Term Name: combined oxidative phosphorylation deficiency 26
Synonyms: COXPD26
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1.
Ontology: Human Disease [DOID:0111490]   ( DOID:0111490 )

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