{
    "disease_id": "DOID:0070343", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010866", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010866", 
            "name": "infantile osteopetrosis with neuroaxonal dysplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010866", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010866", 
            "name": "osteopetrosis and infantile neuroaxonal dystrophy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0070343", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0070343", 
            "name": "osteoporosis and infantile neuroaxonal dystrophy"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0070343", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0070343", 
        "name": "CSF1R-related brain malformation and osteopetrosis"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0070343#disease-associations", 
            "id": "0070343", 
            "database": "Alliance of Genome Resources"
        }
    ]
}