Term Name: combined oxidative phosphorylation deficiency 25
Synonyms: COXPD25
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1.
Ontology: Human Disease [DOID:0111468]   ( DOID:0111468 )

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