Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
epidermal growth factor receptor measurement	EFO_0020359	[The determination of the amount of epidermal growth factor receptor in a sample]
colorectal adenoma	EFO_0005406	[An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.]
Acro-fronto-facio-nasal dysostosis	Orphanet_1784	[Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.]
Left-to-right shunt	HP_0012382	[Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right.]
Cardiac shunt	HP_0001693	[Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system.]
colorectal carcinoma	EFO_1001951	[A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.]
galectin-4 measurement	EFO_0020398	[The determination of the amount of galectin-4 in a sample]
galectin-8 measurement	EFO_0020399	[The determination of the amount of galectin-8 in a sample]
obsolete_distal trisomy 19q	Orphanet_1717
follistatin-related protein 3 measurement	EFO_0020394	[The determination of the amount of follistatin-related protein 3 in a sample]
partial duplication of chromosome 13	MONDO_0700029
syndrome caused by partial chromosomal duplication	MONDO_0000762	[A chromosomal disorder consisting of the presence of a part of a chromosome in more copies than in a regular genome.]
fractalkine measurement	EFO_0020395	[The determination of the amount of fractalkine in a sample]
obsolete_trisomy 18p	Orphanet_1715
Short chin	HP_0000331	[Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.]
g2/mitotic-specific cyclin-B1 measurement	EFO_0020396	[The determination of the amount of g2/mitotic-specific cyclin-B1 in a sample]
obsolete_distal trisomy 18q	Orphanet_1716
galectin-2 measurement	EFO_0020397	[The determination of the amount of galectin-2 in a sample]
chromosome 22 disorder	MONDO_0700026	[Chromosomal disorder in which chromosome 22 is affected.]
autosomal anomaly	MONDO_0020049	[Chromosomal disorder in which the chromosomal anomaly involves an autosome.]