{
    "disease_id": "DOID:0060537",
    "recommended_name": {
        "id": "DOID:0060537",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060537",
        "name": "mitochondrial complex II deficiency",
        "description": "A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23."
    },
    "synonyms": [
        {
            "id": "DOID:0060537",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060537",
            "name": "isolated succinate-CoQ reductase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060537",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060537",
            "name": "isolated succinate-coenzyme Q reductase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060537",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060537",
            "name": "isolated succinate-ubiquinone reductase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060537",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060537",
            "name": "isolated mitochondrial respiratory chain complex II deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0100294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100294",
            "name": "mitochondrial complex II deficiency, nuclear type 1",
            "description": "Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers."
        },
        {
            "id": "MONDO:0100294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100294",
            "name": "isolated mitochondrial respiratory chain complex II deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0100294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100294",
            "name": "isolated succinate-CoQ reductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0100294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100294",
            "name": "isolated succinate-coenzyme Q reductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0100294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100294",
            "name": "isolated succinate-ubiquinone reductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0100294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100294",
            "name": "mitochondrial complex II deficiency, nuclear type 1",
            "description": ""
        },
        {
            "id": "MONDO:0100294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100294",
            "name": "complex 2 mitochondrial respiratory chain deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0100294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100294",
            "name": "mitochondrial respiratory chain complex II deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0100294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100294",
            "name": "succinate dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MIM:252011",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/252011",
            "name": "Mitochondrial complex II deficiency, nuclear type 1",
            "description": "Mitochondrial complex II deficiency, nuclear type 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060537"
    ],
    "unlinked_id_list": []
}