hemophilia B

GPTKB entity

Statements (33)
Predicate Object
gptkbp:instanceOf genetic disorder
bleeding disorder
gptkbp:affects blood clotting
mostly males
gptkbp:alsoKnownAs gptkb:Christmas_disease
gptkbp:causedBy mutation in F9 gene
gptkbp:complication gptkb:anemia
inhibitor development
hemarthrosis
intracranial hemorrhage
gptkbp:deficiencyCauses gptkb:factor_IX
gptkbp:diagnosedBy genetic testing
factor IX assay
gptkbp:differentialDiagnosis gptkb:von_Willebrand_disease
gptkb:hemophilia_A
gptkbp:firstDescribed 1952
https://www.w3.org/2000/01/rdf-schema#label hemophilia B
gptkbp:ICD-10_code D67
gptkbp:inheritance X-linked recessive
gptkbp:inheritsFrom X-linked recessive
gptkbp:MeSH_ID D006467
gptkbp:namedAfter gptkb:Stephen_Christmas
gptkbp:notableCase gptkb:Queen_Victoria's_descendants
gptkbp:OMIM 306900
gptkbp:prevalence 1 in 25,000 male births
gptkbp:riskFactor family history
gptkbp:symptom prolonged bleeding
joint bleeding
spontaneous bleeding
gptkbp:treatment factor IX replacement therapy
recombinant factor IX
gptkbp:bfsParent gptkb:hemophilia_A
gptkbp:bfsLayer 5