{
    "disease_id": "DOID:0111180",
    "recommended_name": {
        "id": "DOID:0111180",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111180",
        "name": "French Canadian Leigh disease",
        "description": "A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21."
    },
    "synonyms": [
        {
            "id": "DOID:0111180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111180",
            "name": "French Canadian type COX deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111180",
            "name": "French Canadian type Leigh syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111180",
            "name": "Saguenay Lac saint Jean type COX deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111180",
            "name": "Saguenay Lac saint Jean type Leigh syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111180",
            "name": "French Canadian type cytochrome c oxidase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111180",
            "name": "mitochondrial complex IV deficiency nuclear type 5",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "congenital lactic acidosis, Saguenay-Lac-Saint-Jean type",
            "description": "Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development."
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "COX deficiency, French-Canadian type",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "Leigh syndrome, French-Canadian type",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "Leigh syndrome, Saguenay-Lac-Saint-Jean type",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "SLSJ-COX deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "congenital lactic acidosis, Saguenay-Lac-Saint-Jean type",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "cytochrome C oxidase deficiency, French-Canadian type",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "Cox deficiency, Saguenay Lac saint Jean type",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "LSFC",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "Leigh syndrome, French Canadian type",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "Leigh syndrome, Saguenay Lac saint Jean type",
            "description": ""
        },
        {
            "id": "MIM:220111",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/220111",
            "name": "Mitochondrial complex IV deficiency, nuclear type 5",
            "description": "Mitochondrial complex IV deficiency, nuclear type 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111180"
    ],
    "unlinked_id_list": []
}