Term Name: congenital amegakaryocytic thrombocytopenia 2
Synonyms:
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.
Ontology: Human Disease [DOID:0061002]   ( DOID:0061002 )

Relationships
is a type of: congenital amegakaryocytic thrombocytopenia