OBO ID: DOID:0090118
Term Name: congenital amegakaryocytic thrombocytopenia Search Ontology:
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)
OTHER congenital amegakaryocytic thrombocytopenia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MPL Thrombocytopenia, congenital amegakaryocytic 604498
PHENOTYPE No data available

CITATIONS (1)