OBO ID: DOID:0112111
Term Name: combined oxidative phosphorylation deficiency 50 Search Ontology:
Synonyms:
  • COXPD50
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS25 on chromosome 3p25.1. https://pubmed.ncbi.nlm.nih.gov/31039582/
References:
Ontology: Human Disease   (DOID:0112111)
OTHER combined oxidative phosphorylation deficiency 50 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MRPS25 ?Combined oxidative phosphorylation deficiency 50 619025
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None