Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Rubus idaeus | NCBITaxon_32247 | |
| X-11858 measurement | EFO_0021272 | [Quantification of the amount of X-11858 in a sample.] |
| obsolete syndactyly type 2 | MONDO_0019683 | |
| congenital sialidosis type 2 | MONDO_0019682 | |
| sialidosis type 2 | MONDO_0009738 | [A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.] |
| phyllome | PO_0006001 | [A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148).] |
| juvenile sialidosis type 2 | MONDO_0019681 | |
| genochondromatosis type 2 | MONDO_0019680 | [Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.] |
| obsolete_severe combined immunodeficiency due to CARD11 deficiency | Orphanet_357237 | |
| morphine | CHEBI_17303 | [A morphinane alkaloid that has formula C17H19NO3., A highly potent opiate analgesic psychoactive drug, morphine acts directly on the central nervous system (CNS) to relieve pain. Morphine has a high potential for addiction; tolerance and both physical and psychological dependence develop rapidly.] |
| antimony(0) | CHEBI_30304 | |
| maltose | CHEBI_17306 | [A glycosylglucose consisting of two D-glucopyranose units connected by an alpha-(1->4)-linkage.] |
| propofol | CHEBI_44915 | [A phenol resulting from the formal substitution of the hydrogen at the 2 position of 1,3-diisopropylbenzene by a hydroxy group., A phenol that has formula C12H18O.] |
| intravenous anaesthetic | CHEBI_38877 | |
| immunodeficiency 66 | MONDO_0030013 | |
| lissencephaly 9 with complex brainstem malformation | MONDO_0032677 | |
| bone marrow failure syndrome 6 | MONDO_0030015 | |
| interstitial lung disease in childhood and adulthood | MONDO_0017030 | |
| secondary interstitial lung disease in childhood and adulthood | MONDO_0017034 | |
| Recessive hereditary methemoglobinemia type 1 | Orphanet_139373 |