Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| partial deletion of chromosome 17 | MONDO_0016879 | |
| partial deletion of the long arm of chromosome 19 | MONDO_0016917 | |
| partial deletion of chromosome 19 | MONDO_0016881 | |
| partial deletion of the long arm of chromosome 20 | MONDO_0016918 | |
| partial deletion of chromosome 20 | MONDO_0016882 | |
| partial trisomy/tetrasomy of the short arm of chromosome 12 | MONDO_0016933 | |
| partial duplication of chromosome 12 | MONDO_0042968 | |
| partial duplication of chromosome 16 | MONDO_0016934 | |
| partial duplication of chromosome 17 | MONDO_0016935 | |
| chromosome 17 disorder | MONDO_0020583 | [Chromosomal disorder in which chromosome 17 is affected.] |
| partial trisomy/tetrasomy of chromosome 18 | MONDO_0016936 | [A chromosomal disorder characterized by the presence of extra copy/copies of part of chromosome 18.] |
| partial duplication of chromosome 10 | MONDO_0016931 | |
| partial duplication of chromosome 11 | MONDO_0016932 | |
| Biliary tract obstruction | HP_0005230 | [Obstruction affecting the biliary tree.] |
| obsolete_49,XYYYY syndrome | Orphanet_99330 | |
| susceptibility to HIV infection | MONDO_0004951 | [The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte.] |
| Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA | Orphanet_254793 | |
| partial duplication of chromosome 6 | MONDO_0016927 | |
| partial duplication of chromosome 7 | MONDO_0016928 | |
| ribitol | CHEBI_15963 | [A pentitol (five-carbon sugar alcohol) having meso-configuration, being derived from ribose by reduction of the carbonyl group. It occurs naturally in the plant Adonis vernalis.] |