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thrombocytopenia, anemia, and myelofibrosis

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal recessive disorder characterized by thrombocytopenia, increased number of giant platelets, and anemia manifesting in early childhood. Bone marrow biopsy shows increased number of megakaryocytes and reticular fibrosis consistent with myelofibrosis.
Mondo Term and Equivalent IDs
MONDO:0044316:  thrombocytopenia, anemia, and myelofibrosis
UMLS:C4479504: