Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
disorder of phospholipids, sphingolipids and fatty acids biosynthesis	MONDO_0018117
mitochondrial DNA depletion syndrome	MONDO_0018158	[The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.]
progesterone measurement	EFO_0007004	[quantification of progesterone in a sample]
progesterone	CHEBI_17026	[A 3-oxo Delta(4)-steroid that has formula C21H30O2., A steroid hormone that has formula C21H30O2.]
disease of genitourinary system	EFO_0009663	[A disease that involves the genitourinary system. [database_cross_reference: MONDO:patterns/location]]
carnosinemia	MONDO_0008921	[Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.]
homocarnosinosis	MONDO_0009351	[Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant.]
disease of orbital region	EFO_0009664	[A disease that involves the orbital region., A disease that involves the orbital region. [database_cross_reference: MONDO:patterns/location]]
face disorder	MONDO_0044987	[A disease or disorder that involves the face.]
prolactin measurement	EFO_0007003	[quantification of prolactin in a sample]
skin pigmentation measurement	EFO_0007009	[quantification of some aspect of skin pigmentation, such as saturation, darkness or skin sensitivity to sun]
skin pigmentation	EFO_0003784	[Coloration of the skin.]
allergy measurement	EFO_0007008	[quantification of some aspect of an allergy, for example whether an allergy is present or its severity. Allergies are commonly quantified through measurement of allergen-specific IgE in the blood or skin reaction after puncture of skin through a droplet of allergen extract (skin prick test)]
allergic disease	MONDO_0005271	[An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures.]
3-(1H-indol-3-yl)propanoic acid	CHEBI_43580	[An indol-3-yl carboxylic acid that is propionic acid substituted by a 1H-indol-3-yl group at position 3.]
ticagrelor measurement	EFO_0007007	[Quantification of the amount of ticagrelor in a sample. Ticagrelor is a platelet aggregation inhibitor used for the prevention of thrombotic events in people with acute coronary syndrome or myocardial infarction with ST elevation.]
flatulence	EFO_0009669	[A state of excessive gas in the alimentary canal. [ NCI ]]
obsolete_syndromic hair shaft abnormality	Orphanet_79367
obsolete_alopecia	Orphanet_79364
external yolk syncytial layer	UBERON_2000309	[The portion of the YSL that is outside of the blastoderm margin during epiboly. Kimmel et al, 1995.]