{
    "disease_id": "DOID:0060792",
    "recommended_name": {
        "id": "DOID:0060792",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060792",
        "name": "hypomyelinating leukodystrophy 11",
        "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "DOID:0060792",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060792",
            "name": "HLD11",
            "description": ""
        },
        {
            "id": "MONDO:0014666",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014666",
            "name": "hypomyelinating leukodystrophy 11",
            "description": "Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene."
        },
        {
            "id": "MONDO:0014666",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014666",
            "name": "HLD11",
            "description": ""
        },
        {
            "id": "MONDO:0014666",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014666",
            "name": "POLR1C leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014666",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014666",
            "name": "hypomyelinating leukodystrophy type 11",
            "description": ""
        },
        {
            "id": "MONDO:0014666",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014666",
            "name": "leukodystrophy caused by mutation in POLR1C",
            "description": ""
        },
        {
            "id": "MONDO:0014666",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014666",
            "name": "leukodystrophy, hypomyelinating, type 11",
            "description": ""
        },
        {
            "id": "MONDO:0014666",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014666",
            "name": "leukodystrophy, hypomyelinating, 11",
            "description": ""
        },
        {
            "id": "MIM:616494",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616494",
            "name": "Leukodystrophy, hypomyelinating, 11",
            "description": "Leukodystrophy, hypomyelinating, 11"
        }
    ]
}