eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hirschsprung disease |
| Comorbidity | C0549473|thyroid carcinoma |
| Sentences | 2 |
| PubMedID- 22584707 | In the present study, we report the genetic findings in a novel family with multiple endocrine neoplasia type 2: a specific ret haplotype was documented in patients with hirschsprung disease associated with medullary thyroid carcinoma, but it was absent in patients with only medullary thyroid carcinoma. |
| PubMedID- 20152359 | Familial associations in medullary thyroid carcinoma with hirschsprung disease: the role of the ret-c620 "janus" genetic variation. |
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