen type	Orphanet_199340
Epicanthus	HP_0000286	[A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.]
obsolete_congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Orphanet_70472
cathepsin E measurement	EFO_0020241	[The determination of the amount of cathepsin E in a sample]
obsolete_lethal polymalformative syndrome, Boissel type	Orphanet_210144
cathepsin G measurement	EFO_0020242	[The determination of the amount of cathepsin G in a sample]
obsolete_Leigh syndrome with cardiomyopathy	Orphanet_70474
cathepsin H measurement	EFO_0020243	[The determination of the amount of cathepsin H in a sample]
obsolete_EAST syndrome	Orphanet_199343
Facial edema	HP_0000282
Broad face	HP_0000283	[Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).]
Hereditary orotic aciduria	Orphanet_30
obsolete_oxoglutaricaciduria	Orphanet_31