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DOID:0090118 - congenital amegakaryocytic thrombocytopenia
Disease Ontology 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.
Synonyms: CAMT, congenital amegakaryocytic thrombocytopenic purpura,
Xenbase Genes :
MONDO:0011469 - obsolete congenital amegakaryocytic thrombocytopenia |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee