Details of Disease

General Information of Disease (ID: DIS0OGW4)

Disease Name Retinal dystrophy and microvillus inclusion disease
Disease Hierarchy
DISYKSRF: Genetic disease
DIS0OGW4: Retinal dystrophy and microvillus inclusion disease
Disease Identifiers
MONDO ID
MONDO_0859170
UMLS CUI
C5561943
OMIM ID
619446
MedGen ID
1794153

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
STX3 OT4CIWLJ Strong Autosomal recessive [1]
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References

1 Loss of syntaxin 3 causes variant microvillus inclusion disease. Gastroenterology. 2014 Jul;147(1):65-68.e10. doi: 10.1053/j.gastro.2014.04.002. Epub 2014 Apr 12.