{
    "disease_id": "DOID:0070427",
    "recommended_name": {
        "id": "DOID:0070427",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070427",
        "name": "combined oxidative phosphorylation deficiency 54",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070427",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070427",
            "name": "COXPD54",
            "description": ""
        },
        {
            "id": "MONDO:0030543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030543",
            "name": "combined oxidative phosphorylation deficiency 54",
            "description": ""
        },
        {
            "id": "MONDO:0030543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030543",
            "name": "COXPD54",
            "description": ""
        },
        {
            "id": "MIM:619737",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619737",
            "name": "Combined oxidative phosphorylation deficiency 54",
            "description": "Combined oxidative phosphorylation deficiency 54"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070427"
    ],
    "unlinked_id_list": []
}