Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Juvenile nephronophthisis	Orphanet_93592
Infantile nephronophthisis	Orphanet_93591
lymphedema	MONDO_0019297	[Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes.]
hemojuvelin measurement	EFO_0008148	[quantification of the amount of hemojuvelin in a sample]
hemopexin measurement	EFO_0008149	[quantification of the amount of hemopexin in a sample]
obsolete_granulocyte-colony stimulating factor measurement	EFO_0008143	[quantification of the amount of granulocyte-colony stimulating factor in a sample]
transient bullous dermolysis of the newborn	MONDO_0007548	[Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.]
granulysin measurement	EFO_0008144	[quantification of the amount of granulysin in a sample]
generalized dominant dystrophic epidermolysis bullosa	MONDO_0007549	[Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.]
granzyme A measurement	EFO_0008145	[quantification of the amount of granzyme A in a sample]
obsolete_primary hyperoxaluria type 2	Orphanet_93599
growth-regulated alpha protein measurement	EFO_0008146	[quantification of the amount of growth-regulated alpha protein in a sample]
myrcene	CHEBI_17221	[A monoterpene that has formula C10H16.]
obsolete_primary hyperoxaluria type 1	Orphanet_93598
Camurati-Engelmann disease	MONDO_0007542	[Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.]
undecanoate 11:0 measurement	EFO_0021107	[Quantification of the amount of undecanoate 11:0 in a sample.]
multiple endocrine neoplasia type 1	MONDO_0007540	[Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients.]
pelargonate 9:0 measurement	EFO_0021106	[Quantification of the amount of pelargonate 9:0 in a sample.]
1-oleoylglycerol 1-monoolein measurement	EFO_0021109	[Quantification of the amount of 1-oleoylglycerol 1-monoolein in a sample.]
Exercise-induced myalgia	HP_0003738	[The occurrence of an unusually high amount of muscle pain following exercise.]