{
    "disease_id": "DOID:0080123",
    "recommended_name": {
        "id": "DOID:0080123",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080123",
        "name": "mitochondrial DNA depletion syndrome 4b",
        "description": "A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene on chromosome 15q26."
    },
    "synonyms": [
        {
            "id": "DOID:0080123",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080123",
            "name": "mitochondrial neurogastrointestinal encephalopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013350",
            "name": "mitochondrial DNA depletion syndrome 4b",
            "description": ""
        },
        {
            "id": "MONDO:0013350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013350",
            "name": "mitochondrial DNA depletion syndrome type 4b",
            "description": ""
        },
        {
            "id": "MONDO:0013350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013350",
            "name": "mitochondrial neurogastrointestinal encephalopathy syndrome, Polg-related",
            "description": ""
        },
        {
            "id": "MONDO:0013350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013350",
            "name": "Mngie, Polg-related",
            "description": ""
        },
        {
            "id": "MONDO:0013350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013350",
            "name": "mitochondrial DNA depletion syndrome 4B (MNGIE type); MTDPS4B",
            "description": ""
        },
        {
            "id": "MONDO:0013350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013350",
            "name": "MTDPS4B",
            "description": ""
        },
        {
            "id": "MONDO:0013350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013350",
            "name": "mitochondrial DNA depletion syndrome 4B (MNGIE type)",
            "description": ""
        },
        {
            "id": "MIM:613662",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613662",
            "name": "Mitochondrial DNA depletion syndrome 4B",
            "description": "Mitochondrial DNA depletion syndrome 4B"
        }
    ]
}