Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 4

Term ID
DOID:0111494
Synonyms
  • COXPD4
Definition
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2. https://www.ncbi.nlm.nih.gov/pubmed/17160893
References
Ontology
Human Disease   ( DOID:0111494 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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