| Label | Id | |
|---|---|---|
| chromosome 21, tetrasomy 21q | C536793 | |
| long QT syndrome 2, acquired, susceptibility to | 13367 | |
| long QT syndrome 2 | 13367 | |
| long QT syndrome 2/3, digenic | 13367 | |
| long QT syndrome 2/9, digenic | 13367 | |
| long QT syndrome 2; LQT2 | http://purl.obolibrary.org/obo/MONDO_0013367 | |
| long QT syndrome type 2 | 13367 | |
| blepharophimosis-intellectual deficit syndrome, say-barber-biesecker-young-simpson type | C536717 | |
| retinitis pigmentosa type 31 | 12367 | |
| NBIA due to C19orf12 mutation | 13674 | |
| systemic, due to defect in renal reabsorption of carnitine carnitine deficiency | C536778 | |
| margarita island type ectodermal dysplasia | C536726 | |
| chromosome xq trisomy | C536732 | |
| chromosome 22, trisomy | C536799 | |
| chromosome 2, trisomy 2q | C535367 |