Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
childhood supratentorial ependymoma	EFO_0008495	[An ependymoma that arises from the supratentorial region of the brain and occurs during childhood.]
childhood ependymoma	MONDO_0003478	[An ependymoma that arises from the central nervous system and occurs during childhood.]
chronic hepatitis	EFO_0008496	[An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders.]
chronic lung allograft dysfunction	EFO_0008497	[Chronic lung allograft dysfunction encompasses a range of pathologies that cause a transplanted lung to not achieve or maintain normal function. It manifests as airflow restriction and/or obstruction and is predominantly a result of chronic rejection.]
obsolete_Peutz-Jeghers syndrome	Orphanet_2869	[Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies.]
Short stature - valvular heart disease - characteristic facies	Orphanet_2868
obsolete_short stature, Brussels type	Orphanet_2867
Short stature - deafness - neutrophil dysfunction - dysmorphism	Orphanet_2866
Short stature - webbed neck - heart disease	Orphanet_2865
obsolete_partial duplication of the long arm of chromosome 10	Orphanet_262914
lysophosphatidylcholine 22:0 measurement	EFO_0021459	[Quantification of lysophosphatidylcholine 22:0 in a sample.]
lysophosphatidylcholine 20:2 measurement	EFO_0021458	[Quantification of lysophosphatidylcholine 20:2 in a sample.]
Short stature - wormian bones - dextrocardia	Orphanet_2863
lysophosphatidylcholine 19:0 measurement	EFO_0021455	[Quantification of lysophosphatidylcholine 19:0 in a sample.]
lysophosphatidylcholine 18:3 measurement	EFO_0021454	[Quantification of lysophosphatidylcholine 18:3 in a sample.]
lysophosphatidylcholine 20:1 measurement	EFO_0021457	[Quantification of lysophosphatidylcholine 20:1 in a sample.]
lysophosphatidylcholine 20:0 measurement	EFO_0021456	[Quantification of lysophosphatidylcholine 20:0 in a sample.]
Carpal osteolysis	HP_0001495	[Osteolysis affecting carpal bones.]
GM3 ganglioside measurement	EFO_0021451	[Quantification of GM3 ganglioside in a sample.]
GM1 ganglioside measurement	EFO_0021450	[Quantification of GM1 ganglioside in a sample.]