{
    "disease_id": "DOID:0070407",
    "recommended_name": {
        "id": "DOID:0070407",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070407",
        "name": "hypomyelinating leukodystrophy 21",
        "description": "A hypomyelinating leukodystrophy characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life that has_material_basis_in homozygous mutation in the POLR3K gene on chromosome 16p13."
    },
    "synonyms": [
        {
            "id": "DOID:0070407",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070407",
            "name": "HLD21",
            "description": ""
        },
        {
            "id": "MONDO:0030263",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030263",
            "name": "leukodystrophy, hypomyelinating, 21",
            "description": ""
        },
        {
            "id": "MONDO:0030263",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030263",
            "name": "HLD21",
            "description": ""
        },
        {
            "id": "MONDO:0030263",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030263",
            "name": "leukodystrophy, hypomyelinating, 21",
            "description": ""
        },
        {
            "id": "MIM:619310",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619310",
            "name": "Leukodystrophy, hypomyelinating, 21",
            "description": "Leukodystrophy, hypomyelinating, 21"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070407"
    ],
    "unlinked_id_list": []
}