Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Spinocerebellar ataxia type 38	EFO_0009056	[Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.]
Autosomal dominant cerebellar ataxia type 3	Orphanet_94148	[Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms).]
Start-seq	EFO_0010045	[Small capped RNA sequencing, also referred to as Start-seq, captures short 5'-capped RNAs (TSS-RNAs) that are produced by Pol II during early transcription elongation.]
TAm-Seq	EFO_0010046	[tagged-amplicon deep sequencing]
Spinocerebellar ataxia type 40	EFO_0009057	[Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.]
Stable-Seq	EFO_0010043	[Method that uses a simple genetic selection combined with high-throughput DNA sequencing to assess the in vivo stability of a large number of variants of a protein]
Spinocerebellar ataxia type 41	EFO_0009058	[Spinocerebellar ataxia is characterized by progressive imbalance and gait ataxia with mild atrophy of the cerebellar vermis.]
Spinocerebellar ataxia type 42	EFO_0009059	[Spinocerebellar ataxia-42 is an autosomal dominant neurologic disorder characterized predominantly by gait instability and additional cerebellar signs such as dysarthria, nystagmus, and saccadic pursuits. The age at onset and severity of the disorder is highly variable; it is slowly progressive (summary by Coutelier et al., 2015).]
STARR-Seq	EFO_0010044	[Method that measures the strength of enhancers genome-wide, giving insight into the organization of the regulatory genome.]
Nascent-Seq	EFO_0010041	[Approach to isolate nascent RNA and subject samples to high-throughput seuqencing to asses cotranscriptional A-to-I editing]
Ren-Seq	EFO_0010042	[NB-LRR (nucleotide binding-site leucine-rich repeat) gene-targeted, Resistance gene enrichment and sequencing method that enables discovery and annotation of pathogen resistance gene family members in plant genome sequences]
spondylodysplastic dysplasia	MONDO_0019694
Nano-hmC-Seal	EFO_0010040	[Highly sensitive and selective chemical labeling and capture approach for genome-wide profiling of 5-hydroxylmethylcytosine (5hmC) using DNA isolated from about 1,000 cells.]
cholic acid	CHEBI_16359	[A steroidal bile acid derived from cholesterol.]
x-linked ichthyosis with steryl-sulfatase deficiency	EFO_0009080	[X-linked ichthyosis is clinically characterized by widespread, dark brown, polygonal scales and generalized dryness. Cutaneous manifestations are present soon after birth and usually do not improve with age. The histopathology of XLI typically shows compact hyperkeratosis and slight acanthosis with a normal granular layer (summary by Takeichi and Akiyama, 2016).]
slow muscle cell somite 10	ZFA_0001047
Congenital disorder of glycosylation with deafness as a major feature	Orphanet_371212
arterial occlusive disease	EFO_0009085	[Pathological processes which result in the partial or complete obstruction of ARTERIES. They are characterized by greatly reduced or absence of blood flow through these vessels. They are also known as arterial insufficiency. [ MeSH ]]
infantile Krabbe disease	MONDO_0016089
Krabbe disease	MONDO_0009499	[A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.]