MeSH Browser

MeSH Supplementary: Congenital amegakaryocytic thrombocytopenia
Unique ID: C535982
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535982
Entry Term(s): Amegakaryocytic Thrombocytopenia, Congenital
Registry Numbers: 0
Heading Mapped to: *Thrombocytopenia; *Congenital Bone Marrow Failure Syndromes
Frequency: 45
Note: A rare autosomal recessive disorder with onset in infancy and characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies. Mutations in the MPL gene have been identified. OMIM: 604498
Date of Entry: 2010/08/25
Revision Date: 2019/06/17

Congenital amegakaryocytic thrombocytopenia MeSH Supplementary Concept Data 2025