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Entry | Name | Description | Category | Pathway | Gene |
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H00793 | Poikiloderma with neutropenia | ... the trunk and the face, evolving into poikiloderma. Patients with this disease have recurrent bacterial infections and chronic neutropenia. It has been reported mutations in USB1 cause this condition. | Skin disease | USB1 [HSA:79650] [KO:K23093] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |