Diaphragmatic malformations
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| DIAPHRAGMATIC EVENTRATION | PIK3CA | Causal | — | Disgenet | |
| DIAPHRAGMATIC HERNIA 3 | ZFPM2 | Causal | CTD ClinVar GWAS catalog HPO | ||
| DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS | ALDH1A2 | Causal | ClinVar Disgenet GWAS catalog HPO | ||
| DIAPHRAGMATIC HERNIA 5, X-LINKED | PLS3 | Unknown | — | HPO | |
| DIAPHRAGMATIC HERNIA, SHORT BOWEL, ASPLENIA SYNDROME | HLX | Unknown | — | Disgenet | |
| DIAPHRAGMATIC HERNIA-SHORT BOWEL-ASPLENIA SYNDROME | HLX | Unknown | Orphanet |