combined oxidative phosphorylation deficiency 1 (DOID:0111474)
Alliance: disease page
Synonyms: COXPD1; early fatal progressive hepatoencephalopathy; hepatoencephalopathy due to combined oxidative phosphorylation defect type 1; hepatoencephalopathy due to COXPD1
Alt IDs: OMIM:609060, MESH:C563797, NCI:C125663, ORDO:137681, UMLS_CUI:C1836797
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32.