has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of G6PD glucose-6-phosphate dehydrogenase activity G6PD deficiency https://github.com/monarch-initiative/mondo/issues/6252 https://github.com/monarch-initiative/mondo/issues/8665 https://www.malacards.org/card/glucosephosphate_dehydrogenase_deficiency inborn glucose-6-phosphate dehydrogenase activity disorder G-6-PD variant enzyme deficiency Anemia glucose-6-phosphate dehydrogenase deficiency DOID:2862 EFO:0007287 SCTID:62403005 MEDGEN:473706 glucosephosphate dehydrogenase deficiency rare inborn error of glucose-6-phosphate dehydrogenase activity 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. NANDO:2200627 MONDO:0005775 inborn error of glucose-6-phosphate dehydrogenase activity G6PD deficiency G-6-PD variant enzyme deficiency Anaemia UMLS:C2939465 NCIT:C98933 MESH:D005955 G6PD inborn errors of metabolism inborn carbohydrate metabolic disorder