General Information of Disease (ID: DIS0UGU2)

Disease Name Maple syrup urine disease, mild variant
Synonyms MSUDMV; maple syrup urine disease, mild variant
Disease Hierarchy
DIS61XRH: Maple syrup urine disease
DIS0UGU2: Maple syrup urine disease, mild variant
Disease Identifiers
MONDO ID
MONDO_0014057
UMLS CUI
C3554575
OMIM ID
615135
MedGen ID
767489

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
PPM1K OTNZ4N4E Moderate Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.