familial platelet disorder

GPTKB entity

Statements (14)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:affects platelets
gptkbp:alsoKnownAs familial platelet disorder with propensity to develop acute myelogenous leukemia
gptkbp:associatedWith RUNX1 gene mutation
gptkbp:diagnosedBy genetic testing
gptkbp:firstDescribed 1999
https://www.w3.org/2000/01/rdf-schema#label familial platelet disorder
gptkbp:inheritance autosomal dominant
gptkbp:OMIM 601399
gptkbp:riskFactor gptkb:acute_myeloid_leukemia
gptkbp:symptom thrombocytopenia
bleeding tendency
gptkbp:bfsParent gptkb:RUNX1_mutation
gptkbp:bfsLayer 6