| Label | Id | |
|---|---|---|
| distal monosomy 3p | 13424 | |
| partial monosomy 3p | 13424 | |
| telomeric monosomy 3p | 13424 | |
| retinitis pigmentosa 40 | 13429 | |
| Meier-GORLIN syndrome 2; MGORS2 | http://purl.obolibrary.org/obo/MONDO_0013428 | |
| Meier-GORLIN syndrome 2 | 13428 | |
| Meier-Gorlin syndrome 2 | 13428 | |
| retinitis pigmentosa 40; RP40 | http://purl.obolibrary.org/obo/MONDO_0013429 | |
| spastic paraplegia 48, autosomal recessive | 13342 | |
| autosomal dominant 6 deafness | C563421 | |
| spastic paraplegia 48, autosomal recessive; SPG48 | http://purl.obolibrary.org/obo/MONDO_0013342 | |
| chromosome 7Q11.23 Duplication syndrome | 12342 | |
| Loeys-Dietz syndrome 3 | 13426 | |
| bronchial adenoma, NOS | http://purl.obolibrary.org/obo/MONDO_0003427 | |
| JBTS with JATD | 18342 |