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Metadata
ID DOID:0111501
Name combined oxidative phosphorylation deficiency 29
Definition A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3.
https://www.ncbi.nlm.nih.gov/pubmed/26626369
Xrefs

OMIM:616811

Synonyms

COXPD29 [EXACT]

Parent Relationships

is_a combined oxidative phosphorylation deficiency

is_a autosomal recessive disease

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