Term Name: combined oxidative phosphorylation deficiency 20
Synonyms: COXPD20
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33.
Ontology: Human Disease [DOID:0111478]   ( DOID:0111478 )

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