Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Oryza longistaminata	NCBITaxon_4528
X-10506 measurement	EFO_0021216	[Quantification of the amount of X-10506 in a sample.]
X-11204 measurement	EFO_0021219	[Quantification of the amount of X-11204 in a sample.]
X-10810 measurement	EFO_0021218	[Quantification of the amount of X-10810 in a sample.]
X-10395 measurement	EFO_0021213	[Quantification of the amount of X-10395 in a sample.]
Spastic paraplegia	HP_0001258	[Spasticity and weakness of the leg and hip muscles.]
Rieger anomaly	MONDO_0019628	[Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly.]
X-10346 measurement	EFO_0021212	[Quantification of the amount of X-10346 in a sample.]
Coma	HP_0001259	[Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.]
X-10500 measurement	EFO_0021215	[Quantification of the amount of X-10500 in a sample.]
X-10429 measurement	EFO_0021214	[Quantification of the amount of X-10429 in a sample.]
familial thoracic aortic aneurysm and aortic dissection	MONDO_0019625	[A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.]
acquired angioedema	MONDO_0019624	[Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency.]
isolated congenital alacrima	MONDO_0019627	[Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.]
X-09789 measurement	EFO_0021211	[Quantification of the amount of X-09789 in a sample.]
Intellectual disability, mild	HP_0001256	[Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.]
isolated ankyloblepharon filiforme adnatum	MONDO_0019626	[Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.]
eyelid border anomaly	MONDO_0020155
X-09706 measurement	EFO_0021210	[Quantification of the amount of X-09706 in a sample.]
congenital esophageal diverticulum	MONDO_0019620	[Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations.]