Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| D-Lactic acid measurement | EFO_0021587 | [Quantification of the amount of D-Lactic acid in a sample.] |
| D-Glucose measurement | EFO_0021586 | [Quantification of the amount of D-Glucose in a sample.] |
| D-Mannose measurement | EFO_0021589 | [Quantification of the amount of D-Mannose in a sample.] |
| D-Malic acid measurement | EFO_0021588 | [Quantification of the amount of D-Malic acid in a sample.] |
| D-Erythronolactone measurement | EFO_0021583 | [Quantification of the amount of D-Erythronolactone in a sample.] |
| D-Arabinose measurement | EFO_0021582 | [Quantification of the amount of D-Arabinose in a sample.] |
| D-Glucopyranose measurement | EFO_0021585 | [Quantification of the amount of D-Glucopyranose in a sample.] |
| D-Fructose measurement | EFO_0021584 | [Quantification of the amount of D-Fructose in a sample.] |
| D-2-Aminobutyric acid measurement | EFO_0021581 | [Quantification of the amount of D-2-Aminobutyric acid in a sample.] |
| Cyclic AMP measurement | EFO_0021580 | [Quantification of the amount of Cyclic AMP in a sample.] |
| Acro-oto-ocular syndrome | Orphanet_2980 | [Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.] |
| Pterygium of the conjunctiva, familial form | Orphanet_2989 | [Pterygium of the conjunctiva, familial form, is a rare pterygium, inherited autosomal dominantly, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.] |
| Rare conjunctival disease | Orphanet_98610 | |
| Pterygium colli - intellectual disability - digital anomalies | Orphanet_2988 | |
| obsolete_antecubital pterygium syndrome | Orphanet_2987 | |
| obsolete_pseudoprogeria syndrome | Orphanet_2985 | |
| obsolete_Creatine measurement | EFO_0021579 | [Quantification of the amount of Creatine in a sample.] |
| Disorder of sex development - intellectual disability | Orphanet_2983 | |
| Asp-phe measurement | EFO_0021576 | [Quantification of the amount of Asp-phe in a sample.] |
| Adipic acid measurement | EFO_0021575 | [Quantification of the amount of Adipic acid in a sample.] |