FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term combined oxidative phosphorylation deficiency 8 ID (Ontology) DOID:0111479 (Human Disease)
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.
Also Known As "COXPD8"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 combined oxidative phosphorylation deficiency 8       2
 for disease ribbon | combined oxidative phosphorylation deficiency 8       2
 model of | combined oxidative phosphorylation deficiency 8       2
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease____________________
mitochondrial metabolism disease                   |
 |__combined oxidative phosphorylation deficiency__|
                                                   combined oxidative phosphorylation deficiency 8  2 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
combined oxidative phosphorylation deficiency
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "COXPD8" EXACT OMO:0003012
Secondary IDs
hide External Crossreferences & Linkouts
MIM:614096
ORDO:319504