OBO ID: DOID:0112118
Term Name: combined oxidative phosphorylation deficiency 42 Search Ontology:
Synonyms:
  • COXPD42
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GATC on chromosome 12q24.31. https://pubmed.ncbi.nlm.nih.gov/30283131/
References:
Ontology: Human Disease   (DOID:0112118)
OTHER combined oxidative phosphorylation deficiency 42 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GATC Combined oxidative phosphorylation deficiency 42 618839
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None