{
    "disease_id": "DOID:0080946",
    "recommended_name": {
        "id": "DOID:0080946",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080946",
        "name": "retinal dystrophy with leukodystrophy",
        "description": "A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12."
    },
    "synonyms": [
        {
            "id": "DOID:0080946",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080946",
            "name": "ACBD5 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0030026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030026",
            "name": "retinal dystrophy with leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0030026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030026",
            "name": "RDLKD",
            "description": ""
        },
        {
            "id": "MONDO:0030026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030026",
            "name": "RETINAL DYSTROPHY WITH LEUKODYSTROPHY",
            "description": ""
        },
        {
            "id": "MONDO:0030026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030026",
            "name": "retinal dystrophy with leukodystrophy",
            "description": ""
        },
        {
            "id": "MIM:618863",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618863",
            "name": "Retinal dystrophy with leukodystrophy",
            "description": "Retinal dystrophy with leukodystrophy"
        }
    ]
}