Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Lactobacillus rhamnosus	NCBITaxon_47715
obsolete_mosaic trisomy 17	Orphanet_1711
Broad forehead	HP_0000337	[Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.]
Patellar dislocation	HP_0002999	[The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.]
Joint dislocation	HP_0001373	[Displacement or malalignment of joints.]
benzylpenicillin	CHEBI_18208
fibroblast growth factor 9 measurement	EFO_0020387	[The determination of the amount of fibroblast growth factor 9 in a sample]
phenols	CHEBI_33853	[Organic aromatic compounds having one or more hydroxy groups attached to a benzene or other arene ring.]
fibroblast growth factor receptor 1 measurement	EFO_0020388	[The determination of the amount of fibroblast growth factor receptor 1 in a sample]
fibroblast growth factor receptor 2 measurement	EFO_0020389	[The determination of the amount of fibroblast growth factor receptor 2 in a sample]
Micrognathia	HP_0000347	[Developmental hypoplasia of the mandible.]
Abnormal mandible morphology	HP_0000277	[Any abnormality of the mandible, the bone of the lower jaw.]
chromosome 12 disorder	MONDO_0700019	[Chromosomal disorder in which chromosome 12 is affected.]
fibroblast growth factor 6 measurement	EFO_0020383	[The determination of the amount of fibroblast growth factor 6 in a sample]
Narrow forehead	HP_0000341	[Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).]
chromosome 11 disorder	MONDO_0700018	[Chromosomal disorder in which chromosome 11 is affected.]
fibroblast growth factor 7 measurement	EFO_0020384	[The determination of the amount of fibroblast growth factor 7 in a sample]
fibroblast growth factor 8 isoformAmeasurement	EFO_0020385	[The determination of the amount of fibroblast growth factor 8 isoformA in a sample]
22q11.2 microduplication syndrome	Orphanet_1727	[The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.]
Long philtrum	HP_0000343	[Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.]