{
    "disease_id": "DOID:0070397",
    "recommended_name": {
        "id": "DOID:0070397",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070397",
        "name": "hypomyelinating leukodystrophy 23",
        "description": "A hypomyelinating leukodystrophy characterized by ataxia, deafness, liver dysfunction, and dilated cardiomyopathy that has_material_basis_in homozygous mutation in the RNF220 gene on chromosome 1p34. This disease results in death in the first or second decade of life."
    },
    "synonyms": [
        {
            "id": "DOID:0070397",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070397",
            "name": "HLD23",
            "description": ""
        },
        {
            "id": "MONDO:0030514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030514",
            "name": "leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0030514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030514",
            "name": "HLD23",
            "description": ""
        },
        {
            "id": "MIM:619688",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619688",
            "name": "Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy",
            "description": "Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy"
        }
    ]
}