{
    "disease_id": "DOID:0111749", 
    "synonyms": [
        {
            "url": "http://disease-ontology.org/term/DOID:0111749", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111749", 
            "name": "MC5DN6"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111749", 
        "description": "A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in ATP5MD on chromosome 10q24.33.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111749", 
        "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 6"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111749#disease-associations", 
            "id": "0111749", 
            "database": "Alliance of Genome Resources"
        }
    ]
}