Term Name: combined oxidative phosphorylation deficiency 22
Synonyms: COXPD22
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5A1 gene on chromosome 18q21.1.
Ontology: Human Disease [DOID:0111498]   ( DOID:0111498 )

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