{
    "disease_id": "DOID:0081385",
    "recommended_name": {
        "id": "DOID:0081385",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081385",
        "name": "ataxia-telangiectasia-like disorder 2",
        "description": "An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12."
    },
    "synonyms": [
        {
            "id": "DOID:0081385",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081385",
            "name": "PCNA-related progressive neurodegenerative photosensitivity syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014399",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014399",
            "name": "ataxia-telangiectasia-like disorder 2",
            "description": ""
        },
        {
            "id": "MONDO:0014399",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014399",
            "name": "ataxia-telangiectasia-like disorder 2",
            "description": ""
        },
        {
            "id": "MONDO:0014399",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014399",
            "name": "ataxia-telangiectasia-like disorder type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014399",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014399",
            "name": "ATLD2",
            "description": ""
        },
        {
            "id": "MIM:615919",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615919",
            "name": "Ataxia-telangiectasia-like disorder 2",
            "description": "Ataxia-telangiectasia-like disorder 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081385"
    ],
    "unlinked_id_list": []
}