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1.

Myelodysplastic syndrome associated with isolated del(5q)

The 5q- syndrome is a myelodysplastic syndrome characterized by a defect in erythroid differentiation. Patients have severe macrocytic anemia, normal or elevated platelet counts, normal or reduced neutrophil counts, erythroid hypoplasia in the bone marrow, and hypolobated micromegakaryocytes (Ebert et al., 2008). [from OMIM]

MedGen UID:
196625
Concept ID:
C0740302
Disease or Syndrome
2.

Refractory macrocytic anemia

MedGen UID:
382516
Concept ID:
C2675059
Disease or Syndrome; Finding

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