Details of Disease

General Information of Disease (ID: DIS75MJX)

Disease Name Thrombocytopenia 3
Synonyms thrombocytopenia, autosomal recessive, 3; thrombocytopenia 3; THC3
Disease Hierarchy
DISANU9Q: Inherited thrombocytopenia
DIS75MJX: Thrombocytopenia 3
Disease Identifiers
MONDO ID
MONDO_0010120
MESH ID
C567487
UMLS CUI
C2678311
OMIM ID
273900
MedGen ID
437174

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FYB1 OT6345CH Strong Autosomal recessive [1]
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References

1 Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report. BMC Med Genet. 2014 Dec 17;15:135. doi: 10.1186/s12881-014-0135-0.