{
    "disease_id": "DOID:0070331", 
    "synonyms": [
        {
            "url": "http://disease-ontology.org/term/DOID:0070331", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0070331", 
            "name": "mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0070331", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0070331", 
        "name": "mitochondrial DNA depletion syndrome 8b"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0070331#disease-associations", 
            "id": "0070331", 
            "database": "Alliance of Genome Resources"
        }
    ]
}