Trichohepatoenteric syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| TRICHOHEPATOENTERIC SYNDROME | SKIC2 | Causal | CTD Disgenet Orphanet | ||
| SKIC3 | Causal | CTD ClinVar Disgenet Orphanet | |||
| NELFE | Unknown | — | Disgenet | ||
| TRICHOHEPATOENTERIC SYNDROME 1 | AGK | Causal | — | Disgenet | |
| SKIC3 | Causal | ClinGen ClinVar Disgenet HPO | |||
| TRICHOHEPATOENTERIC SYNDROME 2 | SKIC2 | Causal | — | ClinGen ClinVar Disgenet GenCC HPO |