familial platelet disorder with propensity to myeloid malignancy
GPTKB entity
Statements (15)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
hereditary cancer syndrome |
| gptkbp:abbreviation |
FPDMM
|
| gptkbp:complication |
gptkb:acute_myeloid_leukemia
myelodysplastic syndrome |
| gptkbp:firstDescribed |
1999
|
| https://www.w3.org/2000/01/rdf-schema#label |
familial platelet disorder with propensity to myeloid malignancy
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
RUNX1 gene
|
| gptkbp:OMIM |
601399
|
| gptkbp:riskFactor |
myeloid malignancy
|
| gptkbp:symptom |
thrombocytopenia
platelet dysfunction |
| gptkbp:bfsParent |
gptkb:RUNX1
|
| gptkbp:bfsLayer |
7
|