combined oxidative phosphorylation deficiency 4

Term ID

DOID:0111494

Synonyms

• COXPD4

Definition

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2. https://www.ncbi.nlm.nih.gov/pubmed/17160893

References

• MESH:C565690
• OMIM:610678
• ORDO:254925
• SNOMEDCT_US_2023_03_01:766876004
• UMLS_CUI:C1857682

Ontology

Human Disease   ( DOID:0111494 )