Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
DR-Seq	EFO_0010005	[DR-Seq studies the genomic and transcriptomic relationship in single cells. Nucleic acid amplification prior to physical separation reduces sample loss and the risk of contamination. DR-Seq involves multiple amplification steps, including a quasilinear amplification technique similar to MALBAC.]
Ataxia-oculomotor apraxia type 4	EFO_0009016	[Ataxia-oculomotor apraxia-4 is an autosomal recessive neurologic disorder characterized by onset of dystonia and ataxia in the first decade. Additional features include oculomotor apraxia and peripheral neuropathy. Some patients may show cognitive impairment. The disorder is progressive, and most patients become wheelchair-bound in the second or third decade (summary by Bras et al., 2015).]
whole plant	PO_0000003	[A plant structure (PO:0005679) which is a whole organism.]
plant structure	PO_0009011	[An anatomical structure that is or was part of a plant, or was derived from a part of a plant.]
Autosomal recessive spastic paraplegia type 57	EFO_0009017	[Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.]
scM&T-seq	EFO_0010006	[scM&T-Seq allows parallel analysis of both epigenetic and gene expression patterns from single cells using Smart-seq2 and scBS-seq. scM&T-Seq is built upon G&T-seq, but instead of using MDA for DNA sequencing, it uses scBS-Seq to determine DNA methylation patterns.]
RASL-seq	EFO_0010003	[RNA-mediated oligonucleotide annealing, selection, and ligation with next-generation sequencing (RASL-Seq) is a 2-dimensional RNA sequencing method to quantify expression profiles of several hundred genes, under thousands of different conditions]
Autosomal recessive spastic paraplegia type 75	EFO_0009018	[Spastic paraplegia-75 is an autosomal recessive, slowly progressive neurodegenerative disorder characterized by onset of spastic paraplegia and cognitive impairment in childhood (summary by Lossos et al., 2015).]
SCRB-seq	EFO_0010004	[SCRB-Seq is a cost-efficient, multiplexed, single-cell mRNA sequencing technique.]
Autosomal recessive spastic paraplegia type 76	EFO_0009019	[Spastic paraplegia-76 is an autosomal recessive neurologic disorder characterized by young-adult onset of slowly progressive spasticity of the lower limbs resulting in gait difficulties. Most affected individuals have upper limb involvement and additional features such as foot deformities and dysarthria. Cognition is unaffected (summary by Gan-Or et al., 2016).]
MAB-seq	EFO_0010001	[MAB-seq allows simultaneous and quantitative mapping of both 5fC and 5caC at single-base resolution]
sphingosine	CHEBI_16393	[A sphing-4-enine in which the double bond is trans.]
RRMAB-seq	EFO_0010002	[Adapted version of MAB-seq that is based on the pretreatment of gDNA with the enzyme MspI, which recognizes and cuts the CCGG consensus to enrich CpG-rich regions, like gene promoters ]
in vitro transcription	EFO_0009013	[Biomolecule synthesis of RNA in vitro used for applications such as can be used in blot hybridizations and nuclease protection assays.]
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	EFO_0009014	[A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13.]
3-methylglutaconic aciduria	MONDO_0017359	[A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine.]
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	EFO_0009015	[A syndome related to the AHDC1 gene, presenting with intellectual disability, obstructive sleep apnea and mild dysmorphism.]
Rare genetic intellectual disability	Orphanet_183757
JBP1-seq	EFO_0010000	[J-binding protein 1 sequencing is a method for genome-wide profiling of 5-hydroxy-methylcytosine (5hmC)]
obsolete_renal clear cell carcinoma	EFO_0000682	[A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma., A renal cell carcinoma that is the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney., Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney., A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common.]