{
    "disease_id": "DOID:0070343",
    "recommended_name": {
        "id": "DOID:0070343",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070343",
        "name": "CSF1R-related brain malformation and osteopetrosis",
        "description": "A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life."
    },
    "synonyms": [
        {
            "id": "DOID:0070343",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070343",
            "name": "osteoporosis and infantile neuroaxonal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010866",
            "name": "infantile osteopetrosis with neuroaxonal dysplasia",
            "description": "This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus."
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070343"
    ],
    "unlinked_id_list": []
}