Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:associatedWith |
recurrent infections
sensorineural deafness monocytopenia |
| gptkbp:characterizedBy |
lymphedema
immunodeficiency increased risk of acute myeloid leukemia myelodysplasia |
| gptkbp:firstDescribed |
1979
J. Emberger |
| https://www.w3.org/2000/01/rdf-schema#label |
Emberger syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
GATA2 gene
|
| gptkbp:OMIM |
614038
|
| gptkbp:synonym |
Primary lymphedema with myelodysplasia
|
| gptkbp:bfsParent |
gptkb:GATA2
|
| gptkbp:bfsLayer |
7
|