Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
gamma-glutamylleucine measurement	EFO_0021140	[Quantification of the amount of gamma-glutamylleucine in a sample.]
interleukin 12 receptor subunit beta-1 measurement	EFO_0008170	[quantification of the amount of interleukin 12 receptor subunit beta-1 in a sample]
hemolytic anemia due to glutathione reductase deficiency	MONDO_0019531	[Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes.]
interleukin 13 measurement	EFO_0008171	[quantification of the amount of interleukin 13 in a sample]
interleukin 17 receptor B measurement	EFO_0008176	[quantification of the amount of interleukin 17 receptor B in a sample]
interleukin 17 receptor D measurement	EFO_0008177	[quantification of the amount of interleukin 17 receptor D in a sample]
interleukin 18 receptor 1 measurement	EFO_0008178	[quantification of the amount of interleukin 18 receptor 1 in a sample]
interleukin 18 receptor accessory protein measurement	EFO_0008179	[quantification of the amount of interleukin 18 receptor accessory protein in a sample]
benign occipital epilepsy	MONDO_0007558	[Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.]
pidermolysis bullosa simplex 5A, Ogna type	MONDO_0007555	[A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering.]
epidermolysis bullosa simplex 2F, with mottled pigmentation	MONDO_0007556	[A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation.]
epidermolysis bullosa simplex 1B, generalized intermediate	MONDO_0007554	[Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.]
mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency	MONDO_0020530	[Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).]
epidermolysis bullosa simplex 1C, localized	MONDO_0007551	[A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.]
gamma-glutamylisoleucine measurement	EFO_0021139	[Quantification of the amount of gamma-glutamylisoleucine in a sample.]
pretibial dystrophic epidermolysis bullosa	MONDO_0007552	[Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region.]
Pelvic girdle muscle weakness	HP_0003749	[Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.]
epidermolysis bullosa simplex 1A, generalized severe	MONDO_0007550	[A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.]
DSGEGDFXAEGGGVR measurement	EFO_0021136	[Quantification of the amount of DSGEGDFXAEGGGVR in a sample.]
ADSGEGDFXAEGGGVR measurement	EFO_0021135	[Quantification of the amount of ADSGEGDFXAEGGGVR in a sample.]