| DISEASE NAME | Isolated constitutional thrombocytopenia,PMM2-CDG |
| DISEASE CATEGORY (ICD10) | Endocrine, nutritional and metabolic diseases |
| DISEASE ID (ICD10) | E77.8 |
| DISEASE ID (OMIM) | 212065 |
| 1 combination linked to 477797 | OLI1738 |
| 1 gene combination linked to 477797 | GFI1B; PMM2 |
| ORPHANET ID | 477797 |