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Congenital amegakaryocytic thrombocytopenia MeSH Supplementary Concept Data 2022


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 Number
0
Heading Mapped to
*Congenital Bone Marrow Failure Syndromes
*Thrombocytopenia
Frequency
41
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 Preferred
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