Details of Disease

General Information of Disease (ID: DISB16W4)

Disease Name Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
Synonyms MMIHS2
Disease Hierarchy
DIS9KV47: Megacystis-microcolon-intestinal hypoperistalsis syndrome
DISB16W4: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
Disease Identifiers
MONDO ID
MONDO_0025708
UMLS CUI
C5543476
OMIM ID
619351
MedGen ID
1788773

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
MYH11 OTVNVWY3 Strong Autosomal recessive [1]
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References

1 A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. Eur J Hum Genet. 2015 Sep;23(9):1266-8. doi: 10.1038/ejhg.2014.256. Epub 2014 Nov 19.