OBO ID: DOID:0111481
Term Name: combined oxidative phosphorylation deficiency 11 Search Ontology:
Synonyms:
  • COXPD11
  • infantile encephaloneuromyopathy due to mitochondrial translation defect
Definition: A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in RMND1 on chromosome 6q25.1. https://www.ncbi.nlm.nih.gov/pubmed/23022099
References:
Ontology: Human Disease   (DOID:0111481)
OTHER combined oxidative phosphorylation deficiency 11 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RMND1 Combined oxidative phosphorylation deficiency 11 614922
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None