Term Name: | combined oxidative phosphorylation deficiency 28 |
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Synonyms: | COXPD28, neonatal severe cardiopulmonary failure due to mitochondrial methylation defect |
Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1. |
Ontology: | Human Disease [DOID:0111470] ( DOID:0111470 ) |