{
    "disease_id": "DOID:0080761", 
    "synonyms": [
        {
            "url": "http://disease-ontology.org/term/DOID:0080761", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080761", 
            "name": "Acadian-variant Fanconi syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080761", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080761", 
        "name": "Fanconi renotubular syndrome 5"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080761#disease-associations", 
            "id": "0080761", 
            "database": "Alliance of Genome Resources"
        }
    ]
}