Disease Term Disease ID Gene Symbol References
Trifunctional Protein Deficiency With Myopathy And Neuropathy C1969443 HADHA 23868323, 9739053, 21549624, 22065858, 10352164, 12809642, 8865274, 12442268, 7738175, 22459206, 21103935, 11855930, 14630990, 26109258, 15902556, 27491397, 19433283, 25929793, 7811722, 8770876, 20583174, 12971428, 27604308
HADHB 19699128, 17116638, 25929793, 8651282, 12754706, 21549624, 9259266, 27604308
Mitochondrial trifunctional protein deficiency 746 HADHA
HADHB