Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_tricarboxylic acid cycle disorder | Orphanet_254749 | |
| obsolete_familial medullary thyroid carcinoma | Orphanet_99361 | |
| obsolete_Ehlers-Danlos syndrome, periodontitis type | Orphanet_75392 | |
| blastula high | EFO_0001280 | |
| blastula oblong | EFO_0001281 | |
| obsolete_blastula stage | EFO_0001282 | |
| obsolete_pyruvate metabolism disorder | Orphanet_254746 | |
| blastula sphere | EFO_0001283 | |
| cleavage 16-cell | EFO_0001284 | |
| cleavage 2-cell | EFO_0001285 | |
| cleavage 32-cell | EFO_0001286 | |
| cleavage 4-cell | EFO_0001287 | |
| cleavage 64-cell | EFO_0001288 | |
| cleavage 8-cell | EFO_0001289 | |
| Progressive supranuclear palsy - progressive non fluent aphasia | Orphanet_240112 | [PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP.] |
| mevalonate | CHEBI_25350 | |
| Brain malformation - congenital heart disease - postaxial polydactyly | Orphanet_75389 | |
| response to corticosteroid | GO_0031960 | [Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a corticosteroid stimulus] |
| hair anomaly | MONDO_0019278 | |
| mitochondrial respiratory-chain inhibitor | CHEBI_25355 |