OBO ID: DOID:0112137
Term Name: combined oxidative phosphorylation deficiency 51 Search Ontology:
Synonyms:
  • COXPD51
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in PTCD3 on chromosome 2p11.2. https://pubmed.ncbi.nlm.nih.gov/30607703/
References:
Ontology: Human Disease   (DOID:0112137)
OTHER combined oxidative phosphorylation deficiency 51 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PTCD3 ?Combined oxidative phosphorylation deficiency 51 619057
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None