Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
STAP-seq	EFO_0010028	[Method to determine the responsiveness of genomic sequences to enhancers]
PASP	EFO_0010025	[Whole-transcriptome approach to measure the lengths of poly(A) tails, including a computational pipeline implementing all necessary analyses. PASP uses direct Illumina sequencing of cDNA fragments obtained through G-tailing of poly(A)-selected mRNA followed by fragmentation and reverse transcription.]
RESA-CLIP	EFO_0010026	[Method using RESA libraries to map RNA-protein interactions.]
cleft lip-retinopathy syndrome	MONDO_0016051	[Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy.]
PELE-Seq	EFO_0010023	[Wet-lab protocol and variant-calling method that identifies both sequencing and PCR errors]
Combined oxidative phosphorylation defect type 24	EFO_0009034	[Combined oxidative phosphorylation defect type 24 is an autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe infantile-onset neurodegenerative disorder (Vanlander et al., 2015; Sofou et al., 2015).]
AGO-PAR-CLIP	EFO_0010024	[PAR-CLIP on Argonaute Proteins]
Combined oxidative phosphorylation defect type 25	EFO_0009035	[Combined oxidative phosphorylation defect type 25 is an autosomal recessive mitochondrial disorder with wide phenotypic variability.]
Combined oxidative phosphorylation defect type 26	EFO_0009036	[A highly variable phenotype resulting from a defect in mitochondrial respiratory chain activity.]
miniARS-seq	EFO_0010021	[Minimal functional regions of ARS]
Combined oxidative phosphorylation defect type 27	EFO_0009037	[A combined mitochondrial respiratory chain deficiency associated with epileptic encephalopathy and a complex movement disorder.]
Smart-3Seq	EFO_0010022	[Method that accurately quantifies transcript abundance even with small amounts of total RNA and effectively characterizes small samples extracted by laser-capture microdissection (LCM) from FFPE tissue. Modified 3Seq method - omitted poly (A) enrichment and replaced dsDNA ligation with template-switching cDNA synthesis]
17beta-hydroxy-5alpha-androstan-3-one	CHEBI_16330	[An androgen that has formula C19H30O2.]
AGO HITS-CLIP	EFO_0010020	[Map miRNA binding to AGO sites in C. elegans]
Monodelphis domestica	NCBITaxon_13616
hyaluronan	CHEBI_16336
Wolfram-like syndrome	EFO_0009063	[Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.]
Crandall syndrome	MONDO_0016067	[This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.]
X-linked erythropoietic protoporphyria	EFO_0009064	[X-linked erythropoietic protoporphyria (XLEPP) is a metabolic disorder of heme biosynthesis characterized by onset in early childhood of severe photosensitivity associated with decreased iron stores and increased erythrocyte zinc- and metal-free protoporphyrin. Some patients may develop liver disease or gallstones (summary by Ducamp et al., 2013).]
fibrochondrogenesis	MONDO_0016068	[Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.]