Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| bortezomib | CHEBI_52717 | [Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst., D-Phenylalaninamide substituted at the amide nitrogen by a 1-(dihydroxyboranyl)-3-methylbutyl group and at N(alpha) by a pyrazin-2-ylcarbonyl group. It is a dipeptidyl boronic acid that reversibly inhibits the 26S proteasome.] |
| obsolete_chondrocranium cartilage | EFO_0003690 | |
| obsolete_tremor - ataxia - central hypomyelination syndrome | Orphanet_447896 | [An autosomal dominant disorder characterized by hypomyelination, leukodystrophy, and thin corpus callosum observed on brain imaging. Clinical features include hypotonia, nystagmus, and mildly delayed motor development with onset in infancy, ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties.] |
| obsolete_superficial blastomere | EFO_0003693 | |
| RNAi profiling by array | EFO_0001030 | [RNAi profiling is an assay in which double stranded RNA is synthesized with a sequence complementary to a gene(s) of interest and introduced into a cell or organism, where it is recognized as exogenous genetic material and activates the RNAi pathway resulting in knockdown of the transcripts and providing a means to study downstream changes in gene expression.] |
| obsolete_motor developmental delay due to 14q32.2 paternally expressed gene defect | Orphanet_254516 | |
| obsolete_posterior lateral line system | EFO_0003692 | |
| tiling path by array | EFO_0001031 | [An assay in which a tiling path array (where probes are arrayed covering target regions e.g. a genome or chromosome at very high density) is used to identify transcribed regions.] |
| obsolete_aortic arch | EFO_0003695 | [Artery that is part of the pharyngeal arches.] |
| obsolete_pharyngeal arch 3-7 | EFO_0003694 | |
| translation profiling | EFO_0001033 | [An assay in which surface-bound, translationally competent ribosome complexes are used to generate a translation profile for mRNA, which mRNA may be a single molecular species, or a combination of species, including complex mixtures such as those found in the set of mRNAs isolated from a cell or tissue. One or more components of the surface-bound ribosome complex may be labeled at specific positions to permit analysis of multiple or single molecules for determination of ribosomal conformational changes and translation kinetics. Translation profiles are used as the basis for comparison of an mRNA or set of mRNA species. The translation profile can be used to determine such characteristics as kinetics of initiation, kinetic of elongation, identity of the polypeptide product, and the like. Analysis of translation profiles may be used to determine differential gene expression, optimization of mRNA sequences for expression, screening drug candidates for an effect on translation.] |
| dichloromethane | CHEBI_15767 | |
| obsolete_male inflorescence | EFO_0001034 | |
| obsolete_primordial midbrain channel | EFO_0003697 | |
| Brevibacterium linens | NCBITaxon_1703 | |
| obsolete_female inflorescence | EFO_0001035 | |
| obsolete_mid cerebral vein | EFO_0003696 | |
| obsolete_phyllid | EFO_0001036 | [leaf of a moss or liverwort, A lateral outgrowth from a plant stem that is typically a flattened expanded variably shaped greenish organ, constitutes a unit of the foliage, and functions primarily in food manufacture by photosynthesis.] |
| obsolete_ventral wall of dorsal aorta | EFO_0003699 | |
| obsolete_dorsal longitudinal anastomotic vessel | EFO_0003698 |