OBO ID: DOID:0111476
Term Name: combined oxidative phosphorylation deficiency 19 Search Ontology:
Synonyms:
  • COXPD19
  • severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in LYRM4 on chromosome 6p25.1. https://www.ncbi.nlm.nih.gov/pubmed/23814038
References:
Ontology: Human Disease   (DOID:0111476)
OTHER combined oxidative phosphorylation deficiency 19 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LYRM4 ?Combined oxidative phosphorylation deficiency 19 615595
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None