Disease Term Disease ID Gene Symbol References
Pyruvate Carboxylase Deficiency Disease C0034341 PC 25058219, 23430542, 18676167, 19306334, 27604308, 12112657
Pyruvate carboxylase deficiency, benign type 353320 PC
Pyruvate carboxylase deficiency, infantile type 353308 PC
Pyruvate carboxylase deficiency, severe neonatal type 353314 PC