Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_Mutilating palmoplantar keratoderma with periorificial keratotic plaques | Orphanet_659 | |
| cP-RNA-Seq | EFO_0008697 | [2',3'-cyclic phosphate (cP) RNA sequencing (cP-RNA-Seq)] |
| obsolete_congenital isolated hyperinsulinism | Orphanet_657 | |
| CPT-seq | EFO_0008698 | [Contiguity-preserving transposition sequencing (CPT-seq)] |
| obsolete_familial idiopathic steroid-resistant nephrotic syndrome | Orphanet_656 | |
| CRE-Seq | EFO_0008699 | [Cis-regulatory elements (CREs) sequencing] |
| obsolete_nephronophthisis | Orphanet_655 | |
| CLASH | EFO_0008693 | [Crosslinking, ligation, and sequencing of hybrids (CLASH)] |
| obsolete_multiple endocrine neoplasia type 2 | Orphanet_653 | |
| epithalamus | UBERON_0001899 | [Most dorsal part of the thalamus, comprising the pineal gland and habenular nuclei in most vertebrates. In a few vertebrates, it also includes the parietal eye. (Butler and Hodos, Comparative Vertebrate Neuroanatomy, 2nd ed, 2005, pg. 345-346.] |
| ClickSeq | EFO_0008694 | [Generate RNAseq libraries from stochastically terminated 3’-azido-blocked cDNA fragments (ClickSeq)] |
| obsolete_glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | Orphanet_284426 | |
| obsolete_multiple endocrine neoplasia type 1 | Orphanet_652 | |
| CNV-Seq | EFO_0008695 | [Copy number variation sequencing (CNV-Seq)] |
| COPRO-seq | EFO_0008696 | [Community profiling by sequencing] |
| methyleugenol | CHEBI_4918 | [A phenylpropanoid that has formula C11H14O2., A radiotracer consisting of choline labeled with the positron-emitting isotope carbon C 11 with potential imaging use. Upon administration, C-11 choline incorporates into tumor cells through an active, carrier-mediated transport mechanism for choline and then is phosphorylated intracellularly by choline kinase, an enzyme frequently upregulated in human tumors, yielding phosphoryl C-11 choline. In turn, phosphoryl C-11 choline is integrated into phospholipids in the cell membrane as part of phosphatidylcholine. As the proliferation of cancer cells is much higher than normal cells, tumor cells exhibit an increased rate of C-11 choline uptake and incorporation, allowing tunor imaging with positron emission tomography (PET).] |
| obsolete_LCAT deficiency | Orphanet_650 | [LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.] |
| obsolete_familial adrenal hypoplasia with absent pituitary luteinizing hormone | Orphanet_95700 | |
| Cytomegalic congenital adrenal hypoplasia | Orphanet_95702 | |
| N6-Succinyl adenosine measurement | EFO_0021657 | [Quantification of the amount of N6-Succinyl adenosine in a sample.] |