Details of Disease

General Information of Disease (ID: DISG0TKT)

Disease Name Disorder of galactose metabolism
Disease Hierarchy
DISV24X3: Carbohydrate metabolism disorder
DISG0TKT: Disorder of galactose metabolism
Disease Identifiers
MONDO ID
MONDO_0017690
UMLS CUI
C0342745
MedGen ID
575203
Orphanet ID
308467
SNOMED CT ID
237963003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
GALK1 DE3OP9S Strong Biomarker [1]
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References

1 Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).Genet Med. 2018 Jan;20(1):3-11. doi: 10.1038/gim.2017.172. Epub 2017 Oct 26.