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DO Term : congenital amegakaryocytic thrombocytopenia 2 [DOID:0061002] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A thrombocytopenia characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure that has_material_basis_in homozygous mutation in the THPO gene on chromosome 3q27.
  • synonyms:
  • OMIM:620481,
  • 620481
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Disease

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