Term Name: combined oxidative phosphorylation deficiency 9
Synonyms: COXPD9
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1.
Ontology: Human Disease [DOID:0111472]   ( DOID:0111472 )

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