Terminology Service for NFDI4Health
All terms in DOID
| Label | Id | Description |
|---|---|---|
| rhizomelic chondrodysplasia punctata type 3 | DOID_0110853 | [A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2.] |
| three_prime_UTR | SO_0000205 | [A region at the 3' end of a mature transcript (following the stop codon) that is not translated into a protein.] |
| UTR | SO_0000203 | [Messenger RNA sequences that are untranslated and lie five prime or three prime to sequences which are translated.] |
| xeroderma pigmentosum group B | DOID_0110850 | [A xeroderma pigmentosum characterized by that has_material_basis_in mutation in the ERCC3 gene on chromosome 2q14.] |
| acquired gastric outlet stenosis | DOID_14099 | |
| uterine cervix leukoplakia | DOID_9043 | [A cervix disease that is characterized by the presence of a hyperkeratotic lesion.] |
| five_prime_UTR | SO_0000204 | [A region at the 5' end of a mature transcript (preceding the initiation codon) that is not translated into a protein.] |
| rhizomelic chondrodysplasia punctata type 1 | DOID_0110851 | [A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3.] |
| polyp of corpus uteri | DOID_9042 | |
| level_of_transcript_variant | SO_0001540 | [A sequence variant which alters the level of a transcript.] |
| obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of axilla and upper limb | DOID_9041 | |
| three_prime_coding_exon | SO_0000202 | [The coding exon that is most 3-prime on a given transcript.] |
| decreased_transcript_level_variant | SO_0001541 | [A sequence variant that decreases the level of mature, spliced and processed RNA with respect to a reference sequence.] |
| obsolete reticulosarcoma involving lymph nodes of head, face, and neck | DOID_9040 | |
| interior_exon | SO_0000201 | [An exon that is bounded by 5' and 3' splice sites.] |
| increased_transcript_level_variant | SO_0001542 | [A sequence variant that increases the level of mature, spliced and processed RNA with respect to a reference sequence.] |
| bilateral hypoactive labyrinth | DOID_565 | |
| parotid gland cancer | DOID_9036 | [A salivary gland cancer that is located_in the parotid gland.] |
| recombination_signal_sequence | SO_0001532 | [A region recognized by a recombinase.] |
| specific_recombination_site | SO_0000299 |