Details of Disease

General Information of Disease (ID: DISPH8MQ)

Disease Name Joint contractures, osteochondromas, and B-cell lymphoma
Disease Hierarchy
DISYKSRF: Genetic disease
DISPH8MQ: Joint contractures, osteochondromas, and B-cell lymphoma
Disease Identifiers
MONDO ID
MONDO_0859369
UMLS CUI
C5774305
OMIM ID
620232
MedGen ID
1824078

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
NFATC2 OTK5T6HZ Limited Unknown [1]
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References

1 Human complete NFAT1 deficiency causes a triad of?joint contractures, osteochondromas, and B-cell?malignancy. Blood. 2022 Oct 27;140(17):1858-1874. doi: 10.1182/blood.2022015674.