Hyperprolinemia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| HYPERPROLINEMIA | ALDH4A1 | Unknown | — | Disgenet | |
| HYPERPROLINEMIA TYPE 1 | PRODH | Unknown | ClinGen GenCC Orphanet | ||
| HYPERPROLINEMIA TYPE 2 | ALDH4A1 | Causal | CTD ClinGen ClinVar Disgenet GWAS catalog Orphanet | ||
| HYPERPROLINEMIA, TYPE I | PRODH | Unknown | — | CTD HPO | |
| HYPERPROLINEMIA, TYPE II | ALDH4A1 | Unknown | — | HPO |