OBO ID: DOID:0112114
Term Name: combined oxidative phosphorylation deficiency 47 Search Ontology:
Synonyms:
  • COXPD47
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS28 on chromosome 8q21.13. https://pubmed.ncbi.nlm.nih.gov/30566640/
References:
Ontology: Human Disease   (DOID:0112114)
OTHER combined oxidative phosphorylation deficiency 47 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MRPS28 ?Combined oxidative phosphorylation deficiency 47 618958
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None