FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term mitochondrial DNA depletion syndrome 8b ID (Ontology) DOID:0070331 (Human Disease)
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.
Also Known As "mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related"
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 mitochondrial DNA depletion syndrome 8b       1
 for disease ribbon | mitochondrial DNA depletion syndrome 8b       1
 model of | mitochondrial DNA depletion syndrome 8b       1
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autosomal genetic disease
 |__autosomal recessive disease___________
mitochondrial metabolism disease          |
 |__mitochondrial DNA depletion syndrome__|
                                          mitochondrial DNA depletion syndrome 8b  1 rec.
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Is a autosomal recessive disease
mitochondrial DNA depletion syndrome
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Synonyms
  • "mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related" EXACT
Secondary IDs
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MESH:C536350
MIM:612075