Term Name: combined oxidative phosphorylation deficiency 29
Synonyms: COXPD29
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3.
Ontology: Human Disease [DOID:0111501]   ( DOID:0111501 )

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