Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
metastasis free survival	EFO_0004919	[The percentage of subjects in a study who have survived without cancer spread for a defined period of time. Usually reported as time since diagnosis or treatment. Can be reported for an individual or a study population.]
dorsal apodeme specific anlage	EFO_0000413
obsolete_ectoderm	EFO_0000414	[The outer of the three germ layers of the embryo (the other two being mesoderm and endoderm). Ectoderm gives rise to epidermis and neural tissue.]
kaposiform hemangioendothelioma	MONDO_0016236	[Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions.]
hemangioendothelioma	MONDO_0021121	[A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics.]
posterior cortical atrophy	MONDO_0018899	[Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities.]
cystinosis	MONDO_0016239	[Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.]
inborn disorder of lysosomal amino acid transport	MONDO_0019246
thrombotic thrombocytopenic purpura	MONDO_0018896	[Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP.]
capillary malformation	MONDO_0016231
Wyburn-Mason syndrome	MONDO_0018892	[Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex.]
cerebrofacial arteriovenous metameric syndrome	MONDO_0015405	[A disorder characterized by vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region.]
skin hemangioma	MONDO_0003110	[A hemangioma arising from the skin.]
urea	CHEBI_16199	[A carbonyl group with two C-bound amine groups.]
oleic acid	CHEBI_16196	[An octadec-9-enoic acid in which the double bond at C-9 has Z (cis) stereochemistry.]
endocervical carcinoma	MONDO_0004259	[A carcinoma that arises from epithelial cells of the endocervix.]
malignant neoplasm of endocervix	MONDO_0021309	[A cancer that involves the endocervix.]
Wolffian adnexal tumor	MONDO_0004255	[A benign or malignant epithelial neoplasm of probable Wolffian origin. It predominantly arises from the broad ligament and presents as a unilateral adnexal mass.]
diabetic nephropathy	EFO_0000401	[Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis., Diabetic nephropathy (sometimes called Kimmelstiel-Wilson syndrome) is a progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis.]
diffuse gastric adenocarcinoma	EFO_0000402	[An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration.]