Term Name:	mitochondrial DNA depletion syndrome 8b
Synonyms:	mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related
Definition:	A mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase M2 B gene on chromosome 8q22.
Ontology:	Human Disease [DOID:0070331]   ( DOID:0070331 )