Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract | Orphanet_171848 | |
| Rare hereditary disease with peripheral neuropathy | Orphanet_207015 | |
| Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement | Orphanet_352309 | |
| Streptomyces griseus | NCBITaxon_1911 | |
| Streptomyces lividans | NCBITaxon_1916 | |
| musculoskeletal system benign neoplasm | MONDO_0000636 | [A benign neoplasm that involves the musculoskeletal system.] |
| immunodeficiency 23 | MONDO_0014353 | |
| pontocerebellar hypoplasia type 9 | MONDO_0014351 | [Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene.] |
| obsolete_MEDNIK syndrome | Orphanet_171851 | |
| spleen angiosarcoma | MONDO_0002376 | [A malignant vascular neoplasm arising from the spleen.] |
| Geobacillus sp. E263 | NCBITaxon_391290 | |
| ovarian monodermal and highly specialized teratoma | MONDO_0002372 | [A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue.] |
| ovarian monodermal teratoma | MONDO_0003331 | [A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer.] |
| Streptomyces coelicolor | NCBITaxon_1902 | |
| Streptomyces clavuligerus | NCBITaxon_1901 | |
| sebaceous adenoma | MONDO_0002375 | [A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells.] |
| sebaceous gland neoplasm | EFO_1001172 | [neoplasm in the sebaceous gland, A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma.] |
| 3-methyladipate(2-) | CHEBI_86387 | [A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of 3-methyladipic acid.] |
| Streptomyces fradiae | NCBITaxon_1906 | |
| Streptomyces exfoliatus | NCBITaxon_1905 |