Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
C9orf72 mutation status	EFO_0008352	[quantification of the presence or absence of C9orf72 mutations in a tissue sample or an individual]
cellular adhesion molecule measurement	EFO_0008353	[quantification of the amount cellular adhesion molecule in a sample]
dietary heme iron intake measurement	EFO_0008355	[quantification of the amount of heme iron acquired through dietary intake]
Wiedemann-Rautenstrauch syndrome	MONDO_0009910	[Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.]
X-12645 measurement	EFO_0021319	[Quantification of the amount of X-12645 in a sample.]
obsolete_partial trisomy/tetrasomy of the short arm of chromosome 18	Orphanet_262812
Odontomatosis - aortae esophagus stenosis	Orphanet_2724
obsolete_odontotrichomelic syndrome	Orphanet_2723
Odonto-onycho dysplasia - alopecia	Orphanet_2722
X-12556 measurement	EFO_0021316	[Quantification of the amount of X-12556 in a sample.]
obsolete_odonto-onycho-dermal dysplasia	Orphanet_2721
X-12544 measurement	EFO_0021315	[Quantification of the amount of X-12544 in a sample.]
X-12644 measurement	EFO_0021318	[Quantification of the amount of X-12644 in a sample.]
X-12627 measurement	EFO_0021317	[Quantification of the amount of X-12627 in a sample.]
X-12465 measurement	EFO_0021312	[Quantification of the amount of X-12465 in a sample.]
Plagiocephaly	HP_0001357	[Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.]
X-12456 measurement	EFO_0021311	[Quantification of the amount of X-12456 in a sample.]
X-12524 measurement	EFO_0021314	[Quantification of the amount of X-12524 in a sample.]
X-12510--2-aminooctanoic acid measurement	EFO_0021313	[Quantification of the amount of X-12510--2-aminooctanoic acid in a sample.]
X-12450 measurement	EFO_0021310	[Quantification of the amount of X-12450 in a sample.]