loading...| Preferred Name |
May-Hegglin Anomaly |
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| Synonyms |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C131646 |
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| 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. |
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| code |
C131646 |
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| Contributing_Source |
NICHD |
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| 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. |
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| in_subset | ||
| label |
May-Hegglin Anomaly |
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| Preferred_Name |
May-Hegglin Anomaly |
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| prefixIRI |
NCIT:C131646 |
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| prefLabel |
May-Hegglin Anomaly |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0340978 |
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| subClassOf |