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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01576 |
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) Spondyloenchondrodysplasia (SPENCD) |
... Furthermore, patients may also suffer from recurrent infections. SPENCD is caused by biallelic mutations in ACP5, encoding tartrate-resistant acid phosphatase (TRAP). Affected individuals displayed an absence ... | Congenital malformation | ACP5 [HSA:54] [KO:K14379] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |