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Review mitochondrial DNA depletion syndrome 8b crossreference
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src/ontology/doid-edit.owl

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@@ -49819,7 +49819,6 @@ SubClassOf(obo:DOID_0070330 obo:DOID_700)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28215579") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30373120") obo:IAO_0000115 obo:DOID_0070331 "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.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070331 "MESH:C536350")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070331 "MIM:612075")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070331 "mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070331 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0070331 "DOID:0070331")

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