Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
cystatin-SN measurement	EFO_0008106	[quantification of the amount of cystatin-SN in a sample]
absence of fingerprints-congenital milia syndrome	MONDO_0007507	[Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.]
thickened earlobes-conductive deafness syndrome	MONDO_0007504	[Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.]
contactin-2 measurement	EFO_0008100	[quantification of the amount of contactin-2 in a sample]
contactin-5 measurement	EFO_0008101	[quantification of the amount of contactin-5 in a sample]
copine-1 measurement	EFO_0008102	[quantification of the amount of copine-1 in a sample]
death-associated protein kinase 2 measurement	EFO_0008107	[quantification of the amount of death-associated protein kinase 2 in a sample]
dermatopontin measurement	EFO_0008108	[quantification of the amount of dermatopontin in a sample]
Dickkopf-related protein 3 measurement	EFO_0008109	[quantification of the amount of Dickkopf-related protein 3 in a sample]
caprylate 8:0 measurement	EFO_0021103	[Quantification of the amount of caprylate 8:0 in a sample.]
caproate 6:0 measurement	EFO_0021102	[Quantification of the amount of caproate 6:0 in a sample.]
laurate 12:0 measurement	EFO_0021105	[Quantification of the amount of laurate 12:0 in a sample.]
Trichiasis	HP_0001128	[Inversion and rubbing of the eyelashes against the globe of the eye.]
heptanoate 7:0 measurement	EFO_0021104	[Quantification of the amount of heptanoate 7:0 in a sample.]
Minicore myopathy	HP_0003789	[Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers.]
caprate 10:0 measurement	EFO_0021101	[Quantification of the amount of caprate 10:0 in a sample.]
5-dodecenoate 12:1n7 measurement	EFO_0021100	[Quantification of the amount of 5-dodecenoate 12:1n7 in a sample.]
gamma-Glu-Val	CHEBI_68848	[A glutamyl-L-amino acid that is the N-(L-gamma-glutamyl) derivative of L-leucine.]
fibroblast growth factor basic measurement	EFO_0008130	[quantification of the amount of fibroblast growth factor basic in a sample]
fibronectin fragment 3 measurement	EFO_0008131	[quantification of the amount of fibronectin Fragment 3 in a sample]