Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
cholesteryl ester 17:0 measurement	EFO_0021436	[Quantification of cholesteryl ester 17:0 in a sample.]
Familial benign chronic pemphigus	Orphanet_2841
cholesteryl ester 20:1 measurement	EFO_0021439	[Quantification of cholesteryl ester 20:1 in a sample.]
Pelvic dysplasia - arthrogryposis of lower limbs	Orphanet_2840
cholesteryl ester 20:0 measurement	EFO_0021438	[Quantification of cholesteryl ester 20:0 in a sample.]
congenital chronic kidney disease	EFO_0021433	[Impairment of the renal function secondary to chronic kidney damage persisting for three or more months.]
Abnormal larynx morphology	HP_0025423	[Any anomaly of the structure of the larynx.]
Abnormality of the larynx	HP_0001600	[An abnormality of the larynx.]
childhood-onset hypophosphatasia	EFO_0021432	[A rare, moderate form of hypophosphatasia (HPP) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures, skeletal deformities, and rickets with short stature and waddling gait.]
cholesteryl ester 16:2 measurement	EFO_0021435	[Quantification of cholesteryl ester 16:2 in a sample.]
obsolete_familial bicuspid aortic valve	Orphanet_402075
cholesteryl ester 15:0 measurement	EFO_0021434	[Quantification of cholesteryl ester 15:0 in a sample.]
adult hypophosphatasia	EFO_0021431	[A moderate form of hypophosphatasia (HPP) characterized by adult onset osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures and dental anomalies.]
Laryngospasm	HP_0025425	[A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.]
Delayed closure of the anterior fontanelle	HP_0001476	[A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.]
N-acetyl-beta-alanine measurement	EFO_0021430	[Quantification of N-acetyl-beta-alanine levels in a sample.]
zinc ion homeostasis	GO_0055069	[Any process involved in the maintenance of an internal steady state of zinc ions within an organism or cell. ]
colorectal health	EFO_0008460	[The characteristics of a person’s colorectal health, assessed for example by colonoscopy.]
Alopecia-intellectual disability syndrome	Orphanet_2850	[Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.]
matrix metalloproteinase 8 measurement	EFO_0008466	[The determination of the amount of matrix metalloproteinase 8 present in a sample]