combined oxidative phosphorylation deficiency 1

Term ID

DOID:0111474

Synonyms

• COXPD1
• early fatal progressive hepatoencephalopathy
• hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
• hepatoencephalopathy due to COXPD1

Definition

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32. https://ghr.nlm.nih.gov/condition/combined-oxidative-phosphorylation-deficiency-1

References

• MESH:C563797
• NCI:C125663
• OMIM:609060
• ORDO:137681
• UMLS_CUI:C1836797

Ontology

Human Disease   ( DOID:0111474 )