{
    "disease_id": "DOID:0112072",
    "recommended_name": {
        "id": "DOID:0112072",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112072",
        "name": "nuclear type mitochondrial complex I deficiency 20",
        "description": "A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112072",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112072",
            "name": "ACAD9 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112072",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112072",
            "name": "Acyl-CoA dehydrogenase 9 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112072",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112072",
            "name": "MC1DN20",
            "description": ""
        },
        {
            "id": "DOID:0112072",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112072",
            "name": "mitochondrial complex 1 deficiency due to ACAD9 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012624",
            "name": "acyl-CoA dehydrogenase 9 deficiency",
            "description": "A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy."
        },
        {
            "id": "MONDO:0012624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012624",
            "name": "ACAD9 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012624",
            "name": "acyl-CoA dehydrogenase 9 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012624",
            "name": "mitochondrial complex I deficiency due to ACAD9 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012624",
            "name": "mitochondrial complex I deficiency, nuclear type 20",
            "description": ""
        },
        {
            "id": "MIM:611126",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611126",
            "name": "Mitochondrial complex I deficiency, nuclear type 20",
            "description": "Mitochondrial complex I deficiency, nuclear type 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112072"
    ],
    "unlinked_id_list": []
}