Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
X-11538 measurement	EFO_0021251	[Quantification of the amount of X-11538 in a sample.]
obsolete Y chromosome number anomaly	MONDO_0017005
spondyloepimetaphyseal dysplasia, PAPSS2 type	MONDO_0019666	[Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.]
sialic acid-binding Ig-like lectin 6 measurement	EFO_0008285	[quantification of the amount of sialic acid-binding Ig-like lectin 6 in a sample]
X-11537 measurement	EFO_0021250	[Quantification of the amount of X-11537 in a sample.]
Pfeiffer syndrome type 3	MONDO_0019661	[Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.]
Pfeiffer syndrome type 2	MONDO_0019660	[Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.]
obsolete short rib-polydactyly syndrome, Saldino-Noonan type	MONDO_0019663
serine protease 27 measurement	EFO_0008280	[quantification of the amount of serine protease 27 in a sample]
short rib-polydactyly syndrome, Majewski type	MONDO_0019662
serine/threonine-protein kinase 17B measurement	EFO_0008281	[quantification of the amount of serine/threonine-protein kinase 17B in a sample]
Sorghum bicolor	NCBITaxon_4558
hypoxanthine	CHEBI_17368	[A purine nucleobase that consists of purine bearing an oxo substituent at position 6.]
sialic acid-binding Ig-like lectin 9 measurement	EFO_0008286	[quantification of the amount of sialic acid-binding Ig-like lectin 9 in a sample]
quinoline	CHEBI_17362	[A series of reactions that result in formation of a pore, composed of complement proteins C5b, C6, C7, C8, and C9, in the membrane of a pathogenic cell. The pore allows free diffusion of molecules into and out of the cell and reduces cell viability., The simplest member of the quinoline class of compounds, comprising a benzene ring ortho fused to C-2 and C-3 of a pyridine ring., An analog of paclitaxel with antineoplastic activity. 10-Deacetyltaxol binds to and stabilizes the resulting microtubules, thereby inhibiting microtubule disassembly which results in cell- cycle arrest at the G2/M phase and apoptosis.]
SLAM family member 7 measurement	EFO_0008287	[quantification of the amount of SLAM family member 7 in a sample]
small nuclear ribonucleoprotein F measurement	EFO_0008288	[quantification of the amount of small nuclear ribonucleoprotein F in a sample]
Setaria italica	NCBITaxon_4555
SPARC-like protein 1 measurement	EFO_0008289	[quantification of the amount of SPARC-like protein 1 in a sample]
Myhre syndrome	MONDO_0007688	[Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.]