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DOID:0090118 - congenital amegakaryocytic thrombocytopenia
Disease Ontology Definition:A thrombocytopenia characterized by a severe reduction in megakaryocyte and platelet numbers that has_material_basis_in homozygous or compound heterozygous mutation in the MPL gene on chromosome 1p34.
Synonyms: CAMT, congenital amegakaryocytic thrombocytopenic purpura,
Echinobase Genes :
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
thrombocytopenia (is_a)