{
    "disease_id": "DOID:0070331",
    "recommended_name": {
        "id": "DOID:0070331",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070331",
        "name": "mitochondrial DNA depletion syndrome 8b",
        "description": "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."
    },
    "synonyms": [
        {
            "id": "DOID:0070331",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070331",
            "name": "mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related",
            "description": ""
        }
    ]
}