loading...| Preferred Name |
May-Hegglin Anomaly |
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| Synonyms |
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| Definitions |
A disorder that may result in skin haemorrhage or blood spots on the skin (purpura) and bleeding. It is characterized by low blood platelet count (thrombocytopenia), giant platelets, and characteristic inclusions in peripheral blood leukocytes, and it is associated with mutation of the MYH9 gene. The condition may cause abnormalities in the inner ear of some patients hence the development of sensorineural hearing impairment. The hearing impairment may be congenital or developed at a later age or even in late adulthood. |
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| ID |
http://purl.obolibrary.org/obo/HIO_0000042 |
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| description |
A disorder that may result in skin haemorrhage or blood spots on the skin (purpura) and bleeding. It is characterized by low blood platelet count (thrombocytopenia), giant platelets, and characteristic inclusions in peripheral blood leukocytes, and it is associated with mutation of the MYH9 gene. The condition may cause abnormalities in the inner ear of some patients hence the development of sensorineural hearing impairment. The hearing impairment may be congenital or developed at a later age or even in late adulthood. |
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| created_by |
Jade Hotchkiss |
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| creation_date |
2019-05-31T07:46:18.524666Z |
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| creator |
HIO (Samuel) |
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| definition source | ||
| existence in other ontologies |
Not relevant to context of HLO |
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| gene carrying contributing genetic variation | ||
| has mode of inheritance | ||
| hasExactSynonym |
Bleeding Disorder, Platelet-Type, 6 Macrothrombocytopenia with Leukocyte Inclusions Dohle Leukocyte Inclusions with Giant Platelets Dohle Leukocyte Inclusions May-Hegglin Thrombocytopenia Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss MYH9-Related Disease MHA Matins |
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| label |
May-Hegglin Anomaly |
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| prefixIRI |
HIO:0000042 |
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| prefLabel |
May-Hegglin Anomaly |
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| subClassOf |