{
    "disease_id": "DOID:0070347",
    "recommended_name": {
        "id": "DOID:0070347",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070347",
        "name": "encephalopathy due to defective mitochondrial and peroxisomal fission 1",
        "description": "A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood."
    },
    "synonyms": [
        {
            "id": "MONDO:0013726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013726",
            "name": "lethal encephalopathy due to mitochondrial and peroxisomal fission defect",
            "description": ""
        },
        {
            "id": "MONDO:0013726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013726",
            "name": "encephalopathy due to defective mitochondrial and peroxisomal fission 1",
            "description": ""
        },
        {
            "id": "MONDO:0013726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013726",
            "name": "encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission",
            "description": ""
        },
        {
            "id": "MONDO:0013726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013726",
            "name": "EMPF",
            "description": ""
        },
        {
            "id": "MONDO:0013726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013726",
            "name": "encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission; EMPF",
            "description": ""
        },
        {
            "id": "MONDO:0013726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013726",
            "name": "EMPF1",
            "description": ""
        },
        {
            "id": "MONDO:0013726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013726",
            "name": "encephalopathy due to defective mitochondrial and peroxisomal fission 1; EMPF1",
            "description": ""
        },
        {
            "id": "MIM:614388",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614388",
            "name": "Encephalopathy due to defective mitochondrial and peroxisomal fission 1",
            "description": "Encephalopathy due to defective mitochondrial and peroxisomal fission 1"
        }
    ]
}