Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 38

Term ID
DOID:0111466
Synonyms
  • COXPD38
Definition
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1. https://www.ncbi.nlm.nih.gov/pubmed/30358850
References
Ontology
Human Disease   ( DOID:0111466 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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