Search Ontology:
Human Disease

congenital amegakaryocytic thrombocytopenia 2

Term ID
DOID:0061002
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. https://pubmed.ncbi.nlm.nih.gov/28559357/
References
Ontology
Human Disease   ( DOID:0061002 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models
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