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Disease Ontology Browser
congenital amegakaryocytic thrombocytopenia (DOID:0090118)
Alliance: disease page
Synonyms: CAMT; congenital amegakaryocytic thrombocytopenic purpura
Alt IDs: OMIM:604498, MESH:C535982, NCI:C115207, ORDO:3319, UMLS_CUI:C1327915
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory