{
    "disease_id": "DOID:0111273",
    "recommended_name": {
        "id": "DOID:0111273",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111273",
        "name": "NARP syndrome",
        "description": "A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6."
    },
    "synonyms": [
        {
            "id": "DOID:0111273",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111273",
            "name": "Neuropathy-ataxia-retinitis pigmentosa syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111273",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111273",
            "name": "neuropathy, ataxia and retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "DOID:0111273",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111273",
            "name": "Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010794",
            "name": "NARP syndrome",
            "description": "A clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy."
        },
        {
            "id": "MONDO:0010794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010794",
            "name": "NARP syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010794",
            "name": "neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010794",
            "name": "neuropathy-ataxia-retinitis pigmentosa syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010794",
            "name": "NARP",
            "description": ""
        },
        {
            "id": "MONDO:0010794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010794",
            "name": "neuropathy ataxia retinitis pigmentosa syndrome",
            "description": ""
        },
        {
            "id": "MIM:551500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/551500",
            "name": "Neuropathy, ataxia, and retinitis pigmentosa",
            "description": "Neuropathy, ataxia, and retinitis pigmentosa"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111273"
    ],
    "unlinked_id_list": []
}