Multisystem neurologic, endocrine and pancreatic disease
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Infantile multisystem neurologic-endocrine-pancreatic disease | 456312 | PTRH2 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET | C4015728 | PTRH2 | Causal Pathogenic evidence from ClinVar | 25558065, 25574476, 27129381 | ClinVar |