{
    "disease_id": "DOID:0111749",
    "recommended_name": {
        "id": "DOID:0111749",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111749",
        "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 6",
        "description": "A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33."
    },
    "synonyms": [
        {
            "id": "DOID:0111749",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111749",
            "name": "MC5DN6",
            "description": ""
        },
        {
            "id": "MONDO:0032869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032869",
            "name": "mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6",
            "description": ""
        },
        {
            "id": "MONDO:0032869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032869",
            "name": "MC5DN6",
            "description": ""
        },
        {
            "id": "MIM:618683",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618683",
            "name": "Mitochondrial complex V deficiency, nuclear type 6",
            "description": "Mitochondrial complex V deficiency, nuclear type 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111749"
    ],
    "unlinked_id_list": []
}