OBO ID: DOID:0070331 |
Term Name: | mitochondrial DNA depletion syndrome 8b | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0070331 ) |
OTHER mitochondrial DNA depletion syndrome 8b PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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