Term Name: combined oxidative phosphorylation deficiency 7
Synonyms: COXPD7, severe C12ORF65-related combined oxidative phosphorylation defect, severe C12ORF65-related COXPD
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31.
Ontology: Human Disease [DOID:0111487]   ( DOID:0111487 )

Relationships
is a type of: autosomal recessive disease combined oxidative phosphorylation deficiency