{
    "disease_id": "DOID:0080132",
    "recommended_name": {
        "id": "DOID:0080132",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080132",
        "name": "Sengers syndrome",
        "description": "A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34."
    },
    "synonyms": [
        {
            "id": "DOID:0080132",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080132",
            "name": "mitochondrial DNA depletion syndrome 10",
            "description": ""
        },
        {
            "id": "DOID:0080132",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080132",
            "name": "mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)",
            "description": ""
        },
        {
            "id": "MONDO:0008922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008922",
            "name": "Sengers syndrome",
            "description": "Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise."
        },
        {
            "id": "MONDO:0008922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008922",
            "name": "congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008922",
            "name": "Sengers syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008922",
            "name": "mitochondrial DNA depletion syndrome 10",
            "description": ""
        },
        {
            "id": "MONDO:0008922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008922",
            "name": "cardiomyopathy and cataract",
            "description": ""
        },
        {
            "id": "MONDO:0008922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008922",
            "name": "cardiomyopathic mitochondrial DNA depletion syndrome 10",
            "description": ""
        },
        {
            "id": "MONDO:0008922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008922",
            "name": "cataract and cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0008922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008922",
            "name": "mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type)",
            "description": ""
        },
        {
            "id": "MIM:212350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/212350",
            "name": "Mitochondrial DNA depletion syndrome 10",
            "description": "Mitochondrial DNA depletion syndrome 10"
        }
    ]
}