Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
biliverdin measurement	EFO_0021033	[Quantification of the amount of biliverdin in a sample.]
cryptic phenotype measurement	EFO_0021487	[Quantification of disease-related phenotypic variability using qualitative symptom data.]
obsolete_familial recurrent peripheral facial palsy	Orphanet_2809
Heterogeneous	HP_0001425
treprostinil dose measurement	EFO_0021489	[Quantification of some aspect of treprostinil dosage.]
triacylglycerol 53:2 measurement	EFO_0021484	[Quantification of triacylglycerol 53:2 in a sample.]
triacylglycerol 51:2 measurement	EFO_0021483	[Quantification of triacylglycerol 51:2 in a sample.]
Partial pancreatic agenesis	Orphanet_2805
ubiquinone measurement	EFO_0021486	[Quantification of ubiquinone in a sample.]
W syndrome	Orphanet_2804
triacylglycerol 54:0 measurement	EFO_0021485	[Quantification of triacylglycerol 54:0 in a sample.]
triacylglycerol 50:0 measurement	EFO_0021480	[Quantification of triacylglycerol 50:0 in a sample.]
1q21.1 microdeletion syndrome	Orphanet_250989	[1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.]
Partial deletion of the long arm of chromosome 1	Orphanet_262001
triacylglycerol 51:1 measurement	EFO_0021482	[Quantification of triacylglycerol 51:1 in a sample.]
triacylglycerol 51:0 measurement	EFO_0021481	[Quantification of triacylglycerol 51:0 in a sample.]
Biomphalaria glabrata	NCBITaxon_6526
Darier disease	MONDO_0007417	[Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.]
Gorham-Stout disease	MONDO_0007414	[Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.]
disappearing bone disease	MONDO_0003157	[Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal.]