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congenital amegakaryocytic thrombocytopenia
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease physical disorder thrombocytopenia
External Links
- Disease Ontology
- DOID:0090118
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
