combined oxidative phosphorylation deficiency 28 Disease Ontology Browser

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combined oxidative phosphorylation deficiency 28 (DOID:0111470)
Alliance: disease page
Synonyms: COXPD28; neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
Alt IDs: OMIM:616794, ORDO:466784
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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