OBO ID: DOID:0111470
Term Name: combined oxidative phosphorylation deficiency 28 Search Ontology:
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 SLC25A26 on chromosome 3p14.1. https://www.ncbi.nlm.nih.gov/pubmed/27132592
References:
Ontology: Human Disease   (DOID:0111470)
OTHER combined oxidative phosphorylation deficiency 28 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC25A26 Combined oxidative phosphorylation deficiency 28 616794
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None