Term Name: combined oxidative phosphorylation deficiency 55
Synonyms: COXPD55
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13.
Ontology: Human Disease [DOID:0070428]   ( DOID:0070428 )

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