{
    "disease_id": "DOID:0060602",
    "recommended_name": {
        "id": "DOID:0060602",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060602",
        "name": "alpha-methylacyl-CoA racemase deficiency",
        "description": "A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1."
    },
    "synonyms": [
        {
            "id": "DOID:0060602",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060602",
            "name": "AMACR deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013681",
            "name": "alpha-methylacyl-CoA racemase deficiency",
            "description": "A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy."
        },
        {
            "id": "MONDO:0013681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013681",
            "name": "AMACR",
            "description": ""
        },
        {
            "id": "MONDO:0013681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013681",
            "name": "AMACR deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013681",
            "name": "alpha-methylacyl-CoA racemase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013681",
            "name": "AMACRD",
            "description": ""
        },
        {
            "id": "MIM:614307",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614307",
            "name": "Alpha-methylacyl-CoA racemase deficiency",
            "description": "Alpha-methylacyl-CoA racemase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060602"
    ],
    "unlinked_id_list": []
}