Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 2

Term ID
DOID:0111483
Synonyms
  • agenesis of corpus callosum with dysmorphism and fatal lactic acidosis
  • COXPD2
Definition
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2. https://www.ncbi.nlm.nih.gov/pubmed/15505824
References
Ontology
Human Disease   ( DOID:0111483 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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