OBO ID: DOID:0111475
Term Name: combined oxidative phosphorylation deficiency 39 Search Ontology:
Synonyms:
  • COXPD39
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GFM2 on chromosome 5q13.3. https://www.ncbi.nlm.nih.gov/pubmed/22700954
References:
Ontology: Human Disease   (DOID:0111475)
OTHER combined oxidative phosphorylation deficiency 39 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GFM2 Combined oxidative phosphorylation deficiency 39 618397
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None