Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
excretory apparatus of the lacrimal system anomaly	MONDO_0020195
oculodental syndrome, Rutherfurd type	MONDO_0008396	[Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.]
syndromic corneal dystrophy	MONDO_0020215	[A corneal dystrophy (disease) that is part of a larger syndrome.]
obsolete_zygodactyly type 4	Orphanet_295193
neoplasm of mediastinum	MONDO_0021386	[A neoplasm (disease) that involves the mediastinum.]
obsolete_zygodactyly type 3	Orphanet_295191
obsolete_synpolydactyly type 2	Orphanet_295197
obsolete_synpolydactyly type 1	Orphanet_295195
Lopes-Maciel-Rodan syndrome	EFO_0009904	[An autosomal recessive neurodevelopmental disorder characterized by developmental regression in infancy, delayed psychomotor development, severe intellectual disability, and cerebral and cerebellar atrophy. Additional features include swallowing problems, dystonia, bradykinesia, and continuous manual stereotypies without chorea. Some patients manifest seizures.]
obsolete_synpolydactyly type 3	Orphanet_295199
Desmoid-type fibromatosis	EFO_0009907	[A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.]
inherited soft tissue tumor	MONDO_0017127	[An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome.]
Genetic soft tissue tumor	Orphanet_271832	[An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome.]
10x 5' v2	EFO_0009900	[10X 5' v2 is the second version of the 10x sequencing technology that sequences from the 5' end of nucleic acid molecules. In the 5' assay, the polyd(T) is supplied in the RT Primer, and the template switch oligo (TSO) is part of the gel bead oligo.]
10x 5' transcription profiling	EFO_0030004	[10x 5' transcription profiling is the 10x-based single-cell technology that sequences mRNA molecules from their 5' end.]
neoplasm of pericardium	MONDO_0021381	[A neoplasm (disease) that involves the pericardium.]
cardiovascular neoplasm	MONDO_0024757	[A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma.]
10x 3' v1	EFO_0009901	[10x 3' v1 is the first version of the 10X sequencing technology that sequences from the 3' end of nucleic acid molecules. Differs from 5' v1 in the captured end from the polyadenylated transcript.]
handedness	EFO_0009902	[A better, faster, or more precise performance or individual preference for use of a hand, known as the dominant hand; the less capable or less preferred hand is called the non-dominant hand. Dominance typically applies to all tasks, but in rare cases may be task-specific (known as cross-handedness or mixed-dominance) Ambidexterity is the ability to do any task equally well with either hand.]
functional laterality	EFO_0003889	[Behavioral manifestations of cerebral dominance in which there is preferential use and superior functioning of either the left or the right side, as in the preferred use of the right hand or right foot.]