Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_disorder of metabolite absorption and transport	Orphanet_309824
triacylglycerol 44:1 measurement	EFO_0010399	[The quantification of triacylglycerol 44:1 levels in some body fluid, used as a biomarker for disease.]
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	MONDO_0018580
multiple congenital anomalies/dysmorphic syndrome-intellectual disability	MONDO_0015159
congenital nervous system disorder	MONDO_0002320	[An abnormality of the nervous system that is present at birth or detected in the neonatal period.]
syndromic intellectual disability	MONDO_0000508	[A intellectual disability that is part of a larger syndrome.]
phenylacetate	CHEBI_18401	[A monocarboxylic acid anion that is the conjugate base of phenylacetic acid.]
sphingomyelin 24:0 measurement	EFO_0010397	[The quantification of sphingomyelin 24:0 levels in a sample.]
sphingomyelin measurement	EFO_0010118	[A quantification of sphingomyeline in a sample.]
obsolete_disorder of catecholamine synthesis	Orphanet_309830
sphingomyelin 24:1 measurement	EFO_0010398	[The quantification of sphingomyelin 24:1 levels in a sample.]
sphingomyelin 22:0 measurement	EFO_0010395	[The quantification of sphingomyelin 22:0 levels in a sample.]
sphingomyelin 22:1 measurement	EFO_0010396	[The quantification of sphingomyelin 22:1 levels in a sample.]
sphingomyelin 18:0 measurement	EFO_0010393	[The quantification of sphingomyelin 18:0 levels in a sample.]
sphingomyelin 18:1 measurement	EFO_0010394	[The quantification of sphingomyelin 18:1 levels in a sample.]
sphingomyelin 16:0 measurement	EFO_0010391	[The quantification of sphingomyelin 16:0 levels in a sample.]
sphingomyelin 16:1 measurement	EFO_0010392	[The quantification of sphingomyelin 16:1 levels in a sample.]
sphingomyelin 14:0 measurement	EFO_0010390	[The quantification of sphingomyelin 14:0 levels in a sample.]
5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide	CHEBI_18406
obsolete_congenital lobar emphysema	Orphanet_1928