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loading...| Preferred Name | Epstein Syndrome | |
| Synonyms |
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| Definitions |
An autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness; it is associated with mutation of the MYH9 gene. |
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| ID |
http://purl.obolibrary.org/obo/HIO_0000044 |
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| description |
An autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness; it is associated with mutation of the MYH9 gene. |
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| created_by |
Jade Hotchkiss |
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| creation_date |
2019-05-31T07:46:18.52605Z |
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| database cross reference |
NCIT:C131639 |
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| definition source | ||
| existence in other ontologies |
Sufficient |
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| gene carrying contributing genetic variation | ||
| label |
Epstein Syndrome |
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| prefixIRI |
HIO:0000044 |
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| prefLabel |
Epstein Syndrome |
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| subClassOf |
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