{
    "disease_id": "DOID:0080111", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007415", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007415", 
            "name": "mitochondrial complex III deficiency, nuclear type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007415", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007415", 
            "name": "mitochondrial complex III deficiency, nuclear type 1; MC3DN1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007415", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007415", 
            "name": "Complex 3 mitochondrial respiratory chain deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007415", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007415", 
            "name": "BCS1L mitochondrial complex III deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007415", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007415", 
            "name": "MC3DN1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007415", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007415", 
            "name": "mitochondrial Complex 3 deficiency, nuclear type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007415", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007415", 
            "name": "mitochondrial complex III deficiency caused by mutation in BCS1L"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007415", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007415", 
            "name": "mitochondrial complex III deficiency"
        }, 
        {
            "url": "https://www.omim.org/entry/124000", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:124000", 
            "name": "Mitochondrial complex III deficiency, nuclear 1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080111", 
        "description": "A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080111", 
        "name": "mitochondrial complex III deficiency nuclear type 1"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/124000", 
            "id": "124000", 
            "database": "MIM"
        }
    ]
}