Terminology Service for NFDI4Health
All terms in BAO
| Label | Id | Description |
|---|---|---|
| Axenfeld-Rieger syndrome | DOID_14686 | [An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment.] |
| diastrophic dysplasia | DOID_14687 | [An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.] |
| pedophilia | DOID_13351 | |
| paraphilia disorder | DOID_0060044 | |
| Ehlers-Danlos syndrome | DOID_13359 | [A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.] |
| collagen disease | DOID_854 | |
| Conn's syndrome | DOID_12028 | [An adrenal admenoma characterized by over production of aldosterone.] |
| adrenal adenoma | DOID_656 | [An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland.] |
| Silver-Russell syndrome | DOID_14681 | |
| chromosomal disease | DOID_0080014 | [A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.] |
| chondromalacia patellae | DOID_13357 | |
| chondromalacia | DOID_2557 | |
| Cellomics Multiplexed p53 and p21 Detection Kit | BAO_0002985 | |
| miRNA | BAO_0000322 | [miRNAs or microRNAs are short RNAs (~22 nucleotides long) that bind to complementary sequences in the three prime untranslated regions (3' UTRs) of target messenger RNA transcripts (mRNAs), usually resulting in gene silencing.] |
| Cellomics p38 MAPK Activation Kit | BAO_0002986 | |
| histiocytosis | DOID_3405 | [A lymphatic system disease that is characterized by an excessive number of histiocytes.] |
| external ear cancer | DOID_5665 | |
| auditory system cancer | DOID_833 | [An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs.] |
| parovarian cyst | DOID_4333 | |
| breast myoepithelial neoplasm | DOID_3004 |