Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Senecio squalidus subsp. squalidus | NCBITaxon_121555 | |
| obsolete_Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys | Orphanet_79118 | |
| obsolete_chondroectodermal dysplasia with night blindness | Orphanet_319195 | |
| curcumin | CHEBI_3962 | [Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia., A polyphenol that has formula C21H20O6.] |
| Autosomal recessive spastic paraplegia type 53 | Orphanet_319199 | |
| Genetic neurodegenerative disease | Orphanet_183500 | |
| obsolete_16p11.2p12.2 microduplication syndrome | Orphanet_261204 | |
| female reproductive system | UBERON_0000474 | [The organs and associated structures associated with bearing offspring in a female animal.] |
| reproductive system | UBERON_0000990 | [Anatomical system that has as its parts the organs concerned with reproduction.] |
| testis | UBERON_0000473 | [A gonad of a male animal. A gonad produces and releases sperm.] |
| gonad | UBERON_0000991 | [Reproductive organ that produces and releases eggs (ovary) or sperm (testis).] |
| anatomical system | UBERON_0000467 | [Multicellular, connected anatomical structure that has multiple organs as parts and whose parts work together to achieve some shared function.] |
| male reproductive system | UBERON_0000079 | [The organs associated with producing offspring in the gender that produces spermatozoa.] |
| obsolete_mandibulofacial dysostosis-microcephaly syndrome | Orphanet_79113 | |
| Volvox carteri | NCBITaxon_3067 | |
| obsolete_diencephalic-mesencephalic junction dysplasia | Orphanet_319192 | |
| multicellular organism | UBERON_0000468 | [Anatomical structure that is an individual member of a species and consists of more than one cell.] |
| Developmental malformations - deafness - dystonia | Orphanet_79107 | |
| Rare genetic developmental defect during embryogenesis | Orphanet_183530 | |
| Rare disorder with dystonia and other neurologic or systemic manifestation | Orphanet_370106 |