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Disease Ontology Browser
mitochondrial DNA depletion syndrome 8b (DOID:0070331)
Alliance: disease page
Synonyms: mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related
Alt IDs: OMIM:612075, MESH:C536350
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory