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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease constitutional mismatch repair deficiency syndrome
Comorbidity C0032580|familial adenomatous polyposis
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PubMedID- 24310308 There are variants of both familial adenomatous polyposis (gardner syndrome--with extracolonic features--and turcot syndrome, which features medulloblastoma) and lynch syndrome (muir-torre syndrome features sebaceous skin carcinomas, and turcot syndrome features glioblastomas).

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