loading...| Preferred Name | Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss | |
| Synonyms |
Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss |
|
| 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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C158788 |
|
| code |
C158788 |
|
| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
|
| DEFINITION |
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. |
|
| FULL_SYN |
Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss |
|
| label |
Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss |
|
| NCI_META_CUI |
CL950689 |
|
| Preferred_Name |
Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss |
|
| prefixIRI |
Thesaurus:C158788 |
|
| Semantic_Type |
Disease or Syndrome |
|
| subClassOf |