congenital amegakaryocytic thrombocytopenia
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
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congenital amegakaryocytic thrombocytopenia
Summary
congenital amegakaryocytic thrombocytopenia is a rare disease[1].
Key Facts
- congenital amegakaryocytic thrombocytopenia's instance of is recorded as rare disease[2].
- congenital amegakaryocytic thrombocytopenia's instance of is recorded as class of disease[3].
- congenital amegakaryocytic thrombocytopenia is a type of thrombocytopenia[4].
- congenital amegakaryocytic thrombocytopenia is a type of isolated constitutional thrombocytopenia[5].
- congenital amegakaryocytic thrombocytopenia is a type of genetic disease[6].
- congenital amegakaryocytic thrombocytopenia is a type of autosomal recessive disease[7].
- congenital amegakaryocytic thrombocytopenia is a type of congenital disorder[8].
- congenital amegakaryocytic thrombocytopenia's NCI Thesaurus ID is recorded as C115207[9].
- congenital amegakaryocytic thrombocytopenia's health specialty is recorded as hematology[10].
- congenital amegakaryocytic thrombocytopenia's genetic association is recorded as MPL[11].
- congenital amegakaryocytic thrombocytopenia's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0090118[12].
- congenital amegakaryocytic thrombocytopenia's exact match is recorded as http://identifiers.org/doid/DOID:0090118[13].
- congenital amegakaryocytic thrombocytopenia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_3319[14].
- congenital amegakaryocytic thrombocytopenia's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].