{
    "disease_id": "DOID:0111480",
    "recommended_name": {
        "id": "DOID:0111480",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111480",
        "name": "combined oxidative phosphorylation deficiency 10",
        "description": "A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13."
    },
    "synonyms": [
        {
            "id": "DOID:0111480",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111480",
            "name": "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111480",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111480",
            "name": "COXPD10",
            "description": ""
        },
        {
            "id": "DOID:0111480",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111480",
            "name": "infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis",
            "description": ""
        },
        {
            "id": "MONDO:0013865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013865",
            "name": "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency",
            "description": "A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia."
        },
        {
            "id": "MONDO:0013865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013865",
            "name": "COXPD10",
            "description": ""
        },
        {
            "id": "MONDO:0013865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013865",
            "name": "MTO1 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013865",
            "name": "combined oxidative phosphorylation defect type 10",
            "description": ""
        },
        {
            "id": "MONDO:0013865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013865",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in MTO1",
            "description": ""
        },
        {
            "id": "MONDO:0013865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013865",
            "name": "combined oxidative phosphorylation deficiency type 10",
            "description": ""
        },
        {
            "id": "MONDO:0013865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013865",
            "name": "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013865",
            "name": "combined oxidative phosphorylation deficiency 10",
            "description": ""
        },
        {
            "id": "MIM:614702",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614702",
            "name": "Combined oxidative phosphorylation deficiency 10",
            "description": "Combined oxidative phosphorylation deficiency 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111480"
    ],
    "unlinked_id_list": []
}