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Metadata
ID	DOID:0061002
Name	congenital amegakaryocytic thrombocytopenia 2
Definition	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. https://pubmed.ncbi.nlm.nih.gov/28559357/
Xrefs	MIM:620481
Parent Relationships	is_a congenital amegakaryocytic thrombocytopenia
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance