General Information of Disease (ID: DIS673P3)

Disease Name Symptomatic form of hemophilia B in female carriers
Definition A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX.
Disease Hierarchy
DIS6KF0Q: Haemophilia B
DIS673P3: Symptomatic form of hemophilia B in female carriers
Disease Identifiers
MONDO ID
MONDO_0015788
UMLS CUI
C5680505
MedGen ID
1843014
Orphanet ID
177929

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
F9 TTFEZ5Q Supportive X-linked [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
F9 OTT0CX3Q Supportive X-linked [1]
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References

1 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.