loading...| Preferred Name | Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss | |
| Synonyms |
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| Definitions |
An autosomal dominant disorder caused by mutation(s) of the MYH9 gene, encoding myosin-9. Clinical features include thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, and may be associated with other organ dysfunction. It comprises the Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, and Sebastian syndrome-- all of which were previously believed to be distinct entities. |
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| ID |
http://purl.obolibrary.org/obo/HIO_0000041 |
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| description |
An autosomal dominant disorder caused by mutation(s) of the MYH9 gene, encoding myosin-9. Clinical features include thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, and may be associated with other organ dysfunction. It comprises the Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, and Sebastian syndrome-- all of which were previously believed to be distinct entities. |
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| created_by |
Jade Hotchkiss |
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| creation_date |
2019-05-31T07:32:25.393602Z |
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| database cross reference |
NCIT:C158788 |
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| definition source | ||
| existence in other ontologies |
Sufficient |
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| hasExactSynonym |
MYH9-Related Disease |
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| label |
Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss |
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| prefixIRI |
HIO:0000041 |
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| prefLabel |
Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss |
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| subClassOf |