{
    "disease_id": "DOID:0060796",
    "recommended_name": {
        "id": "DOID:0060796",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060796",
        "name": "hypomyelinating leukodystrophy 12",
        "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23."
    },
    "synonyms": [
        {
            "id": "DOID:0060796",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060796",
            "name": "HLD12",
            "description": ""
        },
        {
            "id": "MONDO:0014732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014732",
            "name": "hypomyelinating leukodystrophy 12",
            "description": "Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene."
        },
        {
            "id": "MONDO:0014732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014732",
            "name": "HLD12",
            "description": ""
        },
        {
            "id": "MONDO:0014732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014732",
            "name": "VPS11 leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014732",
            "name": "VPS11-related autosomal recessive hypomyelinating leukoencephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014732",
            "name": "hypomyelinating leukodystrophy type 12",
            "description": ""
        },
        {
            "id": "MONDO:0014732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014732",
            "name": "leukodystrophy caused by mutation in VPS11",
            "description": ""
        },
        {
            "id": "MONDO:0014732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014732",
            "name": "leukodystrophy, hypomyelinating, 12",
            "description": ""
        },
        {
            "id": "MONDO:0014732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014732",
            "name": "leukodystrophy, hypomyelinating, type 12",
            "description": ""
        },
        {
            "id": "MIM:616683",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616683",
            "name": "Leukodystrophy, hypomyelinating, 12",
            "description": "Leukodystrophy, hypomyelinating, 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060796"
    ],
    "unlinked_id_list": []
}