Terminology Service for NFDI4Health
All terms in DOID
| Label | Id | Description |
|---|---|---|
| epididymitis | SYMP_0000263 | [Epididymitis is a reproductive system symptom characterized by an inflammation of the epididymis.] |
| atypical teratoid rhabdoid tumor | DOID_2129 | [A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system.] |
| granulomatous myositis | DOID_3428 | |
| myositis | DOID_633 | [A myopathy characterized by muscle inflammation.] |
| inclusion body myositis | DOID_3429 | [A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms.] |
| Metazoa | NCBITaxon_33208 | |
| pyrimidine_transition | SO_1000010 | [A substitution of a pyrimidine, C or T, for another pyrimidine.] |
| transition | SO_1000009 | [Change of a pyrimidine nucleotide, C or T, into an other pyrimidine nucleotide, or change of a purine nucleotide, A or G, into an other purine nucleotide.] |
| C_to_T_transition_at_pCpG_site | SO_1000012 | [The transition of cytidine to thymine occurring at a pCpG site as a consequence of the spontaneous deamination of 5'-methylcytidine.] |
| C_to_T_transition | SO_1000011 | [A transition of a cytidine to a thymine.] |
| alpha,beta-unsaturated monocarboxylic acid | CHEBI_79020 | [A monocarboxylic acid in which the carbon of the carboxy group is directly attached to a C=C or C#C bond.] |
| monocarboxylic acid | CHEBI_25384 | [An oxoacid containing a single carboxy group.] |
| complex partial seizure | SYMP_0000271 | |
| redundant_inserted_stop_gained | SO_0002214 | [A sequence variant whereby at least one base of a codon is changed, resulting in a stop codon inserted next to an existing stop codon. This leads to a polypeptide of the same length.] |
| myoclonic seizure | SYMP_0000272 | |
| Zas1_recognition_motif | SO_0002215 | [A DNA motif to which the S. pombe Zas1 protein binds. The consensus sequence is 5'-(Y)CCCCAY-3'.] |
| SNV | SO_0001483 | [SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist.] |
| Pho7_binding_site | SO_0002216 | [A promoter element with consensus sequence [5'-TCG(G/C)(A/T)xxTTxAA], bound by the transcription factor Pho7.] |
| simple partial seizure | SYMP_0000270 | |
| point_mutation | SO_1000008 | [A single nucleotide change which has occurred at the same position of a corresponding nucleotide in a reference sequence.] |