OBO ID: DOID:0112119
Term Name: combined oxidative phosphorylation deficiency 41 Search Ontology:
Synonyms:
  • COXPD41
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GATB on chromosome 4q31.3. https://pubmed.ncbi.nlm.nih.gov/30283131/
References:
Ontology: Human Disease   (DOID:0112119)
OTHER combined oxidative phosphorylation deficiency 41 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GATB ?Combined oxidative phosphorylation deficiency 41 618838
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None