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Entry | Name | Description | Category | Pathway | Gene |
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H01377 | Mitchell-Riley syndrome | ... Patients with this syndrome are typically diagnosed within the first week of life and generally die within their first year of life. Mutations in rfx6 have been associated with Mitchell-Riley syndrome. | Inherited metabolic disorder | RFX6 [HSA:222546] [KO:K19521] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |