OBO ID: DOID:0111482
Term Name: combined oxidative phosphorylation deficiency 36 Search Ontology:
Synonyms:
  • COXPD36
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS2 on chromosome 9q34.3. https://www.ncbi.nlm.nih.gov/pubmed/29576219
References:
Ontology: Human Disease   (DOID:0111482)
OTHER combined oxidative phosphorylation deficiency 36 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MRPS2 Combined oxidative phosphorylation deficiency 36 617950
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None