All terms in MONDO
| Label | Id | Description |
|---|---|---|
| partial deletion of the short arm of chromosome 6 | MONDO_0016888 | |
| 7q31 microdeletion syndrome | MONDO_0016656 | |
| 8p11.2 deletion syndrome | MONDO_0016657 | |
| paternal uniparental disomy of chromosome 1 | MONDO_0016650 | |
| maternal uniparental disomy of chromosome 1 | MONDO_0016651 | |
| 2q31.1 microdeletion syndrome | MONDO_0016652 | |
| partial deletion of the long arm of chromosome 2 | MONDO_0016901 | |
| 2q33.1 microdeletion syndrome | MONDO_0016653 | |
| olivopontocerebellar atrophy | MONDO_0002017 | |
| cerebellar ataxia | MONDO_0000437 | |
| leukoplakia of vagina | MONDO_0004679 | |
| obsolete Leber congenital amaurosis | MONDO_0002018 | |
| obsolete hypohidrotic ectodermal dysplasia | MONDO_0002019 | |
| lymphangioma | MONDO_0002013 | |
| lymphatic vessel neoplasm | MONDO_0036870 | |
| obsolete progressive myoclonus epilepsy | MONDO_0004676 | |
| mitochondrial encephalomyopathy | MONDO_0004675 | |
| autosomal recessive Ehlers-Danlos syndrome, vascular type | MONDO_0002014 | |
| Ehlers-Danlos syndrome, vascular type | MONDO_0017314 | |
| dermatophytosis | MONDO_0004678 |