combined oxidative phosphorylation defect type 17
Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene.
MONDO:0000732
combined oxidative phosphorylation deficiency
is_a
COXPD17
exact
ELAC2 combined oxidative phosphorylation deficiency
exact
combined oxidative phosphorylation deficiency 17
related
combined oxidative phosphorylation deficiency caused by mutation in ELAC2
exact
combined oxidative phosphorylation deficiency type 17
exact
SPAC1D4.10 SPBC3D6.03c