Disease association ontology term - MONDO:0007453 - maturity-onset diabetes of the young type 2
Term summary
- ID
- MONDO:0007453
- Name
- maturity-onset diabetes of the young type 2
- Ontology or CV name
- Disease association
- Definition
- Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes.
