OBO ID: DOID:0111469
Term Name: combined oxidative phosphorylation deficiency 16 Search Ontology:
Synonyms:
  • COXPD16
  • infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compund heterozygous mutation in MRPL44 on chromosome 2q36.1. https://www.ncbi.nlm.nih.gov/pubmed/23315540
References:
Ontology: Human Disease   (DOID:0111469)
OTHER combined oxidative phosphorylation deficiency 16 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MRPL44 Combined oxidative phosphorylation deficiency 16 615395
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None