{
    "disease_id": "DOID:0111492",
    "recommended_name": {
        "id": "DOID:0111492",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111492",
        "name": "combined oxidative phosphorylation deficiency 32",
        "description": "A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS34 gene on chromosome 16p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111492",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111492",
            "name": "COXPD32",
            "description": ""
        },
        {
            "id": "MONDO:0054654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054654",
            "name": "combined oxidative phosphorylation deficiency 32",
            "description": ""
        },
        {
            "id": "MONDO:0054654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054654",
            "name": "combined oxidative phosphorylation deficiency 32",
            "description": ""
        },
        {
            "id": "MONDO:0054654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054654",
            "name": "COXPD32",
            "description": ""
        },
        {
            "id": "MIM:617664",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617664",
            "name": "Combined oxidative phosphorylation deficiency 32",
            "description": "Combined oxidative phosphorylation deficiency 32"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111492"
    ],
    "unlinked_id_list": []
}