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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02280 |
Complex lethal osteochondrodysplasia Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type |
... congenital developmental anomalies affecting the brain, lungs, and kidneys. It has been demonstrated that TAPT1 mutations underlie this disease. TAPT1 is a centrosome and/or ciliary basal body protein that could ... | Congenital malformation | TAPT1 [HSA:202018] [KO:K23404] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |