Term Name: combined oxidative phosphorylation deficiency 1
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.
Ontology: Human Disease [DOID:0111474]   ( DOID:0111474 )

Relationships
is a type of: autosomal recessive disease combined oxidative phosphorylation deficiency