Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Fc receptor-like protein 3 measurement	EFO_0008127	[quantification of the amount of Fc receptor-like protein 3 in a sample]
Clostridium thermocellum ATCC 27405	NCBITaxon_203119
fetuin-B measurement	EFO_0008128	[quantification of the amount of fetuin-B in a sample]
endothelin-converting enzyme 1 measurement	EFO_0008121	[quantification of the amount of endothelin-converting enzyme 1 in a sample]
eotaxin measurement	EFO_0008122	[quantification of the amount of eotaxin in a sample]
Ehlers-Danlos syndrome, periodontitis type	MONDO_0007527	[Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.]
ephrin type-A receptor 1 measurement	EFO_0008123	[quantification of the amount of ephrin type-A receptor 1 in a sample]
ephrin type-B receptor 2 measurement	EFO_0008124	[quantification of the amount of ephrin type-B receptor 2 in a sample]
N-phosphocreatine	CHEBI_17287	[A phosphoamino acid consisting of creatine having a phospho group attached at the primary nitrogen of the guanidino group.]
Ehlers-Danlos syndrome, arthrochalasis type	MONDO_0007525	[Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.]
Ehlers-Danlos syndrome, hypermobility type	MONDO_0007523	[Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.]
anastrozole	CHEBI_2704	[A 1,2,4-triazole compound having a 3,5-bis(2-cyano-2-propyl)benzyl group at the 1-position.]
fibroblast growth factor 2 measurement	EFO_0008129	[quantification of the amount of fibroblast growth factor 2 in a sample]
N2,N2-dimethylguanosine measurement	EFO_0021125	[Quantification of the amount of N2,N2-dimethylguanosine in a sample.]
syringomyelia	MONDO_0017987	[Syringomyelia is characterised by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS).]
guanosine measurement	EFO_0021124	[Quantification of the amount of guanosine in a sample.]
Waardenburg-Shah syndrome	MONDO_0019518	[Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease.]
Cree leukoencephalopathy	MONDO_0020507
leukoencephalopathy with vanishing white matter	MONDO_0011380	[A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect.]
aspartylphenylalanine measurement	EFO_0021127	[Quantification of the amount of aspartylphenylalanine in a sample.]