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Metadata
ID	DOID:0070331
Name	mitochondrial DNA depletion syndrome 8b
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. https://www.ncbi.nlm.nih.gov/pubmed/28215579, https://www.ncbi.nlm.nih.gov/pubmed/30373120, https://www.omim.org/entry/612075
Xrefs	MESH:C536350 OMIM:612075
Synonyms	mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related [EXACT]
Parent Relationships	is_a mitochondrial DNA depletion syndrome is_a autosomal recessive disease