{
    "disease_id": "DOID:0080335", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014175", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014175", 
            "name": "mitochondrial DNA depletion syndrome 12"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014175", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014175", 
            "name": "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive; MTDPS12B"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014175", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014175", 
            "name": "MTDPS12B"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014175", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014175", 
            "name": "mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014175", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014175", 
            "name": "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014175", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014175", 
            "name": "MTDPS12"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014175", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014175", 
            "name": "mitochondrial DNA depletion syndrome type 12"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014175", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014175", 
            "name": "mitochondrial DNA depletion syndrome 12 (cardiomyopathic type); MTDPS12"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080335", 
        "description": "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080335", 
        "name": "mitochondrial DNA depletion syndrome 12b"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080335#disease-associations", 
            "id": "0080335", 
            "database": "Alliance of Genome Resources"
        }
    ]
}