Details of Disease

General Information of Disease (ID: DIST251K)

Disease Name Diarrhea 13
Disease Hierarchy
DIS5BJ7B: Congenital diarrhea
DIST251K: Diarrhea 13
Disease Identifiers
MONDO ID
MONDO_0957253
UMLS CUI
C5830477
OMIM ID
620357
MedGen ID
1841113

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
ACSL5 OT3L9XO3 Limited Unknown [1]
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References

1 Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset. Clin Genet. 2021 Mar;99(3):376-383. doi: 10.1111/cge.13883. Epub 2020 Nov 25.