{
    "disease_id": "DOID:0111335", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014300", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014300", 
            "name": "proximal myopathy with extrapyramidal signs"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014300", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014300", 
            "name": "myopathy with extrapyramidal signs; MPXPS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014300", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014300", 
            "name": "MPXPS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111335", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111335", 
            "name": "MPXPS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111335", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111335", 
            "name": "proximal myopathy with extrapyramidal signs"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111335", 
        "description": "A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in MICU1 on chromosome 10q22.1.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111335", 
        "name": "myopathy with extrapyramidal signs"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111335#disease-associations", 
            "id": "0111335", 
            "database": "Alliance of Genome Resources"
        }
    ]
}