Details of Disease

General Information of Disease (ID: DISAYBYJ)

Disease Name Severe hemophilia B
Synonyms severe factor IX deficiency; severe haemophilia type B; severe hemophilia type B
Definition
Severe hemophilia B is a form of hemophilia B characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
Disease Hierarchy
DIS6KF0Q: Haemophilia B
DISAYBYJ: Severe hemophilia B
Disease Identifiers
MONDO ID
MONDO_0015715
UMLS CUI
C5679576
MedGen ID
1826004
Orphanet ID
169793

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]
------------------------------------------------------------------------------------
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]
------------------------------------------------------------------------------------

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.