General Information of Disease (ID: DISELE52)

Disease Name Infantile liver failure syndrome 3
Synonyms ILFS3; INFANTILE LIVER FAILURE SYNDROME 3
Disease Hierarchy
DIS8JQTA: Infantile liver failure
DISELE52: Infantile liver failure syndrome 3
Disease Identifiers
MONDO ID
MONDO_0032844
UMLS CUI
C5231437
OMIM ID
618641
MedGen ID
1684678

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
RINT1 OTMO19ZD Strong Autosomal recessive [1]
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References

1 RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities. Am J Hum Genet. 2019 Jul 3;105(1):108-121. doi: 10.1016/j.ajhg.2019.05.011. Epub 2019 Jun 13.