Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
isolated encephalocele	MONDO_0016057	[Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.]
scTrio-seq	EFO_0010007	[scTrio-Seq can analyze genomic CNVs, the DNA methylome, and the transcriptome of an individual mammalian cell simultaneousl. This approach is an extension of previous methods, such as scMT-seq]
obsolete early infantile epileptic encephalopathy	MONDO_0016021
irCLIP	EFO_0010008	[irCLIP maps protein-RNA interaction sites using less sample material, time, and increased cDNA library quality compared to previous CLIP methods. irCLIP was designed to tackle the issues in both iCLIP and HITS-CLIP, such as reverse-transcriptase halting and short cDNA library fragments, by using on-bead nuclease digestion.]
early myoclonic encephalopathy	MONDO_0016022	[Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern.]
acquired ichthyosis	MONDO_0018683	[Noninherited ichthyosis associated with malignancy; autoimmune, inflammatory, nutritional, metabolic, infectious, and neurologic diseases; or medications.]
ichthyosis	MONDO_0019269	[Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies.]
HiRes-Seq	EFO_0010016	[High-resolution RNA-seq to assess noncoded base substitutions in mRNA (HiRes-Seq)]
Bardet-Biedl syndrome 9	EFO_0009027	[BBS9 is an autosomal recessive disorder characterized by obesity, polydactyly, renal anomalies, retinopathy, and intellectual disability (Abu-Safieh et al., 2012).]
obsolete_mucopolysaccharidosis type 4A	Orphanet_309297
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome	EFO_0009028	[Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis., The camptodactyly-arthropathy-coxa vara-pericarditis syndrome is an autosomal recessive condition characterized by the association of congenital or early-onset camptodactyly and noninflammatory arthropathy with synovial hyperplasia.]
HTGTS-Rep-seq	EFO_0010017	[unbiased, sensitive, and readily accessible assay to quantify antibody repertoires]
bulk immune repertoire sequencing	EFO_0030014	[An immune repertoire sequencing assay that lyses cells and sequences BCRs and TCRs indiscriminately.]
Omni-ATAC	EFO_0010014	[ATAC profiles from archival frozen tissue samples and 50-micrometer sections.]
Central precocious puberty	EFO_0009029	[Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys).]
SCTG	EFO_0010015	[Genomic & transcriptomic analysis of the same single cell after ENU mutagenesis]
Bardet-Biedl syndrome 12	EFO_0009023	[BBS12 is a clinically pleiotropic autosomal recessive ciliopathy.]
ADPr-ChAP	EFO_0010012	[ADP-ribose-specific chromatin-affinity purification (ADPr-ChAP)]
ATAC-see	EFO_0010013	[Assay of transposase-accessible chromatin with visualization (ATAC-see)]
Bardet-Biedl syndrome 4	EFO_0009024	[BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).]