Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Fanconi anemia | MONDO_0019391 | [Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.] |
| isolated autosomal dominant hypomagnesemia, Glaudemans type | MONDO_0016048 | [Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.] |
| SPLASH | EFO_0010029 | [High-throughput approach that maps pairwise RNA interactions in vivo with high sensitivity and specificity, genome-wide] |
| Cranio-cervical dystonia with laryngeal and upper-limb involvement | EFO_0009040 | [An autosomal dominant form of focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs.] |
| Juvenile nephropathic cystinosis | EFO_0009049 | [Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.] |
| Mu-Seq | EFO_0010038 | [high-throughput NextGen sequencing method for harnessing high-copy transposons] |
| mutARS-Seq | EFO_0010039 | [Deep mutational scanning approach coupled with high-throughput sequencing to test the functional consequences of all single substitution mutations on a given ARS in a massively parallel fashion] |
| HITS-KIN | EFO_0010036 | [Method to measure functional binding of C5 to all possible sequence variants in its substrate binding site, using a high-throughput sequencing kinetics approach that simultaneously follows processing of thousands of RNA species] |
| INTACT | EFO_0010037 | [Method for cell type-specific RNA and chromatin profiling that circumvents many of the limitations of current methods for cell isolation.] |
| harlequin syndrome | MONDO_0016040 | [Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur.] |
| 3-sulfino-L-alanine | CHEBI_16345 | [The organosulfinic acid arising from oxidation of the sulfhydryl group of L-cysteine.] |
| Fanconi anemia complementation group F | EFO_0009045 | [Fanconi anemia complementation group F is a protein encoded by the FANCF gene in humans.] |
| Cappable-Seq | EFO_0010034 | [Method for directly enriching for the 5' end of primary transcripts and enabling determination of transcription start sites at single base resolution. This is achieved by enzymatically modifying the 5' triphosphorylated end of RNA with a selectable tag.] |
| Frac-Seq | EFO_0010035 | [Approach that combines subcellular fractionation and high throughput RNA sequencing to assay partitioning of mRNA isoforms between the cytosolic and the polyribosome-associated fractions] |
| Fanconi anemia complementation group G | EFO_0009046 | [Fanconi anemia complementation group G is a protein encoded by the FANCG gene in humans.] |
| EasyMF | EFO_0010032 | [SupF shuttle vector-based mutagenesis assay.] |
| Hyperpigmentation of the skin | EFO_0009047 | [A darkening of the skin related to an increase in melanin production and deposition.] |
| Intrahepatic cholestasis of pregnancy | EFO_0009048 | [Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.] |
| RSMA | EFO_0010033 | [Methylation-sensitive PCR analysis for the analysis of DNA methylation patterns in single cells] |
| CRISPR-UMI | EFO_0010030 | [Single-cell lineage tracing of pooled CRISPR?Cas9 screens] |