{
    "disease_id": "DOID:0080335",
    "recommended_name": {
        "id": "DOID:0080335",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080335",
        "name": "mitochondrial DNA depletion syndrome 12b",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0014175",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014175",
            "name": "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive",
            "description": "An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy."
        },
        {
            "id": "MONDO:0014175",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014175",
            "name": "MTDPS12B",
            "description": ""
        },
        {
            "id": "MONDO:0014175",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014175",
            "name": "mitochondrial DNA depletion syndrome 12",
            "description": ""
        },
        {
            "id": "MONDO:0014175",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014175",
            "name": "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR",
            "description": ""
        },
        {
            "id": "MONDO:0014175",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014175",
            "name": "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR",
            "description": ""
        },
        {
            "id": "MONDO:0014175",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014175",
            "name": "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014175",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014175",
            "name": "MTDPS12",
            "description": ""
        },
        {
            "id": "MONDO:0014175",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014175",
            "name": "mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)",
            "description": ""
        },
        {
            "id": "MONDO:0014175",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014175",
            "name": "mitochondrial DNA depletion syndrome type 12",
            "description": ""
        },
        {
            "id": "MIM:615418",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615418",
            "name": "Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type",
            "description": "Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080335"
    ],
    "unlinked_id_list": []
}