Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	MONDO_0017283
collectin-11 measurement	EFO_0008088	[quantification of the amount of collectin-11 in a sample]
complement C1q subcomponent measurement	EFO_0008089	[quantification of the amount of complement C1q subcomponent in a sample]
spermatogenic failure 43	MONDO_0032898
obsolete_Hidrotic ectodermal dysplasia	Orphanet_189
neutropenia, severe congenital, 8, autosomal dominant	MONDO_0032899
obsolete_citrullinemia	Orphanet_187
obsolete_cherubism	Orphanet_184
obsolete_X-linked hypohidrotic ectodermal dysplasia	Orphanet_181	[An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.]
Penetrating foot ulcers	HP_0001026
1-palmitoleoylglycerophosphocholine measurement	EFO_0021088	[Quantification of the amount of 1-palmitoleoylglycerophosphocholine in a sample.]
1-oleoylglycerophosphoethanolamine measurement	EFO_0021087	[Quantification of the amount of 1-oleoylglycerophosphoethanolamine in a sample.]
1-palmitoylglycerophosphocholine measurement	EFO_0021089	[Quantification of the amount of 1-palmitoylglycerophosphocholine in a sample.]
1-linoleoylglycerophosphoethanolamine measurement	EFO_0021084	[Quantification of the amount of 1-linoleoylglycerophosphoethanolamine in a sample.]
1-linoleoylglycerophosphocholine measurement	EFO_0021083	[Quantification of the amount of 1-linoleoylglycerophosphocholine in a sample.]
1-oleoylglycerophosphocholine measurement	EFO_0021086	[Quantification of the amount of 1-oleoylglycerophosphocholine in a sample.]
1-myristoylglycerophosphocholine measurement	EFO_0021085	[Quantification of the amount of 1-myristoylglycerophosphocholine in a sample.]
1-eicosadienoylglycerophosphocholine measurement	EFO_0021080	[Quantification of the amount of 1-eicosadienoylglycerophosphocholine in a sample.]
glycerol kinase deficiency, juvenile form	MONDO_0017295	[Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.]
icosenoate	CHEBI_78075	[A long-chain monounsaturated fatty acid anion that is the conjugate base of icosenoic acid, formed by deprotonation of the carboxylic acid group. Major species at pH 7.3.]