{
    "disease_id": "DOID:0081240",
    "recommended_name": {
        "id": "DOID:0081240",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081240",
        "name": "peroxisome biogenesis disorder 1B",
        "description": "A peroxisome biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0011101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011101",
            "name": "peroxisome biogenesis disorder 1B",
            "description": ""
        },
        {
            "id": "MONDO:0011101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011101",
            "name": "peroxisome biogenesis disorder 1B",
            "description": ""
        },
        {
            "id": "MONDO:0011101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011101",
            "name": "peroxisome biogenesis disorder 1B (NALD/IRD)",
            "description": ""
        },
        {
            "id": "MONDO:0011101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011101",
            "name": "peroxisome biogenesis disorder type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0011101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011101",
            "name": "PBD1B",
            "description": ""
        },
        {
            "id": "MIM:601539",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601539",
            "name": "Peroxisome biogenesis disorder 1B",
            "description": "Peroxisome biogenesis disorder 1B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081240"
    ],
    "unlinked_id_list": []
}
