Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
cinnamaldehyde	CHEBI_16731	[The E (trans) stereoisomer of cinnamaldehyde, the parent of the class of cinnamaldehydes., A member of the cinnamaldehydes that has formula C9H8O.]
antifungal drug	CHEBI_35718	[A substance that destroys fungi by suppressing their ability to grow or reproduce. Antifungal drugs differ from industrial fungicides in that they defend against fungi present in human or animal tissues.]
N-acetyl-D-tryptophan	CHEBI_16734	[The N-acetyl derivative of D-tryptophan.]
Lactobacillus panis	NCBITaxon_47493
Escherichia coli O157:H7 str. EDL933	NCBITaxon_155864
O-decanoyl-L-carnitine	CHEBI_28717	[An O-acyl-L-carnitine that is L-carnitine having decanoyl as the acyl substituent.]
GM17776	CLO_0016636	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17779	CLO_0016635	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
2-oxobutanoate	CHEBI_16763	[A 2-oxo monocarboxylic acid anion that is the conjugate base of 2-oxobutanoic acid, obtained by deprotonation of the carboxy group.]
GM17775	CLO_0016638	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
Roberts-SC phocomelia syndrome	MONDO_0100253	[A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.]
adenosine kinase deficiency	MONDO_0100255	[A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.]
autosomal recessive non-syndromic intellectual disability	MONDO_0019502	[Autosomal recessive form of non-syndromic intellectual disability.]
disorder of methionine catabolism	MONDO_0000351	[An acquired metabolic disease that is has its basis in the disruption of methionine catabolic process.]
phytanoyl-CoA hydroxylase deficiency	MONDO_0100258	[Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene.]
Emotional lability	HP_0000712	[Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances.]
peroxisome biogenesis disorder due to PEX1 defect	MONDO_0100259	[Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.]
Zellweger spectrum disorders	MONDO_0019609	[The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.]
Agitation	HP_0000713	[A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension.]
butein	CHEBI_3237