Details of Disease

General Information of Disease (ID: DISIOGNI)

Disease Name Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
Disease Hierarchy
DISYKSRF: Genetic disease
DISIOGNI: Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
Disease Identifiers
MONDO ID
MONDO_0859231
UMLS CUI
C5676928
OMIM ID
619769
MedGen ID
1802903

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
ZBTB7A OTQIVY9B Strong Autosomal dominant [1]
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References

1 ZBTB7A mutations in acute myeloid leukaemia with t(8;21) translocation. Nat Commun. 2016 Jun 2;7:11733. doi: 10.1038/ncomms11733.