Term Name: combined oxidative phosphorylation deficiency 27
Synonyms: COXPD27
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CARS2 gene on chromosome 13q34.
Ontology: Human Disease [DOID:0111489]   ( DOID:0111489 )

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