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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease primary familial polycythemia
Comorbidity C0031511|phaeochromocytoma
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PubMedID- 20959442 Although it might be hypothesised that germline phd2 mutations might be restricted to phaeochromocytoma patients with congenital erythrocytosis, we did not identify a phd2 mutation in a patient with early onset phaeochromocytoma and erythrocytosis.

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