Search Ontology:
Human Disease

congenital amegakaryocytic thrombocytopenia

Term ID
DOID:0090118
Synonyms
  • CAMT
  • congenital amegakaryocytic thrombocytopenic purpura
Definition
A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34. (3)
References
Ontology
Human Disease   ( DOID:0090118 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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