{
    "disease_id": "DOID:0080130", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014959", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014959", 
            "name": "mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014959", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014959", 
            "name": "mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant; MTDPS12A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014959", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014959", 
            "name": "MTDPS12A"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080130", 
        "description": "A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080130", 
        "name": "mitochondrial DNA depletion syndrome 12a"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080130#disease-associations", 
            "id": "0080130", 
            "database": "Alliance of Genome Resources"
        }
    ]
}