Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
CUT&RUN	EFO_0009973	[CUT&RUN stands for cleavage under targets and release using nuclease and is a method for assessing DNA-protein interactions. It involves incubating samples with an antibody against a specific target, typically a transcription factor or a chromatin modification or regulator. Next protein A-conjugated micrococcal nuclease is added to cleave DNA on either side of the target. The remaining protein-DNA complexes are isolated and high-throughput sequencing is performed on the DNA. The experimental purpose is similar to ChIP-seq but has been observed to result in lower background.]
Illumina NextSeq 1000	EFO_0010962	[The Illumina NextSeq 1000 is a benchtop high-throughput sequencing machine developed by Illumina. Its primary applications include exome sequencing, small whole-genome sequencing, whole-transcriptome sequencing and cytogenomic arrays. In contrast to the smaller NextSeq 550 model, an additional key application field is miRNA & Small RNA sequencing. When it was first commercialized, it had a maximum output of 120 Gb.]
histoplasmosis	EFO_0007310	[A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated., A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains.]
in situ HiC	EFO_0009974	[A version of the Hi-C assay in which nuclei are not disrupted prior to the ligation step but instead digestion and ligation of DNA fragments is performed in intact nuclei.]
Illumina NextSeq 2000	EFO_0010963	[The Illumina NextSeq 2000 is a benchtop high-throughput sequencing machine developed by Illumina. Its primary applications include exome sequencing, small whole-genome sequencing, whole-transcriptome sequencing and cytogenomic arrays. In contrast to the smaller NextSeq 550 model, an additional key application field is miRNA & Small RNA sequencing. When it was first commercialized, it had a maximum output of 330 Gb.]
dilution HiC	EFO_0009975	[A Hi-C assay in which cells and their nuclei are lysed during the digestion step, and the solution is then diluted many fold to limit the possibility of two non-crosslinked DNA fragments being ligated by chance.]
lumbar puncture	EFO_0010960	[A method to collect cerebrospinal fluid (CSF) from a human donor, using a needle.]
Visium Spatial Gene Expression	EFO_0010961	[A spatial transcriptomics method developed by 10x Genomics that measures either the whole transcriptome or a defined set of transcripts in intact tissue sections and maps where gene activity is occurring.]
DNase Hi-C	EFO_0009976	[DNase Hi-C is a Hi-C assay in which DNase I is used for digesting DNA fragments rather than a restriction enzyme, which can result in a higher resolution of mapped chromosome contacts.]
Hypoplastic aortic arch	HP_0012304	[Underdevelopment of the arch of aorta.]
hookworm infectious disease	EFO_0007314	[A Strongylida infectious disease that involves infection of the small intestine of mammals, cats and dogs by the parasitic nematodes of genus Ancylostoma, Necator and Uncinaria., Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ancylostomiasis and necatoriasis are available.]
obsolete_split hand, unilateral	Orphanet_295120
HIV-associated nephropathy	EFO_0007313	[A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (>3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia., Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings.]
focal segmental glomerulosclerosis	EFO_0004236	[A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure., A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE.]
multi-stage Repli-seq	EFO_0009970	[Multi-stage repli-seq is a type of repli-seq assay that compares nascent DNA sequencing profiles of many different replication time points.]
HIV wasting syndrome	EFO_0007312	[An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2., Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611).]
TSA-seq	EFO_0009971	[TSA-seq is an assay that uses tyramide signal amplification (TSA) to assess distance of DNA regions to a targeted nuclear compartment or protein, typically on a scale of 100-1000 nm.]
NAD-seq	EFO_0009972	[NAD-seq is an assay in which nucleoli are isolated and the DNA associated with them is sequenced to identify nucleoli-associating domains.]
HIV enteropathy	EFO_0007311	[A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155), A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12.]
hyperinsulinemic hypoglycemia	EFO_0007318	[A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin., An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11.]