OBO ID: DOID:0111466
Term Name: combined oxidative phosphorylation deficiency 38 Search Ontology:
Synonyms:
  • COXPD38
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS14 on chromosome 1q25.1. https://www.ncbi.nlm.nih.gov/pubmed/30358850
References:
Ontology: Human Disease   (DOID:0111466)
OTHER combined oxidative phosphorylation deficiency 38 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MRPS14 ?Combined oxidative phosphorylation deficiency 38 618378
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None