Terminology Service for NFDI4Health
All terms in DOID
| Label | Id | Description |
|---|---|---|
| subclavian artery aneurysm | DOID_342 | |
| J_gene_segment | SO_0000470 | [Germline genomic DNA of an immunoglobulin/T-cell receptor gene including J-region with 5' UTR (SO:0000204) and 3' UTR (SO:0000205), also designated as J-segment.] |
| blepharochalasis | DOID_348 | [An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins.] |
| specific language impairment | DOID_0060244 | [A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.] |
| stuttering | DOID_0060243 | [An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech.] |
| synpolydactyly | DOID_0060242 | [A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOX D13 gene.] |
| 3-M syndrome | DOID_0060241 | [A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities.] |
| small intestine leiomyoma | DOID_1738 | [A small intestine benign neoplasm that is located_in the small intestine.] |
| UV-sensitive syndrome | DOID_0060240 | [A skin disease characterized by photosensitivity and liver spots (solar lentigines).] |
| obsolete viral gastroenteritis | DOID_1734 | [A gastroenteritis that involves inflammation of the stomach and intestines caused by viruses. The symptoms include abdominal cramps and pain, fever, watery diarrhea, loss of appetite, nausea, and vomiting.] |
| integumentary projection | UBERON_0013703 | |
| integumentary adnexa | UBERON_0006003 | |
| anatomical projection | UBERON_0004529 | |
| eyelid | UBERON_0001711 | |
| ectoderm-derived structure | UBERON_0004121 | |
| organ part | UBERON_0000064 | |
| susceptibility to IgA nephropathy 3 | OMIM_616818 | |
| omim_susceptibilty | OMIM_000000 | |
| IgA glomerulonephritis | DOID_2986 | [A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.] |
| obsolete childhood brain tumor | DOID_4705 |