Disease association ontology term - MONDO:0005775 - G6PD deficiency
Term summary
- ID
- MONDO:0005775
- Name
- G6PD deficiency
- Ontology or CV name
- Disease association
- Definition
- An X-linked genetic condition caused by alterations in the gene G6PD that result in moderately to severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Most individuals with G6PD deficiency are asymptomatic throughout their life. Individuals with G6PD variants that cause G6PD deficiency are at risk for severe neonatal jaundice. These individuals are also at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.
