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