{
    "disease_id": "DOID:0111484",
    "recommended_name": {
        "id": "DOID:0111484",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111484",
        "name": "combined oxidative phosphorylation deficiency 18",
        "description": "A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111484",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111484",
            "name": "growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111484",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111484",
            "name": "COXPD18",
            "description": ""
        },
        {
            "id": "MONDO:0014261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014261",
            "name": "growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome",
            "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene."
        },
        {
            "id": "MONDO:0014261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014261",
            "name": "SFXN4 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014261",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in SFXN4",
            "description": ""
        },
        {
            "id": "MONDO:0014261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014261",
            "name": "combined oxidative phosphorylation deficiency type 18",
            "description": ""
        },
        {
            "id": "MONDO:0014261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014261",
            "name": "COXPD18",
            "description": ""
        },
        {
            "id": "MONDO:0014261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014261",
            "name": "combined oxidative phosphorylation deficiency 18",
            "description": ""
        },
        {
            "id": "MIM:615578",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615578",
            "name": "Combined oxidative phosphorylation deficiency 18",
            "description": "Combined oxidative phosphorylation deficiency 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111484"
    ],
    "unlinked_id_list": []
}