Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Protein R deficiency	Orphanet_2967
Properdin deficiency	Orphanet_2966
Immunodeficiency due to a complement cascade protein anomaly	Orphanet_101992
obsolete_autosomal dominant prognathism	Orphanet_2964
3-Hydroxyhippuric acid (m-Hydroxyhippuricacid) measurement	EFO_0021558	[Quantification of the amount of 3-Hydroxyhippuric acid (m-Hydroxyhippuricacid) in a sample.]
Human adenovirus 7	NCBITaxon_10519
Progeroid syndrome, Petty type	Orphanet_2963
3-Hydroxy-3-methyl butyric acid measurement	EFO_0021557	[Quantification of the amount of 3-Hydroxy-3-methyl butyric acid in a sample.]
obsolete_de Barsy syndrome	Orphanet_2962
3-Indolebutyric acid measurement	EFO_0021559	[Quantification of the amount of 3-Indolebutyric acid in a sample.]
2,3-dimethylsuccinic acid measurement	EFO_0021554	[Quantification of the amount of 2,3-dimethylsuccinic acid in a sample.]
2-Picolinic acid measurement	EFO_0021553	[Quantification of the amount of 2-Picolinic acid in a sample.]
3-(3-hydroxyphenyl) propionate acid measurement	EFO_0021556	[Quantification of the amount of 3-(3-hydroxyphenyl) propionate acid in a sample.]
2,6-Diaminooimelic acid measurement	EFO_0021555	[Quantification of the amount of 2,6-Diaminooimelic acid in a sample.]
2-Hydroxybutanoic acid measurement	EFO_0021550	[Quantification of the amount of 2-Hydroxybutanoic acid in a sample.]
2-Methylsuccinic acid measurement	EFO_0021552	[Quantification of the amount of 2-Methylsuccinic acid in a sample.]
Abnormality of the nail	HP_0001597	[Abnormality of the nail.]
2-Hydroxyisocaproic acid measurement	EFO_0021551	[Quantification of the amount of 2-Hydroxyisocaproic acid in a sample.]
Bell-shaped thorax	HP_0001591	[The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.]
response to taxane	EFO_0008580	[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 taxane, an antineoplastic agent.]