{
    "disease_id": "DOID:0080761",
    "recommended_name": {
        "id": "DOID:0080761",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080761",
        "name": "Fanconi renotubular syndrome 5",
        "description": "A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22."
    },
    "synonyms": [
        {
            "id": "DOID:0080761",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080761",
            "name": "Acadian-variant Fanconi syndrome",
            "description": ""
        },
        {
            "id": "MIM:618913",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618913",
            "name": "Fanconi renotubular syndrome 5",
            "description": "Fanconi renotubular syndrome 5"
        }
    ]
}