Galactosemia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| CLASSIC GALACTOSEMIA | GALT | Unknown | ClinVar Orphanet | ||
| CLASSICAL GALACTOSEMIA | GALT | Unknown | — | Disgenet | |
| CLASSICAL GALACTOSEMIA, HOMOZYGOUS DUARTE-TYPE | GALT | Unknown | — | ClinVar Disgenet | |
| GALACTOSEMIA | GALT | Causal | — | GenCC | |
| GALACTOSEMIA 4 | GALM | Causal | ClinGen ClinVar GWAS catalog | ||
| GALACTOSEMIA I | GALT | Unknown | — | HPO | |
| GALACTOSEMIA II | GALK1 | Unknown | — | HPO | |
| GALACTOSEMIA III | GALE | Unknown | — | HPO | |
| GALACTOSEMIA III, SEVERE | GALE | Causal | — | Disgenet | |
| GALACTOSEMIA IV | GALM | Unknown | — | HPO | |
| GALACTOSEMIAS | GALE | Unknown | CTD Disgenet | ||
| GALK1 | Unknown | CTD Disgenet | |||
| GALT | Unknown | CTD Disgenet |