Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 19

Term ID
DOID:0111476
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 the LYRM4 gene on chromosome 6p25.1. https://www.ncbi.nlm.nih.gov/pubmed/23814038
References
Ontology
Human Disease   ( DOID:0111476 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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