|OBO ID: DOID:0070331|
|Term Name:||mitochondrial DNA depletion syndrome 8b||Search Ontology:|
|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)|
|Ontology:||Human Disease (DOID:0070331)|
|is a type of:||
OTHER mitochondrial DNA depletion syndrome 8b PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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