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Human Disease

mitochondrial DNA depletion syndrome 8b

Term ID
DOID:0070331
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. (3)
References
Ontology
Human Disease   ( DOID:0070331 )
Relationships
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Genes Involved
Zebrafish Models