Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Congenital generalized hypertrichosis, Ambras type	Orphanet_1023	[Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.]
Eyebrow/eyelashes hypertrichosis	Orphanet_98595
superior crus of antihelix expression	EFO_0007673	[Any measurable or observable characteristic related to the shape and structure of the upper cartilaginous ridge arising at the bifurcation of the antihelix that separates the scapha from the triangular fossa. The superior crus runs in a superior and slightly anterior direction and is usually less sharply folded than the lower portion and inferior crus. ]
crus helix expression	EFO_0007672	[Any measurable or observable characteristic related to the shape and structure of the crus helix, the continuation of the anteroinferior ascending helix, which extends in a posteroinferior direction into the cavity of the concha above the external auditory meatus. The average crus helix extends about one half to two thirds the distance across the concha. ]
Amaurosis - hypertrichosis	Orphanet_1021
folding of antihelix	EFO_0007671	[Any measurable or observable characteristic related to the shape and structure of the antihelix, a Y-shaped curved cartilaginous ridge arising from the antitragus and separating the concha, triangular fossa, and scapha. The antihelix represents a folding of the conchal cartilage and it usually has similar prominence to a well-developed helix. The stem (the part below the bifurcation) of the normal antihelix is gently curved and branches about two thirds of the way along its course to form the broad fold of the superior (posterior) antihelical crus, and the more sharply folded inferior (anterior) crus. The inferior and superior crura of the antihelix can vary both in volume and degree of folding.]
helix rolling	EFO_0007670	[Any measurable or observable characteristic related to the shape and structure of the helix, the outer rim of the ear. The border of the helix usually forms a rolled rim but it is highly variable in shape.]
LDL peak particle diameter measurement	EFO_0007677	[peak distance between two specified opposite points on the periphery of blood-derived low-density lipoprotein (LDL) particles]
obsolete_early-onset autosomal dominant Alzheimer disease	Orphanet_1020
response to zileuton	EFO_0007676	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with zileuton, a leukotriene inhibitor used for the maintenance treatment of asthma ]
obsolete_SLC35A2-CDG	Orphanet_356961
metastasis measurement	EFO_0007675	[quantification of some aspect of cancer metastases, incl presence/abscence, size, location or origin]
Darwin's tubercule	EFO_0007674	[a congenital ear condition which often presents as a thickening on the helix at the junction of the upper and middle thirds.]
long non polyA RNA	EFO_0005018	[A fractionylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)]
non polyA RNA	EFO_0005017	[A RNA extract that is the output of an extraction process in which RNA molecules without poly A tail at its 3’ end are purified.]
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform measurement	EFO_0020637	[The determination of the amount of phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform in a sample]
long poly A RNA	EFO_0005019	[A fraction of poly-adenylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)]
polyA RNA	OBI_0000869	[A RNA extract that is the output of an extraction process in which RNA molecules with poly A tail at its 3’ end are purified., A RNA extract that is the output of an extraction process in which RNA molecules with poly A tail at its 3' end are purified.]
phosphoglycerate kinase 1 measurement	EFO_0020638	[The determination of the amount of phosphoglycerate kinase 1 in a sample]
oppositional defiant disorder measurement	EFO_0007679	[quantification of some aspect of oppositional defiant disorder such as irritability or number of temper tantrums, usually assessed by means of standardised questionnaires]