Details of Disease

General Information of Disease (ID: DISEPQKJ)

Disease Name Megacystis-microcolon-intestinal hypoperistalsis syndrome 4
Synonyms MMIHS4; megacystis-microcolon-intestinal hypoperistalsis syndrome 4
Disease Hierarchy
DIS9KV47: Megacystis-microcolon-intestinal hypoperistalsis syndrome
DISEPQKJ: Megacystis-microcolon-intestinal hypoperistalsis syndrome 4
Disease Identifiers
MONDO ID
MONDO_0030296
UMLS CUI
C5543519
OMIM ID
619365
MedGen ID
1783600

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
MYL9 OT6B22JB Strong Autosomal recessive [1]
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References

1 Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. Am J Med Genet A. 2016 Nov;170(11):2965-2974. doi: 10.1002/ajmg.a.37857. Epub 2016 Aug 2.