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Summary Literature (0)
DOID:0111470 - combined oxidative phosphorylation deficiency 28

Disease Ontology Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1.

Synonyms: COXPD28, neonatal severe cardiopulmonary failure due to mitochondrial methylation defect

Xenbase Genes : slc25a26



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), combined oxidative phosphorylation deficiency (is_a)