Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 8

Term ID
DOID:0111479
Synonyms
  • COXPD8
Definition
A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.1. https://www.ncbi.nlm.nih.gov/pubmed/21549344
References
Ontology
Human Disease   ( DOID:0111479 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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