Details of Disease

General Information of Disease (ID: DISE13Q9)

Disease Name Imagawa-Matsumoto syndrome
Synonyms IMMAS; IMAGAWA-MATSUMOTO SYNDROME
Disease Hierarchy
DISYKSRF: Genetic disease
DISE13Q9: Imagawa-Matsumoto syndrome
Disease Identifiers
MONDO ID
MONDO_0032916
UMLS CUI
C5394073
OMIM ID
618786
MedGen ID
1711007

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
SUZ12 OT655XF8 Definitive Autosomal dominant [1]
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References

1 Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. Hum Mutat. 2017 Jun;38(6):637-648. doi: 10.1002/humu.23200. Epub 2017 Mar 15.