Disease association ontology term - MONDO:0011421 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

Term summary

ID

MONDO:0011421

Name

mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

Ontology or CV name

Disease association

Definition

Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.

Parents

• is_a mitochondrial respiratory chain complex deficiency
• is_a mitochondrial proton-transporting ATP synthase complex deficiency

Annotation