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Erythrocytosis, familial, 5
Erythrocytosis-5 (ECYT5) is an autosomal dominant disorder characterized by increased red cell mass and typically elevated hemoglobin concentration and hematocrit. Some patients have increased serum EPO levels (summary by Zmajkovic et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100). [from OMIM]
Diamond-Blackfan anemia-like
Microvascular complications of diabetes, susceptibility to, 2
Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the EPO gene. [from MONDO]
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