{
    "disease_id": "DOID:0111473",
    "recommended_name": {
        "id": "DOID:0111473",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111473",
        "name": "combined oxidative phosphorylation deficiency 5",
        "description": "A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23."
    },
    "synonyms": [
        {
            "id": "DOID:0111473",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111473",
            "name": "COXPD5",
            "description": ""
        },
        {
            "id": "DOID:0111473",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111473",
            "name": "hypotonia with lactic acidemia and hyperammonemia",
            "description": ""
        },
        {
            "id": "MONDO:0012718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012718",
            "name": "hypotonia with lactic acidemia and hyperammonemia",
            "description": "This syndrome is characterized by severe hypotonia, lactic academia and congenital hyperammonaemia."
        },
        {
            "id": "MONDO:0012718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012718",
            "name": "COXPD5",
            "description": ""
        },
        {
            "id": "MONDO:0012718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012718",
            "name": "MRPS22 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012718",
            "name": "combined oxidative phosphorylation defect type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012718",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in MRPS22",
            "description": ""
        },
        {
            "id": "MONDO:0012718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012718",
            "name": "combined oxidative phosphorylation deficiency type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012718",
            "name": "combined oxidative phosphorylation deficiency 5",
            "description": ""
        },
        {
            "id": "MIM:611719",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611719",
            "name": "Combined oxidative phosphorylation deficiency 5",
            "description": "Combined oxidative phosphorylation deficiency 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111473"
    ],
    "unlinked_id_list": []
}