Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 13

Term ID
DOID:0111467
Synonyms
  • COXPD13
Definition
A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the PNPT1 gene on chromosome 2p16.1. https://www.ncbi.nlm.nih.gov/pubmed/23084291
References
Ontology
Human Disease   ( DOID:0111467 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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