congenital amegakaryocytic thrombocytopenia

Term ID

DOID:0090118

Synonyms

• 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. (3)

References

• GARD:640
• MESH:C535982
• NCI:C115207
• OMIM:604498
• ORDO:3319
• SNOMEDCT_US_2023_03_01:716336002
• UMLS_CUI:C1327915

Ontology

Human Disease   ( DOID:0090118 )