OBO ID: DOID:0112112
Term Name: combined oxidative phosphorylation deficiency 48 Search Ontology:
Synonyms:
  • COXPD48
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NSUN3 on chromosome 3q11.2. https://pubmed.ncbi.nlm.nih.gov/27356879/
References:
Ontology: Human Disease   (DOID:0112112)
OTHER combined oxidative phosphorylation deficiency 48 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NSUN3 Combined oxidative phosphorylation deficiency 48 619012
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None