{
    "disease_id": "DOID:0070474",
    "recommended_name": {
        "id": "DOID:0070474",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070474",
        "name": "childhood-onset neurodegeneration with brain atrophy",
        "description": "A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31."
    },
    "synonyms": [
        {
            "id": "DOID:0070474",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070474",
            "name": "CONDBA",
            "description": ""
        },
        {
            "id": "DOID:0070474",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070474",
            "name": "childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder",
            "description": ""
        },
        {
            "id": "MONDO:0044701",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044701",
            "name": "childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder",
            "description": ""
        },
        {
            "id": "MONDO:0044701",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044701",
            "name": "UBTF-related disorder",
            "description": ""
        },
        {
            "id": "MONDO:0044701",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044701",
            "name": "CONDBA",
            "description": ""
        },
        {
            "id": "MIM:617672",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617672",
            "name": "Neurodegeneration, childhood-onset, with brain atrophy",
            "description": "Neurodegeneration, childhood-onset, with brain atrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070474"
    ],
    "unlinked_id_list": []
}