{
    "disease_id": "DOID:0070426",
    "recommended_name": {
        "id": "DOID:0070426",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070426",
        "name": "combined oxidative phosphorylation deficiency 53",
        "description": "A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q33."
    },
    "synonyms": [
        {
            "id": "DOID:0070426",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070426",
            "name": "COXPD53",
            "description": ""
        },
        {
            "id": "MONDO:0030378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030378",
            "name": "combined oxidative phosphorylation deficiency 53",
            "description": "An autosomal recessive disorder characterized by hypomyelination, microcephaly, liver dysfunction, and recurrent hypomyelination."
        },
        {
            "id": "MONDO:0030378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030378",
            "name": "COXPD53",
            "description": ""
        },
        {
            "id": "MONDO:0030378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030378",
            "name": "combined oxidative phosphorylation deficiency due to C2orf69 deficiency",
            "description": ""
        },
        {
            "id": "MIM:619423",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619423",
            "name": "Combined oxidative phosphorylation deficiency 53",
            "description": "Combined oxidative phosphorylation deficiency 53"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070426"
    ],
    "unlinked_id_list": []
}