{
    "disease_id": "DOID:0080111",
    "recommended_name": {
        "id": "DOID:0080111",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080111",
        "name": "mitochondrial complex III deficiency nuclear type 1",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0007415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "name": "mitochondrial complex III deficiency nuclear type 1",
            "description": "Mitochondrial complex III deficiency is one of several conditions caused by dysfunction of mitochondria , which are specialized compartments in cells that generate more than 90% of the energy required by the body. It is a severe, multisystem disorder that includes features such as lactic acidosis , hypotonia , hypoglycemia , failure to thrive , encephalopathy , and delayed psychomotor development. Involvement of internal organs, includingliver diseaseand renal tubulopathy, may also occur. Symptoms typically begin at birth. Many affected individuals die in early childhood, but some have survived longer. It is generallycaused by mutations in nuclear DNA in the BCS1L , UQCRB and UQCRQ genes and inherited in an autosomal recessive manner.However,it may also be caused bymutations in mitochondrial DNA in the MTCYB gene, which is passed down maternally or occurs sporadically and may result in a milder form of the condition. Treatment generally focuses on alleviating symptoms and/or slowing down the progression of the disease,and effectiveness can vary among individuals."
        },
        {
            "id": "MONDO:0007415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "name": "mitochondrial complex III deficiency, nuclear type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "name": "mitochondrial complex III deficiency, nuclear type 1; MC3DN1",
            "description": ""
        },
        {
            "id": "MONDO:0007415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "name": "Complex 3 mitochondrial respiratory chain deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "name": "BCS1L mitochondrial complex III deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "name": "MC3DN1",
            "description": ""
        },
        {
            "id": "MONDO:0007415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "name": "mitochondrial Complex 3 deficiency, nuclear type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "name": "mitochondrial complex III deficiency caused by mutation in BCS1L",
            "description": ""
        },
        {
            "id": "MONDO:0007415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "name": "mitochondrial complex III deficiency",
            "description": ""
        },
        {
            "id": "MIM:124000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/124000",
            "name": "Mitochondrial complex III deficiency, nuclear 1",
            "description": "Mitochondrial complex III deficiency, nuclear 1"
        }
    ]
}