Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Trypanosoma brucei | NCBITaxon_5691 | |
| obsolete_Wiedemann-Steiner syndrome | Orphanet_319182 | |
| Leishmania tarentolae | NCBITaxon_5689 | |
| obsolete_isobutyryl-CoA dehydrogenase deficiency | Orphanet_79159 | |
| obsolete_cerebral organic aciduria | Orphanet_79158 | |
| obsolete_encephalopathy due to hydroxykynureninuria | Orphanet_79155 | |
| obsolete_2-aminoadipic 2-oxoadipic aciduria | Orphanet_79154 | |
| obsolete_2-methylbutyryl-CoA dehydrogenase deficiency | Orphanet_79157 | |
| Seizures - intellectual disability due to hydroxylysinuria | Orphanet_79156 | |
| Disorder of lysine and hydroxylysine metabolism | Orphanet_289832 | |
| obsolete_Acrokeratosis verruciformis of Hopf | Orphanet_79151 | |
| obsolete_16p13.11 microduplication syndrome | Orphanet_261243 | [16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.] |
| obsolete_linear and whorled nevoid hypermelanosis | Orphanet_79150 | |
| Autosomal dominant nail dysplasia | Orphanet_79153 | |
| Isolated nail anomaly | Orphanet_79369 | |
| obsolete_disseminated superficial actinic porokeratosis | Orphanet_79152 | |
| hippocampal amigdala transition area volume | EFO_0009401 | [Volume of hippocampal amigdala transition area.] |
| hippocampal volume | EFO_0005035 | [Measurement of the volume of the hippocampus] |
| hippocampus fimbria volume | EFO_0009402 | [Volume of hippocampus fimbria volume.] |
| extravillous trophoblast | UBERON_0000426 | [The outermost layer of trophoblast, produced by cytotrophoblast where there is direct contact with maternal decidua rather than blood. The EVT cells travel into the decidua, reacting with NK cells and invading maternal blood vessels feeding the placenta, softening the walls and replacing the lining with fetal tissue, a process called conversion.] |