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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02735 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma | ... syndrome characterized by bone dysplasia, myopathy, and bone cancer. It has been reported that mutations in MTAP cause this syndrome. MTAP encodes methylthioadenosine phosphorylase that plays a crucial role in ... | Congenital malformation | MTAP [HSA:4507] [KO:K00772] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |