Search Ontology:
Human Disease

congenital amegakaryocytic thrombocytopenia 1

Term ID
DOID:0061005
Synonyms
Definition
A congenital amegakaryocytic thrombocytopenia that is characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood that has_material_basis_in autosomal homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene on chromosome 1p34. https://pubmed.ncbi.nlm.nih.gov/16351641/
References
Ontology
Human Disease   ( DOID:0061005 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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