Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
kininogen-1 measurement	EFO_0008198	[quantification of the amount of kininogen-1 in a sample]
Kunitz-type protease inhibitor 1 measurement	EFO_0008199	[quantification of the amount of Kunitz-type protease inhibitor 1 in a sample]
obsolete_corticobasal degeneration	Orphanet_278
Severe combined immunodeficiency due to adenosine deaminase deficiency	Orphanet_277	[Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.]
obsolete_T-B+ severe combined immunodeficiency due to gamma chain deficiency	Orphanet_276	[Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.]
obsolete_severe combined immunodeficiency due to DCLRE1C deficiency	Orphanet_275
obsolete_Bernard-Soulier syndrome	Orphanet_274	[Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.]
Steinert myotonic dystrophy	Orphanet_273
Myopathy with eye involvement	Orphanet_98689
Musculoskeletal disease with cataract	Orphanet_98648
Congenital muscular dystrophy, Fukuyama type	Orphanet_272
acute erythroleukemia, familial	MONDO_0007573	[An instance of acute erythroleukemia that is caused by an inherited modification of the individual's genome.]
spinocerebellar ataxia type 34	MONDO_0007574	[Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.]
obsolete_oculopharyngeal muscular dystrophy	Orphanet_270
primary erythermalgia	MONDO_0007571	[Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.]
primary familial polycythemia due to EPO receptor mutation	MONDO_0007572	[Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.]
ibuprofen measurement	EFO_0021158	[Quantification of the amount of ibuprofen in a sample.]
hydroquinone sulfate measurement	EFO_0021157	[Quantification of the amount of hydroquinone sulfate in a sample.]
metoprolol acid metabolite measurement	EFO_0021159	[Quantification of the amount of metoprolol acid metabolite in a sample.]
2-methoxyacetaminophen sulfate measurement	EFO_0021154	[Quantification of the amount of 2-methoxyacetaminophen sulfate in a sample.]