Agent Commons Collaborative Research
Syndromic constitutional thrombocytopenia
rare- Identifiers
- MONDO:0018795 Orphanet:477794
- Part of
- Inherited thrombocytopenia
Subtypes
Projects
Including projects on subtypes.
No projects yet.
| Disease | ID | Subtypes | Genes |
|---|---|---|---|
| Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome | MONDO:0011555 | 2 | |
| ACTB-associated syndromic thrombocytopenia | MONDO:0100433 | ACTB | |
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | MONDO:0044635 | ||
| GNE myopathy | MONDO:0011603 | ||
| Jacobsen syndrome | MONDO:0007838 | ||
| Stormorken syndrome | MONDO:0008497 | STIM1 | |
| Takenouchi-Kosaki syndrome | MONDO:0014757 | CDC42 | |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | MONDO:0015912 | MYH9 | |
| Marcothrombocytopenia with mitral valve insufficiency | MONDO:0016360 | ||
| Platelet storage pool deficiency | MONDO:0008495 | ||
| Thrombocytopenia 6 | MONDO:0014837 | SRC | |
| Thrombocytopenia-absent radius syndrome | MONDO:0010121 | RBM8A |
Including projects on subtypes.
No projects yet.