May-Hegglin Anomaly
An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes. It is characterized by varying degrees of thrombocytopenia that may be associated with purpura and bleeding; it is associated with mutation of the MYH9 gene. [ ]
Term info
May-Hegglin Anomaly
- May-Hegglin Anomaly
NCIT_C90259, NCIT_C132009
An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes. It is characterized by varying degrees of thrombocytopenia that may be associated with purpura and bleeding; it is associated with mutation of the MYH9 gene.
NICHD
http://purl.obolibrary.org/obo/NCIT_C131634
May-Hegglin Anomaly
May-Hegglin Anomaly
Disease or Syndrome
C0340978
C131646