Simpson-golabi-behmel syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| SIMPSON GOLABI BEHMEL SYNDROME TYPE 2 | OFD1 | Unknown | — | Disgenet | |
| SIMPSON-GOLABI-BEHMEL SYNDROME | OFD1 | Causal | — | Disgenet | |
| GPC3 | Unknown | CTD ClinGen Disgenet Orphanet | |||
| GPC4 | Unknown | CTD Orphanet | |||
| RETSAT | Unknown | CTD | |||
| SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 1 | GPC3 | Causal | — | ClinVar GenCC | |
| GPC4 | Unknown | — | ClinVar | ||
| SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2 | OFD1 | Causal | ClinVar GWAS catalog | ||
| SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 | GPC3 | Unknown | — | Disgenet HPO | |
| GPC4 | Unknown | — | Disgenet HPO | ||
| MED12 | Unknown | — | Disgenet | ||
| RETSAT | Unknown | — | Disgenet | ||
| SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 | OFD1 | Unknown | — | CTD HPO |