Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 17

Term ID
DOID:0111496
Synonyms
  • COXPD17
Definition
A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12. https://www.ncbi.nlm.nih.gov/pubmed/23849775
References
Ontology
Human Disease   ( DOID:0111496 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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