Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 28

Term ID
DOID:0111470
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. https://www.ncbi.nlm.nih.gov/pubmed/27132592
References
Ontology
Human Disease   ( DOID:0111470 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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