Term Name: combined oxidative phosphorylation deficiency 36
Synonyms: COXPD36
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3.
Ontology: Human Disease [DOID:0111482]   ( DOID:0111482 )

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