Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| cycloheximide | CHEBI_27641 | [A piperidine antibiotic that has formula C15H23NO4., Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity. Aberrant expression of the gene may be involved in leukemia relapse., A peptide vaccine derived from the von Hippel-Lindau (VHL) tumor suppressor protein, a general transcription factor. In (H115D)VHL35 peptide, histidine is substituted for an aspartic acid in position 115. It might be used to elicit or boost cellular immunity to cancers that expressing the von Hippel-Lindau mutation. (NCI04)] |
| obsolete_genetic head and neck malformation | Orphanet_183583 | |
| Multiple cafe-au-lait spots | HP_0007565 | [The presence of six or more cafe-au-lait spots.] |
| Butterfly-shaped pigment dystrophy | Orphanet_99001 | |
| obsolete_adult-onset foveomacular vitelliform dystrophy | Orphanet_99000 | |
| obsolete_slow muscle cell somite 14 | EFO_0003581 | |
| obsolete_rhombomere 5 | EFO_0003580 | [Hindbrain segment or neuromere.] |
| obsolete_hypothyroidism due to TSH receptor mutations | Orphanet_90673 | |
| obsolete_somite 4 | EFO_0003583 | |
| obsolete_somite 12 | EFO_0003582 | |
| obsolete_floor plate neural rod | EFO_0003585 | |
| obsolete_isolated thyroid-stimulating hormone deficiency | Orphanet_90674 | |
| obsolete_floor plate rhombomere 1 | EFO_0003584 | [Floor plate that is part of the rhombomere 1.] |
| obsolete_floor plate rhombomere 6 | EFO_0003587 | [Floor plate that is part of the rhombomere 6.] |
| obsolete_floor plate rhombomere 3 | EFO_0003586 | [Floor plate that is part of the rhombomere 3.] |
| obsolete_floor plate rhombomere 7 | EFO_0003589 | [Floor plate that is part of the rhombomere 7.] |
| obsolete_floor plate rhombomere 4 | EFO_0003588 | [Floor plate that is part of the rhombomere 4.] |
| Genetic thrombotic microangiopathy | Orphanet_183589 | |
| X-linked Charcot-Marie-Tooth disease type 5 | Orphanet_99014 | |
| X-linked recessive hereditary axonal motor and sensory neuropathy | Orphanet_140462 |