Terminology Service for NFDI4Health
All terms in DOID
| Label | Id | Description |
|---|---|---|
| synchondrosis | UBERON_0002215 | |
| fibrous joint | UBERON_0002209 | |
| septic arthritis | DOID_813 | [An arthritis that involves infection by a pathogen located_in joint.] |
| mediastinitis | DOID_819 | [A connective tissue disease characterized by inflammation located_in the mediastinum, which extends from the diaphragm to the thoracic inlet and between the pleural cavities.] |
| interstitial myocarditis | DOID_817 | |
| obsolete HIV-associated lipodystrophy syndrome | DOID_810 | [A lipodystrophy and is_a Human immunodeficiency virus infectious disease that is characterized by loss of subcutaneous fat, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. Anti-retroviral medications are also associated with the disease. The infection has_symptom fat loss in face, buttocks, arms, legs.] |
| M26_binding_site | SO_0001900 | [A promoter element that contains a core sequence TGACGT, bound by a protein complex that regulates transcription of genes encoding PKA pathway components.] |
| AACCCT_box | SO_0001901 | [A conserved 17-bp sequence (5'-ATCA(C/A)AACCCTAACCCT-3') commonly present upstream of the start site of histone transcription units functioning as a transcription factor binding site.] |
| splice_region | SO_0001902 | [A region surrounding a cis_splice site, either within 1-3 bases of the exon or 3-8 bases of the intron.] |
| antisense_lncRNA | SO_0001904 | [Non-coding RNA transcribed from the opposite DNA strand compared with other transcripts and overlap in part with sense RNA.] |
| regional_centromere_outer_repeat_transcript | SO_0001905 | [A transcript that is transcribed from the outer repeat region of a regional centromere.] |
| feature_elongation | SO_0001907 | [A sequence variant that causes the extension of a genomic feature, with regard to the reference sequence.] |
| frameshift_elongation | SO_0001909 | [A frameshift variant that causes the translational reading frame to be extended relative to the reference feature.] |
| frameshift_variant | SO_0001589 | [A sequence variant which causes a disruption of the translational reading frame, because the number of nucleotides inserted or deleted is not a multiple of three.] |
| cocaine abuse | DOID_809 | [A substance abuse that involves the recurring use of cocaine despite negative consequences.] |
| hilum | UBERON_0004885 | |
| hemarthrosis | DOID_801 | |
| carotid artery occlusion | DOID_807 | |
| pit | UBERON_0016566 | |
| Phaeoannellomyces | NCBITaxon_66225 |