Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Zea mays subsp. mexicana | NCBITaxon_4579 | [Zea mays subsp. mexicana is one of the two annual diploid species that represents teosinte.] |
| properdin measurement | EFO_0008269 | [quantification of the amount of properdin in a sample] |
| renal cysts and diabetes syndrome | MONDO_0007669 | [Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.] |
| platelet-derived growth factor BB measurement | EFO_0008264 | [quantification of the amount of platelet-derived growth factor BB in a sample] |
| platelet-derived growth factor receptor beta measurement | EFO_0008265 | [quantification of the amount of platelet-derived growth factor receptor beta in a sample] |
| plexin-C1 measurement | EFO_0008266 | [quantification of the amount of plexin-C1 in a sample] |
| polymeric immunoglobulin receptor measurement | EFO_0008267 | [quantification of the amount of polymeric immunoglobulin receptor in a sample] |
| glaucoma-sleep apnea syndrome | MONDO_0007666 | [Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).] |
| obsolete_partial trisomy/tetrasomy of the short arm of chromosome 5 | Orphanet_262725 | |
| glaucoma 1, open angle, A | MONDO_0007664 | [Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene.] |
| juvenile open angle glaucoma | MONDO_0020367 | [Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.] |
| testosterone | CHEBI_17347 | [A potent androgenic steroid and major product secreted by the LEYDIG CELLS of the TESTIS. Its production is stimulated by LUTEINIZING HORMONE from the PITUITARY GLAND. In turn, testosterone exerts feedback control of the pituitary LH and FSH secretion. Depending on the tissues, testosterone can be further converted to DIHYDROTESTOSTERONE or ESTRADIOL., Unlike testosterone, which is a flat molecule, its 8-isomer has a folded conformation., An androstanoid having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4-C-5., An androgen that has formula C19H28O2.] |
| X-11381 measurement | EFO_0021228 | [Quantification of the amount of X-11381 in a sample.] |
| X-11374 measurement | EFO_0021227 | [Quantification of the amount of X-11374 in a sample.] |
| X-11412 measurement | EFO_0021229 | [Quantification of the amount of X-11412 in a sample.] |
| sodium nitroprusside | CHEBI_29321 | [An organic sodium salt that has formula C5FeN6Na2O., Human C5 wild-type allele is located within 9q33-q34 and is approximately 98 kb in length. This allele, which encodes complement C5 protein, is involved in the complement system, inflammatory responses, and histamine release.] |
| Bowed humerus | HP_0003865 | [A bending or abnormal curvature of the humerus.] |
| X-11847 measurement | EFO_0021268 | [Quantification of the amount of X-11847 in a sample.] |
| X-11845 measurement | EFO_0021267 | [Quantification of the amount of X-11845 in a sample.] |
| rubella encephalitis | MONDO_0020648 |