Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Tay-Sachs disease, b variant, adult form | MONDO_0017726 | |
| Tay-Sachs disease, B1 variant | MONDO_0017728 | |
| Sandhoff disease, infantile form | MONDO_0017721 | |
| Sandhoff disease, juvenile form | MONDO_0017722 | |
| Sandhoff disease, adult form | MONDO_0017723 | [A Sandhoff disease that occurs in an adult.] |
| Tay-Sachs disease, b variant, infantile form | MONDO_0017724 | |
| Brain demyelination due to methionine adenosyltransferase deficiency | Orphanet_168598 | [Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.] |
| Primary microcephaly | HP_0011451 | [Head circumference below 2 standard deviations below the mean for age and gender at birth.] |
| Sudden infant death - dysgenesis of the testes | Orphanet_168593 | [Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.] |
| obsolete egg allergy | MONDO_0005741 | [OBSOLETE. Allergic reaction to eggs that is triggered by the immune system.] |
| intermediate severe Salla disease | MONDO_0017737 | |
| alpha-mannosidosis, infantile form | MONDO_0017732 | |
| alpha-mannosidosis, adult form | MONDO_0017733 | |
| metachromatic leukodystrophy, adult form | MONDO_0017730 | |
| Genetic 46,XY disorder of sex development | Orphanet_325706 | |
| Aloe vera | NCBITaxon_34199 | |
| obsolete_axial spondylometaphyseal dysplasia | Orphanet_168549 | |
| metachromatic leukodystrophy, late infantile form | MONDO_0017729 | |
| obsolete_spondylometaphyseal dysplasia, Golden type | Orphanet_168544 | |
| disorder of O-N-acetylgalactosaminylglycan synthesis | MONDO_0017743 |