Term Name: combined oxidative phosphorylation deficiency 42
Synonyms: COXPD42
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31.
Ontology: Human Disease [DOID:0112118]   ( DOID:0112118 )

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