Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Illumina MiniSeq	EFO_0008636	[The Illumina MiniSeq is a benchtop sequencing machine developed by Illumina.]
Illumina NovaSeq 6000	EFO_0008637	[The Illumina NovaSeq 6000 is a high-throughput sequencing machine developed by Illumina.]
2b-RAD	EFO_0008638	[Genotyping technique for population structure inferences]
Mitral valve prolapse	HP_0001634	[One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.]
obsolete_tibial muscular dystrophy	Orphanet_609
obsolete_nemaline myopathy	Orphanet_607
Proximal myotonic myopathy	Orphanet_606
obsolete_immunodeficiency due to ficolin3 deficiency	Orphanet_331190
obsolete_distal myopathy, Welander type	Orphanet_603
Distal myopathy, Nonaka type	Orphanet_602
Microcystic Renal Disease	EFO_0008621	[A congenital renal disorder characterized by the presence of small cysts in the renal cortex and/or renal medulla. [ NCI ]]
obsolete_distal myopathy with vocal cord weakness	Orphanet_600
dysthymic disorder	EFO_0008623	[A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression. [ NCI ], A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression.]
obsolete_immunodeficiency due to MASP-2 deficiency	Orphanet_331187
ethmoid cartilage	UBERON_0011242	[Region between capsules formed by anterior tips of neurocranial trabeculae.]
cartilage element of chondrocranium	UBERON_0003932	[A cartilage element of chondrocranium. Example: neurocranial trabecula.]
Hyalitis	EFO_0008628	[Inflammatory intraocular reaction with clouding and cells in vitreous; often accompanies inflammation of ciliary body, iris, choroid, or retina. [ NCI ]]
Tetralogy of Fallot	HP_0001636	[A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.]
vitreous prolapse	EFO_0008625	[Prolapse of the vitreous material through the defect in the zonule around the lens and into the anterior chamber.]
vitreous hemorrhage	EFO_0008626	[Blood extravasation in the vitreous humor. Causes include neovascularization, retinal tear, retinal detachment, and rupture of a blood vessel aneurysm in the eye. [ NCI ]]