Terminology Service for NFDI4Health

May-Hegglin Anomaly

Go to external page http://purl.obolibrary.org/obo/NCIT_C131646


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

Label

May-Hegglin Anomaly

Synonyms
  • May-Hegglin Anomaly
Subsets

NCIT_C90259, NCIT_C132009

ALT DEFINITION

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.

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C131634

NICHD Hierarchy Term

May-Hegglin Anomaly

Preferred Name

May-Hegglin Anomaly

Semantic Type

Disease or Syndrome

UMLS CUI

C0340978

code

C131646