Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 23

Term ID
DOID:0111500
Synonyms
  • COXPD23
Definition
A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11. https://www.ncbi.nlm.nih.gov/pubmed/25434004
References
Ontology
Human Disease   ( DOID:0111500 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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