Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Trisomy Xq28	Orphanet_1762	[Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.]
dynactin subunit 2 measurement	EFO_0020338	[The determination of the amount of dynactin subunit 2 in a sample]
Chordoid Meningioma	EFO_1000176	[A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma.]
dynein light chain 1, cytoplasmic measurement	EFO_0020339	[The determination of the amount of dynein light chain 1, cytoplasmic in a sample]
Prelingual sensorineural hearing impairment	HP_0000399	[A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.]
Childhood onset sensorineural hearing impairment	HP_0011474	[Sensorineural hearing impairment with childhood onset.]
fibroblast growth factor 10 measurement	EFO_0020376	[The determination of the amount of fibroblast growth factor 10 in a sample]
fibroblast growth factor 12 measurement	EFO_0020377	[The determination of the amount of fibroblast growth factor 12 in a sample]
fibroblast growth factor 16 measurement	EFO_0020378	[The determination of the amount of fibroblast growth factor 16 in a sample]
fibroblast growth factor 17 measurement	EFO_0020379	[The determination of the amount of fibroblast growth factor 17 in a sample]
fatty acid-binding protein, epidermal measurement	EFO_0020372	[The determination of the amount of fatty acid-binding protein, epidermal in a sample]
Overfolded helix	HP_0000396	[A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.]
fatty acid-binding protein, heart measurement	EFO_0020373	[The determination of the amount of fatty acid-binding protein, heart in a sample]
fibrinogen gamma chain measurement	EFO_0020374	[The determination of the amount of fibrinogen gamma chain in a sample]
fibroblast growth factor 1 measurement	EFO_0020375	[The determination of the amount of fibroblast growth factor 1 in a sample]
Thickened helices	HP_0000391	[Increased thickness of the helix of the ear.]
eukaryotic translation initiation factor 5A-1 measurement	EFO_0020370	[The determination of the amount of eukaryotic translation initiation factor 5A-1 in a sample]
fact complex subunit ssrp1 measurement	EFO_0020371	[The determination of the amount of fact complex subunit ssrp1 in a sample]
partial trisomy/tetrasomy of chromosome 9	MONDO_0016930
Colon Inflammatory Polyp	EFO_1000184	[A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis.]